#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
AATK	9625	genome.wustl.edu	37	17	79139785	79139785	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:79139785G>A	ENST00000326724.4	-	1	32	c.8C>T	c.(7-9)tCg>tTg	p.S3L	AATK-AS1_ENST00000571031.1_RNA|AATK-AS1_ENST00000414089.1_RNA	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	3					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAAGAAGGACGACGACATGGC	0.776																																						dbGAP											0													11.0	13.0	13.0					17																	79139785		1525	3550	5075	-	-	-	SO:0001583	missense	0			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.8C>T	17.37:g.79139785G>A	ENSP00000324196:p.Ser3Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S3L	ENST00000326724.4	37	c.8	CCDS45807.1	17	.	.	.	.	.	.	.	.	.	.	G	7.713	0.695654	0.15106	.	.	ENSG00000181409	ENST00000326724;ENST00000374792	T;T	0.79940	-1.32;-1.19	2.7	1.67	0.24075	.	0.165862	0.25117	N	0.033014	T	0.53786	0.1818	N	0.08118	0	0.80722	D	1	B	0.33171	0.4	B	0.19946	0.027	T	0.54153	-0.8336	10	0.51188	T	0.08	.	4.9062	0.13799	0.1867:0.0:0.8133:0.0	.	3	Q6ZMQ8	LMTK1_HUMAN	L	3	ENSP00000324196:S3L;ENSP00000363924:S3L	ENSP00000324196:S3L	S	-	2	0	AATK	76754380	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.009000	0.49552	1.236000	0.43740	0.196000	0.17591	TCG	AATK	-	NULL	ENSG00000181409		0.776	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1	34	0.00	0	G	NM_004920		79139785	79139785	-1	no_errors	ENST00000326724	ensembl	human	known	69_37n	missense	22	33.33	11	SNP	0.996	A
ABCA2	20	genome.wustl.edu	37	9	139912043	139912043	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:139912043G>A	ENST00000371605.3	-	16	2457	c.2310C>T	c.(2308-2310)atC>atT	p.I770I	ABCA2_ENST00000265662.5_Silent_p.I771I|ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000341511.6_Silent_p.I771I			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	770					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGTACTTCAGGATGGCGGTGA	0.597																																						dbGAP											0													67.0	78.0	74.0					9																	139912043		2161	4253	6414	-	-	-	SO:0001819	synonymous_variant	0			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2310C>T	9.37:g.139912043G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S121F	ENST00000371605.3	37	c.362		9																																																																																			ABCA2	-	NULL	ENSG00000107331		0.597	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		25	0.00	0	G	NM_001606		139912043	139912043	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000479446	ensembl	human	known	69_37n	missense	37	13.95	6	SNP	1.000	A
ABCE1	6059	genome.wustl.edu	37	4	146025645	146025645	+	Missense_Mutation	SNP	G	G	C	rs34265438	byFrequency	TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:146025645G>C	ENST00000296577.4	+	2	596	c.81G>C	c.(79-81)aaG>aaC	p.K27N	ABCE1_ENST00000502803.1_3'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	27	4Fe-4S ferredoxin-type 1. {ECO:0000255|PROSITE-ProRule:PRU00711}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					AATGCAAAAAGAGTTGTCCTG	0.368																																						dbGAP											0													95.0	83.0	87.0					4																	146025645		2203	4300	6503	-	-	-	SO:0001583	missense	0			X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.81G>C	4.37:g.146025645G>C	ENSP00000296577:p.Lys27Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E	p.K27N	ENST00000296577.4	37	c.81	CCDS34071.1	4	.	.	.	.	.	.	.	.	.	.	G	9.648	1.140708	0.21205	.	.	ENSG00000164163	ENST00000296577;ENST00000502586	D	0.91351	-2.83	5.17	2.47	0.30058	4Fe-4S ferredoxin, iron-sulpur binding domain (1);RNase L inhibitor RLI, possible metal-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89949	0.6863	M	0.76574	2.34	0.80722	D	1	B	0.21452	0.056	B	0.32724	0.151	D	0.84686	0.0720	10	0.44086	T	0.13	-11.041	11.0488	0.47874	0.2045:0.0:0.7955:0.0	.	27	P61221	ABCE1_HUMAN	N	27	ENSP00000296577:K27N	ENSP00000296577:K27N	K	+	3	2	ABCE1	146245095	1.000000	0.71417	1.000000	0.80357	0.070000	0.16714	3.029000	0.49712	0.257000	0.21650	0.655000	0.94253	AAG	ABCE1	-	pfam_RNaseL-inhib_metal-bd_dom,prints_ABC_E	ENSG00000164163		0.368	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCE1	HGNC	protein_coding	OTTHUMT00000365104.1	31	0.00	0	G	NM_002940		146025645	146025645	+1	no_errors	ENST00000296577	ensembl	human	known	69_37n	missense	33	15.38	6	SNP	1.000	C
ABCF1	23	genome.wustl.edu	37	6	30553699	30553699	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:30553699G>A	ENST00000326195.8	+	17	1756	c.1644G>A	c.(1642-1644)ctG>ctA	p.L548L	ABCF1_ENST00000376545.3_Silent_p.L510L|ABCF1_ENST00000396515.4_Intron|MIR877_ENST00000401282.1_RNA	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	548	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AAGAACTGCTGAAACAGTATG	0.552																																						dbGAP											0													26.0	22.0	23.0					6																	30553699		1509	2707	4216	-	-	-	SO:0001819	synonymous_variant	0			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1644G>A	6.37:g.30553699G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E299K	ENST00000326195.8	37	c.895	CCDS34380.1	6																																																																																			ABCF1	-	pfscan_ABC_transporter-like	ENSG00000204574		0.552	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABCF1	HGNC	protein_coding	OTTHUMT00000076137.3	30	0.00	0	G			30553699	30553699	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000475993	ensembl	human	known	69_37n	missense	15	46.43	13	SNP	1.000	A
ABCG1	9619	genome.wustl.edu	37	21	43714663	43714663	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr21:43714663C>T	ENST00000361802.2	+	14	1846	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F	ABCG1_ENST00000398437.1_Silent_p.F713F|ABCG1_ENST00000340588.4_Silent_p.F675F|ABCG1_ENST00000398457.2_Silent_p.F557F|ABCG1_ENST00000398449.3_Silent_p.F555F|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Silent_p.F566F|ABCG1_ENST00000347800.2_Silent_p.F552F	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	567	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TGGCCACTTTCGTGGGCCCAG	0.627																																						dbGAP											0													102.0	86.0	91.0					21																	43714663		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1701C>T	21.37:g.43714663C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	pfam_ABC_2_trans	p.R303C	ENST00000361802.2	37	c.907	CCDS13682.1	21	.	.	.	.	.	.	.	.	.	.	C	2.231	-0.376185	0.05034	.	.	ENSG00000160179	ENST00000489035;ENST00000469119	.	.	.	4.55	-2.88	0.05682	.	.	.	.	.	T	0.57651	0.2068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57359	-0.7825	4	.	.	.	-27.2681	12.1311	0.53944	0.0:0.1652:0.0:0.8348	.	.	.	.	C	303;291	.	.	R	+	1	0	ABCG1	42587732	0.072000	0.21174	0.863000	0.33907	0.223000	0.24884	-0.668000	0.05268	-0.370000	0.08016	-0.350000	0.07774	CGT	ABCG1	-	pfam_ABC_2_trans	ENSG00000160179		0.627	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	HGNC	protein_coding	OTTHUMT00000195318.2	44	0.00	0	C	NM_207174		43714663	43714663	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000489035	ensembl	human	putative	69_37n	missense	49	24.62	16	SNP	0.984	T
ACACA	31	genome.wustl.edu	37	17	35444078	35444078	+	3'UTR	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:35444078C>T	ENST00000394406.2	-	0	7404				ACACA_ENST00000360679.3_3'UTR|ACACA_ENST00000353139.5_3'UTR|ACACA_ENST00000335166.5_3'UTR	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha						acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAGGGGGATTCTGTGATCTTA	0.512																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.*173G>A	17.37:g.35444078C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	NULL	p.R67K	ENST00000394406.2	37	c.200	CCDS11317.1	17																																																																																			ACACA	-	NULL	ENSG00000132142		0.512	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	58	0.00	0	C	NM_198836		35444078	35444078	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000586821	ensembl	human	putative	69_37n	missense	46	17.86	10	SNP	0.287	T
ACCSL	390110	genome.wustl.edu	37	11	44072129	44072129	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:44072129G>A	ENST00000378832.1	+	3	648	c.592G>A	c.(592-594)Gag>Aag	p.E198K		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	198					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						GAACTGCATTGAGGACACCTT	0.468																																						dbGAP											0													205.0	205.0	205.0					11																	44072129		1989	4179	6168	-	-	-	SO:0001583	missense	0				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.592G>A	11.37:g.44072129G>A	ENSP00000368109:p.Glu198Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase	p.E198K	ENST00000378832.1	37	c.592	CCDS41636.1	11	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984824	0.53934	.	.	ENSG00000205126	ENST00000378832	D	0.90069	-2.61	5.08	5.08	0.68730	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.456429	0.26220	N	0.025640	D	0.87354	0.6156	L	0.59436	1.845	0.38758	D	0.954255	B	0.32382	0.368	B	0.35114	0.196	D	0.85892	0.1429	10	0.27082	T	0.32	-3.6168	16.0109	0.80402	0.0:0.0:1.0:0.0	.	198	Q4AC99	1A1L2_HUMAN	K	198	ENSP00000368109:E198K	ENSP00000368109:E198K	E	+	1	0	ACCSL	44028705	1.000000	0.71417	0.067000	0.19924	0.003000	0.03518	5.434000	0.66526	2.642000	0.89623	0.655000	0.94253	GAG	ACCSL	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase	ENSG00000205126		0.468	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCSL	HGNC	protein_coding	OTTHUMT00000389717.1	72	0.00	0	G	NM_001031854		44072129	44072129	+1	no_errors	ENST00000378832	ensembl	human	known	69_37n	missense	59	30.59	26	SNP	0.617	A
ACCS	84680	genome.wustl.edu	37	11	44089193	44089193	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:44089193C>G	ENST00000263776.8	+	2	450	c.16C>G	c.(16-18)Caa>Gaa	p.Q6E	ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_Missense_Mutation_p.Q6E	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	6					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						CACCCTTCCTCAAAAGGACTT	0.542																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	dbGAP											0													82.0	83.0	83.0					11																	44089193		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.16C>G	11.37:g.44089193C>G	ENSP00000263776:p.Gln6Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase	p.Q6E	ENST00000263776.8	37	c.16	CCDS7907.1	11	.	.	.	.	.	.	.	.	.	.	C	9.536	1.112091	0.20795	.	.	ENSG00000110455	ENST00000524990;ENST00000263776;ENST00000432284;ENST00000533404	T;T;T;T	0.59906	1.04;0.23;1.04;0.84	5.28	0.715	0.18186	.	1.461700	0.04066	N	0.307288	T	0.45397	0.1340	L	0.36672	1.1	0.09310	N	1	B;B	0.17667	0.023;0.0	B;B	0.15052	0.012;0.001	T	0.29610	-1.0006	10	0.48119	T	0.1	-1.3083	2.5915	0.04844	0.3959:0.3663:0.1419:0.096	.	6;6	B4E219;Q96QU6	.;1A1L1_HUMAN	E	6	ENSP00000434156:Q6E;ENSP00000263776:Q6E;ENSP00000391775:Q6E;ENSP00000435919:Q6E	ENSP00000263776:Q6E	Q	+	1	0	ACCS	44045769	0.892000	0.30473	0.003000	0.11579	0.016000	0.09150	0.303000	0.19210	0.210000	0.20664	0.555000	0.69702	CAA	ACCS	-	NULL	ENSG00000110455		0.542	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCS	HGNC	protein_coding	OTTHUMT00000389721.1	111	0.00	0	C	NM_032592		44089193	44089193	+1	no_errors	ENST00000263776	ensembl	human	known	69_37n	missense	89	19.82	22	SNP	0.002	G
ACAT1	38	genome.wustl.edu	37	11	108009651	108009651	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:108009651G>A	ENST00000265838.4	+	6	553	c.462G>A	c.(460-462)gaG>gaA	p.E154E		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	154					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	GTGGGATGGAGAGCATGTCCA	0.418																																						dbGAP											0													214.0	187.0	196.0					11																	108009651		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	607809	"""acetyl-Coenzyme A acetyltransferase 1"""	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.462G>A	11.37:g.108009651G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	pfam_Thiolase_N,superfamily_Thiolase-like	p.E121K	ENST00000265838.4	37	c.361	CCDS8339.1	11	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675825	0.88445	.	.	ENSG00000075239	ENST00000528370	D	0.96619	-4.07	5.74	3.79	0.43588	.	0.000000	0.85682	D	0.000000	D	0.96917	0.8993	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.97014	0.9738	7	0.87932	D	0	-29.3896	11.5786	0.50879	0.1531:0.0:0.8469:0.0	.	.	.	.	K	90	ENSP00000436096:E90K	ENSP00000436096:E90K	E	+	1	0	ACAT1	107514861	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.893000	0.69798	1.361000	0.45981	0.603000	0.83216	GAG	ACAT1	-	superfamily_Thiolase-like	ENSG00000075239		0.418	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAT1	HGNC	protein_coding	OTTHUMT00000389474.1	97	0.00	0	G	NM_000019		108009651	108009651	+1	no_errors	ENST00000531813	ensembl	human	known	69_37n	missense	86	10.42	10	SNP	1.000	A
ACIN1	22985	genome.wustl.edu	37	14	23564243	23564243	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:23564243C>T	ENST00000262710.1	-	1	580	c.253G>A	c.(253-255)Gag>Aag	p.E85K	C14orf119_ENST00000554203.1_5'Flank|ACIN1_ENST00000555053.1_Missense_Mutation_p.E85K|C14orf119_ENST00000319074.4_5'UTR|ACIN1_ENST00000457657.1_Missense_Mutation_p.E85K|ACIN1_ENST00000605057.1_Missense_Mutation_p.E27K	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	85	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CCTCGCTGCTCCAGTGCGGCC	0.662																																						dbGAP											0													36.0	36.0	36.0					14																	23564243		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.253G>A	14.37:g.23564243C>T	ENSP00000262710:p.Glu85Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.E85K	ENST00000262710.1	37	c.253	CCDS9587.1	14	.	.	.	.	.	.	.	.	.	.	C	35	5.594523	0.96602	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.16073	2.38;2.38;2.37	5.54	5.54	0.83059	DNA-binding SAP (3);	0.000000	0.37955	N	0.001880	T	0.34193	0.0889	L	0.39898	1.24	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	T	0.00428	-1.1745	10	0.30854	T	0.27	-14.2196	18.4191	0.90582	0.0:1.0:0.0:0.0	.	85;85	G3V3M7;Q9UKV3	.;ACINU_HUMAN	K	85	ENSP00000262710:E85K;ENSP00000405677:E85K;ENSP00000451328:E85K	ENSP00000262710:E85K	E	-	1	0	ACIN1	22634083	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.772000	0.55325	2.884000	0.98904	0.655000	0.94253	GAG	ACIN1	-	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	ENSG00000100813		0.662	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3	62	0.00	0	C	NM_014977		23564243	23564243	-1	no_errors	ENST00000262710	ensembl	human	known	69_37n	missense	63	10.00	7	SNP	1.000	T
ACOT4	122970	genome.wustl.edu	37	14	74058884	74058884	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:74058884G>A	ENST00000326303.4	+	1	475	c.221G>A	c.(220-222)gGa>gAa	p.G74E		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	74					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		AGCTTCGCGGGACTCGAGCCC	0.692																																						dbGAP											0													13.0	14.0	14.0					14																	74058884		2141	4170	6311	-	-	-	SO:0001583	missense	0			BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"""Acyl CoA thioesterases"""	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.221G>A	14.37:g.74058884G>A	ENSP00000323071:p.Gly74Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.G74E	ENST00000326303.4	37	c.221	CCDS9817.1	14	.	.	.	.	.	.	.	.	.	.	G	35	5.425295	0.96131	.	.	ENSG00000177465	ENST00000326303	T	0.54071	0.59	4.93	4.93	0.64822	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.79257	0.4415	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84657	0.0704	10	0.87932	D	0	-15.3666	18.4959	0.90865	0.0:0.0:1.0:0.0	.	74	Q8N9L9	ACOT4_HUMAN	E	74	ENSP00000323071:G74E	ENSP00000323071:G74E	G	+	2	0	ACOT4	73128637	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.891000	0.92485	2.438000	0.82558	0.462000	0.41574	GGA	ACOT4	-	pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	ENSG00000177465		0.692	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT4	HGNC	protein_coding	OTTHUMT00000404298.2	38	0.00	0	G	NM_152331		74058884	74058884	+1	no_errors	ENST00000326303	ensembl	human	known	69_37n	missense	44	12.00	6	SNP	1.000	A
ACP2	53	genome.wustl.edu	37	11	47269662	47269662	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:47269662G>C	ENST00000256997.3	-	2	253	c.137C>G	c.(136-138)tCa>tGa	p.S46*	ACP2_ENST00000529788.1_Nonsense_Mutation_p.S46*|NR1H3_ENST00000481889.2_5'Flank|NR1H3_ENST00000395397.3_5'Flank|ACP2_ENST00000533929.1_Nonsense_Mutation_p.S18*|ACP2_ENST00000529444.1_Nonsense_Mutation_p.S46*|NR1H3_ENST00000405576.1_5'Flank|NR1H3_ENST00000407404.1_5'Flank|ACP2_ENST00000527256.1_Intron|ACP2_ENST00000444355.2_Nonsense_Mutation_p.S46*|ACP2_ENST00000530453.1_Nonsense_Mutation_p.S46*|ACP2_ENST00000537863.1_5'UTR	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	46					dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						CTTCACTGGTGAACGGTCTCC	0.522																																					Melanoma(90;262 1440 11488 44828 48531)	dbGAP											0													137.0	124.0	128.0					11																	47269662		2201	4298	6499	-	-	-	SO:0001587	stop_gained	0			X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575	3.1.3.2		123	protein-coding gene	gene with protein product		171650				975882	Standard	NM_001610		Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000256997.3:c.137C>G	11.37:g.47269662G>C	ENSP00000256997:p.Ser46*	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PCI1|Q561W5|Q9BTU7	Nonsense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.S46*	ENST00000256997.3	37	c.137	CCDS7928.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.106525	0.94292	.	.	ENSG00000134575	ENST00000256997;ENST00000529444;ENST00000540414;ENST00000533929;ENST00000529663;ENST00000530453;ENST00000444355;ENST00000529788	.	.	.	5.65	5.65	0.86999	.	0.056510	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4819	0.90815	0.0:0.0:1.0:0.0	.	.	.	.	X	46;46;46;18;46;46;46;46	.	ENSP00000256997:S46X	S	-	2	0	ACP2	47226238	1.000000	0.71417	0.078000	0.20375	0.997000	0.91878	8.869000	0.92326	2.653000	0.90120	0.561000	0.74099	TCA	ACP2	-	pfam_His_Pase_superF_clade-2	ENSG00000134575		0.522	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACP2	HGNC	protein_coding	OTTHUMT00000392022.2	63	0.00	0	G	NM_001610		47269662	47269662	-1	no_errors	ENST00000256997	ensembl	human	known	69_37n	nonsense	51	10.53	6	SNP	0.907	C
ACRBP	84519	genome.wustl.edu	37	12	6756134	6756134	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:6756134G>C	ENST00000229243.2	-	2	181	c.88C>G	c.(88-90)Cag>Gag	p.Q30E	ACRBP_ENST00000536350.1_Missense_Mutation_p.Q30E|ACRBP_ENST00000414226.2_Missense_Mutation_p.Q30E	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						GTGGAGGCCTGAGTCGAATCC	0.627																																						dbGAP											0													60.0	61.0	61.0					12																	6756134		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.88C>G	12.37:g.6756134G>C	ENSP00000229243:p.Gln30Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Proacrosin-bd	p.Q30E	ENST00000229243.2	37	c.88	CCDS8554.1	12	.	.	.	.	.	.	.	.	.	.	G	11.50	1.658328	0.29425	.	.	ENSG00000111644	ENST00000229243;ENST00000414226;ENST00000536350;ENST00000546114	T;T	0.40476	1.03;1.03	4.19	0.368	0.16146	.	1.636650	0.03727	N	0.252841	T	0.28433	0.0703	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17107	-1.0380	10	0.37606	T	0.19	3.7147	4.3922	0.11346	0.387:0.3299:0.283:0.0	.	30;30	E7EP66;Q8NEB7	.;ACRBP_HUMAN	E	30	ENSP00000229243:Q30E;ENSP00000402725:Q30E	ENSP00000229243:Q30E	Q	-	1	0	ACRBP	6626395	0.000000	0.05858	0.000000	0.03702	0.382000	0.30200	-0.050000	0.11904	0.175000	0.19841	-0.390000	0.06520	CAG	ACRBP	-	pfam_Proacrosin-bd	ENSG00000111644		0.627	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACRBP	HGNC	protein_coding	OTTHUMT00000400703.1	58	0.00	0	G	NM_032489		6756134	6756134	-1	no_errors	ENST00000229243	ensembl	human	known	69_37n	missense	41	22.64	12	SNP	0.000	C
ADA	100	genome.wustl.edu	37	20	43249486	43249486	+	Intron	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:43249486C>G	ENST00000372874.4	-	10	1110				ADA_ENST00000537820.1_Intron|PKIG_ENST00000372882.3_Intron|Z97053.1_ENST00000597250.1_5'Flank|ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372887.1_Intron	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase						adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	GGTCCTAGGTCAGGACGTCAA	0.493									Adenosine Deaminase Deficiency																													dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.975+172G>C	20.37:g.43249486C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53F92|Q6LA59	RNA	SNP	-	NULL	ENST00000372874.4	37	NULL	CCDS13335.1	20																																																																																			ADA	-	-	ENSG00000196839		0.493	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADA	HGNC	protein_coding	OTTHUMT00000080509.2	17	0.00	0	C	NM_000022		43249486	43249486	-1	no_errors	ENST00000464097	ensembl	human	known	69_37n	rna	26	27.78	10	SNP	0.003	G
ADAM22	53616	genome.wustl.edu	37	7	87743932	87743932	+	Silent	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:87743932C>G	ENST00000265727.7	+	6	586	c.507C>G	c.(505-507)ctC>ctG	p.L169L	ADAM22_ENST00000315984.7_Silent_p.L169L|ADAM22_ENST00000398201.4_Silent_p.L169L|ADAM22_ENST00000398209.3_Silent_p.L169L|ADAM22_ENST00000398204.4_Silent_p.L169L|ADAM22_ENST00000439864.1_Silent_p.L169L			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	169					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ACACATATCTCATTGAGCCAG	0.398																																						dbGAP											0													186.0	177.0	180.0					7																	87743932		1907	4130	6037	-	-	-	SO:0001819	synonymous_variant	0			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.507C>G	7.37:g.87743932C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.L169	ENST00000265727.7	37	c.507	CCDS47637.1	7																																																																																			ADAM22	-	pfam_Peptidase_M12B_N	ENSG00000008277		0.398	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	HGNC	protein_coding	OTTHUMT00000268370.2	42	0.00	0	C	NM_021723		87743932	87743932	+1	no_errors	ENST00000265727	ensembl	human	known	69_37n	silent	41	18.00	9	SNP	1.000	G
ADCY10P1	221442	genome.wustl.edu	37	6	41089095	41089095	+	RNA	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:41089095G>A	ENST00000567255.1	+	0	2468					NR_026938.2				adenylate cyclase 10 (soluble) pseudogene 1																		CCAATGCCATGAAATCCATAA	0.373																																						dbGAP											0																																										-	-	-			0					6p21.1	2012-07-04			ENSG00000161912	ENSG00000161912			44143	pseudogene	pseudogene							Standard	NR_026938		Approved		uc010jxi.1		OTTHUMG00000014668		6.37:g.41089095G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000567255.1	37	NULL		6																																																																																			ADCY10P1	-	-	ENSG00000161912		0.373	ADCY10P1-002	KNOWN	non_canonical_polymorphism|basic	processed_transcript	ADCY10P1	HGNC	pseudogene	OTTHUMT00000436223.1	45	0.00	0	G	NR_026938		41089095	41089095	+1	no_errors	ENST00000567255	ensembl	human	known	69_37n	rna	52	14.52	9	SNP	0.997	A
ADCY2	108	genome.wustl.edu	37	5	7690768	7690768	+	Intron	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:7690768G>C	ENST00000338316.4	+	5	809				ADCY2_ENST00000537121.1_Intron|ADCY2_ENST00000513693.1_3'UTR	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CGAGGTGTCTGAGAGACATTT	0.507																																						dbGAP											0													33.0	31.0	32.0					5																	7690768		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.721-36G>C	5.37:g.7690768G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	RNA	SNP	-	NULL	ENST00000338316.4	37	NULL	CCDS3872.2	5																																																																																			ADCY2	-	-	ENSG00000078295		0.507	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	35	0.00	0	G	NM_020546		7690768	7690768	+1	no_errors	ENST00000513693	ensembl	human	putative	69_37n	rna	33	22.73	10	SNP	0.000	C
ADCY3	109	genome.wustl.edu	37	2	25044484	25044484	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:25044484C>G	ENST00000260600.5	-	19	3880	c.3029G>C	c.(3028-3030)tGg>tCg	p.W1010S	ADCY3_ENST00000405392.1_Missense_Mutation_p.W597S|CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1010					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)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CAGGTGCTGCCAGCGCTCTCT	0.597																																						dbGAP											0													154.0	145.0	148.0					2																	25044484		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.3029G>C	2.37:g.25044484C>G	ENSP00000260600:p.Trp1010Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.W1010S	ENST00000260600.5	37	c.3029	CCDS1715.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.067991	0.93950	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	T;T	0.28069	1.63;1.63	5.91	5.91	0.95273	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	N	0.04820	-0.15	0.80722	D	1	D;D;B	0.89917	0.969;1.0;0.288	D;D;B	0.87578	0.948;0.998;0.225	T	0.49960	-0.8883	10	0.52906	T	0.07	.	19.8914	0.96931	0.0:1.0:0.0:0.0	.	1011;1010;597	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	S	1010;597;985	ENSP00000260600:W1010S;ENSP00000384484:W597S	ENSP00000260600:W1010S	W	-	2	0	ADCY3	24897988	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.050000	0.71063	2.813000	0.96785	0.655000	0.94253	TGG	ADCY3	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000138031		0.597	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY3	HGNC	protein_coding	OTTHUMT00000211574.2	30	0.00	0	C			25044484	25044484	-1	no_errors	ENST00000260600	ensembl	human	known	69_37n	missense	32	28.89	13	SNP	1.000	G
ADORA3	140	genome.wustl.edu	37	1	112043256	112043256	+	Intron	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:112043256G>C	ENST00000241356.4	-	2	756				ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000486342.1_5'UTR|ADORA3_ENST00000369716.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor						activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	GTAAAGGAGAGAGAGAGAGGT	0.453																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.351-78C>G	1.37:g.112043256G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3P4|Q6UWU0|Q9BYZ1	RNA	SNP	-	NULL	ENST00000241356.4	37	NULL	CCDS839.1	1																																																																																			ADORA3	-	-	ENSG00000121933		0.453	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA3	HGNC	protein_coding	OTTHUMT00000033065.1	17	0.00	0	G	NM_000677, NM_020683		112043256	112043256	-1	no_errors	ENST00000486342	ensembl	human	putative	69_37n	rna	14	22.22	4	SNP	0.002	C
ADRB3	155	genome.wustl.edu	37	8	37823802	37823802	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:37823802G>C	ENST00000345060.3	-	1	681	c.186C>G	c.(184-186)atC>atG	p.I62M	ADRB3_ENST00000520341.1_5'Flank	NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	62					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|aging (GO:0007568)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|diet induced thermogenesis (GO:0002024)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|generation of precursor metabolites and energy (GO:0006091)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of MAPK cascade (GO:0043410)|response to antibiotic (GO:0046677)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta-adrenergic receptor activity (GO:0004939)|beta3-adrenergic receptor activity (GO:0015052)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Bethanidine(DB00217)|Bopindolol(DB08807)|Bupranolol(DB08808)|Clenbuterol(DB01407)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Isoprenaline(DB01064)|Mephentermine(DB01365)|Mirabegron(DB08893)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Propranolol(DB00571)|Trimipramine(DB00726)	GAGTCCAGGCGATGGCCACGA	0.706																																						dbGAP											0			GRCh37	CM060800	ADRB3	M							27.0	29.0	29.0					8																	37823802		2203	4296	6499	-	-	-	SO:0001583	missense	0			AY487247	CCDS6099.1	8p12	2012-08-08	2012-05-09			ENSG00000188778		"""GPCR / Class A : Adrenoceptors : beta"""	288	protein-coding gene	gene with protein product		109691	"""adrenergic, beta-3-, receptor"""			7898940, 15123695	Standard	NM_000025		Approved		uc003xkr.2	P13945		ENST00000345060.3:c.186C>G	8.37:g.37823802G>C	ENSP00000343782:p.Ile62Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4JFT4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Adrgc_rcpt_B3,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_5HT6_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.I62M	ENST00000345060.3	37	c.186	CCDS6099.1	8	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679549	0.47886	.	.	ENSG00000188778	ENST00000345060	T	0.23348	1.91	4.42	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	0.065864	0.64402	D	0.000010	T	0.57021	0.2025	H	0.94423	3.535	0.43622	D	0.996006	D	0.89917	1.0	D	0.91635	0.999	T	0.64622	-0.6364	10	0.87932	D	0	.	8.0229	0.30419	0.0871:0.0:0.7517:0.1612	.	62	P13945	ADRB3_HUMAN	M	62	ENSP00000343782:I62M	ENSP00000343782:I62M	I	-	3	3	ADRB3	37942959	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	1.831000	0.39141	2.463000	0.83235	0.462000	0.41574	ATC	ADRB3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_5HT6_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000188778		0.706	ADRB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRB3	HGNC	protein_coding	OTTHUMT00000376826.1	62	0.00	0	G	NM_000025		37823802	37823802	-1	no_errors	ENST00000345060	ensembl	human	known	69_37n	missense	93	13.76	15	SNP	1.000	C
AGGF1	55109	genome.wustl.edu	37	5	76342394	76342394	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:76342394G>C	ENST00000312916.7	+	6	1475	c.1093G>C	c.(1093-1095)Gat>Cat	p.D365H		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	365					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		CATGGAGACTGATAGTGAACC	0.383																																						dbGAP											0													128.0	135.0	132.0					5																	76342394		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.1093G>C	5.37:g.76342394G>C	ENSP00000316109:p.Asp365His	Somatic		WXS	Illumina GAIIx	Phase_IV	O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom	p.D365H	ENST00000312916.7	37	c.1093	CCDS4035.1	5	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106079	0.77096	.	.	ENSG00000164252	ENST00000312916	T	0.39592	1.07	5.43	5.43	0.79202	.	0.395608	0.30630	N	0.009202	T	0.50120	0.1597	L	0.34521	1.04	0.80722	D	1	D	0.55800	0.973	P	0.55161	0.77	T	0.52019	-0.8631	10	0.72032	D	0.01	-16.8437	19.2314	0.93842	0.0:0.0:1.0:0.0	.	365	Q8N302	AGGF1_HUMAN	H	365	ENSP00000316109:D365H	ENSP00000316109:D365H	D	+	1	0	AGGF1	76378150	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.854000	0.86942	2.551000	0.86045	0.591000	0.81541	GAT	AGGF1	-	NULL	ENSG00000164252		0.383	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGGF1	HGNC	protein_coding	OTTHUMT00000219971.2	13	0.00	0	G	NM_018046		76342394	76342394	+1	no_errors	ENST00000312916	ensembl	human	known	69_37n	missense	15	31.82	7	SNP	1.000	C
AFF4	27125	genome.wustl.edu	37	5	132270373	132270373	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:132270373C>T	ENST00000265343.5	-	3	763	c.384G>A	c.(382-384)caG>caA	p.Q128Q	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Silent_p.Q128Q	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	128	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATGTCCACTCTGTAAGCCTG	0.527																																					Ovarian(126;889 1733 2942 10745 11605)	dbGAP											0													99.0	94.0	96.0					5																	132270373		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.384G>A	5.37:g.132270373C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Silent	SNP	pfam_TF_AF4/FMR2	p.Q128	ENST00000265343.5	37	c.384	CCDS4164.1	5																																																																																			AFF4	-	pfam_TF_AF4/FMR2	ENSG00000072364		0.527	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF4	HGNC	protein_coding	OTTHUMT00000133049.1	35	0.00	0	C	NM_014423		132270373	132270373	-1	no_errors	ENST00000265343	ensembl	human	known	69_37n	silent	46	11.54	6	SNP	1.000	T
AGRN	375790	genome.wustl.edu	37	1	981250	981250	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:981250G>A	ENST00000379370.2	+	15	2724	c.2674G>A	c.(2674-2676)Gaa>Aaa	p.E892K		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	892	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CGCGGGCTGTGAAGCTGGTGA	0.687																																						dbGAP											0													42.0	50.0	47.0					1																	981250		2203	4298	6501	-	-	-	SO:0001583	missense	0			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.2674G>A	1.37:g.981250G>A	ENSP00000368678:p.Glu892Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_EGF_laminin,pfam_SEA,pfam_EGF-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl,smart_FacI_MAC,smart_Fol_N,smart_Prot_inh_Kazal,smart_EGF-like,smart_EGF_laminin,smart_SEA,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA	p.E892K	ENST00000379370.2	37	c.2674	CCDS30551.1	1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.467573	0.63625	.	.	ENSG00000188157	ENST00000379370	T	0.76316	-1.01	5.46	4.49	0.54785	EGF-like, laminin (1);	0.075842	0.51477	D	0.000096	T	0.77691	0.4168	N	0.17082	0.46	0.51233	D	0.999915	P	0.51240	0.943	P	0.62089	0.898	T	0.79310	-0.1856	10	0.46703	T	0.11	-19.3357	15.6283	0.76882	0.0:0.2467:0.7533:0.0	.	892	O00468	AGRIN_HUMAN	K	892	ENSP00000368678:E892K	ENSP00000368678:E892K	E	+	1	0	AGRN	971113	1.000000	0.71417	0.999000	0.59377	0.030000	0.12068	3.155000	0.50700	2.548000	0.85928	0.655000	0.94253	GAA	AGRN	-	smart_EGF-like,pfscan_EGF_laminin	ENSG00000188157		0.687	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGRN	HGNC	protein_coding	OTTHUMT00000097990.2	61	0.00	0	G	NM_198576		981250	981250	+1	no_errors	ENST00000379370	ensembl	human	known	69_37n	missense	58	22.67	17	SNP	1.000	A
AHNAK2	113146	genome.wustl.edu	37	14	105414834	105414834	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:105414834G>C	ENST00000333244.5	-	7	7073	c.6954C>G	c.(6952-6954)ttC>ttG	p.F2318L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2318						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGCATTTTGAACTTGCTGT	0.602																																						dbGAP											0													215.0	236.0	229.0					14																	105414834		2050	4196	6246	-	-	-	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6954C>G	14.37:g.105414834G>C	ENSP00000353114:p.Phe2318Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.F2318L	ENST00000333244.5	37	c.6954	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	N	0.240	-1.014707	0.02095	.	.	ENSG00000185567	ENST00000333244	T	0.02837	4.14	3.76	3.76	0.43208	.	.	.	.	.	T	0.06781	0.0173	L	0.35723	1.085	0.22081	N	0.999377	D	0.67145	0.996	D	0.77557	0.99	T	0.10753	-1.0616	9	0.06236	T	0.91	.	11.3413	0.49535	0.0:0.1849:0.8151:0.0	.	2318	Q8IVF2	AHNK2_HUMAN	L	2318	ENSP00000353114:F2318L	ENSP00000353114:F2318L	F	-	3	2	AHNAK2	104485879	0.891000	0.30450	1.000000	0.80357	0.115000	0.19883	0.020000	0.13466	1.624000	0.50355	0.306000	0.20318	TTC	AHNAK2	-	NULL	ENSG00000185567		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	77	0.00	0	G	NM_138420		105414834	105414834	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	missense	93	23.14	28	SNP	1.000	C
AHRR	57491	genome.wustl.edu	37	5	353864	353864	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:353864G>C	ENST00000505113.1	+	3	138	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	AHRR_ENST00000512529.1_Intron|AHRR_ENST00000316418.5_Missense_Mutation_p.E32Q|AHRR_ENST00000515206.1_Missense_Mutation_p.E28Q	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	32	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CGTGGGGGCAGAGAAGTCCAA	0.667																																						dbGAP											0													44.0	54.0	51.0					5																	353864		2011	4162	6173	-	-	-	SO:0001583	missense	0			AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.94G>C	5.37:g.353864G>C	ENSP00000424601:p.Glu32Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pfscan_PAS,pfscan_HLH_DNA-bd	p.E32Q	ENST00000505113.1	37	c.94	CCDS56355.1	5	.	.	.	.	.	.	.	.	.	.	g	12.36	1.915027	0.33815	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000510400;ENST00000515206;ENST00000504625	T;T;T	0.50548	2.0;2.03;0.74	4.51	4.51	0.55191	Helix-loop-helix DNA-binding (1);	0.846965	0.10510	N	0.666233	T	0.62221	0.2410	M	0.79123	2.44	0.80722	D	1	D;P	0.53312	0.959;0.928	P;P	0.51487	0.556;0.671	T	0.62455	-0.6851	10	0.44086	T	0.13	.	15.0388	0.71770	0.0:0.0:1.0:0.0	.	32;32	A9YTQ3;A9YTQ3-2	AHRR_HUMAN;.	Q	32;32;28;28;28	ENSP00000424601:E32Q;ENSP00000323816:E32Q;ENSP00000428893:E28Q	ENSP00000323816:E32Q	E	+	1	0	AHRR	406864	1.000000	0.71417	0.830000	0.32933	0.171000	0.22731	5.978000	0.70501	2.208000	0.71279	0.561000	0.74099	GAG	AHRR	-	pfscan_HLH_DNA-bd	ENSG00000063438		0.667	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	AHRR	HGNC	protein_coding	OTTHUMT00000367720.1	53	0.00	0	G	NM_020731		353864	353864	+1	no_errors	ENST00000316418	ensembl	human	known	69_37n	missense	53	11.67	7	SNP	0.982	C
AJUBA	84962	genome.wustl.edu	37	14	23442685	23442685	+	Silent	SNP	G	G	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:23442685G>T	ENST00000262713.2	-	8	1959	c.1584C>A	c.(1582-1584)ctC>ctA	p.L528L	AJUBA_ENST00000361265.4_Silent_p.L528L|AJUBA_ENST00000397388.3_Silent_p.L111L|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	528	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L528L(1)									GTCGGGCATTGAGCCGCTGCA	0.592											OREG0022591	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - coding silent(1)	breast(1)											91.0	77.0	82.0					14																	23442685		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1584C>A	14.37:g.23442685G>T		Somatic	763	WXS	Illumina GAIIx	Phase_IV	A8MX18|D3DS37	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.L528	ENST00000262713.2	37	c.1584	CCDS9581.1	14																																																																																			AJUBA	-	pfscan_Znf_LIM	ENSG00000129474		0.592	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AJUBA	HGNC	protein_coding	OTTHUMT00000071685.2	37	0.00	0	G			23442685	23442685	-1	no_errors	ENST00000262713	ensembl	human	known	69_37n	silent	35	22.22	10	SNP	0.998	T
AKAP11	11215	genome.wustl.edu	37	13	42873670	42873670	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr13:42873670C>T	ENST00000025301.2	+	8	963	c.788C>T	c.(787-789)tCt>tTt	p.S263F		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	263	Ser-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GAACTACCTTCTGTGAAAACT	0.393																																						dbGAP											0													98.0	94.0	95.0					13																	42873670		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.788C>T	13.37:g.42873670C>T	ENSP00000025301:p.Ser263Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O75124|Q9NUK7	Missense_Mutation	SNP	NULL	p.S263F	ENST00000025301.2	37	c.788	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200668	0.58126	.	.	ENSG00000023516	ENST00000025301	T	0.41065	1.01	5.43	5.43	0.79202	.	0.066244	0.64402	D	0.000008	T	0.57184	0.2036	L	0.47716	1.5	0.42726	D	0.99369	D	0.63880	0.993	P	0.60415	0.874	T	0.59016	-0.7533	10	0.87932	D	0	.	19.6166	0.95636	0.0:1.0:0.0:0.0	.	263	Q9UKA4	AKA11_HUMAN	F	263	ENSP00000025301:S263F	ENSP00000025301:S263F	S	+	2	0	AKAP11	41771670	0.997000	0.39634	0.996000	0.52242	0.868000	0.49771	3.913000	0.56394	2.721000	0.93114	0.655000	0.94253	TCT	AKAP11	-	NULL	ENSG00000023516		0.393	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	22	0.00	0	C	NM_016248		42873670	42873670	+1	no_errors	ENST00000025301	ensembl	human	known	69_37n	missense	23	14.81	4	SNP	0.997	T
AKAP3	10566	genome.wustl.edu	37	12	4737352	4737352	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:4737352G>C	ENST00000545990.2	-	5	1240	c.716C>G	c.(715-717)tCt>tGt	p.S239C	AKAP3_ENST00000228850.1_Missense_Mutation_p.S239C|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	239					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						ATAGAAGAAAGACTTCTTAGA	0.443																																						dbGAP											0													113.0	113.0	113.0					12																	4737352		2203	4300	6503	-	-	-	SO:0001583	missense	0			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.716C>G	12.37:g.4737352G>C	ENSP00000440994:p.Ser239Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.S239C	ENST00000545990.2	37	c.716	CCDS8531.1	12	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801352	0.50315	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.10763	2.84;2.84	4.88	4.88	0.63580	A-kinase anchor 110kDa, C-terminal (1);	0.110537	0.41396	D	0.000884	T	0.31606	0.0802	M	0.72118	2.19	0.36526	D	0.870467	D	0.89917	1.0	D	0.91635	0.999	T	0.20571	-1.0271	10	0.87932	D	0	.	13.7142	0.62687	0.0:0.0:1.0:0.0	.	239	O75969	AKAP3_HUMAN	C	239	ENSP00000228850:S239C;ENSP00000440994:S239C	ENSP00000228850:S239C	S	-	2	0	AKAP3	4607613	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	1.960000	0.40422	2.679000	0.91253	0.655000	0.94253	TCT	AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000111254		0.443	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	49	0.00	0	G	NM_006422		4737352	4737352	-1	no_errors	ENST00000228850	ensembl	human	known	69_37n	missense	62	26.19	22	SNP	1.000	C
ALDH1A3	220	genome.wustl.edu	37	15	101447368	101447368	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr15:101447368G>A	ENST00000329841.5	+	11	1808	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.E319K|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	426					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)	p.E426K(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	CAAAAGTATCGAAGAAGTGAT	0.428																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											136.0	121.0	126.0					15																	101447368		2203	4300	6503	-	-	-	SO:0001583	missense	0			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.1276G>A	15.37:g.101447368G>A	ENSP00000332256:p.Glu426Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NT64	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.E426K	ENST00000329841.5	37	c.1276	CCDS10389.1	15	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806661	0.70682	.	.	ENSG00000184254	ENST00000329841;ENST00000346623	T	0.19250	2.16	4.27	4.27	0.50696	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.357947	0.31636	N	0.007319	T	0.34454	0.0898	M	0.66439	2.03	0.51767	D	0.999931	D;B	0.54964	0.969;0.013	P;B	0.49597	0.616;0.007	T	0.35051	-0.9804	10	0.66056	D	0.02	.	17.0504	0.86517	0.0:0.0:1.0:0.0	.	330;426	Q7Z3A2;P47895	.;AL1A3_HUMAN	K	426;330	ENSP00000332256:E426K	ENSP00000332256:E426K	E	+	1	0	ALDH1A3	99264891	1.000000	0.71417	0.909000	0.35828	0.814000	0.46013	5.316000	0.65815	2.046000	0.60703	0.650000	0.86243	GAA	ALDH1A3	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000184254		0.428	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A3	HGNC	protein_coding	OTTHUMT00000313620.2	39	0.00	0	G			101447368	101447368	+1	no_errors	ENST00000329841	ensembl	human	known	69_37n	missense	34	12.82	5	SNP	0.998	A
ALDOA	226	genome.wustl.edu	37	16	30077131	30077131	+	5'UTR	SNP	C	C	T	rs574106376	byFrequency	TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:30077131C>T	ENST00000564546.1	+	0	663				ALDOA_ENST00000395240.3_5'UTR|ALDOA_ENST00000569798.1_5'UTR|ALDOA_ENST00000395248.1_Intron|ALDOA_ENST00000563060.2_Intron|ALDOA_ENST00000412304.2_Intron|ALDOA_ENST00000569545.1_Intron|ALDOA_ENST00000564595.2_5'UTR|ALDOA_ENST00000566897.1_Intron|ALDOA_ENST00000338110.5_Intron			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate						actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						GCGTTCCTCTCGGAACGCGCC	0.711																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000564546.1:c.-139C>T	16.37:g.30077131C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	RNA	SNP	-	NULL	ENST00000564546.1	37	NULL	CCDS10668.1	16																																																																																			ALDOA	-	-	ENSG00000149925		0.711	ALDOA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALDOA	HGNC	protein_coding	OTTHUMT00000255145.3	50	0.00	0	C	NM_000034		30077131	30077131	+1	no_errors	ENST00000566012	ensembl	human	known	69_37n	rna	33	34.00	17	SNP	0.791	T
AMY2B	280	genome.wustl.edu	37	1	104114773	104114773	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:104114773C>T	ENST00000361355.4	+	4	826	c.210C>T	c.(208-210)ttC>ttT	p.F70F	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	70					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ACAACCCTTTCAGACCTTGGT	0.343																																						dbGAP											0													154.0	149.0	151.0					1																	104114773		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.210C>T	1.37:g.104114773C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTI1|B3KXB7|D3DT76|Q9UBH3	Silent	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.F70	ENST00000361355.4	37	c.210	CCDS782.1	1																																																																																			AMY2B	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000240038		0.343	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	HGNC	protein_coding	OTTHUMT00000030318.1	198	0.00	0	C	NM_020978		104114773	104114773	+1	no_errors	ENST00000361355	ensembl	human	known	69_37n	silent	184	13.62	29	SNP	0.336	T
ANK2	287	genome.wustl.edu	37	4	114278026	114278026	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:114278026C>T	ENST00000357077.4	+	38	8305	c.8252C>T	c.(8251-8253)tCc>tTc	p.S2751F	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S2718F|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2751					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CATGCTGTTTCCACTGAGGCT	0.433																																						dbGAP											0													75.0	69.0	71.0					4																	114278026		2203	4300	6503	-	-	-	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8252C>T	4.37:g.114278026C>T	ENSP00000349588:p.Ser2751Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.S2751F	ENST00000357077.4	37	c.8252	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	C	12.18	1.862041	0.32884	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.69926	-0.43;-0.44	5.48	3.66	0.41972	.	0.920816	0.09168	N	0.839286	T	0.69584	0.3127	L	0.56769	1.78	0.09310	N	0.999992	D;D	0.59767	0.976;0.986	P;P	0.51135	0.459;0.66	T	0.54997	-0.8209	9	.	.	.	.	7.8959	0.29706	0.0:0.7328:0.1765:0.0908	.	2718;2751	Q01484;Q01484-4	ANK2_HUMAN;.	F	2751;2718	ENSP00000349588:S2751F;ENSP00000264366:S2718F	.	S	+	2	0	ANK2	114497475	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.073000	0.14640	0.582000	0.29556	-0.345000	0.07892	TCC	ANK2	-	NULL	ENSG00000145362		0.433	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	17	0.00	0	C	NM_001148		114278026	114278026	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	missense	8	27.27	3	SNP	0.001	T
ANKRD27	84079	genome.wustl.edu	37	19	33131255	33131255	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:33131255G>C	ENST00000306065.4	-	11	1099	c.941C>G	c.(940-942)tCa>tGa	p.S314*	ANKRD27_ENST00000587352.1_Nonsense_Mutation_p.S314*	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	314	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TAACAGGACTGATAGCAGATC	0.428																																						dbGAP											0													131.0	119.0	123.0					19																	33131255		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.941C>G	19.37:g.33131255G>C	ENSP00000304292:p.Ser314*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt	p.S314*	ENST00000306065.4	37	c.941	CCDS32986.1	19	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816504	0.90790	.	.	ENSG00000105186	ENST00000306065	.	.	.	5.08	5.08	0.68730	.	0.000000	0.48286	D	0.000195	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-14.0292	18.8496	0.92222	0.0:0.0:1.0:0.0	.	.	.	.	X	314	.	ENSP00000304292:S314X	S	-	2	0	ANKRD27	37823095	1.000000	0.71417	0.148000	0.22405	0.211000	0.24417	6.514000	0.73746	2.524000	0.85096	0.557000	0.71058	TCA	ANKRD27	-	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	ENSG00000105186		0.428	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	HGNC	protein_coding	OTTHUMT00000450329.1	29	0.00	0	G	NM_032139		33131255	33131255	-1	no_errors	ENST00000306065	ensembl	human	known	69_37n	nonsense	37	17.78	8	SNP	0.932	C
ANKRD27	84079	genome.wustl.edu	37	19	33131262	33131262	+	Silent	SNP	G	G	A	rs377667999		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:33131262G>A	ENST00000306065.4	-	11	1092	c.934C>T	c.(934-936)Ctg>Ttg	p.L312L	ANKRD27_ENST00000587352.1_Silent_p.L312L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	312	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					ACTGATAGCAGATCATCAGCA	0.423																																						dbGAP											0													132.0	119.0	124.0					19																	33131262		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.934C>T	19.37:g.33131262G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt	p.L312	ENST00000306065.4	37	c.934	CCDS32986.1	19																																																																																			ANKRD27	-	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	ENSG00000105186		0.423	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	HGNC	protein_coding	OTTHUMT00000450329.1	31	0.00	0	G	NM_032139		33131262	33131262	-1	no_errors	ENST00000306065	ensembl	human	known	69_37n	silent	35	16.67	7	SNP	1.000	A
ANKRD28	23243	genome.wustl.edu	37	3	15749438	15749438	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:15749438C>A	ENST00000399451.2	-	14	1817	c.1450G>T	c.(1450-1452)Gat>Tat	p.D484Y	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.D517Y	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	484						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TACTTGCCATCTGTGTCTGAT	0.438																																						dbGAP											0													97.0	88.0	91.0					3																	15749438		2018	4185	6203	-	-	-	SO:0001583	missense	0			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1450G>T	3.37:g.15749438C>A	ENSP00000382379:p.Asp484Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D517Y	ENST00000399451.2	37	c.1549	CCDS46769.1	3	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792361	0.31685	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.65549	-0.16;-0.16;-0.16	6.07	6.07	0.98685	Ankyrin repeat-containing domain (3);	0.045224	0.85682	D	0.000000	T	0.55369	0.1916	L	0.31578	0.945	0.80722	D	1	B;B;B	0.25850	0.065;0.136;0.009	B;B;B	0.26614	0.071;0.071;0.055	T	0.46735	-0.9170	10	0.35671	T	0.21	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	517;514;484	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	Y	484;517;484	ENSP00000382379:D484Y;ENSP00000373287:D517Y;ENSP00000397341:D484Y	ENSP00000373287:D517Y	D	-	1	0	ANKRD28	15724442	1.000000	0.71417	0.987000	0.45799	0.023000	0.10783	5.914000	0.69964	2.885000	0.99019	0.655000	0.94253	GAT	ANKRD28	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000206560		0.438	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1	67	0.00	0	C	NM_015199		15749438	15749438	-1	no_errors	ENST00000383777	ensembl	human	known	69_37n	missense	56	15.15	10	SNP	1.000	A
ANKRD49	54851	genome.wustl.edu	37	11	94230086	94230086	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:94230086G>A	ENST00000544612.1	+	2	724	c.227G>A	c.(226-228)aGa>aAa	p.R76K	ANKRD49_ENST00000544253.1_Missense_Mutation_p.R76K|ANKRD49_ENST00000302755.4_Missense_Mutation_p.R76K|ANKRD49_ENST00000540349.1_Missense_Mutation_p.R76K	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	76					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GACCCAAGCAGATTGCTTCTT	0.403																																					Melanoma(113;823 1621 4352 9582 22033)	dbGAP											0													63.0	73.0	69.0					11																	94230086		2195	4294	6489	-	-	-	SO:0001583	missense	0			AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.227G>A	11.37:g.94230086G>A	ENSP00000440396:p.Arg76Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDF2|Q96JE5|Q9NXK7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R76K	ENST00000544612.1	37	c.227	CCDS8300.1	11	.	.	.	.	.	.	.	.	.	.	G	4.465	0.086138	0.08583	.	.	ENSG00000168876	ENST00000544612;ENST00000540349;ENST00000545130;ENST00000544253;ENST00000541144;ENST00000302755	T;T	0.70516	-0.49;-0.49	5.66	3.29	0.37713	Ankyrin repeat-containing domain (1);	0.316923	0.38548	N	0.001656	T	0.29061	0.0722	N	0.00146	-1.995	0.21325	N	0.999724	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34079	-0.9843	10	0.24483	T	0.36	-22.457	8.3462	0.32275	0.7984:0.1331:0.0686:0.0	.	76;76	F6R851;Q8WVL7	.;ANR49_HUMAN	K	76	ENSP00000440396:R76K;ENSP00000303518:R76K	ENSP00000303518:R76K	R	+	2	0	ANKRD49	93869734	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.619000	0.54196	0.412000	0.25729	-0.324000	0.08512	AGA	ANKRD49	-	smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000168876		0.403	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD49	HGNC	protein_coding	OTTHUMT00000396314.2	19	0.00	0	G	NM_017704		94230086	94230086	+1	no_errors	ENST00000302755	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	1.000	A
ANKS1A	23294	genome.wustl.edu	37	6	34985612	34985612	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:34985612G>A	ENST00000360359.3	+	11	1924	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	596					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGGTGGTGCTGAGGAAGGAGA	0.602																																						dbGAP											0													88.0	102.0	98.0					6																	34985612		2203	4300	6503	-	-	-	SO:0001583	missense	0			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1786G>A	6.37:g.34985612G>A	ENSP00000353518:p.Glu596Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt	p.E596K	ENST00000360359.3	37	c.1786	CCDS4798.1	6	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408685	0.42715	.	.	ENSG00000064999	ENST00000360359	T	0.37235	1.21	5.14	5.14	0.70334	.	0.000000	0.49916	D	0.000130	T	0.17066	0.0410	L	0.50333	1.59	0.80722	D	1	P	0.35433	0.501	B	0.27608	0.081	T	0.04165	-1.0972	10	0.14656	T	0.56	-25.151	17.1662	0.86817	0.0:0.0:1.0:0.0	.	596	Q92625	ANS1A_HUMAN	K	596	ENSP00000353518:E596K	ENSP00000353518:E596K	E	+	1	0	ANKS1A	35093590	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.878000	0.63093	2.545000	0.85829	0.655000	0.94253	GAG	ANKS1A	-	NULL	ENSG00000064999		0.602	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS1A	HGNC	protein_coding	OTTHUMT00000040262.1	31	0.00	0	G	XM_166478		34985612	34985612	+1	no_errors	ENST00000360359	ensembl	human	known	69_37n	missense	41	18.00	9	SNP	1.000	A
ANLN	54443	genome.wustl.edu	37	7	36446159	36446159	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:36446159C>G	ENST00000265748.2	+	4	1078	c.857C>G	c.(856-858)tCa>tGa	p.S286*	ANLN_ENST00000396068.2_Nonsense_Mutation_p.S286*	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	286	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GTTAATGCCTCAATTTCCAGC	0.423																																						dbGAP											0													235.0	226.0	229.0					7																	36446159		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.857C>G	7.37:g.36446159C>G	ENSP00000265748:p.Ser286*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S286*	ENST00000265748.2	37	c.857	CCDS5447.1	7	.	.	.	.	.	.	.	.	.	.	C	40	8.485198	0.98832	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	.	.	.	3.93	3.93	0.45458	.	1.364500	0.04719	N	0.419039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-8.15	14.2627	0.66094	0.0:1.0:0.0:0.0	.	.	.	.	X	286	.	ENSP00000265748:S286X	S	+	2	0	ANLN	36412684	0.001000	0.12720	0.009000	0.14445	0.968000	0.65278	0.257000	0.18369	2.485000	0.83878	0.650000	0.86243	TCA	ANLN	-	NULL	ENSG00000011426		0.423	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANLN	HGNC	protein_coding	OTTHUMT00000218582.3	91	0.00	0	C	NM_018685		36446159	36446159	+1	no_errors	ENST00000265748	ensembl	human	known	69_37n	nonsense	112	11.11	14	SNP	0.013	G
ANO1	55107	genome.wustl.edu	37	11	70034220	70034220	+	3'UTR	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:70034220C>T	ENST00000355303.5	+	0	3376				ANO1-AS1_ENST00000524987.1_RNA|ANO1_ENST00000530676.1_Intron|ANO1_ENST00000398543.2_3'UTR|ANO1_ENST00000538023.1_3'UTR|ANO1_ENST00000531349.1_3'UTR	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CCTGGGTTTTCTGCAAACATG	0.557																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.*110C>T	11.37:g.70034220C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAM3|Q8IYY8|Q8N7V3	RNA	SNP	-	NULL	ENST00000355303.5	37	NULL	CCDS44663.1	11																																																																																			ANO1-AS1	-	-	ENSG00000254902		0.557	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1-AS1	HGNC	protein_coding	OTTHUMT00000393685.1	60	0.00	0	C	NM_018043		70034220	70034220	-1	no_errors	ENST00000524987	ensembl	human	putative	69_37n	rna	54	28.95	22	SNP	0.000	T
ANO4	121601	genome.wustl.edu	37	12	101504219	101504219	+	Silent	SNP	T	T	C	rs190167099		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:101504219T>C	ENST00000392977.3	+	23	2397	c.2187T>C	c.(2185-2187)gcT>gcC	p.A729A	ANO4_ENST00000392979.3_Silent_p.A694A|ANO4_ENST00000550015.1_Silent_p.A249A|ANO4_ENST00000299222.9_Silent_p.A249A			Q32M45	ANO4_HUMAN	anoctamin 4	729					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTGTGGCAGCTTTTCCCCTAG	0.373										HNSCC(74;0.22)			T|||	1	0.000199681	0.0008	0.0	5008	,	,		15706	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													95.0	95.0	95.0					12																	101504219		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2187T>C	12.37:g.101504219T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NAJ0|Q8NB39|Q8NB53	Silent	SNP	pfam_Anoctamin	p.A729	ENST00000392977.3	37	c.2187		12																																																																																			ANO4	-	pfam_Anoctamin	ENSG00000151572		0.373	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	37	0.00	0	T	NM_178826		101504219	101504219	+1	no_errors	ENST00000392977	ensembl	human	known	69_37n	silent	61	12.86	9	SNP	0.986	C
ANO7P1	101927546	genome.wustl.edu	37	1	16543025	16543025	+	RNA	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:16543025C>T	ENST00000475369.1	-	0	281									anoctamin 7 pseudogene 1																		AGGTAGCGCTCGCGCAGTTAT	0.617																																						dbGAP											0																																										-	-	-			0					1p36.13	2014-02-13	2012-10-24	2012-10-24	ENSG00000237276	ENSG00000237276			32248	pseudogene	pseudogene			"""transmembrane protein 16M"", ""chromosome 1 open reading frame 224"", ""anoctamin 7-like 1"""	TMEM16M, C1orf224, ANO7L1			Standard	XM_006711098		Approved				OTTHUMG00000002221		1.37:g.16543025C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.A38	ENST00000475369.1	37	c.114		1																																																																																			ANO7L1	-	NULL	ENSG00000237276		0.617	ANO7P1-002	KNOWN	basic	processed_transcript	ANO7L1	HGNC	pseudogene	OTTHUMT00000006295.2	45	0.00	0	C			16543025	16543025	-1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000442385	ensembl	human	known	69_37n	silent	79	16.84	16	SNP	0.995	T
AP5S1	55317	genome.wustl.edu	37	20	3802782	3802782	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:3802782C>T	ENST00000246041.2	+	2	237	c.18C>T	c.(16-18)ctC>ctT	p.L6L	AP5S1_ENST00000379573.2_Silent_p.L6L|AP5S1_ENST00000379567.2_Silent_p.L6L			Q9NUS5	AP5S1_HUMAN	adaptor-related protein complex 5, sigma 1 subunit	6					double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)											ACGCCTTCCTCATTCACACCT	0.597																																						dbGAP											0													69.0	58.0	61.0					20																	3802782		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK002030	CCDS13070.1	20p13	2012-02-27	2012-02-27	2012-02-27	ENSG00000125843	ENSG00000125843			15875	protein-coding gene	gene with protein product		614824	"""chromosome 20 open reading frame 29"""	C20orf29		11780052, 22022230	Standard	NM_001204446		Approved	FLJ11168	uc002wjs.2	Q9NUS5	OTTHUMG00000031760	ENST00000246041.2:c.18C>T	20.37:g.3802782C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSD0|D3DVY7	Silent	SNP	NULL	p.L6	ENST00000246041.2	37	c.18	CCDS13070.1	20																																																																																			AP5S1	-	NULL	ENSG00000125843		0.597	AP5S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5S1	HGNC	protein_coding	OTTHUMT00000077768.2	64	0.00	0	C	NM_018347		3802782	3802782	+1	no_errors	ENST00000246041	ensembl	human	known	69_37n	silent	78	13.33	12	SNP	0.999	T
APAF1	317	genome.wustl.edu	37	12	99043451	99043451	+	Missense_Mutation	SNP	C	C	G	rs147932236		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:99043451C>G	ENST00000551964.1	+	4	1251	c.515C>G	c.(514-516)tCc>tGc	p.S172C	APAF1_ENST00000549007.1_Missense_Mutation_p.S172C|APAF1_ENST00000357310.1_Missense_Mutation_p.S172C|APAF1_ENST00000339433.3_Missense_Mutation_p.S172C|APAF1_ENST00000359972.2_Missense_Mutation_p.S161C|APAF1_ENST00000333991.1_Missense_Mutation_p.S172C|APAF1_ENST00000550527.1_Missense_Mutation_p.S161C|APAF1_ENST00000547045.1_Missense_Mutation_p.S172C|APAF1_ENST00000552268.1_Missense_Mutation_p.S172C	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	172	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	AGAGATCATTCCCTTTTAGAA	0.378																																						dbGAP											0													82.0	75.0	78.0					12																	99043451		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.515C>G	12.37:g.99043451C>G	ENSP00000448165:p.Ser172Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep	p.S172C	ENST00000551964.1	37	c.515	CCDS9069.1	12	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931169	0.34096	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	D;D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.55	-3.43	0.04810	NB-ARC (1);	1.569910	0.02634	N	0.104680	T	0.74038	0.3664	L	0.40543	1.245	0.09310	N	1	P;P;P;P;P	0.45634	0.817;0.705;0.817;0.648;0.863	B;B;B;B;B	0.42738	0.396;0.388;0.388;0.23;0.119	T	0.64740	-0.6336	10	0.59425	D	0.04	-4.1042	0.627	0.00788	0.3978:0.1517:0.2299:0.2206	.	172;172;161;172;161	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	C	172;161;172;172;172;172;161;172;172	ENSP00000448165:S172C;ENSP00000353059:S161C;ENSP00000349862:S172C;ENSP00000341830:S172C;ENSP00000334558:S172C;ENSP00000448826:S172C;ENSP00000448449:S161C;ENSP00000449791:S172C;ENSP00000448161:S172C	ENSP00000334558:S172C	S	+	2	0	APAF1	97567582	0.000000	0.05858	0.030000	0.17652	0.866000	0.49608	0.144000	0.16135	-0.238000	0.09724	0.655000	0.94253	TCC	APAF1	-	pfam_NB-ARC,pirsf_Apoptotic_pept-activating_1	ENSG00000120868		0.378	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408006.1	43	0.00	0	C	NM_181861.1		99043451	99043451	+1	no_errors	ENST00000551964	ensembl	human	known	69_37n	missense	29	27.50	11	SNP	0.000	G
APOBR	55911	genome.wustl.edu	37	16	28509153	28509153	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:28509153G>A	ENST00000431282.1	+	3	2774	c.2764G>A	c.(2764-2766)Gag>Aag	p.E922K	APOBR_ENST00000564831.1_Missense_Mutation_p.E931K|CLN3_ENST00000567160.1_5'Flank|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.E922K			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	922	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CCGGAGGGCAGAGGCCAAGGA	0.652																																						dbGAP											0													20.0	26.0	24.0					16																	28509153		2187	4297	6484	-	-	-	SO:0001583	missense	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.2764G>A	16.37:g.28509153G>A	ENSP00000416094:p.Glu922Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.E931K	ENST00000431282.1	37	c.2791		16	.	.	.	.	.	.	.	.	.	.	G	15.73	2.921172	0.52653	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.61859	0.07;0.07	4.25	3.2	0.36748	.	.	.	.	.	T	0.43567	0.1253	L	0.27053	0.805	0.09310	N	1	P;P	0.35348	0.496;0.496	B;B	0.35114	0.196;0.196	T	0.40021	-0.9585	9	0.87932	D	0	-6.796	8.7654	0.34700	0.0:0.0:0.7746:0.2254	.	922;922	Q0VD83;Q9NS13	APOBR_HUMAN;.	K	922	ENSP00000327669:E922K;ENSP00000416094:E922K	ENSP00000327669:E922K	E	+	1	0	APOBR	28416654	0.995000	0.38212	0.060000	0.19600	0.034000	0.12701	3.122000	0.50446	2.072000	0.62099	0.457000	0.33378	GAG	APOBR	-	NULL	ENSG00000184730		0.652	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		37	0.00	0	G	NM_182804		28509153	28509153	+1	no_errors	ENST00000564831	ensembl	human	known	69_37n	missense	23	28.12	9	SNP	0.108	A
AQR	9716	genome.wustl.edu	37	15	35210546	35210546	+	Nonsense_Mutation	SNP	G	G	A	rs201701152		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr15:35210546G>A	ENST00000156471.5	-	15	1480	c.1255C>T	c.(1255-1257)Cag>Tag	p.Q419*		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	419					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTCAACTGCTGAATCTGAGAA	0.343																																						dbGAP											0													97.0	88.0	91.0					15																	35210546		1838	4085	5923	-	-	-	SO:0001587	stop_gained	0			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1255C>T	15.37:g.35210546G>A	ENSP00000156471:p.Gln419*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Nonsense_Mutation	SNP	NULL	p.Q419*	ENST00000156471.5	37	c.1255	CCDS42013.1	15	.	.	.	.	.	.	.	.	.	.	G	38	6.657091	0.97739	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	.	.	.	4.74	4.74	0.60224	.	0.103781	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-11.036	17.925	0.88980	0.0:0.0:1.0:0.0	.	.	.	.	X	419	.	ENSP00000156471:Q419X	Q	-	1	0	AQR	32997838	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.494000	0.66905	2.474000	0.83562	0.491000	0.48974	CAG	AQR	-	NULL	ENSG00000021776		0.343	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	HGNC	protein_coding	OTTHUMT00000417526.2	36	0.00	0	G	NM_014691		35210546	35210546	-1	no_errors	ENST00000156471	ensembl	human	known	69_37n	nonsense	18	33.33	9	SNP	1.000	A
AR	367	genome.wustl.edu	37	X	66937361	66937361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:66937361C>T	ENST00000374690.3	+	5	2739	c.2215C>T	c.(2215-2217)Cag>Tag	p.Q739*	AR_ENST00000396043.2_Nonsense_Mutation_p.Q207*|AR_ENST00000396044.3_Intron	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	738	Interaction with KAT7.|Interaction with LPXN.|Ligand-binding.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	GGCTGTCATTCAGTACTCCTG	0.542									Androgen Insensitivity Syndrome																													dbGAP											0													138.0	93.0	108.0					X																	66937361		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2215C>T	X.37:g.66937361C>T	ENSP00000363822:p.Gln739*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUN2|B1AKD7|Q9UD95	Nonsense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.Q739*	ENST00000374690.3	37	c.2215	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	c	36	5.894289	0.97074	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000396043	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.5346	0.67950	0.0:1.0:0.0:0.0	.	.	.	.	X	549;739;207	.	ENSP00000363822:Q739X	Q	+	1	0	AR	66854086	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.648000	0.83479	2.306000	0.77630	0.597000	0.82753	CAG	AR	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	ENSG00000169083		0.542	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	83	0.00	0	C	NM_000044		66937361	66937361	+1	no_errors	ENST00000374690	ensembl	human	known	69_37n	nonsense	75	21.88	21	SNP	1.000	T
ARFGAP2	84364	genome.wustl.edu	37	11	47193262	47193262	+	Silent	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:47193262G>C	ENST00000524782.1	-	9	990	c.762C>G	c.(760-762)ctC>ctG	p.L254L	ARFGAP2_ENST00000426335.2_Silent_p.L118L|ARFGAP2_ENST00000419701.2_Silent_p.L147L|RP11-390K5.6_ENST00000524412.1_RNA|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000319543.6_5'UTR	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	254	Required for interaction with coatomer.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCTGCTCACGGAGCTTCTCTG	0.622																																						dbGAP											0													65.0	68.0	67.0					11																	47193262		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"""ADP-ribosylation factor GTPase activating proteins"""	13504	protein-coding gene	gene with protein product		606908	"""zinc finger protein 289, ID1 regulated"""	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.762C>G	11.37:g.47193262G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Silent	SNP	pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.L254	ENST00000524782.1	37	c.762	CCDS7926.1	11																																																																																			ARFGAP2	-	NULL	ENSG00000149182		0.622	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGAP2	HGNC	protein_coding	OTTHUMT00000391425.1	73	0.00	0	G	NM_032389		47193262	47193262	-1	no_errors	ENST00000524782	ensembl	human	known	69_37n	silent	48	28.36	19	SNP	1.000	C
ARGFX	503582	genome.wustl.edu	37	3	121304892	121304892	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:121304892C>G	ENST00000334384.3	+	4	403	c.393C>G	c.(391-393)ttC>ttG	p.F131L		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		ACCGGCGATTCAAATTGAAGA	0.517																																						dbGAP											0													73.0	72.0	73.0					3																	121304892		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"""Homeoboxes / PRD class"""	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.393C>G	3.37:g.121304892C>G	ENSP00000335578:p.Phe131Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.F131L	ENST00000334384.3	37	c.393	CCDS33834.1	3	.	.	.	.	.	.	.	.	.	.	C	10.69	1.419917	0.25552	.	.	ENSG00000186103	ENST00000334384	D	0.95885	-3.84	3.39	2.43	0.29744	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.157137	0.30329	N	0.009874	D	0.90703	0.7083	L	0.38175	1.15	0.22710	N	0.998821	P	0.41366	0.747	B	0.41202	0.35	D	0.84388	0.0553	10	0.52906	T	0.07	-4.8333	5.4375	0.16490	0.0:0.8217:0.0:0.1783	.	131	A6NJG6	ARGFX_HUMAN	L	131	ENSP00000335578:F131L	ENSP00000335578:F131L	F	+	3	2	ARGFX	122787582	0.984000	0.35163	0.548000	0.28192	0.748000	0.42578	1.837000	0.39201	0.897000	0.36392	0.561000	0.74099	TTC	ARGFX	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000186103		0.517	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARGFX	HGNC	protein_coding	OTTHUMT00000355096.2	42	0.00	0	C	NM_001012659		121304892	121304892	+1	no_errors	ENST00000334384	ensembl	human	known	69_37n	missense	32	21.95	9	SNP	0.641	G
ARHGAP33	115703	genome.wustl.edu	37	19	36268731	36268731	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:36268731C>T	ENST00000007510.4	+	3	254	c.110C>T	c.(109-111)tCa>tTa	p.S37L	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.S37L|ARHGAP33_ENST00000378944.5_5'UTR|ARHGAP33_ENST00000221905.1_3'UTR			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	37					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCCAGGCTCTCAGCTCCTCGA	0.607																																						dbGAP											0													80.0	83.0	82.0					19																	36268731		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.110C>T	19.37:g.36268731C>T	ENSP00000007510:p.Ser37Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.S37L	ENST00000007510.4	37	c.110		19	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916778	0.92249	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000221905	T;T	0.11821	3.03;2.74	5.42	4.39	0.52855	.	0.351640	0.23254	N	0.050203	T	0.13970	0.0338	L	0.46157	1.445	0.44570	D	0.997533	B;P	0.37731	0.021;0.607	B;B	0.34652	0.013;0.187	T	0.02721	-1.1119	10	0.72032	D	0.01	.	13.0687	0.59048	0.0:0.9207:0.0:0.0793	.	55;37	O14559-12;O14559-11	.;.	L	37;37;55	ENSP00000007510:S37L;ENSP00000320038:S37L	ENSP00000007510:S37L	S	+	2	0	ARHGAP33	40960571	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	5.225000	0.65294	1.298000	0.44778	0.556000	0.70494	TCA	ARHGAP33	-	NULL	ENSG00000004777		0.607	ARHGAP33-201	KNOWN	basic	protein_coding	ARHGAP33	HGNC	protein_coding		37	0.00	0	C	NM_052948		36268731	36268731	+1	no_errors	ENST00000007510	ensembl	human	known	69_37n	missense	36	23.40	11	SNP	0.998	T
ARHGEF1	9138	genome.wustl.edu	37	19	42392332	42392332	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:42392332G>C	ENST00000354532.3	+	3	242	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E32Q|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E47Q|ARHGEF1_ENST00000596957.1_Intron|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.E47Q|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.E32Q	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	32					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TGAGGATTTTGAGAACGAGCT	0.622																																						dbGAP											0													139.0	153.0	148.0					19																	42392332		2203	4300	6503	-	-	-	SO:0001583	missense	0			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.94G>C	19.37:g.42392332G>C	ENSP00000346532:p.Glu32Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E47Q	ENST00000354532.3	37	c.139	CCDS12591.1	19	.	.	.	.	.	.	.	.	.	.	g	17.73	3.461009	0.63513	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	T;T;T;T	0.70399	-0.15;-0.27;-0.16;-0.48	3.7	3.7	0.42460	.	0.225081	0.25610	U	0.029493	T	0.70552	0.3237	N	0.24115	0.695	0.36563	D	0.872545	D;D;D;D;D	0.69078	0.995;0.997;0.958;0.983;0.993	P;P;P;P;P	0.60609	0.821;0.877;0.674;0.694;0.813	T	0.77930	-0.2403	10	0.56958	D	0.05	-6.8143	13.3966	0.60856	0.0:0.0:1.0:0.0	.	47;47;32;32;92	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	Q	32;32;68;47;47	ENSP00000346532:E32Q;ENSP00000344429:E32Q;ENSP00000337261:E47Q;ENSP00000367394:E47Q	ENSP00000323044:E68Q	E	+	1	0	ARHGEF1	47084172	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.404000	0.73268	1.818000	0.53035	0.448000	0.29417	GAG	ARHGEF1	-	NULL	ENSG00000076928		0.622	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF1	HGNC	protein_coding	OTTHUMT00000463360.1	44	0.00	0	G	NM_199002		42392332	42392332	+1	no_errors	ENST00000378152	ensembl	human	known	69_37n	missense	28	15.15	5	SNP	1.000	C
ARHGEF12	23365	genome.wustl.edu	37	11	120346078	120346078	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:120346078C>G	ENST00000397843.2	+	33	3305	c.3139C>G	c.(3139-3141)Ctt>Gtt	p.L1047V	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.L1028V|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.L944V	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1047	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GGAAGACATTCTTGTATTGTT	0.358			T	MLL	AML																																	dbGAP		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													167.0	150.0	156.0					11																	120346078		1900	4118	6018	-	-	-	SO:0001583	missense	0			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3139C>G	11.37:g.120346078C>G	ENSP00000380942:p.Leu1047Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O15086|Q6P526	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L1028V	ENST00000397843.2	37	c.3082	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149259	0.78001	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.78816	-1.21;-1.21;-1.21	5.16	5.16	0.70880	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.43747	D	0.000533	D	0.85111	0.5622	M	0.71036	2.16	0.80722	D	1	D;D;D	0.71674	0.979;0.994;0.998	P;D;D	0.65010	0.86;0.931;0.91	D	0.85409	0.1136	10	0.51188	T	0.08	-13.2167	12.3832	0.55320	0.0:0.9225:0.0:0.0775	.	944;1028;1047	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	V	1047;1028;944	ENSP00000380942:L1047V;ENSP00000349056:L1028V;ENSP00000432984:L944V	ENSP00000349056:L1028V	L	+	1	0	ARHGEF12	119851288	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.919000	0.56439	2.539000	0.85634	0.655000	0.94253	CTT	ARHGEF12	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000196914		0.358	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	65	0.00	0	C	NM_015313		120346078	120346078	+1	no_errors	ENST00000356641	ensembl	human	known	69_37n	missense	38	32.76	19	SNP	1.000	G
ARHGEF26	26084	genome.wustl.edu	37	3	153840606	153840606	+	Silent	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:153840606C>A	ENST00000356448.4	+	2	1109	c.825C>A	c.(823-825)ctC>ctA	p.L275L	ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26_ENST00000465817.1_Silent_p.L275L|ARHGEF26-AS1_ENST00000491862.1_RNA|ARHGEF26-AS1_ENST00000479270.1_RNA|ARHGEF26_ENST00000465093.1_Silent_p.L275L	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	275					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						ACAAGAGACTCCTCAAGGTGC	0.547																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	dbGAP											0													28.0	32.0	31.0					3																	153840606		1893	4119	6012	-	-	-	SO:0001819	synonymous_variant	0			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.825C>A	3.37:g.153840606C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.L275	ENST00000356448.4	37	c.825	CCDS46938.1	3																																																																																			ARHGEF26	-	NULL	ENSG00000114790		0.547	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF26	HGNC	protein_coding	OTTHUMT00000353287.3	28	0.00	0	C	NM_015595		153840606	153840606	+1	no_errors	ENST00000356448	ensembl	human	known	69_37n	silent	27	12.90	4	SNP	0.000	A
ARHGEF38	54848	genome.wustl.edu	37	4	106569819	106569819	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:106569819C>T	ENST00000420470.2	+	7	1132	c.988C>T	c.(988-990)Ctg>Ttg	p.L330L	ARHGEF38_ENST00000508036.2_3'UTR	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	330	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						TCTGAAGATTCTGACCAGAGG	0.358																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AK000191	CCDS3670.1, CCDS56338.1	4q24	2012-07-24			ENSG00000236699	ENSG00000236699		"""Rho guanine nucleotide exchange factors"""	25968	protein-coding gene	gene with protein product							Standard	NM_001242729		Approved	FLJ20184	uc003hxv.2	Q9NXL2	OTTHUMG00000154752	ENST00000420470.2:c.988C>T	4.37:g.106569819C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JIB4	Silent	SNP	pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain	p.L330	ENST00000420470.2	37	c.988	CCDS56338.1	4																																																																																			ARHGEF38	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000236699		0.358	ARHGEF38-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	ARHGEF38	HGNC	protein_coding	OTTHUMT00000336934.3	50	0.00	0	C	NM_017700		106569819	106569819	+1	no_errors	ENST00000420470	ensembl	human	putative	69_37n	silent	23	17.86	5	SNP	1.000	T
ARHGEF40	55701	genome.wustl.edu	37	14	21546585	21546585	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:21546585G>A	ENST00000298694.4	+	10	2311	c.2184G>A	c.(2182-2184)ctG>ctA	p.L728L	ARHGEF40_ENST00000298693.3_Silent_p.L728L			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	728						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						ATCCCCGGCTGACGGCACTGC	0.632																																						dbGAP											0													58.0	62.0	61.0					14																	21546585		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2184G>A	14.37:g.21546585G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L728	ENST00000298694.4	37	c.2184	CCDS32041.1	14																																																																																			ARHGEF40	-	NULL	ENSG00000165801		0.632	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF40	HGNC	protein_coding	OTTHUMT00000413122.1	22	0.00	0	G			21546585	21546585	+1	no_errors	ENST00000298694	ensembl	human	known	69_37n	silent	27	20.59	7	SNP	0.949	A
ARHGEF7	8874	genome.wustl.edu	37	13	111955427	111955427	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr13:111955427G>A	ENST00000218789.5	+	21	2582	c.2085G>A	c.(2083-2085)atG>atA	p.M695I	ARHGEF7_ENST00000375736.4_Missense_Mutation_p.M636I|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.M721I|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.M711I|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.M636I			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	0					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGAAGAACATGAATGATCCTG	0.463																																						dbGAP											0													98.0	96.0	97.0					13																	111955427		2203	4300	6503	-	-	-	SO:0001583	missense	0			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000218789.5:c.2085G>A	13.37:g.111955427G>A	ENSP00000218789:p.Met695Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CH-domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain	p.M721I	ENST00000218789.5	37	c.2163		13	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119591	0.37436	.	.	ENSG00000102606	ENST00000370623;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737	T;T;T;T;T	0.51325	0.71;0.71;0.72;0.72;0.76	5.06	3.25	0.37280	.	.	.	.	.	T	0.45816	0.1361	L	0.57536	1.79	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.39251	-0.9623	9	0.51188	T	0.08	.	14.9519	0.71080	0.0:0.2722:0.7278:0.0	.	711	B7Z6G2	.	I	721;695;636;636;711	ENSP00000359657:M721I;ENSP00000218789:M695I;ENSP00000364888:M636I;ENSP00000397068:M636I;ENSP00000364889:M711I	ENSP00000218789:M695I	M	+	3	0	ARHGEF7	110753428	1.000000	0.71417	0.940000	0.37924	0.789000	0.44602	2.501000	0.45389	0.485000	0.27652	0.561000	0.74099	ATG	ARHGEF7	-	NULL	ENSG00000102606		0.463	ARHGEF7-001	NOVEL	basic	protein_coding	ARHGEF7	HGNC	protein_coding	OTTHUMT00000045805.3	28	0.00	0	G	NM_001113511		111955427	111955427	+1	no_errors	ENST00000370623	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	1.000	A
ARID1B	57492	genome.wustl.edu	37	6	157528715	157528715	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:157528715G>C	ENST00000350026.5	+	19	6402	c.6401G>C	c.(6400-6402)aGg>aCg	p.R2134T	ARID1B_ENST00000275248.4_Missense_Mutation_p.R2129T|ARID1B_ENST00000367148.1_Missense_Mutation_p.R2187T|ARID1B_ENST00000346085.5_Missense_Mutation_p.R2147T	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2134					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTAGCAGCAAGGGCCATAGCT	0.517																																						dbGAP											0													147.0	142.0	144.0					6																	157528715		2203	4296	6499	-	-	-	SO:0001583	missense	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.6401G>C	6.37:g.157528715G>C	ENSP00000055163:p.Arg2134Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.R2187T	ENST00000350026.5	37	c.6560	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547236	0.45383	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.35	5.35	0.76521	Armadillo-like helical (1);	0.044427	0.85682	D	0.000000	T	0.54240	0.1846	M	0.71296	2.17	0.80722	D	1	D;D;D	0.61080	0.989;0.986;0.986	P;P;P	0.57620	0.824;0.73;0.73	T	0.59053	-0.7526	10	0.87932	D	0	.	19.4281	0.94754	0.0:0.0:1.0:0.0	.	2134;2147;2129	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	T	2147;2134;2187;2129;1656	ENSP00000344546:R2147T;ENSP00000055163:R2134T;ENSP00000356116:R2187T;ENSP00000275248:R2129T;ENSP00000412835:R1656T	ENSP00000275248:R2129T	R	+	2	0	ARID1B	157570407	1.000000	0.71417	0.934000	0.37439	0.978000	0.69477	9.798000	0.99111	2.642000	0.89623	0.655000	0.94253	AGG	ARID1B	-	pfam_DUF3518,superfamily_ARM-type_fold	ENSG00000049618		0.517	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	36	0.00	0	G	NM_020732		157528715	157528715	+1	no_errors	ENST00000367148	ensembl	human	known	69_37n	missense	35	14.63	6	SNP	1.000	C
ASB3	51130	genome.wustl.edu	37	2	53831796	53831796	+	IGR	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:53831796G>C								RNU6-997P (34179 upstream) : AC008064.1 (46741 downstream)																							TAGAGAAGGAGAAGTGGTTGA	0.488																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															2.37:g.53831796G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL		37	NULL		2																																																																																			ASB3	-	-	ENSG00000115239	0	0.488					ASB3	HGNC			15	0.00	0	G			53831796	53831796	-1	no_errors	ENST00000490794	ensembl	human	putative	69_37n	rna	16	23.81	5	SNP	0.000	C
ASB3	51130	genome.wustl.edu	37	2	53831842	53831842	+	IGR	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:53831842G>A								RNU6-997P (34225 upstream) : AC008064.1 (46695 downstream)																							CCCAGGAACAGAAACCAGCCA	0.512																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															2.37:g.53831842G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL		37	NULL		2																																																																																			ASB3	-	-	ENSG00000115239	0	0.512					ASB3	HGNC			24	0.00	0	G			53831842	53831842	-1	no_errors	ENST00000490794	ensembl	human	putative	69_37n	rna	18	14.29	3	SNP	0.000	A
ASCC3	10973	genome.wustl.edu	37	6	100957291	100957291	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:100957291C>T	ENST00000369162.2	-	42	6924	c.6580G>A	c.(6580-6582)Gat>Aat	p.D2194N		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	2194					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTCAGGGAATCAGAGACCTTG	0.443																																						dbGAP											0													207.0	200.0	202.0					6																	100957291		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.6580G>A	6.37:g.100957291C>T	ENSP00000358159:p.Asp2194Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D2194N	ENST00000369162.2	37	c.6580	CCDS5046.1	6	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831837	0.50845	.	.	ENSG00000112249	ENST00000369162	T	0.57273	0.41	6.02	4.19	0.49359	.	0.185439	0.44902	D	0.000416	T	0.34890	0.0913	L	0.55481	1.735	0.80722	D	1	B	0.18166	0.026	B	0.18561	0.022	T	0.19063	-1.0317	10	0.44086	T	0.13	.	16.6473	0.85179	0.0:0.7547:0.2453:0.0	.	2194	Q8N3C0	HELC1_HUMAN	N	2194	ENSP00000358159:D2194N	ENSP00000358159:D2194N	D	-	1	0	ASCC3	101064012	0.984000	0.35163	0.615000	0.29064	0.571000	0.35966	2.139000	0.42149	0.810000	0.34279	0.650000	0.86243	GAT	ASCC3	-	NULL	ENSG00000112249		0.443	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	HGNC	protein_coding	OTTHUMT00000041632.2	40	0.00	0	C	NM_006828		100957291	100957291	-1	no_errors	ENST00000369162	ensembl	human	known	69_37n	missense	54	16.92	11	SNP	0.998	T
ASXL2	55252	genome.wustl.edu	37	2	25990551	25990551	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:25990551G>C	ENST00000435504.4	-	8	969	c.676C>G	c.(676-678)Caa>Gaa	p.Q226E	ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000497092.1_5'Flank|ASXL2_ENST00000336112.4_Missense_Mutation_p.Q198E			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	226	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGAGTTTTGAGGGCTGCCT	0.418																																						dbGAP											0													151.0	146.0	147.0					2																	25990551		1871	4103	5974	-	-	-	SO:0001583	missense	0					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.676C>G	2.37:g.25990551G>C	ENSP00000391447:p.Gln226Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.Q226E	ENST00000435504.4	37	c.676		2	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003323	0.54254	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.18016	2.25;2.24	5.63	5.63	0.86233	.	0.591876	0.15914	N	0.238471	T	0.26846	0.0657	M	0.62723	1.935	0.80722	D	1	P	0.52170	0.951	B	0.44224	0.444	T	0.04593	-1.0940	10	0.87932	D	0	-7.7599	18.2734	0.90076	0.0:0.0:1.0:0.0	.	226	Q76L83	ASXL2_HUMAN	E	226;198	ENSP00000391447:Q226E;ENSP00000337250:Q198E	ENSP00000337250:Q198E	Q	-	1	0	ASXL2	25844055	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	7.046000	0.76592	2.652000	0.90054	0.655000	0.94253	CAA	ASXL2	-	NULL	ENSG00000143970		0.418	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	70	0.00	0	G	NM_018263		25990551	25990551	-1	no_errors	ENST00000435504	ensembl	human	known	69_37n	missense	78	11.36	10	SNP	1.000	C
ATG16L2	89849	genome.wustl.edu	37	11	72525563	72525563	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:72525563C>T	ENST00000321297.5	+	1	211	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	ATG16L2_ENST00000534905.1_Missense_Mutation_p.R25W	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	25					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GCTGCGGCTTCGGGACCGTAC	0.741																																						dbGAP											0													19.0	21.0	21.0					11																	72525563		2168	4234	6402	-	-	-	SO:0001583	missense	0			AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.73C>T	11.37:g.72525563C>T	ENSP00000326340:p.Arg25Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Autophagy-rel_prot_16,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R25W	ENST00000321297.5	37	c.73	CCDS31634.1	11	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252769	0.80135	.	.	ENSG00000168010	ENST00000321297;ENST00000534905	T;T	0.46451	0.87;0.87	4.75	4.75	0.60458	Autophagy-related protein 16 (1);	0.663495	0.12502	N	0.463272	T	0.56307	0.1976	L	0.39245	1.2	0.45427	D	0.998408	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.54549	-0.8277	10	0.87932	D	0	.	13.1046	0.59239	0.0:1.0:0.0:0.0	.	25;25;25;24	B4E090;F5GWZ9;Q8NAA4;Q2VPK0	.;.;A16L2_HUMAN;.	W	25	ENSP00000326340:R25W;ENSP00000441189:R25W	ENSP00000326340:R25W	R	+	1	2	ATG16L2	72203211	0.992000	0.36948	1.000000	0.80357	0.428000	0.31595	0.943000	0.29030	2.460000	0.83146	0.655000	0.94253	CGG	ATG16L2	-	pfam_Autophagy-rel_prot_16	ENSG00000168010		0.741	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG16L2	HGNC	protein_coding	OTTHUMT00000397305.1	10	0.00	0	C	NM_033388		72525563	72525563	+1	no_errors	ENST00000321297	ensembl	human	known	69_37n	missense	26	23.53	8	SNP	1.000	T
ATM	472	genome.wustl.edu	37	11	108183212	108183212	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:108183212G>A	ENST00000452508.2	+	41	6182	c.5993G>A	c.(5992-5994)gGa>gAa	p.G1998E	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.G1998E			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1998	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GAAGAAACTGGAATAAGTTTA	0.328			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												dbGAP	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													76.0	87.0	84.0					11																	108183212		2201	4294	6495	-	-	-	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5993G>A	11.37:g.108183212G>A	ENSP00000388058:p.Gly1998Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.G1998E	ENST00000452508.2	37	c.5993	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773417	0.69992	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.01484	4.84;4.84	5.2	5.2	0.72013	PIK-related kinase (1);Armadillo-type fold (1);	0.267324	0.42682	D	0.000670	T	0.06600	0.0169	M	0.65975	2.015	0.80722	D	1	D;P	0.56968	0.978;0.73	P;B	0.51453	0.67;0.282	T	0.08207	-1.0733	10	0.62326	D	0.03	.	19.0933	0.93238	0.0:0.0:1.0:0.0	.	650;1998	E9PFP9;Q13315	.;ATM_HUMAN	E	1998	ENSP00000278616:G1998E;ENSP00000388058:G1998E	ENSP00000278616:G1998E	G	+	2	0	ATM	107688422	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.341000	0.65964	2.586000	0.87340	0.563000	0.77884	GGA	ATM	-	superfamily_ARM-type_fold,pfscan_PIK_FAT	ENSG00000149311		0.328	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	22	0.00	0	G	NM_000051		108183212	108183212	+1	no_errors	ENST00000278616	ensembl	human	known	69_37n	missense	10	47.37	9	SNP	1.000	A
ATP13A5	344905	genome.wustl.edu	37	3	193042777	193042777	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:193042777G>A	ENST00000342358.4	-	14	1667	c.1550C>T	c.(1549-1551)tCa>tTa	p.S517L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	517						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AGCCTGGCCTGAGGCAAAGCT	0.507																																						dbGAP											0													82.0	89.0	87.0					3																	193042777		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1550C>T	3.37:g.193042777G>A	ENSP00000341942:p.Ser517Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.S517L	ENST00000342358.4	37	c.1550	CCDS33914.1	3	.	.	.	.	.	.	.	.	.	.	G	6.036	0.375077	0.11409	.	.	ENSG00000187527	ENST00000342358	T	0.69435	-0.4	5.67	2.96	0.34315	ATPase, cation-transporting, domain N (1);HAD-like domain (1);	0.108387	0.41712	N	0.000833	T	0.63438	0.2511	M	0.80982	2.52	0.09310	N	0.999999	B	0.15141	0.012	B	0.22152	0.038	T	0.56745	-0.7928	10	0.40728	T	0.16	-0.4738	5.2303	0.15418	0.2262:0.0:0.6312:0.1426	.	517	Q4VNC0	AT135_HUMAN	L	517	ENSP00000341942:S517L	ENSP00000341942:S517L	S	-	2	0	ATP13A5	194525471	0.094000	0.21725	0.048000	0.18961	0.190000	0.23558	2.011000	0.40922	0.347000	0.23924	-0.137000	0.14449	TCA	ATP13A5	-	superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_unknown-pump-sp	ENSG00000187527		0.507	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	HGNC	protein_coding	OTTHUMT00000343012.1	19	0.00	0	G	NM_198505		193042777	193042777	-1	no_errors	ENST00000342358	ensembl	human	known	69_37n	missense	22	24.14	7	SNP	0.016	A
ATP1A1	476	genome.wustl.edu	37	1	116936219	116936219	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:116936219G>A	ENST00000295598.5	+	12	1786	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	ATP1A1_ENST00000369496.4_Missense_Mutation_p.E481K|ATP1A1_ENST00000537345.1_Missense_Mutation_p.E512K	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	512					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	GGGCGCCCCAGAAAGGATCCT	0.517																																						dbGAP											0													97.0	103.0	101.0					1																	116936219		2203	4300	6503	-	-	-	SO:0001583	missense	0			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1534G>A	1.37:g.116936219G>A	ENSP00000295598:p.Glu512Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.E512K	ENST00000295598.5	37	c.1534	CCDS887.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.483010	0.96307	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	D;D;D	0.87256	-2.23;-2.23;-2.23	4.63	4.63	0.57726	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.092826	0.64402	D	0.000001	D	0.94725	0.8298	M	0.92317	3.295	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	D	0.95639	0.8696	10	0.87932	D	0	.	18.0377	0.89309	0.0:0.0:1.0:0.0	.	512;512	F5H3A1;P05023	.;AT1A1_HUMAN	K	512;512;511;481	ENSP00000295598:E512K;ENSP00000445306:E512K;ENSP00000358508:E481K	ENSP00000295598:E512K	E	+	1	0	ATP1A1	116737742	1.000000	0.71417	0.645000	0.29479	0.926000	0.56050	9.469000	0.97679	2.562000	0.86427	0.650000	0.86243	GAA	ATP1A1	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_cation-ex_asu_euk	ENSG00000163399		0.517	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5	67	0.00	0	G	NM_001160233		116936219	116936219	+1	no_errors	ENST00000295598	ensembl	human	known	69_37n	missense	50	15.25	9	SNP	1.000	A
ATP8B1	5205	genome.wustl.edu	37	18	55398952	55398952	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr18:55398952C>T	ENST00000283684.4	-	1	87	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.E30K			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	30					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				AGTTCATCTTCTGTTTCATCA	0.463																																						dbGAP											0													276.0	252.0	260.0					18																	55398952		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.88G>A	18.37:g.55398952C>T	ENSP00000283684:p.Glu30Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BTP8	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.E30K	ENST00000283684.4	37	c.88	CCDS11965.1	18	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205159	0.79127	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.29655	1.56;1.56	5.25	5.25	0.73442	.	0.690632	0.14635	N	0.307574	T	0.30572	0.0769	L	0.36672	1.1	0.44937	D	0.997959	P	0.46395	0.877	B	0.40741	0.339	T	0.16778	-1.0391	10	0.59425	D	0.04	.	18.434	0.90638	0.0:1.0:0.0:0.0	.	30	O43520	AT8B1_HUMAN	K	30	ENSP00000283684:E30K;ENSP00000445359:E30K	ENSP00000283684:E30K	E	-	1	0	ATP8B1	53549950	0.999000	0.42202	0.999000	0.59377	0.939000	0.58152	5.231000	0.65327	2.454000	0.82982	0.591000	0.81541	GAA	ATP8B1	-	NULL	ENSG00000081923		0.463	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B1	HGNC	protein_coding	OTTHUMT00000256097.1	116	0.85	1	C	NM_005603		55398952	55398952	-1	no_errors	ENST00000283684	ensembl	human	known	69_37n	missense	102	25.00	34	SNP	1.000	T
ATR	545	genome.wustl.edu	37	3	142231157	142231157	+	Silent	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:142231157C>G	ENST00000350721.4	-	27	4918	c.4797G>C	c.(4795-4797)ctG>ctC	p.L1599L	ATR_ENST00000383101.3_Silent_p.L1535L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1599					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCTCAGCTTTCAGTGCCTGAA	0.398								Other conserved DNA damage response genes																														dbGAP											0													202.0	176.0	185.0					3																	142231157		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4797G>C	3.37:g.142231157C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.L1599	ENST00000350721.4	37	c.4797	CCDS3124.1	3																																																																																			ATR	-	NULL	ENSG00000175054		0.398	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	82	0.00	0	C	NM_001184		142231157	142231157	-1	no_errors	ENST00000350721	ensembl	human	known	69_37n	silent	78	16.13	15	SNP	0.978	G
ATRX	546	genome.wustl.edu	37	X	76937961	76937961	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:76937961C>G	ENST00000373344.5	-	9	3001	c.2787G>C	c.(2785-2787)caG>caC	p.Q929H	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.Q891H	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	929			Q -> E (in dbSNP:rs3088074). {ECO:0000269|Ref.4}.		ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AAGTAAAACTCTGCTCTTTCC	0.388			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															dbGAP		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											130.0	131.0	131.0					X																	76937961		2203	4296	6499	-	-	-	SO:0001583	missense	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2787G>C	X.37:g.76937961C>G	ENSP00000362441:p.Gln929His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q929H	ENST00000373344.5	37	c.2787	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	C	0.090	-1.168703	0.01660	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.92048	-2.95;-2.96	5.79	1.88	0.25563	.	0.479810	0.21799	N	0.068943	T	0.79592	0.4472	N	0.08118	0	0.09310	N	1	B;B;B	0.26935	0.005;0.164;0.102	B;B;B	0.28139	0.001;0.086;0.039	T	0.69566	-0.5111	10	0.56958	D	0.05	-2.338	2.5461	0.04737	0.1189:0.4999:0.1138:0.2673	.	861;891;929	P46100-6;P46100-4;P46100	.;.;ATRX_HUMAN	H	929;891;856	ENSP00000362441:Q929H;ENSP00000378967:Q891H	ENSP00000362441:Q929H	Q	-	3	2	ATRX	76824617	0.000000	0.05858	0.089000	0.20774	0.115000	0.19883	-0.498000	0.06420	0.181000	0.19994	0.513000	0.50165	CAG	ATRX	-	NULL	ENSG00000085224		0.388	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	54	0.00	0	C	NM_000489		76937961	76937961	-1	no_errors	ENST00000373344	ensembl	human	known	69_37n	missense	35	18.60	8	SNP	0.018	G
ATXN2	6311	genome.wustl.edu	37	12	111923576	111923576	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:111923576G>A	ENST00000377617.3	-	17	3039	c.2878C>T	c.(2878-2880)Cag>Tag	p.Q960*	ATXN2_ENST00000389153.4_Nonsense_Mutation_p.Q695*|ATXN2_ENST00000550104.1_Nonsense_Mutation_p.Q960*|ATXN2_ENST00000535949.1_Nonsense_Mutation_p.Q671*|ATXN2_ENST00000608853.1_Nonsense_Mutation_p.Q800*|ATXN2_ENST00000542287.2_Nonsense_Mutation_p.Q695*|AC002395.1_ENST00000581907.1_RNA	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	960	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CAAACAGGCTGAGTATAAACT	0.473																																						dbGAP											0													189.0	168.0	175.0					12																	111923576		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.2878C>T	12.37:g.111923576G>A	ENSP00000366843:p.Gln960*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLD4|Q6ZQZ7|Q99493	Nonsense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.Q960*	ENST00000377617.3	37	c.2878	CCDS31902.1	12	.	.	.	.	.	.	.	.	.	.	G	41	8.567667	0.98866	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-6.6821	19.8673	0.96808	0.0:0.0:1.0:0.0	.	.	.	.	X	13;695;960;960;695;671	.	ENSP00000366843:Q960X	Q	-	1	0	ATXN2	110407959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.650000	0.83521	2.709000	0.92574	0.655000	0.94253	CAG	ATXN2	-	NULL	ENSG00000204842		0.473	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3	29	0.00	0	G	NM_002973		111923576	111923576	-1	no_errors	ENST00000377617	ensembl	human	known	69_37n	nonsense	32	23.81	10	SNP	1.000	A
AVL9	23080	genome.wustl.edu	37	7	32535327	32535327	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:32535327G>A	ENST00000318709.4	+	1	227	c.6G>A	c.(4-6)gaG>gaA	p.E2E	LSM5_ENST00000409952.3_5'Flank|AVL9_ENST00000459629.1_3'UTR|AVL9_ENST00000404479.1_Silent_p.E2E|LSM5_ENST00000409909.3_5'Flank|AVL9_ENST00000409301.1_Silent_p.E2E	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	2					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						cgcccATGGAGAAGGCCAGGA	0.697																																						dbGAP											0													7.0	11.0	10.0					7																	32535327		1773	3555	5328	-	-	-	SO:0001819	synonymous_variant	0			D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.6G>A	7.37:g.32535327G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q92573	Silent	SNP	pfam_Secretory_pathway_prot_Avl9,pfam_DUF2347	p.E2	ENST00000318709.4	37	c.6	CCDS34613.1	7																																																																																			AVL9	-	NULL	ENSG00000105778		0.697	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	AVL9	HGNC	protein_coding	OTTHUMT00000328643.1	22	0.00	0	G	NM_015060		32535327	32535327	+1	no_errors	ENST00000404479	ensembl	human	known	69_37n	silent	15	40.00	10	SNP	0.993	A
AZGP1	563	genome.wustl.edu	37	7	99565725	99565725	+	Intron	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:99565725G>C	ENST00000292401.4	-	3	750				AZGP1_ENST00000483612.1_5'Flank|AZGP1_ENST00000411734.1_Silent_p.L219L	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CTCCTAGCCTGAGATCGTCTT	0.498																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.613+52C>G	7.37:g.99565725G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5T8|O60386|Q5XKQ4|Q8N4N0	Silent	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2	p.L219	ENST00000292401.4	37	c.657	CCDS5680.1	7																																																																																			AZGP1	-	NULL	ENSG00000160862		0.498	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZGP1	HGNC	protein_coding	OTTHUMT00000059387.4	120	0.00	0	G	NM_001185		99565725	99565725	-1	no_errors	ENST00000411734	ensembl	human	putative	69_37n	silent	100	17.21	21	SNP	0.007	C
B3GALTL	145173	genome.wustl.edu	37	13	31903641	31903641	+	Missense_Mutation	SNP	C	C	T	rs541884125		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr13:31903641C>T	ENST00000343307.4	+	15	1482	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	445					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CCTGCAGGCTCGGCCGGTGGA	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		19461	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													87.0	87.0	87.0					13																	31903641		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.1333C>T	13.37:g.31903641C>T	ENSP00000343002:p.Arg445Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP	pfam_Fringe-like	p.R445W	ENST00000343307.4	37	c.1333	CCDS9341.1	13	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492741	0.84962	.	.	ENSG00000187676	ENST00000343307	D	0.85013	-1.93	5.7	4.86	0.63082	.	0.113863	0.64402	D	0.000010	D	0.92662	0.7668	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93230	0.6616	10	0.72032	D	0.01	-24.3643	11.0442	0.47849	0.1287:0.8035:0.0:0.0678	.	445	Q6Y288	B3GLT_HUMAN	W	445	ENSP00000343002:R445W	ENSP00000343002:R445W	R	+	1	2	B3GALTL	30801641	0.997000	0.39634	0.986000	0.45419	0.947000	0.59692	2.955000	0.49121	1.420000	0.47138	0.585000	0.79938	CGG	B3GALTL	-	pfam_Fringe-like	ENSG00000187676		0.413	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALTL	HGNC	protein_coding	OTTHUMT00000044396.3	74	0.00	0	C	NM_194318		31903641	31903641	+1	no_errors	ENST00000343307	ensembl	human	known	69_37n	missense	54	11.48	7	SNP	0.998	T
B4GALT4	8702	genome.wustl.edu	37	3	118937545	118937545	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:118937545G>C	ENST00000483209.1	-	6	1390	c.749C>G	c.(748-750)tCt>tGt	p.S250C	B4GALT4_ENST00000393765.2_Missense_Mutation_p.S250C|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000460321.1_Intron|B4GALT4_ENST00000467604.1_Missense_Mutation_p.S250C|B4GALT4_ENST00000359213.3_Missense_Mutation_p.S250C			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	250					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GTAGTTGTTAGAGAATCCATT	0.498																																						dbGAP											0													145.0	137.0	140.0					3																	118937545		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"""Beta 4-glycosyltransferases"""	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.749C>G	3.37:g.118937545G>C	ENSP00000420161:p.Ser250Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68D68|Q9BSW3|Q9C078	Missense_Mutation	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.S250C	ENST00000483209.1	37	c.749	CCDS2986.1	3	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977880	0.92982	.	.	ENSG00000121578	ENST00000483209;ENST00000467604;ENST00000359213;ENST00000393765	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.92	5.92	0.95590	.	0.051617	0.85682	D	0.000000	T	0.69913	0.3164	M	0.91663	3.23	0.58432	D	0.999999	D	0.89917	1.0	D	0.77004	0.989	T	0.75365	-0.3343	10	0.66056	D	0.02	-16.1006	19.2959	0.94122	0.0:0.0:1.0:0.0	.	250	O60513	B4GT4_HUMAN	C	250	ENSP00000420161:S250C;ENSP00000417226:S250C;ENSP00000352144:S250C;ENSP00000377360:S250C	ENSP00000352144:S250C	S	-	2	0	B4GALT4	120420235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.852000	0.99516	2.813000	0.96785	0.543000	0.68304	TCT	B4GALT4	-	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	ENSG00000121578		0.498	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT4	HGNC	protein_coding	OTTHUMT00000354925.2	30	0.00	0	G	NM_003778		118937545	118937545	-1	no_errors	ENST00000359213	ensembl	human	known	69_37n	missense	30	28.57	12	SNP	1.000	C
BAHD1	22893	genome.wustl.edu	37	15	40750963	40750963	+	Silent	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr15:40750963C>G	ENST00000416165.1	+	2	371	c.300C>G	c.(298-300)ccC>ccG	p.P100P	BAHD1_ENST00000560846.1_Silent_p.P100P|BAHD1_ENST00000561234.1_Silent_p.P100P	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	100					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCAAGCCCCCCAGCCCGGCCC	0.657																																						dbGAP											0													26.0	32.0	30.0					15																	40750963		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.300C>G	15.37:g.40750963C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDF7|Q9Y2F4	Silent	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.P100	ENST00000416165.1	37	c.300	CCDS10058.1	15																																																																																			BAHD1	-	NULL	ENSG00000140320		0.657	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAHD1	HGNC	protein_coding	OTTHUMT00000252248.1	81	0.00	0	C	NM_014952		40750963	40750963	+1	no_errors	ENST00000416165	ensembl	human	known	69_37n	silent	50	15.25	9	SNP	0.671	G
BAI1	575	genome.wustl.edu	37	8	143569763	143569763	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:143569763G>A	ENST00000517894.1	+	14	3241	c.2347G>A	c.(2347-2349)Gac>Aac	p.D783N	BAI1_ENST00000323289.5_Missense_Mutation_p.D783N			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	783					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGGAGCCACTGACATCAGCTT	0.622																																						dbGAP											0													74.0	85.0	81.0					8																	143569763		2023	4203	6226	-	-	-	SO:0001583	missense	0			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2347G>A	8.37:g.143569763G>A	ENSP00000430945:p.Asp783Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.D783N	ENST00000517894.1	37	c.2347		8	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272252	0.59649	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.09445	2.98;2.98	4.29	4.29	0.51040	.	0.065338	0.64402	U	0.000016	T	0.14227	0.0344	L	0.56769	1.78	0.53005	D	0.999961	B	0.29955	0.263	B	0.29524	0.103	T	0.04140	-1.0974	10	0.52906	T	0.07	.	15.6658	0.77227	0.0:0.0:1.0:0.0	.	783	E9PBK0	.	N	783	ENSP00000430945:D783N;ENSP00000313046:D783N	ENSP00000313046:D783N	D	+	1	0	BAI1	143566765	1.000000	0.71417	0.973000	0.42090	0.983000	0.72400	5.607000	0.67648	2.104000	0.64026	0.313000	0.20887	GAC	BAI1	-	pfam_DUF3497,prints_GPCR_2_brain-spec_angio_inhib	ENSG00000181790		0.622	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	94	0.00	0	G	NM_001702		143569763	143569763	+1	no_errors	ENST00000323289	ensembl	human	known	69_37n	missense	91	20.87	24	SNP	0.994	A
BCAT2	587	genome.wustl.edu	37	19	49309945	49309945	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:49309945C>T	ENST00000316273.6	-	3	141	c.129G>A	c.(127-129)caG>caA	p.Q43Q	BCAT2_ENST00000598162.1_Silent_p.Q43Q|BCAT2_ENST00000545387.2_Intron|BCAT2_ENST00000601496.1_5'Flank|BCAT2_ENST00000597011.1_Silent_p.Q3Q|BCAT2_ENST00000599246.1_Intron|BCAT2_ENST00000402551.1_Silent_p.Q3Q	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	43					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	TATGAGGCTTCTGTGTCATTT	0.547																																						dbGAP											0													71.0	73.0	72.0					19																	49309945		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"""branched chain aminotransferase 2, mitochondrial"""	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.129G>A	19.37:g.49309945C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Silent	SNP	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	p.Q43	ENST00000316273.6	37	c.129	CCDS12735.1	19																																																																																			BCAT2	-	superfamily_Aminotrans_IV,pirsf_B_amino_transII	ENSG00000105552		0.547	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAT2	HGNC	protein_coding	OTTHUMT00000466202.1	33	0.00	0	C			49309945	49309945	-1	no_errors	ENST00000316273	ensembl	human	known	69_37n	silent	55	11.29	7	SNP	0.002	T
BCDIN3D	144233	genome.wustl.edu	37	12	50232712	50232712	+	Silent	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:50232712G>C	ENST00000333924.4	-	2	362	c.321C>G	c.(319-321)ctC>ctG	p.L107L	BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	107	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						TGTCGCAGCAGAGGAGACGGA	0.483											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													87.0	83.0	84.0					12																	50232712		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.321C>G	12.37:g.50232712G>C		Somatic	968	WXS	Illumina GAIIx	Phase_IV	A8K829	Silent	SNP	pfam_Bin3	p.L107	ENST00000333924.4	37	c.321	CCDS8790.1	12																																																																																			BCDIN3D	-	NULL	ENSG00000186666		0.483	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCDIN3D	HGNC	protein_coding	OTTHUMT00000405982.1	46	0.00	0	G	NM_181708		50232712	50232712	-1	no_errors	ENST00000333924	ensembl	human	known	69_37n	silent	27	25.00	9	SNP	1.000	C
BEST4	266675	genome.wustl.edu	37	1	45250338	45250338	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:45250338G>A	ENST00000372207.3	-	8	1110	c.1111C>T	c.(1111-1113)Ctg>Ttg	p.L371L		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	371						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GAGGGCCGCAGAGACTCGGCC	0.662																																						dbGAP											0													36.0	41.0	39.0					1																	45250338		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17106	protein-coding gene	gene with protein product		607336	"""vitelliform macular dystrophy 2-like 2"""	VMD2L2		12032738, 16702355	Standard	NM_153274		Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.1111C>T	1.37:g.45250338G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JR93	Silent	SNP	pfam_Bestrophin/UPF0187	p.L371	ENST00000372207.3	37	c.1111	CCDS514.1	1																																																																																			BEST4	-	NULL	ENSG00000142959		0.662	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST4	HGNC	protein_coding	OTTHUMT00000023425.1	20	0.00	0	G	NM_153274		45250338	45250338	-1	no_errors	ENST00000372207	ensembl	human	known	69_37n	silent	16	20.00	4	SNP	0.304	A
BEND5	79656	genome.wustl.edu	37	1	49201913	49201913	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:49201913C>G	ENST00000371833.3	-	5	1192	c.1106G>C	c.(1105-1107)aGa>aCa	p.R369T	AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	369	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.					Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						TGACCTACCTCTGACGATGCT	0.438																																						dbGAP											0													139.0	121.0	127.0					1																	49201913		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"""BEN domain containing"""	25668	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 165"""	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.1106G>C	1.37:g.49201913C>G	ENSP00000360899:p.Arg369Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQ27|Q96A62|Q9HAI3	Missense_Mutation	SNP	pfam_BEN_domain	p.R369T	ENST00000371833.3	37	c.1106	CCDS552.2	1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551872	0.65311	.	.	ENSG00000162373	ENST00000371833;ENST00000294347	T	0.56444	0.46	5.35	5.35	0.76521	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	N	0.14661	0.345	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	T	0.56757	-0.7926	9	.	.	.	-4.6577	18.0379	0.89309	0.0:1.0:0.0:0.0	.	369	Q7L4P6	BEND5_HUMAN	T	369;81	ENSP00000360899:R369T	.	R	-	2	0	BEND5	48974500	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.440000	0.80464	2.516000	0.84829	0.555000	0.69702	AGA	BEND5	-	pfam_BEN_domain	ENSG00000162373		0.438	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND5	HGNC	protein_coding	OTTHUMT00000022323.1	85	0.00	0	C	NM_024603		49201913	49201913	-1	no_errors	ENST00000371833	ensembl	human	known	69_37n	missense	88	12.00	12	SNP	1.000	G
BFAR	51283	genome.wustl.edu	37	16	14761577	14761577	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:14761577C>T	ENST00000261658.2	+	8	1523	c.1246C>T	c.(1246-1248)Cag>Tag	p.Q416*	BFAR_ENST00000563971.1_Nonsense_Mutation_p.Q291*|BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000426842.2_Nonsense_Mutation_p.Q288*	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	416					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CCTCATCCCTCAGTTTGTTTG	0.488																																						dbGAP											0													147.0	140.0	142.0					16																	14761577		2197	4300	6497	-	-	-	SO:0001587	stop_gained	0			AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"""RING-type (C3HC4) zinc fingers"", ""Sterile alpha motif (SAM) domain containing"""	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.1246C>T	16.37:g.14761577C>T	ENSP00000261658:p.Gln416*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4Z9|B4DUT0|D3DUG8	Nonsense_Mutation	SNP	pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.Q416*	ENST00000261658.2	37	c.1246	CCDS10554.1	16	.	.	.	.	.	.	.	.	.	.	C	38	6.870755	0.97901	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.7875	0.91961	0.0:1.0:0.0:0.0	.	.	.	.	X	416;288	.	ENSP00000261658:Q416X	Q	+	1	0	BFAR	14669078	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.601000	0.82783	2.673000	0.90976	0.563000	0.77884	CAG	BFAR	-	NULL	ENSG00000103429		0.488	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BFAR	HGNC	protein_coding	OTTHUMT00000252088.1	73	0.00	0	C	NM_016561		14761577	14761577	+1	no_errors	ENST00000261658	ensembl	human	known	69_37n	nonsense	82	16.33	16	SNP	1.000	T
BHLHE40	8553	genome.wustl.edu	37	3	5021412	5021412	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:5021412G>A	ENST00000256495.3	+	1	612	c.9G>A	c.(7-9)cgG>cgA	p.R3R	BHLHE40-AS1_ENST00000434530.1_RNA|BHLHE40-AS1_ENST00000420832.1_RNA|BHLHE40-AS1_ENST00000441386.2_RNA	NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	3	Essential for its interaction with ARNTL/BMAL1, E-box binding and repressor activity against the CLOCK-ARNTL/BMAL1 heterodimer.				circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CCATGGAGCGGATCCCCAGCG	0.687											OREG0015367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													18.0	21.0	20.0					3																	5021412		2160	4216	6376	-	-	-	SO:0001819	synonymous_variant	0			AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.9G>A	3.37:g.5021412G>A		Somatic	623	WXS	Illumina GAIIx	Phase_IV	Q96TD3	Silent	SNP	pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd	p.R3	ENST00000256495.3	37	c.9	CCDS2565.1	3																																																																																			BHLHE40	-	NULL	ENSG00000134107		0.687	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE40	HGNC	protein_coding	OTTHUMT00000239244.2	41	0.00	0	G	NM_003670		5021412	5021412	+1	no_errors	ENST00000256495	ensembl	human	known	69_37n	silent	36	33.33	18	SNP	1.000	A
BMP5	653	genome.wustl.edu	37	6	55739250	55739250	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:55739250C>G	ENST00000370830.3	-	1	1112	c.414G>C	c.(412-414)caG>caC	p.Q138H	BMP5_ENST00000446683.2_Missense_Mutation_p.Q138H	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	138					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAGGAGGACTCTGGGTGGTCA	0.488																																						dbGAP											0													118.0	106.0	110.0					6																	55739250		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.414G>C	6.37:g.55739250C>G	ENSP00000359866:p.Gln138His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.Q138H	ENST00000370830.3	37	c.414	CCDS4958.1	6	.	.	.	.	.	.	.	.	.	.	C	8.025	0.760377	0.15914	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.72725	-0.68;-0.33	5.96	2.87	0.33458	Transforming growth factor-beta, N-terminal (1);	0.114202	0.64402	D	0.000009	T	0.41305	0.1153	N	0.25647	0.755	0.48288	D	0.999627	B;B	0.15719	0.014;0.006	B;B	0.23852	0.049;0.033	T	0.39563	-0.9608	10	0.45353	T	0.12	.	10.901	0.47051	0.0:0.7392:0.0:0.2608	.	138;138	B4E0Y4;P22003	.;BMP5_HUMAN	H	138	ENSP00000359866:Q138H;ENSP00000391818:Q138H	ENSP00000359866:Q138H	Q	-	3	2	BMP5	55847209	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.290000	0.33319	0.860000	0.35481	0.650000	0.86243	CAG	BMP5	-	pfam_TGF-b_N	ENSG00000112175		0.488	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP5	HGNC	protein_coding	OTTHUMT00000041000.1	66	0.00	0	C			55739250	55739250	-1	no_errors	ENST00000370830	ensembl	human	known	69_37n	missense	50	24.24	16	SNP	1.000	G
BNIP1	662	genome.wustl.edu	37	5	172581376	172581376	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:172581376C>G	ENST00000351486.5	+	3	260	c.229C>G	c.(229-231)Cta>Gta	p.L77V	BNIP1_ENST00000393770.4_Missense_Mutation_p.L77V|BNIP1_ENST00000231668.9_Missense_Mutation_p.L120V|BNIP1_ENST00000352523.6_Missense_Mutation_p.L120V	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	77					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAAACAACTTCTACTCCAGGA	0.468																																						dbGAP											0													68.0	68.0	68.0					5																	172581376		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.229C>G	5.37:g.172581376C>G	ENSP00000239215:p.Leu77Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Missense_Mutation	SNP	pfam_Sec20	p.L120V	ENST00000351486.5	37	c.358	CCDS4384.1	5	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339914	0.60963	.	.	ENSG00000113734	ENST00000231668;ENST00000351486;ENST00000352523;ENST00000393770	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.8	1.56	0.23342	.	0.241412	0.35320	N	0.003283	T	0.39963	0.1098	M	0.64997	1.995	0.53005	D	0.999967	B;B;P;B	0.52577	0.141;0.423;0.954;0.286	B;B;P;B	0.47206	0.067;0.212;0.541;0.138	T	0.15065	-1.0450	10	0.31617	T	0.26	.	6.6426	0.22917	0.0:0.3781:0.0:0.6219	.	77;120;77;120	Q12981-2;Q12981-3;Q12981;Q12981-1	.;.;SEC20_HUMAN;.	V	120;77;120;77	ENSP00000231668:L120V;ENSP00000239215:L77V;ENSP00000239214:L120V;ENSP00000377365:L77V	ENSP00000231668:L120V	L	+	1	2	BNIP1	172513982	0.299000	0.24426	0.992000	0.48379	0.956000	0.61745	0.527000	0.22987	0.392000	0.25172	0.655000	0.94253	CTA	BNIP1	-	NULL	ENSG00000113734		0.468	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNIP1	HGNC	protein_coding	OTTHUMT00000252939.1	49	0.00	0	C	NM_013979		172581376	172581376	+1	no_errors	ENST00000231668	ensembl	human	known	69_37n	missense	40	11.11	5	SNP	0.974	G
BRK1	55845	genome.wustl.edu	37	3	10168052	10168052	+	3'UTR	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:10168052C>T	ENST00000530758.1	+	0	411				BRK1_ENST00000256463.6_Silent_p.F99F	NM_018462.4	NP_060932.2	Q8WUW1	BRK1_HUMAN	BRICK1, SCAR/WAVE actin-nucleating complex subunit						actin cytoskeleton organization (GO:0030036)|cell motility (GO:0048870)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|protein homotrimerization (GO:0070207)|Rac protein signal transduction (GO:0016601)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(1)|skin(1)	2						CAGCAGCCTTCAGCTCCTTCC	0.507																																						dbGAP											0													42.0	34.0	36.0					3																	10168052		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF161418	CCDS54553.1	3p25.3	2011-06-07	2011-06-07	2011-06-07	ENSG00000254999	ENSG00000254999			23057	protein-coding gene	gene with protein product	"""haematopoietic stem/progenitor cell protein 300"", ""BRICK1, SCAR/WAVE actin-nucleating complex subunit, homolog (Arabidopsis thaliana)"""	611183	"""chromosome 3 open reading frame 10"""	C3orf10		14695531	Standard	NM_018462		Approved	MDS027, HSPC300	uc003bvb.3	Q8WUW1	OTTHUMG00000155400	ENST00000530758.1:c.*73C>T	3.37:g.10168052C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5E2|Q9P082	Silent	SNP	NULL	p.F99	ENST00000530758.1	37	c.297	CCDS54553.1	3																																																																																			BRK1	-	NULL	ENSG00000254999		0.507	BRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRK1	HGNC	protein_coding	OTTHUMT00000339900.2	19	0.00	0	C	NM_018462		10168052	10168052	+1	no_errors	ENST00000256463	ensembl	human	known	69_37n	silent	2	60.00	3	SNP	0.995	T
BRWD3	254065	genome.wustl.edu	37	X	79959038	79959038	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:79959038G>A	ENST00000373275.4	-	24	2992	c.2776C>T	c.(2776-2778)Cag>Tag	p.Q926*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	926					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AAGATCCACTGAGGGGCAAAC	0.403																																						dbGAP											0													66.0	59.0	61.0					X																	79959038		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.2776C>T	X.37:g.79959038G>A	ENSP00000362372:p.Gln926*	Somatic		WXS	Illumina GAIIx	Phase_IV	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.Q926*	ENST00000373275.4	37	c.2776	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	G	43	9.983945	0.99310	.	.	ENSG00000165288	ENST00000373275	.	.	.	5.02	5.02	0.67125	.	0.176786	0.51477	D	0.000085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.9558	17.752	0.88438	0.0:0.0:1.0:0.0	.	.	.	.	X	926	.	.	Q	-	1	0	BRWD3	79845694	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.979000	0.56888	2.467000	0.83353	0.594000	0.82650	CAG	BRWD3	-	NULL	ENSG00000165288		0.403	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	76	0.00	0	G	NM_153252		79959038	79959038	-1	no_errors	ENST00000373275	ensembl	human	known	69_37n	nonsense	55	11.29	7	SNP	1.000	A
C10orf85	404216	genome.wustl.edu	37	10	122357989	122357989	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr10:122357989C>T	ENST00000369071.2	+	1	269	c.167C>T	c.(166-168)tCa>tTa	p.S56L						chromosome 10 open reading frame 85																		CTCACCAGCTCAGGAGCAGGC	0.577																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK094721		10q26.12	2013-09-20			ENSG00000177234	ENSG00000177234			31365	protein-coding gene	gene with protein product							Standard	NR_103717		Approved	FLJ37402, Em:AC023282.2		Q8N1V8	OTTHUMG00000019167	ENST00000369071.2:c.167C>T	10.37:g.122357989C>T	ENSP00000358067:p.Ser56Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S56L	ENST00000369071.2	37	c.167		10	.	.	.	.	.	.	.	.	.	.	C	4.864	0.160674	0.09287	.	.	ENSG00000177234	ENST00000369071	T	0.07908	3.15	0.878	-1.76	0.08006	.	.	.	.	.	T	0.07098	0.0180	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34700	-0.9818	6	0.87932	D	0	.	0.2543	0.00209	0.2496:0.2825:0.2482:0.2197	.	.	.	.	L	56	ENSP00000358067:S56L	ENSP00000358067:S56L	S	+	2	0	C10orf85	122347979	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.804000	0.04535	-1.343000	0.02219	0.467000	0.42956	TCA	C10orf85	-	NULL	ENSG00000177234		0.577	C10orf85-001	KNOWN	basic|appris_principal	protein_coding	C10orf85	HGNC	protein_coding	OTTHUMT00000050700.1	23	0.00	0	C			122357989	122357989	+1	no_errors	ENST00000369071	ensembl	human	known	69_37n	missense	23	23.33	7	SNP	0.000	T
C12orf57	113246	genome.wustl.edu	37	12	7052663	7052663	+	5'Flank	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:7052663G>A	ENST00000229281.5	+	0	0				C12orf57_ENST00000540506.2_5'Flank|C12orf57_ENST00000542222.1_3'UTR|C12orf57_ENST00000537087.1_5'Flank|C12orf57_ENST00000544681.1_5'Flank|U47924.31_ENST00000607421.1_RNA|RNU7-1_ENST00000458811.1_RNA	NM_138425.2	NP_612434.1	Q99622	C10_HUMAN	chromosome 12 open reading frame 57							cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)	2						TTAGGAAACTGCGACAACGGC	0.532																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			U47924	CCDS8571.1	12p13.31	2012-05-30			ENSG00000111678	ENSG00000111678			29521	protein-coding gene	gene with protein product		615140				9445485	Standard	NM_138425		Approved	GRCC10, C10	uc009zfj.2	Q99622	OTTHUMG00000169017		12.37:g.7052663G>A	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4Q6	RNA	SNP	-	NULL	ENST00000229281.5	37	NULL	CCDS8571.1	12																																																																																			C12orf57	-	-	ENSG00000111678		0.532	C12orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf57	HGNC	protein_coding	OTTHUMT00000401959.1	25	0.00	0	G	NM_138425		7052663	7052663	+1	no_errors	ENST00000542222	ensembl	human	putative	69_37n	rna	26	16.13	5	SNP	0.000	A
C14orf183	196913	genome.wustl.edu	37	14	50550436	50550436	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:50550436G>A	ENST00000305273.1	-	5	907	c.908C>T	c.(907-909)cCt>cTt	p.P303L	RP11-58E21.7_ENST00000556019.2_lincRNA|RP11-58E21.5_ENST00000603228.1_lincRNA	NM_001014830.1	NP_001014830.1	Q8WXQ3	CN183_HUMAN	chromosome 14 open reading frame 183	303										endometrium(2)|large_intestine(2)|lung(3)	7						CGTTCCTGGAGGGGTGTGGGA	0.532																																						dbGAP											0													73.0	81.0	79.0					14																	50550436		2053	4210	6263	-	-	-	SO:0001583	missense	0			AF390030	CCDS45101.1	14q21.3	2012-09-26			ENSG00000168260	ENSG00000168260			27285	protein-coding gene	gene with protein product							Standard	NM_001014830		Approved		uc010tqk.2	Q8WXQ3	OTTHUMG00000170858	ENST00000305273.1:c.908C>T	14.37:g.50550436G>A	ENSP00000303234:p.Pro303Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.P303L	ENST00000305273.1	37	c.908	CCDS45101.1	14	.	.	.	.	.	.	.	.	.	.	G	9.901	1.206990	0.22205	.	.	ENSG00000168260	ENST00000305273	.	.	.	3.7	1.86	0.25419	.	.	.	.	.	T	0.17066	0.0410	N	0.08118	0	0.09310	N	1	P	0.46142	0.873	B	0.44044	0.439	T	0.08391	-1.0724	8	0.87932	D	0	.	5.5492	0.17081	0.2509:0.0:0.7491:0.0	.	303	Q8WXQ3	CN183_HUMAN	L	303	.	ENSP00000303234:P303L	P	-	2	0	C14orf183	49620186	0.843000	0.29541	0.015000	0.15790	0.017000	0.09413	1.675000	0.37555	0.550000	0.28991	0.460000	0.39030	CCT	C14orf183	-	NULL	ENSG00000168260		0.532	C14orf183-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C14orf183	HGNC	protein_coding	OTTHUMT00000410705.1	40	0.00	0	G	NM_001014830		50550436	50550436	-1	no_errors	ENST00000305273	ensembl	human	novel	69_37n	missense	45	31.82	21	SNP	0.015	A
HID1	283987	genome.wustl.edu	37	17	72960609	72960609	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:72960609G>A	ENST00000425042.2	-	2	262	c.185C>T	c.(184-186)tCa>tTa	p.S62L	HID1_ENST00000532900.1_5'UTR	NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	62					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											GTTGGAGGGTGACTCTTCCCG	0.632																																						dbGAP											0													92.0	78.0	83.0					17																	72960609		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.185C>T	17.37:g.72960609G>A	ENSP00000413520:p.Ser62Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	pfam_Dymeclin	p.S62L	ENST00000425042.2	37	c.185	CCDS32726.1	17	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731246	0.89390	.	.	ENSG00000167861	ENST00000425042;ENST00000534480	.	.	.	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000001	T	0.64886	0.2639	M	0.72894	2.215	0.80722	D	1	B;B	0.32302	0.363;0.24	B;B	0.35727	0.149;0.209	T	0.64918	-0.6294	9	0.31617	T	0.26	-8.1653	17.724	0.88360	0.0:0.0:1.0:0.0	.	62;62	Q8IV36-2;Q8IV36	.;CQ028_HUMAN	L	62	.	ENSP00000413520:S62L	S	-	2	0	C17orf28	70472204	1.000000	0.71417	0.939000	0.37840	0.844000	0.47949	9.476000	0.97823	2.182000	0.69389	0.650000	0.86243	TCA	C17orf28	-	NULL	ENSG00000167861		0.632	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf28	HGNC	protein_coding	OTTHUMT00000390011.2	38	0.00	0	G	NM_030630		72960609	72960609	-1	no_errors	ENST00000425042	ensembl	human	known	69_37n	missense	37	31.48	17	SNP	1.000	A
C18orf25	147339	genome.wustl.edu	37	18	43820137	43820137	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr18:43820137G>A	ENST00000282059.6	+	3	1256	c.882G>A	c.(880-882)gaG>gaA	p.E294E	C18orf25_ENST00000321319.6_Intron	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	294										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TTCTAGAGGAGCTGAATGCAG	0.532																																						dbGAP											0													38.0	40.0	39.0					18																	43820137		1964	4161	6125	-	-	-	SO:0001819	synonymous_variant	0			AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"""ARKadia-like 1"""					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.882G>A	18.37:g.43820137G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Silent	SNP	NULL	p.E294	ENST00000282059.6	37	c.882	CCDS42430.1	18																																																																																			C18orf25	-	NULL	ENSG00000152242		0.532	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C18orf25	HGNC	protein_coding	OTTHUMT00000445242.1	78	0.00	0	G	NM_145055		43820137	43820137	+1	no_errors	ENST00000282059	ensembl	human	putative	69_37n	silent	85	12.37	12	SNP	1.000	A
C1orf123	54987	genome.wustl.edu	37	1	53686159	53686159	+	Intron	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:53686159C>T	ENST00000294360.4	-	1	48				C1orf123_ENST00000470385.1_5'UTR|RP5-1024G6.7_ENST00000569869.1_RNA	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN	chromosome 1 open reading frame 123							extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						CCACTCGCTTCATCTCCTCCT	0.711																																						dbGAP											0													18.0	24.0	22.0					1																	53686159		692	1590	2282	-	-	-	SO:0001627	intron_variant	0			BC010908	CCDS576.1	1p32.3	2011-02-18			ENSG00000162384	ENSG00000162384			26059	protein-coding gene	gene with protein product						12477932	Standard	NM_017887		Approved	FLJ20580	uc001cvd.3	Q9NWV4	OTTHUMG00000008940	ENST00000294360.4:c.6+82G>A	1.37:g.53686159C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000294360.4	37	NULL	CCDS576.1	1																																																																																			C1orf123	-	-	ENSG00000162384		0.711	C1orf123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf123	HGNC	protein_coding	OTTHUMT00000024751.1	49	0.00	0	C	NM_017887		53686159	53686159	-1	no_errors	ENST00000470385	ensembl	human	known	69_37n	rna	57	25.00	19	SNP	0.000	T
C1orf226	400793	genome.wustl.edu	37	1	162351998	162351998	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:162351998G>C	ENST00000458626.2	+	1	479	c.307G>C	c.(307-309)Gag>Cag	p.E103Q	C1orf226_ENST00000426197.2_Missense_Mutation_p.E146Q	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	103										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						GGCTTGGCTAGAGGATGAAAG	0.597																																						dbGAP											0													10.0	13.0	12.0					1																	162351998		2033	4164	6197	-	-	-	SO:0001583	missense	0			AI480219, AK023199, AK125122, AL512785, BC127743	CCDS44268.1, CCDS53422.1	1q23.3	2013-10-11			ENSG00000239887	ENSG00000239887			34351	protein-coding gene	gene with protein product						14702039	Standard	NM_001085375		Approved	FLJ13137	uc010pkt.1	A1L170	OTTHUMG00000031376	ENST00000458626.2:c.307G>C	1.37:g.162351998G>C	ENSP00000437071:p.Glu103Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF31	Missense_Mutation	SNP	NULL	p.E146Q	ENST00000458626.2	37	c.436	CCDS53422.1	1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709072	0.68615	.	.	ENSG00000239887	ENST00000420220;ENST00000426197;ENST00000458626	.	.	.	5.26	5.26	0.73747	.	1.299420	0.05437	N	0.546957	T	0.35393	0.0930	N	0.19112	0.55	.	.	.	P;P	0.51791	0.948;0.911	P;P	0.49999	0.628;0.474	T	0.23013	-1.0200	8	0.56958	D	0.05	0.2401	15.5916	0.76534	0.0:0.0:1.0:0.0	.	146;103	A1L170-2;A1L170	.;CA226_HUMAN	Q	103;146;103	.	ENSP00000398035:E103Q	E	+	1	0	C1orf226	160618622	0.403000	0.25319	0.377000	0.26055	0.010000	0.07245	1.836000	0.39191	2.427000	0.82271	0.561000	0.74099	GAG	C1orf226	-	NULL	ENSG00000239887		0.597	C1orf226-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C1orf226	HGNC	protein_coding	OTTHUMT00000076793.2	30	0.00	0	G	NM_001085375		162351998	162351998	+1	no_errors	ENST00000426197	ensembl	human	known	69_37n	missense	23	34.29	12	SNP	0.957	C
CATIP	375307	genome.wustl.edu	37	2	219227619	219227619	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:219227619G>A	ENST00000289388.3	+	6	653	c.624G>A	c.(622-624)ttG>ttA	p.L208L	C2orf62_ENST00000481940.1_Intron	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		208					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTGCTATTTGACCTATGTAA	0.577																																						dbGAP											0													41.0	39.0	39.0					2																	219227619		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000289388.3:c.624G>A	2.37:g.219227619G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.L208	ENST00000289388.3	37	c.624	CCDS2414.1	2																																																																																			C2orf62	-	NULL	ENSG00000158428		0.577	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf62	HGNC	protein_coding	OTTHUMT00000256771.1	39	0.00	0	G			219227619	219227619	+1	no_errors	ENST00000289388	ensembl	human	known	69_37n	silent	65	13.33	10	SNP	0.876	A
C3orf70	285382	genome.wustl.edu	37	3	184870595	184870595	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:184870595G>A	ENST00000335012.2	-	1	207	c.17C>T	c.(16-18)tCg>tTg	p.S6L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716																																						dbGAP											2	Substitution - Missense(2)	urinary_tract(1)|lung(1)											16.0	17.0	17.0					3																	184870595		2196	4292	6488	-	-	-	SO:0001583	missense	0				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.17C>T	3.37:g.184870595G>A	ENSP00000334974:p.Ser6Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNY2|B9EH83	Missense_Mutation	SNP	NULL	p.S6L	ENST00000335012.2	37	c.17	CCDS33900.1	3	.	.	.	.	.	.	.	.	.	.	G	7.421	0.636714	0.14386	.	.	ENSG00000187068	ENST00000335012	.	.	.	2.01	2.01	0.26516	.	0.281820	0.29692	N	0.011445	T	0.20577	0.0495	N	0.08118	0	0.24817	N	0.992606	B	0.18013	0.025	B	0.08055	0.003	T	0.16364	-1.0405	9	0.22109	T	0.4	.	11.538	0.50651	0.0:0.0:1.0:0.0	.	6	A6NLC5	CC070_HUMAN	L	6	.	ENSP00000334974:S6L	S	-	2	0	C3orf70	186353289	0.741000	0.28217	0.135000	0.22099	0.031000	0.12232	2.664000	0.46783	0.951000	0.37770	0.195000	0.17529	TCG	C3orf70	-	NULL	ENSG00000187068		0.716	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf70	HGNC	protein_coding	OTTHUMT00000345323.1	25	0.00	0	G	NM_001025266		184870595	184870595	-1	no_errors	ENST00000335012	ensembl	human	known	69_37n	missense	27	25.00	9	SNP	0.804	A
C4BPA	722	genome.wustl.edu	37	1	207286436	207286436	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:207286436C>T	ENST00000367070.3	+	2	260	c.66C>T	c.(64-66)ttC>ttT	p.F22F		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	22					complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CCTGGCCCTTCTCCAGGCTGT	0.498																																						dbGAP											0													99.0	95.0	96.0					1																	207286436		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.66C>T	1.37:g.207286436C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVQ8	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.F22	ENST00000367070.3	37	c.66	CCDS1477.1	1																																																																																			C4BPA	-	NULL	ENSG00000123838		0.498	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4BPA	HGNC	protein_coding	OTTHUMT00000088089.3	21	0.00	0	C			207286436	207286436	+1	no_errors	ENST00000367070	ensembl	human	known	69_37n	silent	10	52.38	11	SNP	0.002	T
PRR27	401137	genome.wustl.edu	37	4	71024528	71024528	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:71024528G>C	ENST00000344526.5	+	3	748	c.559G>C	c.(559-561)Gag>Cag	p.E187Q	C4orf40_ENST00000502294.1_Missense_Mutation_p.E187Q	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		187	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGTTGGAGTGGAGCCAGCTGC	0.597																																						dbGAP											0													53.0	48.0	50.0					4																	71024528		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000344526.5:c.559G>C	4.37:g.71024528G>C	ENSP00000343172:p.Glu187Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXP0|Q6MZR6	Missense_Mutation	SNP	NULL	p.E187Q	ENST00000344526.5	37	c.559	CCDS3535.1	4	.	.	.	.	.	.	.	.	.	.	G	5.321	0.244608	0.10077	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.31769	1.48;1.48	4.14	-8.27	0.01017	.	.	.	.	.	T	0.12220	0.0297	N	0.14661	0.345	0.09310	N	1	B	0.24823	0.112	B	0.22880	0.042	T	0.23119	-1.0197	9	0.52906	T	0.07	-0.0075	1.7672	0.03004	0.2642:0.3441:0.232:0.1597	.	187	Q6MZM9	CD040_HUMAN	Q	187	ENSP00000426249:E187Q;ENSP00000343172:E187Q	ENSP00000343172:E187Q	E	+	1	0	C4orf40	71059117	0.055000	0.20627	0.000000	0.03702	0.001000	0.01503	0.615000	0.24329	-2.632000	0.00434	-0.414000	0.06135	GAG	C4orf40	-	NULL	ENSG00000187533		0.597	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf40	HGNC	protein_coding	OTTHUMT00000251558.1	51	0.00	0	G			71024528	71024528	+1	no_errors	ENST00000344526	ensembl	human	known	69_37n	missense	78	12.36	11	SNP	0.000	C
C5orf42	65250	genome.wustl.edu	37	5	37180995	37180995	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:37180995C>T	ENST00000508244.1	-	26	5627	c.5534G>A	c.(5533-5535)aGa>aAa	p.R1845K	C5orf42_ENST00000425232.2_Missense_Mutation_p.R1845K|C5orf42_ENST00000274258.7_Missense_Mutation_p.R726K			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1845						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTGACCATTTCTTTCCTCAGT	0.413																																						dbGAP											0													82.0	74.0	77.0					5																	37180995		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5534G>A	5.37:g.37180995C>T	ENSP00000421690:p.Arg1845Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.R1845K	ENST00000508244.1	37	c.5534	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	C	16.38	3.108033	0.56291	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.69	1.61	0.23674	.	0.861071	0.09888	N	0.742801	T	0.10981	0.0268	L	0.36672	1.1	0.09310	N	1	B;B	0.32467	0.372;0.187	B;B	0.27796	0.083;0.058	T	0.29610	-1.0006	10	0.29301	T	0.29	.	4.2614	0.10742	0.2853:0.4991:0.1383:0.0773	.	1845;726	E9PH94;Q9H799	.;CE042_HUMAN	K	1845;1845;726;893;726	ENSP00000421690:R1845K;ENSP00000389014:R1845K;ENSP00000274258:R726K;ENSP00000424223:R893K	ENSP00000274258:R726K	R	-	2	0	C5orf42	37216752	0.000000	0.05858	0.001000	0.08648	0.702000	0.40608	-0.159000	0.10056	0.720000	0.32209	0.561000	0.74099	AGA	C5orf42	-	NULL	ENSG00000197603		0.413	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	34	0.00	0	C	NM_023073		37180995	37180995	-1	no_errors	ENST00000425232	ensembl	human	known	69_37n	missense	41	24.07	13	SNP	0.000	T
C5orf42	65250	genome.wustl.edu	37	5	37187656	37187656	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:37187656C>G	ENST00000508244.1	-	22	4033	c.3940G>C	c.(3940-3942)Gat>Cat	p.D1314H	C5orf42_ENST00000425232.2_Missense_Mutation_p.D1314H|C5orf42_ENST00000274258.7_Missense_Mutation_p.D195H			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1314						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATACAAGAATCAAACTCCACT	0.348																																						dbGAP											0													81.0	76.0	78.0					5																	37187656		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3940G>C	5.37:g.37187656C>G	ENSP00000421690:p.Asp1314His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.D1314H	ENST00000508244.1	37	c.3940	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905782	0.92107	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	5.65	5.65	0.86999	.	0.266038	0.31123	N	0.008203	T	0.78123	0.4234	L	0.27053	0.805	0.49687	D	0.999813	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79995	-0.1568	10	0.87932	D	0	.	20.0752	0.97739	0.0:1.0:0.0:0.0	.	1314;195	E9PH94;Q9H799	.;CE042_HUMAN	H	1314;1314;195;362;195	ENSP00000421690:D1314H;ENSP00000389014:D1314H;ENSP00000274258:D195H;ENSP00000424223:D362H	ENSP00000274258:D195H	D	-	1	0	C5orf42	37223413	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.038000	0.57318	2.826000	0.97356	0.491000	0.48974	GAT	C5orf42	-	NULL	ENSG00000197603		0.348	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	38	0.00	0	C	NM_023073		37187656	37187656	-1	no_errors	ENST00000425232	ensembl	human	known	69_37n	missense	39	25.00	13	SNP	1.000	G
ZBED8	63920	genome.wustl.edu	37	5	159821587	159821587	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:159821587C>T	ENST00000408953.3	-	2	1418	c.911G>A	c.(910-912)aGa>aAa	p.R304K	C5orf54_ENST00000523213.1_Missense_Mutation_p.R304K	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						atttggagctctccctttgat	0.408																																						dbGAP											0													100.0	101.0	101.0					5																	159821587		2203	4299	6502	-	-	-	SO:0001583	missense	0																														ENST00000408953.3:c.911G>A	5.37:g.159821587C>T	ENSP00000386184:p.Arg304Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_RNaseH-like_dom	p.R304K	ENST00000408953.3	37	c.911	CCDS34283.1	5	.	.	.	.	.	.	.	.	.	.	C	4.192	0.034219	0.08101	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.21734	1.99;1.99	2.84	1.03	0.20045	.	.	.	.	.	T	0.20414	0.0491	N	0.11154	0.105	0.21740	N	0.999566	D	0.76494	0.999	D	0.79108	0.992	T	0.16512	-1.0400	9	0.28530	T	0.3	.	5.0248	0.14379	0.0:0.7105:0.0:0.2895	.	304	Q8IZ13	CE054_HUMAN	K	304	ENSP00000386184:R304K;ENSP00000428831:R304K	ENSP00000386184:R304K	R	-	2	0	C5orf54	159754165	0.860000	0.29831	0.961000	0.40146	0.987000	0.75469	0.169000	0.16641	0.271000	0.22005	-0.140000	0.14226	AGA	C5orf54	-	superfamily_RNaseH-like_dom	ENSG00000221886		0.408	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf54	HGNC	protein_coding	OTTHUMT00000374143.1	25	0.00	0	C			159821587	159821587	-1	no_errors	ENST00000408953	ensembl	human	known	69_37n	missense	23	28.12	9	SNP	0.960	T
C6	729	genome.wustl.edu	37	5	41153970	41153970	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:41153970G>A	ENST00000263413.3	-	15	2496	c.2232C>T	c.(2230-2232)taC>taT	p.Y744Y	C6_ENST00000337836.5_Silent_p.Y744Y	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	744	C5b-binding domain.|CCP 2.|Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCTGGCATGTGTACCTTGATG	0.468																																						dbGAP											0													120.0	103.0	109.0					5																	41153970		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2232C>T	5.37:g.41153970G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.Y744	ENST00000263413.3	37	c.2232	CCDS3936.1	5																																																																																			C6	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000039537		0.468	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	54	0.00	0	G			41153970	41153970	-1	no_errors	ENST00000263413	ensembl	human	known	69_37n	silent	53	10.17	6	SNP	0.991	A
C5orf60	285679	genome.wustl.edu	37	5	179069346	179069346	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:179069346G>C	ENST00000448248.2	-	5	853	c.828C>G	c.(826-828)atC>atG	p.I276M	C5orf60_ENST00000506142.1_5'Flank	NM_001142306.1	NP_001135778.1	A6NFR6	CE060_HUMAN	chromosome 5 open reading frame 60	0						integral component of membrane (GO:0016021)				NS(1)|breast(1)|kidney(5)	7						GTCCTCAGGAGATTCCCAATT	0.537																																						dbGAP											0													132.0	118.0	123.0					5																	179069346		692	1591	2283	-	-	-	SO:0001583	missense	0			BC043435	CCDS47353.1	5q35.3	2010-08-19			ENSG00000204661	ENSG00000204661			27753	protein-coding gene	gene with protein product						12477932	Standard	NM_001142306		Approved		uc003mki.3	A6NFR6	OTTHUMG00000163221	ENST00000448248.2:c.828C>G	5.37:g.179069346G>C	ENSP00000404583:p.Ile276Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L488|B7ZM52|B7ZM53	Missense_Mutation	SNP	NULL	p.I276M	ENST00000448248.2	37	c.828	CCDS47353.1	5	.	.	.	.	.	.	.	.	.	.	g	1.857	-0.463667	0.04476	.	.	ENSG00000204661	ENST00000448248	T	0.29142	1.58	0.517	0.517	0.17025	.	.	.	.	.	T	0.43055	0.1230	.	.	.	0.09310	N	1	D;D	0.62365	0.991;0.991	P;P	0.58331	0.837;0.837	T	0.23013	-1.0200	7	0.87932	D	0	.	.	.	.	.	280;276	A6NFR6-2;A6NFR6-4	.;.	M	276	ENSP00000404583:I276M	ENSP00000404583:I276M	I	-	3	3	C5orf60	179001952	0.009000	0.17119	0.003000	0.11579	0.027000	0.11550	0.490000	0.22403	0.539000	0.28788	0.306000	0.20318	ATC	C5orf60	-	NULL	ENSG00000204661		0.537	C5orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf60	HGNC	protein_coding	OTTHUMT00000372148.2	74	0.00	0	G	NM_001142306		179069346	179069346	-1	no_errors	ENST00000448248	ensembl	human	known	69_37n	missense	69	14.81	12	SNP	0.003	C
C6orf58	352999	genome.wustl.edu	37	6	127901510	127901510	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:127901510G>A	ENST00000329722.7	+	3	501	c.489G>A	c.(487-489)aaG>aaA	p.K163K		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	163						extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CCCCACCCAAGAATGAGAGGA	0.413																																						dbGAP											0													181.0	171.0	174.0					6																	127901510		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.489G>A	6.37:g.127901510G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1I0|Q5VUP2	Silent	SNP	pfam_DUF781	p.K163	ENST00000329722.7	37	c.489	CCDS34533.1	6																																																																																			C6orf58	-	pfam_DUF781	ENSG00000184530		0.413	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf58	HGNC	protein_coding	OTTHUMT00000042152.1	48	0.00	0	G	NM_001010905		127901510	127901510	+1	no_errors	ENST00000329722	ensembl	human	known	69_37n	silent	46	31.34	21	SNP	0.002	A
C9orf171	389799	genome.wustl.edu	37	9	135285786	135285786	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:135285786C>G	ENST00000343036.2	+	1	176	c.128C>G	c.(127-129)tCc>tGc	p.S43C	C9orf171_ENST00000393215.3_Missense_Mutation_p.S43C|C9orf171_ENST00000393216.2_Missense_Mutation_p.S43C	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	43										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GACATCCGTTCCGGCATGGAG	0.687																																						dbGAP											0													17.0	15.0	16.0					9																	135285786		2117	4193	6310	-	-	-	SO:0001583	missense	0			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.128C>G	9.37:g.135285786C>G	ENSP00000343290:p.Ser43Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q147X1	Missense_Mutation	SNP	NULL	p.S43C	ENST00000343036.2	37	c.128	CCDS6949.1	9	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748082	0.49257	.	.	ENSG00000188523	ENST00000393215;ENST00000343036;ENST00000393216	T;T;T	0.35236	1.32;1.86;1.74	4.91	4.91	0.64330	.	0.423390	0.22027	N	0.065656	T	0.23370	0.0565	N	0.08118	0	0.09310	N	1	B;B	0.31351	0.32;0.188	B;B	0.33392	0.117;0.163	T	0.30179	-0.9987	10	0.66056	D	0.02	.	14.8661	0.70416	0.0:1.0:0.0:0.0	.	43;43	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	C	43	ENSP00000376908:S43C;ENSP00000343290:S43C;ENSP00000376909:S43C	ENSP00000343290:S43C	S	+	2	0	C9orf171	134275607	0.011000	0.17503	0.881000	0.34555	0.885000	0.51271	1.865000	0.39479	2.272000	0.75746	0.306000	0.20318	TCC	C9orf171	-	NULL	ENSG00000188523		0.687	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf171	HGNC	protein_coding	OTTHUMT00000254589.1	14	0.00	0	C	NM_207417		135285786	135285786	+1	no_errors	ENST00000343036	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	0.216	G
CACNA2D3	55799	genome.wustl.edu	37	3	55002509	55002509	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:55002509C>A	ENST00000474759.1	+	28	2530	c.2482C>A	c.(2482-2484)Caa>Aaa	p.Q828K	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.Q828K|LRTM1_ENST00000493075.1_5'Flank|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.Q734K|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.Q828K	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	828						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TGAATTTTTCCAAAGGAAGTT	0.373																																						dbGAP											0													70.0	67.0	68.0					3																	55002509		1829	4080	5909	-	-	-	SO:0001583	missense	0			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2482C>A	3.37:g.55002509C>A	ENSP00000419101:p.Gln828Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.Q828K	ENST00000474759.1	37	c.2482	CCDS54598.1	3	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866491	0.51588	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.68274	0.2983	M	0.72353	2.195	0.43803	D	0.996355	B	0.34161	0.439	B	0.36666	0.23	T	0.66217	-0.5979	10	0.28530	T	0.3	.	17.2241	0.86964	0.0:1.0:0.0:0.0	.	828	Q8IZS8	CA2D3_HUMAN	K	828;828;828;734;734	ENSP00000389506:Q828K;ENSP00000419101:Q828K;ENSP00000288197:Q828K;ENSP00000417279:Q734K	ENSP00000288197:Q828K	Q	+	1	0	CACNA2D3	54977549	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.384000	0.73177	2.593000	0.87608	0.655000	0.94253	CAA	CACNA2D3	-	NULL	ENSG00000157445		0.373	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	49	0.00	0	C			55002509	55002509	+1	no_errors	ENST00000288197	ensembl	human	known	69_37n	missense	35	12.50	5	SNP	1.000	A
CADPS	8618	genome.wustl.edu	37	3	62452976	62452976	+	Intron	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:62452976C>T	ENST00000383710.4	-	25	3827				CADPS_ENST00000462768.1_Intron|CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator						catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CACTTACCCACATTTTAGCAA	0.284																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3478-888G>A	3.37:g.62452976C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	NULL	p.C150Y	ENST00000383710.4	37	c.449	CCDS46858.1	3	.	.	.	.	.	.	.	.	.	.	C	8.718	0.913630	0.17907	.	.	ENSG00000163618	ENST00000473635	.	.	.	5.55	3.72	0.42706	.	.	.	.	.	T	0.63710	0.2534	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62914	-0.6753	4	.	.	.	.	12.8504	0.57855	0.0:0.86:0.0:0.14	.	.	.	.	Y	150	.	.	C	-	2	0	CADPS	62428016	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	1.458000	0.35223	1.468000	0.48064	0.650000	0.86243	TGT	CADPS	-	NULL	ENSG00000163618		0.284	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	36	0.00	0	C	NM_003716, NM_183393, NM_183394		62452976	62452976	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000473635	ensembl	human	known	69_37n	missense	26	16.13	5	SNP	1.000	T
CAND1	55832	genome.wustl.edu	37	12	67691215	67691215	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:67691215C>T	ENST00000545606.1	+	5	957	c.520C>T	c.(520-522)Cct>Tct	p.P174S		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	174					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TAATTTCCATCCTTCAATTCT	0.408																																						dbGAP											0													119.0	122.0	121.0					12																	67691215		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.520C>T	12.37:g.67691215C>T	ENSP00000442318:p.Pro174Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.P174S	ENST00000545606.1	37	c.520	CCDS8977.1	12	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771240	0.31320	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047	T	0.64085	-0.08	5.34	5.34	0.76211	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	N	0.11131	0.1	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.34054	-0.9844	9	.	.	.	-15.7741	19.057	0.93069	0.0:1.0:0.0:0.0	.	174	Q86VP6	CAND1_HUMAN	S	174;174;16	ENSP00000442318:P174S	.	P	+	1	0	CAND1	65977482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.879000	0.69690	2.508000	0.84585	0.655000	0.94253	CCT	CAND1	-	superfamily_ARM-type_fold	ENSG00000111530		0.408	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	HGNC	protein_coding	OTTHUMT00000402105.1	46	0.00	0	C	NM_018448		67691215	67691215	+1	no_errors	ENST00000299218	ensembl	human	known	69_37n	missense	45	19.64	11	SNP	1.000	T
CAPN2	824	genome.wustl.edu	37	1	223949411	223949411	+	Intron	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:223949411G>A	ENST00000295006.5	+	13	1875				CAPN2_ENST00000474026.1_Intron|CAPN2_ENST00000433674.2_Intron	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit						blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TGGACTTCACGAACAAAGCCT	0.493																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1566+92G>A	1.37:g.223949411G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	RNA	SNP	-	NULL	ENST00000295006.5	37	NULL	CCDS31035.1	1																																																																																			CAPN2	-	-	ENSG00000162909		0.493	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN2	HGNC	protein_coding	OTTHUMT00000090973.1	22	0.00	0	G	NM_001748		223949411	223949411	+1	no_errors	ENST00000492565	ensembl	human	known	69_37n	rna	26	13.33	4	SNP	0.000	A
CC2D2A	57545	genome.wustl.edu	37	4	15516354	15516354	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:15516354G>A	ENST00000503292.1	+	10	922	c.742G>A	c.(742-744)Gat>Aat	p.D248N	CC2D2A_ENST00000413206.1_Missense_Mutation_p.D248N|CC2D2A_ENST00000389652.5_Missense_Mutation_p.D199N|CC2D2A_ENST00000424120.1_Missense_Mutation_p.D248N|CC2D2A_ENST00000513811.1_3'UTR	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	248					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GCTTAATGGTGATGATGCCGA	0.388																																						dbGAP											0													117.0	114.0	115.0					4																	15516354		1954	4156	6110	-	-	-	SO:0001583	missense	0			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.742G>A	4.37:g.15516354G>A	ENSP00000421809:p.Asp248Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.D248N	ENST00000503292.1	37	c.742	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	G	12.49	1.952765	0.34471	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000512702;ENST00000503292;ENST00000389652	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	5.61	-3.39	0.04868	.	1.171340	0.06067	N	0.659427	T	0.12475	0.0303	N	0.19112	0.55	0.09310	N	1	B;B	0.21071	0.051;0.004	B;B	0.26094	0.066;0.001	T	0.37033	-0.9723	10	0.30854	T	0.27	.	5.8342	0.18597	0.3957:0.3865:0.2178:0.0	.	248;199	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	N	248;248;199;199;248;248;199	ENSP00000403465:D248N;ENSP00000398391:D248N;ENSP00000422875:D248N;ENSP00000421809:D248N;ENSP00000374303:D199N	ENSP00000374303:D199N	D	+	1	0	CC2D2A	15125452	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.068000	0.14531	-0.831000	0.04256	-1.224000	0.01588	GAT	CC2D2A	-	NULL	ENSG00000048342		0.388	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2	77	0.00	0	G	NM_001080522		15516354	15516354	+1	no_errors	ENST00000413206	ensembl	human	known	69_37n	missense	62	24.39	20	SNP	0.000	A
CCDC88C	440193	genome.wustl.edu	37	14	91770047	91770047	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:91770047C>T	ENST00000389857.6	-	20	3719	c.3633G>A	c.(3631-3633)gaG>gaA	p.E1211E		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1211					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GGCCCTACCTCTCCCCGAGCT	0.647																																						dbGAP											0													37.0	35.0	36.0					14																	91770047		1954	4152	6106	-	-	-	SO:0001819	synonymous_variant	0				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3633G>A	14.37:g.91770047C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C	p.E1211	ENST00000389857.6	37	c.3633	CCDS45151.1	14																																																																																			CCDC88C	-	NULL	ENSG00000015133		0.647	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88C	HGNC	protein_coding	OTTHUMT00000411650.1	50	0.00	0	C	XM_029353		91770047	91770047	-1	no_errors	ENST00000389857	ensembl	human	known	69_37n	silent	36	14.29	6	SNP	0.993	T
CCL15	6359	genome.wustl.edu	37	17	34324830	34324830	+	Missense_Mutation	SNP	C	C	T	rs551984257	byFrequency	TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:34324830C>T	ENST00000354059.4	-	4	867	c.315G>A	c.(313-315)atG>atA	p.M105I	CCL14_ENST00000536149.1_5'UTR|CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.M105I	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	105					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive chemotaxis (GO:0050918)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCAGCTTTTTCATGCAATCCT	0.468													C|||	2	0.000399361	0.0	0.0	5008	,	,		16643	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													78.0	74.0	76.0					17																	34324830		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF031587	CCDS11304.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000267596	ENSG00000275718		"""Chemokine ligands"", ""Endogenous ligands"""	10613	protein-coding gene	gene with protein product	"""leukotactin 1"", ""CC chemokine 3"", ""macrophage inflammatory protein 5"", ""chemokine CC-2"", ""MIP-1 delta"""	601393	"""small inducible cytokine subfamily A (Cys-Cys), member 15"""	SCYA15		8661057	Standard	NM_032965		Approved	HCC-2, NCC-3, SCYL3, MIP-5, Lkn-1, MIP-1d, HMRP-2B	uc010wcu.2	Q16663	OTTHUMG00000188406	ENST00000354059.4:c.315G>A	17.37:g.34324830C>T	ENSP00000293276:p.Met105Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU34|E1P651|Q9UM74	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.M105I	ENST00000354059.4	37	c.315	CCDS11304.1	17	.	.	.	.	.	.	.	.	.	.	C	0.230	-1.022123	0.02061	.	.	ENSG00000161574	ENST00000354059	T	0.04194	3.68	4.72	-3.32	0.04973	Chemokine interleukin-8-like domain (3);	1.213440	0.06406	N	0.719711	T	0.01800	0.0057	N	0.05534	-0.03	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.43925	-0.9361	10	0.06099	T	0.92	.	0.8665	0.01205	0.1487:0.2889:0.2735:0.289	.	105	Q16663	CCL15_HUMAN	I	105	ENSP00000293276:M105I	ENSP00000293276:M105I	M	-	3	0	CCL15	31348943	0.033000	0.19621	0.050000	0.19076	0.009000	0.06853	-0.032000	0.12266	-0.640000	0.05495	-0.469000	0.05056	ATG	CCL15	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000267596		0.468	CCL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL15	Clone_based_vega_gene	protein_coding	OTTHUMT00000256584.2	46	0.00	0	C	NM_004167		34324830	34324830	-1	no_errors	ENST00000354059	ensembl	human	known	69_37n	missense	36	23.40	11	SNP	0.035	T
CCNL2	81669	genome.wustl.edu	37	1	1322688	1322688	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:1322688C>T	ENST00000400809.3	-	11	1491	c.1486G>A	c.(1486-1488)Gag>Aag	p.E496K	CCNL2_ENST00000408952.5_Missense_Mutation_p.E274K|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	496					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CTCGAGCGCTCTCGTCGCTGA	0.592																																						dbGAP											0													150.0	158.0	155.0					1																	1322688		2203	4296	6499	-	-	-	SO:0001583	missense	0			AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.1486G>A	1.37:g.1322688C>T	ENSP00000383611:p.Glu496Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.E496K	ENST00000400809.3	37	c.1486	CCDS30557.1	1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511231	0.44660	.	.	ENSG00000221978	ENST00000400809;ENST00000408952	T	0.40476	1.03	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000002	T	0.62600	0.2441	M	0.78637	2.42	0.51233	D	0.999919	D	0.58268	0.982	D	0.67548	0.952	T	0.57613	-0.7781	10	0.12430	T	0.62	.	17.8728	0.88816	0.0:1.0:0.0:0.0	.	496	Q96S94	CCNL2_HUMAN	K	496;323	ENSP00000383611:E496K	ENSP00000383611:E496K	E	-	1	0	CCNL2	1312551	0.998000	0.40836	0.998000	0.56505	0.359000	0.29487	4.022000	0.57203	2.694000	0.91930	0.650000	0.86243	GAG	CCNL2	-	pirsf_Cyclin_L	ENSG00000221978		0.592	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL2	HGNC	protein_coding	OTTHUMT00000008146.2	39	0.00	0	C	NM_030937		1322688	1322688	-1	no_errors	ENST00000400809	ensembl	human	known	69_37n	missense	38	25.49	13	SNP	1.000	T
CD180	4064	genome.wustl.edu	37	5	66478815	66478815	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:66478815G>C	ENST00000256447.4	-	3	2013	c.1856C>G	c.(1855-1857)tCt>tGt	p.S619C	CTD-2306M10.1_ENST00000602471.1_lincRNA	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	619	LRRCT.				B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CTTGACATCAGATAGCTTAAC	0.398																																						dbGAP											0													126.0	126.0	126.0					5																	66478815		2203	4300	6503	-	-	-	SO:0001583	missense	0			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1856C>G	5.37:g.66478815G>C	ENSP00000256447:p.Ser619Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7Z7|Q32MM5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.S619C	ENST00000256447.4	37	c.1856	CCDS3992.1	5	.	.	.	.	.	.	.	.	.	.	G	8.944	0.966500	0.18659	.	.	ENSG00000134061	ENST00000256447	T	0.26518	1.73	5.7	3.9	0.45041	Cysteine-rich flanking region, C-terminal (1);	0.492839	0.18931	N	0.127214	T	0.33760	0.0874	M	0.72894	2.215	0.09310	N	1	D	0.69078	0.997	P	0.48677	0.586	T	0.16247	-1.0409	10	0.41790	T	0.15	.	9.4306	0.38608	0.0667:0.0:0.6747:0.2587	.	619	Q99467	CD180_HUMAN	C	619	ENSP00000256447:S619C	ENSP00000256447:S619C	S	-	2	0	CD180	66514571	0.041000	0.20044	0.004000	0.12327	0.209000	0.24338	2.270000	0.43355	0.729000	0.32403	0.563000	0.77884	TCT	CD180	-	smart_Cys-rich_flank_reg_C	ENSG00000134061		0.398	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD180	HGNC	protein_coding	OTTHUMT00000253973.2	53	0.00	0	G	NM_005582		66478815	66478815	-1	no_errors	ENST00000256447	ensembl	human	known	69_37n	missense	41	18.00	9	SNP	0.002	C
CD180	4064	genome.wustl.edu	37	5	66479281	66479281	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:66479281G>A	ENST00000256447.4	-	3	1547	c.1390C>T	c.(1390-1392)Ctt>Ttt	p.L464F	CTD-2306M10.1_ENST00000602471.1_lincRNA	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	464					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CCTGCTAGAAGATGCTGATTG	0.468																																						dbGAP											0													135.0	139.0	138.0					5																	66479281		2203	4300	6503	-	-	-	SO:0001583	missense	0			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1390C>T	5.37:g.66479281G>A	ENSP00000256447:p.Leu464Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7Z7|Q32MM5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L464F	ENST00000256447.4	37	c.1390	CCDS3992.1	5	.	.	.	.	.	.	.	.	.	.	G	7.783	0.709891	0.15239	.	.	ENSG00000134061	ENST00000256447	T	0.59224	0.28	5.11	5.11	0.69529	.	0.203965	0.33199	N	0.005177	T	0.41581	0.1165	L	0.41236	1.265	0.28653	N	0.906552	B	0.33000	0.393	B	0.27715	0.082	T	0.39522	-0.9610	10	0.40728	T	0.16	.	5.5274	0.16964	0.077:0.1404:0.6373:0.1452	.	464	Q99467	CD180_HUMAN	F	464	ENSP00000256447:L464F	ENSP00000256447:L464F	L	-	1	0	CD180	66515037	0.967000	0.33354	0.136000	0.22124	0.497000	0.33675	1.267000	0.33050	2.659000	0.90383	0.563000	0.77884	CTT	CD180	-	NULL	ENSG00000134061		0.468	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD180	HGNC	protein_coding	OTTHUMT00000253973.2	44	0.00	0	G	NM_005582		66479281	66479281	-1	no_errors	ENST00000256447	ensembl	human	known	69_37n	missense	45	15.09	8	SNP	0.245	A
CD44	960	genome.wustl.edu	37	11	35198253	35198253	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:35198253G>T	ENST00000428726.2	+	2	322	c.199G>T	c.(199-201)Gag>Tag	p.E67*	CD44_ENST00000360158.4_Nonsense_Mutation_p.E67*|CD44_ENST00000433354.2_Nonsense_Mutation_p.E67*|CD44_ENST00000263398.6_Nonsense_Mutation_p.E67*|CD44_ENST00000526669.2_Nonsense_Mutation_p.E67*|CD44_ENST00000526025.1_Nonsense_Mutation_p.E67*|CD44_ENST00000278386.6_Nonsense_Mutation_p.E67*|CD44_ENST00000352818.4_Nonsense_Mutation_p.E67*|CD44_ENST00000437706.2_Nonsense_Mutation_p.E67*|CD44_ENST00000433892.2_Nonsense_Mutation_p.E67*|CD44_ENST00000415148.2_Nonsense_Mutation_p.E67*|CD44_ENST00000434472.2_Nonsense_Mutation_p.E67*|CD44_ENST00000449691.2_Nonsense_Mutation_p.E67*	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	67	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	GGCCCAGATGGAGAAAGCTCT	0.572																																						dbGAP											0													53.0	50.0	51.0					11																	35198253		2202	4298	6500	-	-	-	SO:0001587	stop_gained	0			M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.199G>T	11.37:g.35198253G>T	ENSP00000398632:p.Glu67*	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Nonsense_Mutation	SNP	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_CD44_antigen,prints_Link	p.E67*	ENST00000428726.2	37	c.199	CCDS7897.1	11	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	31|31|31	5.094349|5.094349|5.094349	0.94149|0.94149|0.94149	.|.|.	.|.|.	ENSG00000026508|ENSG00000026508|ENSG00000026508	ENST00000263398;ENST00000526025;ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000360158;ENST00000428726;ENST00000433892;ENST00000278386;ENST00000434472;ENST00000352818;ENST00000525211;ENST00000526669;ENST00000526000;ENST00000279452|ENST00000442151;ENST00000528455|ENST00000527889	.|.|.	.|.|.	.|.|.	5.85|5.85|5.85	-2.6|-2.6|-2.6	0.06190|0.06190|0.06190	.|.|.	0.503195|.|.	0.22279|.|.	N|.|.	0.062143|.|.	.|T|T	.|0.36799|0.36799	.|0.0980|0.0980	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.44787|0.44787	.|-0.9305|-0.9305	.|3|3	0.29301|.|.	T|.|.	0.29|.|.	-12.9957|-12.9957|-12.9957	7.9322|7.9322|7.9322	0.29909|0.29909|0.29909	0.2077:0.4372:0.3551:0.0|0.2077:0.4372:0.3551:0.0|0.2077:0.4372:0.3551:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|V|C	67;67;67;67;67;67;67;67;67;67;67;67;46;46;45;27|66;3|22	.|.|.	ENSP00000263398:E67X|.|.	E|G|W	+|+|+	1|2|3	0|0|0	CD44|CD44|CD44	35154829|35154829|35154829	0.003000|0.003000|0.003000	0.15002|0.15002|0.15002	0.120000|0.120000|0.120000	0.21714|0.21714|0.21714	0.561000|0.561000|0.561000	0.35649|0.35649|0.35649	-1.193000|-1.193000|-1.193000	0.03049|0.03049|0.03049	-0.820000|-0.820000|-0.820000	0.04318|0.04318|0.04318	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAG|GGA|TGG	CD44	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link	ENSG00000026508		0.572	CD44-001	KNOWN	basic|CCDS	protein_coding	CD44	HGNC	protein_coding	OTTHUMT00000388927.1	23	0.00	0	G	NM_000610		35198253	35198253	+1	no_errors	ENST00000428726	ensembl	human	known	69_37n	nonsense	15	31.82	7	SNP	0.465	T
CDC40	51362	genome.wustl.edu	37	6	110501679	110501679	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:110501679C>T	ENST00000368932.1	+	2	133	c.32C>T	c.(31-33)tCc>tTc	p.S11F	WASF1_ENST00000392586.1_5'Flank|CDC40_ENST00000368930.1_Missense_Mutation_p.S11F|CDC40_ENST00000307731.1_Missense_Mutation_p.S11F|WASF1_ENST00000359451.2_5'Flank|WASF1_ENST00000392587.2_5'Flank|WASF1_ENST00000392588.1_5'Flank|WASF1_ENST00000392589.1_5'Flank			O60508	PRP17_HUMAN	cell division cycle 40	11					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		CTGGCCGCTTCCTATGGTTCG	0.602																																						dbGAP											0													58.0	56.0	57.0					6																	110501679		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.32C>T	6.37:g.110501679C>T	ENSP00000357928:p.Ser11Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S11F	ENST00000368932.1	37	c.32	CCDS5081.1	6	.	.	.	.	.	.	.	.	.	.	C	17.87	3.493886	0.64186	.	.	ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731;ENST00000439165	T;T;T;T	0.63096	0.13;-0.02;-0.02;0.13	5.54	5.54	0.83059	.	0.053749	0.85682	D	0.000000	T	0.41259	0.1151	L	0.55481	1.735	0.80722	D	1	B	0.13594	0.008	B	0.11329	0.006	T	0.25012	-1.0144	10	0.23891	T	0.37	-8.2848	11.8468	0.52389	0.1741:0.8259:0.0:0.0	.	11	O60508	PRP17_HUMAN	F	11	ENSP00000357928:S11F;ENSP00000357929:S11F;ENSP00000357926:S11F;ENSP00000304370:S11F	ENSP00000304370:S11F	S	+	2	0	CDC40	110608372	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.243000	0.43115	2.884000	0.98904	0.655000	0.94253	TCC	CDC40	-	NULL	ENSG00000168438		0.602	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC40	HGNC	protein_coding	OTTHUMT00000041791.1	35	0.00	0	C	NM_015891		110501679	110501679	+1	no_errors	ENST00000307731	ensembl	human	known	69_37n	missense	34	30.61	15	SNP	1.000	T
CDCA8	55143	genome.wustl.edu	37	1	38171204	38171204	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:38171204G>C	ENST00000373055.1	+	8	949	c.676G>C	c.(676-678)Gag>Cag	p.E226Q	CDCA8_ENST00000327331.2_Missense_Mutation_p.E226Q	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	226					chromosome organization (GO:0051276)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGACAGCAAAGAGATCTTCCT	0.547																																						dbGAP											0													91.0	85.0	87.0					1																	38171204		2203	4300	6503	-	-	-	SO:0001583	missense	0			BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690			14629	protein-coding gene	gene with protein product	"""borealin"""	609977				12188893, 15260989	Standard	NM_001256875		Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.676G>C	1.37:g.38171204G>C	ENSP00000362146:p.Glu226Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPT4|Q53HN1|Q96AM3|Q9NVW5	Missense_Mutation	SNP	pfam_Cell_div_borealin,pfam_Borealin-like_N	p.E226Q	ENST00000373055.1	37	c.676	CCDS424.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529986	0.85706	.	.	ENSG00000134690	ENST00000373055;ENST00000327331	T;T	0.47177	0.85;0.85	5.77	5.77	0.91146	.	0.092545	0.64402	D	0.000001	T	0.64114	0.2569	M	0.61703	1.905	0.44555	D	0.99751	D	0.63046	0.992	P	0.60415	0.874	T	0.64508	-0.6391	10	0.59425	D	0.04	-17.9602	17.4863	0.87689	0.0:0.0:1.0:0.0	.	226	Q53HL2	BOREA_HUMAN	Q	226	ENSP00000362146:E226Q;ENSP00000316121:E226Q	ENSP00000316121:E226Q	E	+	1	0	CDCA8	37943791	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.825000	0.69286	2.721000	0.93114	0.655000	0.94253	GAG	CDCA8	-	pfam_Cell_div_borealin	ENSG00000134690		0.547	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA8	HGNC	protein_coding	OTTHUMT00000012473.1	52	0.00	0	G	NM_018101		38171204	38171204	+1	no_errors	ENST00000327331	ensembl	human	known	69_37n	missense	41	12.77	6	SNP	1.000	C
CDH10	1008	genome.wustl.edu	37	5	24535355	24535355	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:24535355C>T	ENST00000264463.4	-	5	1187	c.680G>A	c.(679-681)aGa>aAa	p.R227K		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	227	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCTGTTTTCTCTGTTCATGTT	0.423										HNSCC(23;0.051)																												dbGAP											0													197.0	160.0	172.0					5																	24535355		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.680G>A	5.37:g.24535355C>T	ENSP00000264463:p.Arg227Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R227K	ENST00000264463.4	37	c.680	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.682594	0.96774	.	.	ENSG00000040731	ENST00000264463	T	0.01705	4.68	5.69	5.69	0.88448	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.15782	0.0380	M	0.91717	3.235	0.47511	D	0.999448	D	0.89917	1.0	D	0.81914	0.995	T	0.00443	-1.1736	10	0.87932	D	0	.	18.8001	0.92013	0.0:1.0:0.0:0.0	.	227	Q9Y6N8	CAD10_HUMAN	K	227	ENSP00000264463:R227K	ENSP00000264463:R227K	R	-	2	0	CDH10	24571112	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.686000	0.91538	0.655000	0.94253	AGA	CDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000040731		0.423	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	70	0.00	0	C	NM_006727		24535355	24535355	-1	no_errors	ENST00000264463	ensembl	human	known	69_37n	missense	89	11.00	11	SNP	1.000	T
CDK19	23097	genome.wustl.edu	37	6	111136325	111136325	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:111136325G>C	ENST00000368911.3	-	1	194	c.15C>G	c.(13-15)ttC>ttG	p.F5L	CDK19_ENST00000323817.3_Intron|CDK19_ENST00000497709.1_Intron	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	5							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GCTTCGCCTTGAAATCATAAT	0.652																																						dbGAP											0													73.0	71.0	72.0					6																	111136325		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.15C>G	6.37:g.111136325G>C	ENSP00000357907:p.Phe5Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F5L	ENST00000368911.3	37	c.15	CCDS5085.1	6	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419843	0.83559	.	.	ENSG00000155111	ENST00000368911	T	0.64085	-0.08	3.41	2.52	0.30459	.	0.131175	0.50627	D	0.000117	T	0.68686	0.3028	M	0.82923	2.615	0.80722	D	1	D	0.65815	0.995	D	0.65443	0.935	T	0.71902	-0.4452	10	0.72032	D	0.01	-16.5678	6.845	0.23982	0.2239:0.0:0.7761:0.0	.	5	Q9BWU1	CDK19_HUMAN	L	5	ENSP00000357907:F5L	ENSP00000357907:F5L	F	-	3	2	CDK19	111243018	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.423000	0.59861	1.909000	0.55274	0.550000	0.68814	TTC	CDK19	-	NULL	ENSG00000155111		0.652	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK19	HGNC	protein_coding	OTTHUMT00000041804.1	81	0.00	0	G	NM_015076		111136325	111136325	-1	no_errors	ENST00000368911	ensembl	human	known	69_37n	missense	108	19.40	26	SNP	1.000	C
CDKN1B	1027	genome.wustl.edu	37	12	12871086	12871086	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:12871086G>T	ENST00000228872.4	+	1	1029	c.313G>T	c.(313-315)Gag>Tag	p.E105*	CDKN1B_ENST00000396340.1_Nonsense_Mutation_p.E105*|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	105					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GCCGGCGCAGGAGAGCCAGGA	0.642																																						dbGAP											0													27.0	36.0	33.0					12																	12871086		2198	4299	6497	-	-	-	SO:0001587	stop_gained	0			AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.313G>T	12.37:g.12871086G>T	ENSP00000228872:p.Glu105*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16307|Q5U0H2|Q9BUS6	Nonsense_Mutation	SNP	pfam_CDI	p.E105*	ENST00000228872.4	37	c.313	CCDS8653.1	12	.	.	.	.	.	.	.	.	.	.	G	44	10.646786	0.99443	.	.	ENSG00000111276	ENST00000228872;ENST00000535674;ENST00000396340	.	.	.	5.4	5.4	0.78164	.	0.188680	0.46442	D	0.000289	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-14.8363	13.5967	0.61994	0.0:0.2794:0.7206:0.0	.	.	.	.	X	105;54;105	.	ENSP00000228872:E105X	E	+	1	0	CDKN1B	12762353	1.000000	0.71417	0.976000	0.42696	0.803000	0.45373	3.182000	0.50910	2.536000	0.85505	0.650000	0.86243	GAG	CDKN1B	-	NULL	ENSG00000111276		0.642	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN1B	HGNC	protein_coding	OTTHUMT00000313878.2	24	0.00	0	G	NM_004064		12871086	12871086	+1	no_errors	ENST00000228872	ensembl	human	known	69_37n	nonsense	22	29.03	9	SNP	1.000	T
CENPE	1062	genome.wustl.edu	37	4	104116339	104116339	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:104116339C>T	ENST00000265148.3	-	5	498	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	CENPE_ENST00000380026.3_Missense_Mutation_p.E137K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	137	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GTAATGGTTTCATTGTATATT	0.318																																						dbGAP											0													83.0	85.0	84.0					4																	104116339		2203	4293	6496	-	-	-	SO:0001583	missense	0			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.409G>A	4.37:g.104116339C>T	ENSP00000265148:p.Glu137Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.E137K	ENST00000265148.3	37	c.409	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.318918	0.95682	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	D;D;D	0.83163	-1.69;-1.69;-1.69	5.94	5.1	0.69264	Kinesin, motor domain (4);	.	.	.	.	D	0.94631	0.8269	H	0.98682	4.3	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.79784	0.905;0.993	D	0.96547	0.9405	9	0.87932	D	0	.	14.9301	0.70908	0.0:0.932:0.0:0.068	.	137;137	Q02224-3;Q02224	.;CENPE_HUMAN	K	137	ENSP00000265148:E137K;ENSP00000369365:E137K;ENSP00000423981:E137K	ENSP00000265148:E137K	E	-	1	0	CENPE	104335788	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.429000	0.66495	1.527000	0.49086	0.650000	0.86243	GAA	CENPE	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000138778		0.318	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		53	0.00	0	C			104116339	104116339	-1	no_errors	ENST00000265148	ensembl	human	known	69_37n	missense	33	13.16	5	SNP	1.000	T
ADCY3	109	genome.wustl.edu	37	2	25042510	25042510	+	3'UTR	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:25042510C>T	ENST00000260600.5	-	0	4577				ADCY3_ENST00000405392.1_3'UTR|CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000395845.2_3'UTR|CENPO_ENST00000473706.1_3'UTR|CENPO_ENST00000260662.1_3'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3						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)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCCTCCTGCTCACAGTGGTCA	0.637																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.*291G>A	2.37:g.25042510C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT86|Q53T54|Q9UDB1	RNA	SNP	-	NULL	ENST00000260600.5	37	NULL	CCDS1715.1	2																																																																																			CENPO	-	-	ENSG00000138092		0.637	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPO	HGNC	protein_coding	OTTHUMT00000211574.2	25	0.00	0	C			25042510	25042510	+1	no_errors	ENST00000395845	ensembl	human	putative	69_37n	rna	31	16.22	6	SNP	1.000	T
CEP164	22897	genome.wustl.edu	37	11	117280452	117280452	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:117280452G>A	ENST00000278935.3	+	30	4014	c.3867G>A	c.(3865-3867)tcG>tcA	p.S1289S	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1289					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACCCTCAGTCGCCGCCGCCGC	0.667																																						dbGAP											0													92.0	102.0	98.0					11																	117280452		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3867G>A	11.37:g.117280452G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.S1289	ENST00000278935.3	37	c.3867	CCDS31683.1	11																																																																																			CEP164	-	NULL	ENSG00000110274		0.667	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	HGNC	protein_coding	OTTHUMT00000392893.1	65	0.00	0	G	NM_014956		117280452	117280452	+1	no_errors	ENST00000278935	ensembl	human	known	69_37n	silent	53	18.46	12	SNP	0.000	A
CEP350	9857	genome.wustl.edu	37	1	180010347	180010347	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:180010347G>C	ENST00000367607.3	+	18	4603	c.4185G>C	c.(4183-4185)caG>caC	p.Q1395H		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1395					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TGGAGAGTCAGAGACAATTAG	0.373																																						dbGAP											0													41.0	38.0	39.0					1																	180010347		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4185G>C	1.37:g.180010347G>C	ENSP00000356579:p.Gln1395His	Somatic		WXS	Illumina GAIIx	Phase_IV	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.Q1395H	ENST00000367607.3	37	c.4185	CCDS1336.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.72|19.72	3.879694|3.879694	0.72294|0.72294	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000418229|ENST00000367607	.|T	.|0.09723	.|2.95	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.160399	.|0.29335	.|N	.|0.012445	T|T	0.19685|0.19685	0.0473|0.0473	L|L	0.32530|0.32530	0.975|0.975	0.41489|0.41489	D|D	0.988219|0.988219	.|D;D	.|0.67145	.|0.996;0.993	.|D;P	.|0.75484	.|0.986;0.818	T|T	0.01178|0.01178	-1.1427|-1.1427	5|9	.|.	.|.	.|.	.|.	9.9294|9.9294	0.41512|0.41512	0.1536:0.0:0.8464:0.0|0.1536:0.0:0.8464:0.0	.|.	.|1395;1395	.|E7EU22;Q5VT06	.|.;CE350_HUMAN	Q|H	4|1395	.|ENSP00000356579:Q1395H	.|.	E|Q	+|+	1|3	0|2	CEP350|CEP350	178276970|178276970	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	2.846000|2.846000	0.48262|0.48262	2.551000|2.551000	0.86045|0.86045	0.591000|0.591000	0.81541|0.81541	GAG|CAG	CEP350	-	NULL	ENSG00000135837		0.373	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	42	0.00	0	G	NM_014810		180010347	180010347	+1	no_errors	ENST00000367607	ensembl	human	known	69_37n	missense	34	34.62	18	SNP	1.000	C
CEP78	84131	genome.wustl.edu	37	9	80868264	80868264	+	Intron	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:80868264C>T	ENST00000424347.2	+	10	1540				CEP78_ENST00000376597.4_Intron|CEP78_ENST00000487108.2_3'UTR|CEP78_ENST00000415759.2_Intron|CEP78_ENST00000376598.2_Intron|CEP78_ENST00000277082.5_Intron			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						TCTCTGTGCTCTTTAAATTGA	0.388																																						dbGAP											0													101.0	86.0	91.0					9																	80868264		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1251+71C>T	9.37:g.80868264C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	RNA	SNP	-	NULL	ENST00000424347.2	37	NULL		9																																																																																			CEP78	-	-	ENSG00000148019		0.388	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	CEP78	HGNC	protein_coding	OTTHUMT00000052766.2	38	0.00	0	C	XM_095991		80868264	80868264	+1	no_errors	ENST00000487108	ensembl	human	known	69_37n	rna	38	24.00	12	SNP	0.004	T
CFH	3075	genome.wustl.edu	37	1	196709772	196709772	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:196709772G>A	ENST00000367429.4	+	18	3046	c.2806G>A	c.(2806-2808)Gag>Aag	p.E936K		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	936	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.		E -> D (polymorphism associated with hemolytic uremic syndrome and basal laminar drusen; dbSNP:rs1065489). {ECO:0000269|PubMed:14583443, ECO:0000269|PubMed:18252232, ECO:0000269|PubMed:20513133, ECO:0000269|Ref.2}.		complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATCTCCACCTGAGATTTCTCA	0.338																																						dbGAP											0													114.0	111.0	112.0					1																	196709772		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2806G>A	1.37:g.196709772G>A	ENSP00000356399:p.Glu936Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E936K	ENST00000367429.4	37	c.2806	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	.	14.33	2.503071	0.44558	.	.	ENSG00000000971	ENST00000367429	T	0.65178	-0.14	6.16	-6.86	0.01676	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.32071	0.0817	N	0.25426	0.745	0.09310	N	1	P	0.37573	0.6	B	0.30179	0.112	T	0.37009	-0.9724	9	0.06365	T	0.9	.	6.3297	0.21262	0.0876:0.1409:0.5384:0.2331	.	936	P08603	CFAH_HUMAN	K	936	ENSP00000356399:E936K	ENSP00000356399:E936K	E	+	1	0	CFH	194976395	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.960000	0.01517	-1.088000	0.03077	-0.284000	0.09977	GAG	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000000971		0.338	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	60	0.00	0	G	NM_000186		196709772	196709772	+1	no_errors	ENST00000367429	ensembl	human	known	69_37n	missense	42	45.45	35	SNP	0.000	A
CFL2	1073	genome.wustl.edu	37	14	35182735	35182735	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:35182735G>A	ENST00000341223.3	-	2	187	c.36C>T	c.(34-36)atC>atT	p.I12I	CFL2_ENST00000555765.1_5'UTR|CFL2_ENST00000298159.6_Silent_p.I12I|CFL2_ENST00000556161.1_5'UTR	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	12	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of actin filament depolymerization (GO:0030836)|regulation of dendritic spine morphogenesis (GO:0061001)|sarcomere organization (GO:0045214)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|nucleus (GO:0005634)				breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		TAAAAACTTTGATGACTTCAT	0.333																																						dbGAP											0													60.0	59.0	59.0					14																	35182735		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF087867	CCDS9649.1, CCDS9650.1, CCDS58311.1	14q13.2	2014-09-17			ENSG00000165410	ENSG00000165410			1875	protein-coding gene	gene with protein product	"""nemaline myopathy type 7"""	601443				8800436	Standard	NM_138638		Approved	NEM7	uc001wsh.3	Q9Y281	OTTHUMG00000029536	ENST00000341223.3:c.36C>T	14.37:g.35182735G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	G3V5P4	Silent	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin	p.I12	ENST00000341223.3	37	c.36	CCDS9650.1	14																																																																																			CFL2	-	NULL	ENSG00000165410		0.333	CFL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CFL2	HGNC	protein_coding	OTTHUMT00000276639.1	28	0.00	0	G	NM_138638		35182735	35182735	-1	no_errors	ENST00000298159	ensembl	human	known	69_37n	silent	17	19.05	4	SNP	1.000	A
CHAT	1103	genome.wustl.edu	37	10	50835753	50835753	+	Missense_Mutation	SNP	G	G	A	rs200776329		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr10:50835753G>A	ENST00000337653.2	+	7	1186	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	CHAT_ENST00000395562.2_Missense_Mutation_p.E263K|CHAT_ENST00000351556.3_Missense_Mutation_p.E227K|CHAT_ENST00000339797.1_Missense_Mutation_p.E227K|CHAT_ENST00000455728.2_Missense_Mutation_p.E227K|CHAT_ENST00000395559.2_Missense_Mutation_p.E227K	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	345					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CAACGAGGACGAGCGTTTGCC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		22438	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													140.0	117.0	125.0					10																	50835753		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1033G>A	10.37:g.50835753G>A	ENSP00000337103:p.Glu345Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.E345K	ENST00000337653.2	37	c.1033	CCDS7232.1	10	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.5	4.156053	0.78114	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	5.35	4.44	0.53790	.	0.148738	0.64402	D	0.000017	D	0.83608	0.5291	L	0.53729	1.69	0.58432	D	0.999992	P;D	0.61697	0.553;0.99	B;P	0.57846	0.152;0.828	T	0.80425	-0.1388	10	0.15066	T	0.55	-12.1942	15.9165	0.79524	0.0:0.1469:0.8531:0.0	.	227;345	F8W8I2;P28329	.;CLAT_HUMAN	K	227;227;227;345;263;227	ENSP00000343486:E227K;ENSP00000345878:E227K;ENSP00000378926:E227K;ENSP00000337103:E345K;ENSP00000378929:E263K;ENSP00000390521:E227K	ENSP00000337103:E345K	E	+	1	0	CHAT	50505759	1.000000	0.71417	0.715000	0.30552	0.977000	0.68977	7.522000	0.81844	1.350000	0.45770	0.591000	0.81541	GAG	CHAT	-	pfam_Carn_acyl_trans	ENSG00000070748		0.552	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	HGNC	protein_coding	OTTHUMT00000047997.1	65	0.00	0	G	NM_020549		50835753	50835753	+1	no_errors	ENST00000337653	ensembl	human	known	69_37n	missense	94	12.15	13	SNP	0.998	A
CHD5	26038	genome.wustl.edu	37	1	6194863	6194863	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:6194863C>T	ENST00000262450.3	-	19	3026	c.2927G>A	c.(2926-2928)gGc>gAc	p.G976D	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTGGTTCCCGCCCCCCTTGGA	0.577																																						dbGAP											0													266.0	266.0	266.0					1																	6194863		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2927G>A	1.37:g.6194863C>T	ENSP00000262450:p.Gly976Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G976D	ENST00000262450.3	37	c.2927	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814859	0.90790	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	T	0.77750	-1.12	4.6	4.6	0.57074	SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.84942	0.5584	L	0.46614	1.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86918	0.2065	10	0.87932	D	0	-17.7483	17.7798	0.88520	0.0:1.0:0.0:0.0	.	976	Q8TDI0	CHD5_HUMAN	D	976;492;384;384	ENSP00000262450:G976D	ENSP00000262450:G976D	G	-	2	0	CHD5	6117450	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.637000	0.83313	2.277000	0.76020	0.561000	0.74099	GGC	CHD5	-	pfam_SNF2_N	ENSG00000116254		0.577	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	92	0.00	0	C	NM_015557		6194863	6194863	-1	no_errors	ENST00000262450	ensembl	human	known	69_37n	missense	89	26.45	32	SNP	1.000	T
CHD9	80205	genome.wustl.edu	37	16	53261490	53261490	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:53261490G>C	ENST00000398510.3	+	6	2230	c.2143G>C	c.(2143-2145)Gaa>Caa	p.E715Q	CHD9_ENST00000566029.1_Missense_Mutation_p.E715Q|CHD9_ENST00000564845.1_Missense_Mutation_p.E715Q|CHD9_ENST00000447540.1_Missense_Mutation_p.E715Q			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	715	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGATACAGAAGAATTTTTTGT	0.234																																						dbGAP											0													39.0	33.0	35.0					16																	53261490		1676	3797	5473	-	-	-	SO:0001583	missense	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2143G>C	16.37:g.53261490G>C	ENSP00000381522:p.Glu715Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E715Q	ENST00000398510.3	37	c.2143		16	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994360	0.93167	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.61859	0.07;0.07	5.46	5.46	0.80206	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.64402	D	0.000010	T	0.74749	0.3757	M	0.63428	1.95	0.80722	D	1	P;P;D;D	0.76494	0.874;0.918;0.999;0.998	P;P;D;D	0.83275	0.734;0.882;0.996;0.994	T	0.72144	-0.4379	10	0.40728	T	0.16	-22.6638	19.6732	0.95918	0.0:0.0:1.0:0.0	.	241;715;715;715	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	Q	715;715;241	ENSP00000396345:E715Q;ENSP00000381522:E715Q	ENSP00000219084:E241Q	E	+	1	0	CHD9	51818991	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.474000	0.97718	2.730000	0.93505	0.591000	0.81541	GAA	CHD9	-	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	ENSG00000177200		0.234	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	54	0.00	0	G	NM_025134		53261490	53261490	+1	no_errors	ENST00000398510	ensembl	human	known	69_37n	missense	41	29.31	17	SNP	1.000	C
CHID1	66005	genome.wustl.edu	37	11	900964	900964	+	Silent	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:900964G>C	ENST00000449825.1	-	5	767	c.411C>G	c.(409-411)gtC>gtG	p.V137V	CHID1_ENST00000323578.8_Silent_p.V137V|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000436108.2_Silent_p.V137V|CHID1_ENST00000429789.2_Silent_p.V137V|CHID1_ENST00000323541.7_Silent_p.V167V|CHID1_ENST00000336845.5_Silent_p.V162V|CHID1_ENST00000454838.2_Silent_p.V162V|CHID1_ENST00000528581.1_Silent_p.V162V	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	137					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CATGCTTCCTGACAGCTCGCA	0.627																																					Pancreas(117;992 2327 5172 41921)	dbGAP											0													77.0	63.0	67.0					11																	900964		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.411C>G	11.37:g.900964G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Nonsense_Mutation	SNP	superfamily_Glycoside_hydrolase_SF	p.S154*	ENST00000449825.1	37	c.461	CCDS7722.1	11																																																																																			CHID1	-	NULL	ENSG00000177830		0.627	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CHID1	HGNC	protein_coding	OTTHUMT00000257112.1	21	0.00	0	G	NM_023947		900964	900964	-1	no_errors	ENST00000534254	ensembl	human	known	69_37n	nonsense	23	14.81	4	SNP	0.230	C
CHN1	1123	genome.wustl.edu	37	2	175664667	175664667	+	3'UTR	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:175664667C>T	ENST00000409900.3	-	0	1870				CHN1_ENST00000409597.1_3'UTR|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000295497.7_3'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1						ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			AGCGTGTGTTCACTGTTTTAC	0.413			T	TAF15	extraskeletal myxoid chondrosarcoma																																	dbGAP		Dom	yes		2	2q31-q32.1	1123	chimerin (chimaerin) 1		M	0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.*177G>A	2.37:g.175664667C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	RNA	SNP	-	NULL	ENST00000409900.3	37	NULL	CCDS46455.1	2																																																																																			CHN1	-	-	ENSG00000128656		0.413	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHN1	HGNC	protein_coding	OTTHUMT00000334453.1	27	0.00	0	C	NM_001822		175664667	175664667	-1	no_errors	ENST00000488080	ensembl	human	known	69_37n	rna	13	31.58	6	SNP	1.000	T
CHST15	51363	genome.wustl.edu	37	10	125804103	125804103	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr10:125804103C>T	ENST00000346248.5	-	3	1521	c.879G>A	c.(877-879)aaG>aaA	p.K293K	CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000435907.1_Silent_p.K293K|CHST15_ENST00000421115.1_Silent_p.K293K	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	293					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CACCAAAGCGCTTCCGGGTCC	0.637																																						dbGAP											0													27.0	29.0	28.0					10																	125804103		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.879G>A	10.37:g.125804103C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O60338|O60474|Q86VM4	Silent	SNP	pfam_Sulfotransferase_dom	p.K293	ENST00000346248.5	37	c.879	CCDS7638.1	10																																																																																			CHST15	-	pfam_Sulfotransferase_dom	ENSG00000182022		0.637	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST15	HGNC	protein_coding	OTTHUMT00000050856.1	21	0.00	0	C	NM_015892		125804103	125804103	-1	no_errors	ENST00000346248	ensembl	human	known	69_37n	silent	22	18.52	5	SNP	0.998	T
CHTF18	63922	genome.wustl.edu	37	16	845741	845741	+	Silent	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:845741C>A	ENST00000262315.9	+	17	2295	c.2232C>A	c.(2230-2232)atC>atA	p.I744I	CHTF18_ENST00000455171.2_Silent_p.I772I|CHTF18_ENST00000317063.6_Silent_p.I953I	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	744					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				TGTCCGGCATCGCGCCAGCCA	0.697																																						dbGAP											0													15.0	21.0	19.0					16																	845741		2106	4185	6291	-	-	-	SO:0001819	synonymous_variant	0			BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.2232C>A	16.37:g.845741C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Silent	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	p.I953	ENST00000262315.9	37	c.2859	CCDS45371.1	16																																																																																			CHTF18	-	NULL	ENSG00000127586		0.697	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHTF18	HGNC	protein_coding	OTTHUMT00000109061.3	31	0.00	0	C	NM_022092		845741	845741	+1	no_errors	ENST00000317063	ensembl	human	known	69_37n	silent	40	21.57	11	SNP	0.001	A
CLCN7	1186	genome.wustl.edu	37	16	1511649	1511649	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:1511649G>A	ENST00000382745.4	-	3	845	c.240C>T	c.(238-240)ccC>ccT	p.P80P	CLCN7_ENST00000448525.1_Silent_p.P56P|CLCN7_ENST00000262318.8_Silent_p.P56P	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	80					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GGATCTCCTTGGGGAAGGGAT	0.592																																						dbGAP											0													130.0	104.0	113.0					16																	1511649		2199	4300	6499	-	-	-	SO:0001819	synonymous_variant	0			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.240C>T	16.37:g.1511649G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-7	p.P80	ENST00000382745.4	37	c.240	CCDS32361.1	16																																																																																			CLCN7	-	NULL	ENSG00000103249		0.592	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN7	HGNC	protein_coding	OTTHUMT00000103598.2	47	0.00	0	G	NM_001287		1511649	1511649	-1	no_errors	ENST00000382745	ensembl	human	known	69_37n	silent	51	20.31	13	SNP	1.000	A
CLDN18	51208	genome.wustl.edu	37	3	137729229	137729229	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:137729229G>A	ENST00000183605.5	+	1	388	c.162G>A	c.(160-162)gtG>gtA	p.V54V	CLDN18_ENST00000343735.4_Intron	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	54					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GGAGCTGCGTGAGGCAGAGTT	0.622																																						dbGAP											0													77.0	69.0	72.0					3																	137729229		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"""Claudins"""	2039	protein-coding gene	gene with protein product		609210	"""surfactant associated protein J"""	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000183605.5:c.162G>A	3.37:g.137729229G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL21|Q96PH4	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin	p.V54	ENST00000183605.5	37	c.162	CCDS3095.1	3																																																																																			CLDN18	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000066405		0.622	CLDN18-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLDN18	HGNC	protein_coding	OTTHUMT00000357199.2	60	0.00	0	G	NM_001002026		137729229	137729229	+1	no_errors	ENST00000183605	ensembl	human	known	69_37n	silent	50	23.08	15	SNP	0.149	A
CLEC4D	338339	genome.wustl.edu	37	12	8673751	8673751	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:8673751C>G	ENST00000299665.2	+	6	725	c.532C>G	c.(532-534)Cag>Gag	p.Q178E		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	178	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					CGACAACTCTCAGGGAGAAAA	0.348																																						dbGAP											0													126.0	122.0	123.0					12																	8673751		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"""C-type lectin domain containing"""	14554	protein-coding gene	gene with protein product		609964	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"""	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.532C>G	12.37:g.8673751C>G	ENSP00000299665:p.Gln178Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5J5	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.Q178E	ENST00000299665.2	37	c.532	CCDS8593.1	12	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.651583	0.00785	.	.	ENSG00000166527	ENST00000299665	T	0.16597	2.33	3.95	-0.193	0.13244	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.09992	0.0245	L	0.35793	1.09	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.42666	-0.9438	9	0.05436	T	0.98	.	7.0119	0.24867	0.5168:0.3255:0.1577:0.0	.	178	Q8WXI8	CLC4D_HUMAN	E	178	ENSP00000299665:Q178E	ENSP00000299665:Q178E	Q	+	1	0	CLEC4D	8565018	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.199000	0.09491	-0.046000	0.13446	-0.904000	0.02843	CAG	CLEC4D	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000166527		0.348	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4D	HGNC	protein_coding	OTTHUMT00000400565.1	15	0.00	0	C	NM_080387		8673751	8673751	+1	no_errors	ENST00000299665	ensembl	human	known	69_37n	missense	21	25.00	7	SNP	0.001	G
CLIP2	7461	genome.wustl.edu	37	7	73800910	73800910	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:73800910G>A	ENST00000395060.1	+	11	2539	c.2539G>A	c.(2539-2541)Gag>Aag	p.E847K	CLIP2_ENST00000223398.6_Missense_Mutation_p.E847K|CLIP2_ENST00000361545.5_Missense_Mutation_p.E812K			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	847						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CTCCCAGACCGAGATGCTCAG	0.587																																						dbGAP											0													82.0	70.0	74.0					7																	73800910		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2539G>A	7.37:g.73800910G>A	ENSP00000378500:p.Glu847Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O14527|O43611	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.E847K	ENST00000395060.1	37	c.2539	CCDS5569.1	7	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785369	0.70337	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060;ENST00000493166	D;D;D	0.81579	-1.51;-1.51;-1.51	4.67	4.67	0.58626	.	0.172858	0.50627	D	0.000120	T	0.67031	0.2850	L	0.29908	0.895	0.37617	D	0.921173	P;P	0.47191	0.891;0.826	B;B	0.34242	0.178;0.086	T	0.70949	-0.4733	10	0.21014	T	0.42	-27.6199	16.5609	0.84566	0.0:0.0:1.0:0.0	.	812;847	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	K	847;847;812;847;99	ENSP00000223398:E847K;ENSP00000355151:E812K;ENSP00000378500:E847K	ENSP00000223398:E847K	E	+	1	0	CLIP2	73438846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.793000	0.75130	2.310000	0.77875	0.650000	0.86243	GAG	CLIP2	-	NULL	ENSG00000106665		0.587	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	HGNC	protein_coding	OTTHUMT00000252556.1	28	0.00	0	G	NM_003388		73800910	73800910	+1	no_errors	ENST00000223398	ensembl	human	known	69_37n	missense	33	28.26	13	SNP	1.000	A
CLK3	1198	genome.wustl.edu	37	15	74919701	74919701	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr15:74919701G>A	ENST00000395066.3	+	8	1731	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000352989.5_Missense_Mutation_p.E253K|CLK3_ENST00000345005.4_Missense_Mutation_p.E276K	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	424	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AGTTCTGCATGAGAATCAGCT	0.498																																					Ovarian(133;694 1754 28950 29027 31859)	dbGAP											0													206.0	211.0	209.0					15																	74919701		2197	4296	6493	-	-	-	SO:0001583	missense	0			L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.1270G>A	15.37:g.74919701G>A	ENSP00000378505:p.Glu424Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E424K	ENST00000395066.3	37	c.1270	CCDS45304.1	15	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210867	0.79240	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989	T;T	0.20738	2.05;2.05	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.071153	0.56097	D	0.000021	T	0.21227	0.0511	N	0.20807	0.61	0.80722	D	1	B;B;B;B	0.28584	0.003;0.216;0.143;0.001	B;B;B;B	0.35813	0.026;0.143;0.211;0.012	T	0.05386	-1.0888	10	0.49607	T	0.09	.	20.1278	0.97990	0.0:0.0:1.0:0.0	.	424;129;203;253	P49761;B3KVF3;B3KUU7;G5E959	CLK3_HUMAN;.;.;.	K	276;276;424;253	ENSP00000344112:E276K;ENSP00000323106:E253K	ENSP00000344112:E276K	E	+	1	0	CLK3	72706754	1.000000	0.71417	0.975000	0.42487	0.760000	0.43138	9.716000	0.98752	2.768000	0.95171	0.561000	0.74099	GAG	CLK3	-	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	ENSG00000179335		0.498	CLK3-003	KNOWN	basic|CCDS	protein_coding	CLK3	HGNC	protein_coding	OTTHUMT00000390442.3	44	0.00	0	G			74919701	74919701	+1	no_errors	ENST00000395066	ensembl	human	known	69_37n	missense	35	12.50	5	SNP	1.000	A
CLPTM1L	81037	genome.wustl.edu	37	5	1320765	1320765	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:1320765C>T	ENST00000320895.5	-	16	1755	c.1498G>A	c.(1498-1500)Gac>Aac	p.D500N	CLPTM1L_ENST00000507807.1_Missense_Mutation_p.D331N|CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.D464N	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	500					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		AACACCACGTCGTCCCGGAAG	0.607																																						dbGAP											0													89.0	61.0	70.0					5																	1320765		1975	3692	5667	-	-	-	SO:0001583	missense	0			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.1498G>A	5.37:g.1320765C>T	ENSP00000313854:p.Asp500Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	pfam_CLPTM1	p.D500N	ENST00000320895.5	37	c.1498	CCDS3862.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.363445	0.95877	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.66815	-0.23;0.12;0.03	5.05	5.05	0.67936	.	0.045541	0.85682	D	0.000000	D	0.84338	0.5450	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87278	0.2290	10	0.87932	D	0	-39.6697	17.5272	0.87804	0.0:1.0:0.0:0.0	.	500;331	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	N	500;331;464	ENSP00000313854:D500N;ENSP00000423321:D331N;ENSP00000315196:D464N	ENSP00000313854:D500N	D	-	1	0	CLPTM1L	1373765	1.000000	0.71417	0.990000	0.47175	0.806000	0.45545	6.856000	0.75450	2.496000	0.84212	0.655000	0.94253	GAC	CLPTM1L	-	NULL	ENSG00000049656		0.607	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1L	HGNC	protein_coding	OTTHUMT00000253649.2	28	0.00	0	C	NM_030782		1320765	1320765	-1	no_errors	ENST00000320895	ensembl	human	known	69_37n	missense	34	12.82	5	SNP	1.000	T
CMIP	80790	genome.wustl.edu	37	16	81679139	81679139	+	Intron	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:81679139G>A	ENST00000537098.3	+	4	549				CMIP_ENST00000539778.2_Intron|CMIP_ENST00000398040.4_5'UTR|CMIP_ENST00000566513.1_Intron	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein							cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						TCCCTGGCCTGAGAACCCTGG	0.572																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.478-6669G>A	16.37:g.81679139G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9C0G9	RNA	SNP	-	NULL	ENST00000537098.3	37	NULL	CCDS54044.1	16																																																																																			CMIP	-	-	ENSG00000153815		0.572	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMIP	HGNC	protein_coding	OTTHUMT00000432399.2	20	0.00	0	G	NM_030629		81679139	81679139	+1	no_errors	ENST00000564666	ensembl	human	putative	69_37n	rna	17	39.29	11	SNP	0.000	A
CNBD1	168975	genome.wustl.edu	37	8	88365898	88365898	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:88365898T>G	ENST00000518476.1	+	10	1238	c.1187T>G	c.(1186-1188)cTt>cGt	p.L396R		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	396								p.L396R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						ATGGGGAAACTTAAGGAGAAG	0.323																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											84.0	81.0	82.0					8																	88365898		1814	4073	5887	-	-	-	SO:0001583	missense	0			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1187T>G	8.37:g.88365898T>G	ENSP00000430073:p.Leu396Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.L396R	ENST00000518476.1	37	c.1187	CCDS55259.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.20|12.20	1.865846|1.865846	0.32977|0.32977	.|.	.|.	ENSG00000176571|ENSG00000176571	ENST00000518476|ENST00000523299;ENST00000521593	D|D;D	0.94966|0.94046	-3.57|-3.34;-3.34	4.98|4.98	4.98|4.98	0.66077|0.66077	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);|.	0.000000|0.000000	0.42964|0.42964	D|D	0.000627|0.000627	D|D	0.93884|0.93884	0.8043|0.8043	M|M	0.66939|0.66939	2.045|2.045	0.09310|0.09310	N|N	0.999992|0.999992	D|.	0.89917|.	1.0|.	D|.	0.75020|.	0.985|.	D|D	0.89347|0.89347	0.3658|0.3658	10|8	0.87932|0.72032	D|D	0|0.01	-15.9692|-15.9692	11.1056|11.1056	0.48201|0.48201	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	396|.	Q8NA66|.	CNBD1_HUMAN|.	R|V	396|88;33	ENSP00000430073:L396R|ENSP00000430986:L88V;ENSP00000427742:L33V	ENSP00000430073:L396R|ENSP00000427742:L33V	L|L	+|+	2|1	0|2	CNBD1|CNBD1	88435014|88435014	0.353000|0.353000	0.24904|0.24904	0.063000|0.063000	0.19743|0.19743	0.162000|0.162000	0.22319|0.22319	3.947000|3.947000	0.56652|0.56652	1.880000|1.880000	0.54463|0.54463	0.454000|0.454000	0.30748|0.30748	CTT|TTA	CNBD1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	ENSG00000176571		0.323	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNBD1	HGNC	protein_coding	OTTHUMT00000375113.2	60	0.00	0	T	NM_173538		88365898	88365898	+1	no_errors	ENST00000518476	ensembl	human	known	69_37n	missense	58	10.77	7	SNP	0.229	G
CNPY3	10695	genome.wustl.edu	37	6	42905863	42905863	+	Silent	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:42905863C>A	ENST00000372836.4	+	5	902	c.531C>A	c.(529-531)atC>atA	p.I177I	RP3-475N16.1_ENST00000450671.1_RNA|CNPY3_ENST00000394142.3_3'UTR	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	177	Saposin B-type.				innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			AGGAGGTGATCGAGGACTGGT	0.517																																						dbGAP											0													163.0	138.0	146.0					6																	42905863		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"""Trinucleotide (CAG) repeat containing"""	11968	protein-coding gene	gene with protein product		610774	"""trinucleotide repeat containing 5"", ""canopy 3 homolog (zebrafish)"""	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.531C>A	6.37:g.42905863C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	Silent	SNP	pfam_DUF3456	p.I177	ENST00000372836.4	37	c.531	CCDS4875.1	6																																																																																			CNPY3	-	pfam_DUF3456	ENSG00000137161		0.517	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNPY3	HGNC	protein_coding	OTTHUMT00000040564.1	41	0.00	0	C	NM_006586		42905863	42905863	+1	no_errors	ENST00000372836	ensembl	human	known	69_37n	silent	56	21.13	15	SNP	0.997	A
CNTFR	1271	genome.wustl.edu	37	9	34568931	34568931	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:34568931C>T	ENST00000378980.3	-	3	342	c.49G>A	c.(49-51)Gcc>Acc	p.A17T	CNTFR-AS1_ENST00000436360.1_RNA|CNTFR_ENST00000351266.4_Missense_Mutation_p.A17T|CNTFR-AS1_ENST00000453642.1_RNA|CNTFR-AS1_ENST00000438244.1_RNA|CNTFR-AS1_ENST00000454187.1_RNA	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	17					brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		ACAACTGCGGCGGCGGCGGCA	0.672																																						dbGAP											0													21.0	23.0	23.0					9																	34568931		2200	4296	6496	-	-	-	SO:0001583	missense	0			M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.49G>A	9.37:g.34568931C>T	ENSP00000368265:p.Ala17Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5U050	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A17T	ENST00000378980.3	37	c.49	CCDS6558.1	9	.	.	.	.	.	.	.	.	.	.	C	4.154	0.026958	0.08054	.	.	ENSG00000122756	ENST00000378980;ENST00000351266;ENST00000417345	T;T;T	0.27890	1.64;1.64;1.64	4.83	2.99	0.34606	.	0.242590	0.26677	N	0.023077	T	0.16685	0.0401	L	0.27053	0.805	0.25979	N	0.982392	B	0.17465	0.022	B	0.04013	0.001	T	0.24657	-1.0154	9	0.10111	T	0.7	.	7.4132	0.27029	0.0:0.804:0.0:0.196	.	17	P26992	CNTFR_HUMAN	T	17	ENSP00000368265:A17T;ENSP00000242338:A17T;ENSP00000388082:A17T	ENSP00000242338:A17T	A	-	1	0	CNTFR	34558931	0.026000	0.19158	0.424000	0.26647	0.504000	0.33889	0.923000	0.28757	0.639000	0.30564	0.655000	0.94253	GCC	CNTFR	-	NULL	ENSG00000122756		0.672	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNTFR	HGNC	protein_coding	OTTHUMT00000052176.1	116	0.00	0	C			34568931	34568931	-1	no_errors	ENST00000351266	ensembl	human	known	69_37n	missense	98	22.22	28	SNP	0.328	T
COASY	80347	genome.wustl.edu	37	17	40714751	40714751	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:40714751C>T	ENST00000393818.2	+	1	567	c.111C>T	c.(109-111)ctC>ctT	p.L37L	COASY_ENST00000420359.1_Silent_p.L37L|COASY_ENST00000421097.2_Silent_p.L37L|COASY_ENST00000449624.1_Intron|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000590958.1_Silent_p.L66L	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	37					cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)	p.Y38fs*26(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		ATCACACACTCTATGTTCACC	0.667																																						dbGAP											1	Insertion - Frameshift(1)	breast(1)											37.0	45.0	42.0					17																	40714751		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.111C>T	17.37:g.40714751C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Silent	SNP	pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase	p.L66	ENST00000393818.2	37	c.198	CCDS11429.1	17																																																																																			COASY	-	NULL	ENSG00000068120		0.667	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	COASY	HGNC	protein_coding	OTTHUMT00000450409.1	75	0.00	0	C	NM_025233		40714751	40714751	+1	no_errors	ENST00000590958	ensembl	human	known	69_37n	silent	60	28.57	24	SNP	0.915	T
COG1	9382	genome.wustl.edu	37	17	71197491	71197491	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:71197491G>C	ENST00000299886.4	+	7	1605	c.1525G>C	c.(1525-1527)Gcc>Ccc	p.A509P		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	509					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GAAAGCACAAGCCATCAGCCC	0.542																																						dbGAP											0													122.0	123.0	123.0					17																	71197491		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.1525G>C	17.37:g.71197491G>C	ENSP00000299886:p.Ala509Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NPV9|Q9P2G6	Missense_Mutation	SNP	pfam_Vps51	p.A509P	ENST00000299886.4	37	c.1525	CCDS11692.1	17	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535265	0.45176	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.30981	1.51;1.52	5.81	3.72	0.42706	.	0.049452	0.85682	D	0.000000	T	0.38241	0.1033	L	0.58810	1.83	0.80722	D	1	D;D;D	0.62365	0.991;0.963;0.991	P;P;P	0.51415	0.669;0.669;0.669	T	0.18777	-1.0326	10	0.42905	T	0.14	-18.427	11.2133	0.48813	0.0686:0.1278:0.8036:0.0	.	509;509;509	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	P	509	ENSP00000400111:A509P;ENSP00000299886:A509P	ENSP00000299886:A509P	A	+	1	0	COG1	68709086	1.000000	0.71417	0.106000	0.21319	0.953000	0.61014	6.154000	0.71826	1.465000	0.48006	0.655000	0.94253	GCC	COG1	-	NULL	ENSG00000166685		0.542	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG1	HGNC	protein_coding	OTTHUMT00000441638.1	55	0.00	0	G			71197491	71197491	+1	no_errors	ENST00000299886	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	0.998	C
COG2	22796	genome.wustl.edu	37	1	230804672	230804672	+	Intron	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:230804672G>A	ENST00000366669.4	+	6	709				COG2_ENST00000366668.3_Intron|COG2_ENST00000535166.1_Intron|COG2_ENST00000534989.1_Intron	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2						Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTGGGCGCCAGCTTCCTAAGT	0.313																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.594+142G>A	1.37:g.230804672G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86U99	Splice_Site	SNP	-	NULL	ENST00000366669.4	37	c.NULL	CCDS1584.1	1																																																																																			COG2	-	-	ENSG00000135775		0.313	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COG2	HGNC	protein_coding	OTTHUMT00000092087.1	10	0.00	0	G	NM_007357		230804672	230804672	+1	no_errors	ENST00000494371	ensembl	human	known	69_37n	splice_site	2	71.43	5	SNP	0.002	A
COL28A1	340267	genome.wustl.edu	37	7	7410430	7410430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:7410430G>A	ENST00000399429.3	-	33	3132	c.2992C>T	c.(2992-2994)Caa>Taa	p.Q998*		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	998					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AATCCAGGTTGAGGTGACGAT	0.363																																						dbGAP											0													117.0	105.0	109.0					7																	7410430		1833	4084	5917	-	-	-	SO:0001587	stop_gained	0			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2992C>T	7.37:g.7410430G>A	ENSP00000382356:p.Gln998*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Nonsense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m	p.Q998*	ENST00000399429.3	37	c.2992	CCDS43553.1	7	.	.	.	.	.	.	.	.	.	.	G	20.4	3.975951	0.74360	.	.	ENSG00000215018	ENST00000399429	.	.	.	4.38	3.49	0.39957	.	0.225325	0.27451	U	0.019313	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-0.6129	10.3639	0.44012	0.0:0.1995:0.8005:0.0	.	.	.	.	X	998	.	ENSP00000382356:Q998X	Q	-	1	0	COL28A1	7376955	0.979000	0.34478	0.537000	0.28052	0.066000	0.16364	1.637000	0.37155	1.167000	0.42706	0.655000	0.94253	CAA	COL28A1	-	NULL	ENSG00000215018		0.363	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL28A1	HGNC	protein_coding	OTTHUMT00000315899.1	37	0.00	0	G	NM_001037763		7410430	7410430	-1	no_errors	ENST00000399429	ensembl	human	known	69_37n	nonsense	41	14.58	7	SNP	0.621	A
COL6A3	1293	genome.wustl.edu	37	2	238290024	238290024	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:238290024G>A	ENST00000295550.4	-	5	1883	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	COL6A3_ENST00000346358.4_Silent_p.I477I|COL6A3_ENST00000353578.4_Silent_p.I271I|COL6A3_ENST00000392004.3_Silent_p.I271I|COL6A3_ENST00000392003.2_Silent_p.I70I|COL6A3_ENST00000409809.1_Silent_p.I271I|COL6A3_ENST00000472056.1_Silent_p.I70I|COL6A3_ENST00000347401.3_Silent_p.I276I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	477	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GATCCTGTCCGATTTCCAGCC	0.488																																						dbGAP											0													62.0	63.0	63.0					2																	238290024		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1431C>T	2.37:g.238290024G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.I477	ENST00000295550.4	37	c.1431	CCDS33412.1	2																																																																																			COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.488	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	41	0.00	0	G	NM_004369		238290024	238290024	-1	no_errors	ENST00000295550	ensembl	human	known	69_37n	silent	34	17.07	7	SNP	0.987	A
COL6A4P1	344875	genome.wustl.edu	37	3	15211962	15211962	+	RNA	SNP	G	G	A	rs570647386		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:15211962G>A	ENST00000446690.2	-	0	1563					NR_027927.1				collagen, type VI, alpha 4 pseudogene 1																		GTATCAGGACGAATGTTTAGA	0.408													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16038	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-			0			AB299979		3p25.1	2013-01-16	2010-05-24	2010-05-24	ENSG00000230524	ENSG00000230524		"""Collagens"""	33484	pseudogene	pseudogene	"""von Willebrand factor A domain containing 6"", ""collagen, type VI, alpha 4"", ""collagen, type VI, alpha 4, pseudogene"""	612397	"""dual von Willebrand factor A domains"""	DVWA		19507504, 19486942	Standard	NR_027927		Approved	VWA6, DIVA, COL6A4, COL6A4P	uc011avo.1		OTTHUMG00000154983		3.37:g.15211962G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000446690.2	37	NULL		3																																																																																			COL6A4P1	-	-	ENSG00000230524		0.408	COL6A4P1-002	KNOWN	basic	processed_transcript	COL6A4P1	HGNC	pseudogene	OTTHUMT00000337912.1	54	0.00	0	G	NR_027927		15211962	15211962	-1	no_errors	ENST00000446690	ensembl	human	known	69_37n	rna	51	15.00	9	SNP	0.014	A
CORO2B	10391	genome.wustl.edu	37	15	69003908	69003908	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr15:69003908G>A	ENST00000566799.1	+	5	540	c.511G>A	c.(511-513)Gag>Aag	p.E171K	CORO2B_ENST00000543950.1_Missense_Mutation_p.E166K|CORO2B_ENST00000540068.1_Missense_Mutation_p.E166K|CORO2B_ENST00000261861.5_Missense_Mutation_p.E166K			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	171					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GGATGTGGGTGAGCCGGTGAA	0.592																																						dbGAP											0													116.0	83.0	94.0					15																	69003908		2200	4298	6498	-	-	-	SO:0001583	missense	0			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.511G>A	15.37:g.69003908G>A	ENSP00000454783:p.Glu171Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E171K	ENST00000566799.1	37	c.511	CCDS10229.2	15	.	.	.	.	.	.	.	.	.	.	G	35	5.561905	0.96527	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.59906	0.23;0.23	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.148177	0.64402	D	0.000010	T	0.64832	0.2634	L	0.33293	1	0.80722	D	1	P	0.41848	0.763	P	0.54431	0.752	T	0.65768	-0.6088	10	0.66056	D	0.02	-37.8871	18.7684	0.91881	0.0:0.0:1.0:0.0	.	171	Q9UQ03	COR2B_HUMAN	K	171;166;166	ENSP00000446250:E166K;ENSP00000443819:E166K	ENSP00000261861:E171K	E	+	1	0	CORO2B	66790962	1.000000	0.71417	0.959000	0.39883	0.906000	0.53458	9.751000	0.98889	2.669000	0.90835	0.561000	0.74099	GAG	CORO2B	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000103647		0.592	CORO2B-203	KNOWN	basic|CCDS	protein_coding	CORO2B	HGNC	protein_coding		39	0.00	0	G	NM_006091		69003908	69003908	+1	no_errors	ENST00000566799	ensembl	human	known	69_37n	missense	37	17.78	8	SNP	1.000	A
PAM16	51025	genome.wustl.edu	37	16	4390379	4390379	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:4390379C>A	ENST00000318059.3	-	5	456	c.319G>T	c.(319-321)Gag>Tag	p.E107*	PAM16_ENST00000573553.1_Nonsense_Mutation_p.E127*|PAM16_ENST00000575848.1_Nonsense_Mutation_p.E119*|PAM16_ENST00000576217.1_Nonsense_Mutation_p.E107*|CORO7-PAM16_ENST00000572274.1_5'Flank|PAM16_ENST00000577031.1_Intron|CORO7-PAM16_ENST00000572467.1_Nonsense_Mutation_p.E1030*|PAM16_ENST00000571941.1_Nonsense_Mutation_p.E127*|RP11-295D4.1_ENST00000574705.1_RNA	NM_016069.9	NP_057153.8	Q9Y3D7	TIM16_HUMAN	presequence translocase-associated motor 16 homolog (S. cerevisiae)	107	J-like.				cellular protein metabolic process (GO:0044267)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane presequence translocase complex (GO:0005744)				lung(3)	3						TTGAGTTCCTCATCCAGGCGC	0.622																																						dbGAP											0													78.0	75.0	76.0					16																	4390379		2195	4299	6494	-	-	-	SO:0001587	stop_gained	0			AK026514	CCDS10512.1	16p13.3	2010-10-12	2010-10-12		ENSG00000217930	ENSG00000217930			29679	protein-coding gene	gene with protein product	"""mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction"""	614336				10810093, 11750097	Standard	NM_016069		Approved	Magmas, Tim16, TIMM16		Q9Y3D7	OTTHUMG00000129466	ENST00000318059.3:c.319G>T	16.37:g.4390379C>A	ENSP00000315693:p.Glu107*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6I9Z3|Q9H5X3	Nonsense_Mutation	SNP	pfam_DUF1900,pfam_Protein_transpt,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1030*	ENST00000318059.3	37	c.3088	CCDS10512.1	16	.	.	.	.	.	.	.	.	.	.	C	40	8.462857	0.98822	.	.	ENSG00000217930	ENST00000318059	.	.	.	6.07	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-33.0545	10.2152	0.43164	0.0:0.7923:0.1361:0.0716	.	.	.	.	X	107	.	ENSP00000315693:E107X	E	-	1	0	PAM16	4330380	1.000000	0.71417	0.762000	0.31397	0.952000	0.60782	5.377000	0.66184	0.888000	0.36160	0.655000	0.94253	GAG	CORO7	-	pfam_Protein_transpt	ENSG00000103426		0.622	PAM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7	HGNC	protein_coding	OTTHUMT00000251629.2	68	0.00	0	C	NM_016069		4390379	4390379	-1	no_errors	ENST00000572467	ensembl	human	known	69_37n	nonsense	90	20.35	23	SNP	0.992	A
CPA1	1357	genome.wustl.edu	37	7	130021575	130021575	+	Silent	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:130021575C>A	ENST00000011292.3	+	3	402	c.252C>A	c.(250-252)atC>atA	p.I84I	CPA1_ENST00000484324.1_5'UTR	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	84					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CCCACGGCATCAGCTATGAGA	0.637											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													73.0	61.0	65.0					7																	130021575		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.252C>A	7.37:g.130021575C>A		Somatic	1576	WXS	Illumina GAIIx	Phase_IV	A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.I84	ENST00000011292.3	37	c.252	CCDS5820.1	7																																																																																			CPA1	-	pfam_Prot_inh_M14A,superfamily_Prot_inh_propept	ENSG00000091704		0.637	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA1	HGNC	protein_coding	OTTHUMT00000349736.2	52	0.00	0	C	NM_001868		130021575	130021575	+1	no_errors	ENST00000011292	ensembl	human	known	69_37n	silent	54	12.90	8	SNP	0.025	A
CPD	1362	genome.wustl.edu	37	17	28791716	28791716	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:28791716G>A	ENST00000225719.4	+	21	4103	c.4027G>A	c.(4027-4029)Gag>Aag	p.E1343K	CPD_ENST00000543464.2_Missense_Mutation_p.E1096K	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1343						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GCATCATGATGAGTATGAAGA	0.443																																						dbGAP											0													192.0	173.0	179.0					17																	28791716		2203	4300	6503	-	-	-	SO:0001583	missense	0			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.4027G>A	17.37:g.28791716G>A	ENSP00000225719:p.Glu1343Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.E1343K	ENST00000225719.4	37	c.4027	CCDS11257.1	17	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691350	0.68271	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.27720	1.65;2.78	5.63	5.63	0.86233	.	0.328024	0.30483	N	0.009537	T	0.23806	0.0576	N	0.19112	0.55	0.58432	D	0.999996	B;B	0.31383	0.096;0.321	B;B	0.26770	0.033;0.073	T	0.05869	-1.0859	10	0.72032	D	0.01	-0.7277	18.6776	0.91534	0.0:0.0:1.0:0.0	.	1096;1343	F5GZH6;O75976	.;CBPD_HUMAN	K	1343;1096	ENSP00000225719:E1343K;ENSP00000444443:E1096K	ENSP00000225719:E1343K	E	+	1	0	CPD	25815842	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.966000	0.93397	2.626000	0.88956	0.655000	0.94253	GAG	CPD	-	NULL	ENSG00000108582		0.443	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPD	HGNC	protein_coding	OTTHUMT00000256214.3	25	0.00	0	G	NM_001304		28791716	28791716	+1	no_errors	ENST00000225719	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	0.999	A
CPSF1	29894	genome.wustl.edu	37	8	145624842	145624842	+	Splice_Site	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:145624842C>T	ENST00000349769.3	-	13	1388	c.1294G>A	c.(1294-1296)Gct>Act	p.A432T	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	432					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CGGCCCTCACCTGACCAGCCG	0.662																																					NSCLC(133;1088 1848 27708 34777 35269)	dbGAP											0													27.0	25.0	26.0					8																	145624842		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1294+1G>A	8.37:g.145624842C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.A432T	ENST00000349769.3	37	c.1294	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	C	9.921	1.212288	0.22289	.	.	ENSG00000071894	ENST00000349769	T	0.44083	0.93	5.73	4.83	0.62350	.	0.481288	0.19512	N	0.112489	T	0.33673	0.0871	L	0.32530	0.975	0.35299	D	0.782835	B	0.17465	0.022	B	0.23852	0.049	T	0.34800	-0.9814	9	.	.	.	-10.4674	13.6371	0.62229	0.1562:0.8438:0.0:0.0	.	432	Q10570	CPSF1_HUMAN	T	432	ENSP00000339353:A432T	.	A	-	1	0	CPSF1	145595650	1.000000	0.71417	0.999000	0.59377	0.421000	0.31385	6.598000	0.74122	1.379000	0.46325	0.407000	0.27541	GCT	CPSF1	-	NULL	ENSG00000071894		0.662	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	45	0.00	0	C	NM_013291	Missense_Mutation	145624842	145624842	-1	no_errors	ENST00000349769	ensembl	human	known	69_37n	missense	77	20.62	20	SNP	1.000	T
CR2	1380	genome.wustl.edu	37	1	207648450	207648450	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:207648450G>C	ENST00000367058.3	+	13	2617	c.2428G>C	c.(2428-2430)Gac>Cac	p.D810H	CR2_ENST00000367057.3_Missense_Mutation_p.D869H|CR2_ENST00000458541.2_Missense_Mutation_p.D783H|CR2_ENST00000367059.3_Missense_Mutation_p.D810H	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	810	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTCCCACAATGACATAGTGTA	0.463																																						dbGAP											0													176.0	155.0	162.0					1																	207648450		2203	4300	6503	-	-	-	SO:0001583	missense	0			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2428G>C	1.37:g.207648450G>C	ENSP00000356025:p.Asp810His	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.D869H	ENST00000367058.3	37	c.2605	CCDS1478.1	1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222878	0.39300	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	4.7	3.78	0.43462	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.79088	0.4387	M	0.76938	2.355	0.25727	N	0.985312	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.74348	0.982;0.978;0.983	T	0.66905	-0.5805	9	0.44086	T	0.13	.	9.0287	0.36245	0.1048:0.0:0.8952:0.0	.	810;810;869	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	H	810;869;810;783	ENSP00000356025:D810H;ENSP00000356024:D869H;ENSP00000356026:D810H;ENSP00000404222:D783H	ENSP00000356024:D869H	D	+	1	0	CR2	205715073	0.938000	0.31826	0.184000	0.23157	0.399000	0.30720	4.557000	0.60782	1.291000	0.44653	0.655000	0.94253	GAC	CR2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000117322		0.463	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	HGNC	protein_coding	OTTHUMT00000088274.1	51	0.00	0	G	NM_001877		207648450	207648450	+1	no_errors	ENST00000367057	ensembl	human	known	69_37n	missense	37	38.33	23	SNP	0.565	C
CREBZF	58487	genome.wustl.edu	37	11	85371453	85371453	+	IGR	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:85371453C>G	ENST00000527447.1	-	0	4037				CREBZF_ENST00000534224.1_3'UTR|CREBZF_ENST00000398294.2_3'UTR|CREBZF_ENST00000531515.1_5'UTR	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor						negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCCAGAGAATCTTTTCATATC	0.318																																					NSCLC(172;674 2044 9050 18334 41735)	dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648		11.37:g.85371453C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8Q9|Q0P5U9|Q52LT3	RNA	SNP	-	NULL	ENST00000527447.1	37	NULL	CCDS41697.1	11																																																																																			CREBZF	-	-	ENSG00000137504		0.318	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBZF	HGNC	protein_coding	OTTHUMT00000390191.2	28	0.00	0	C	NM_001039618		85371453	85371453	-1	no_errors	ENST00000531515	ensembl	human	known	69_37n	rna	37	21.28	10	SNP	1.000	G
CRELD1	78987	genome.wustl.edu	37	3	9984832	9984832	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:9984832C>G	ENST00000383811.3	+	8	1488	c.889C>G	c.(889-891)Cag>Gag	p.Q297E	CRELD1_ENST00000489674.1_3'UTR|CRELD1_ENST00000326434.5_Missense_Mutation_p.Q297E|CRELD1_ENST00000397170.3_Missense_Mutation_p.Q297E|CRELD1_ENST00000452070.1_Missense_Mutation_p.Q297E	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	297					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CCCTGGCTATCAGCAGGTGGG	0.587																																						dbGAP											0													54.0	55.0	55.0					3																	9984832		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.889C>G	3.37:g.9984832C>G	ENSP00000373322:p.Gln297Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Nonsense_Mutation	SNP	pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd	p.S59*	ENST00000383811.3	37	c.176	CCDS2593.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.21|11.21	1.570424|1.570424	0.28003|0.28003	.|.	.|.	ENSG00000163703|ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434|ENST00000435417	D;D;D;D|.	0.87179|.	-2.22;-2.22;-2.22;-2.22|.	4.67|4.67	4.67|4.67	0.58626|0.58626	Growth factor, receptor (1);|.	0.347524|.	0.30235|.	N|.	0.010087|.	T|.	0.18759|.	0.0450|.	N|N	0.05158|0.05158	-0.105|-0.105	0.28760|0.28760	N|N	0.900932|0.900932	B;P|.	0.42871|.	0.255;0.792|.	B;B|.	0.40864|.	0.038;0.342|.	T|.	0.12218|.	-1.0556|.	9|.	.|.	.|.	.|.	.|.	8.8331|8.8331	0.35096|0.35096	0.0:0.8967:0.0:0.1033|0.0:0.8967:0.0:0.1033	.|.	297;297|.	Q96HD1;Q96HD1-2|.	CREL1_HUMAN;.|.	E|X	297|59	ENSP00000380355:Q297E;ENSP00000373322:Q297E;ENSP00000393643:Q297E;ENSP00000321856:Q297E|.	.|.	Q|S	+|+	1|2	0|0	CRELD1|CRELD1	9959832|9959832	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.994000|2.994000	0.49433|0.49433	2.134000|2.134000	0.65973|0.65973	0.561000|0.561000	0.74099|0.74099	CAG|TCA	CRELD1	-	superfamily_Growth_fac_rcpt	ENSG00000163703		0.587	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRELD1	HGNC	protein_coding	OTTHUMT00000250533.1	35	0.00	0	C	NM_015513		9984832	9984832	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000435417	ensembl	human	putative	69_37n	nonsense	36	10.00	4	SNP	1.000	G
CRIPAK	285464	genome.wustl.edu	37	4	1388324	1388324	+	Missense_Mutation	SNP	A	A	C	rs74377230		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:1388324A>C	ENST00000324803.4	+	1	2985	c.25A>C	c.(25-27)Aat>Cat	p.N9H		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	9					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCTTTGTGCCAATGTGGAGTG	0.537																																						dbGAP											0													124.0	130.0	128.0					4																	1388324		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.25A>C	4.37:g.1388324A>C	ENSP00000323978:p.Asn9His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NB03	Missense_Mutation	SNP	smart_Post-SET_dom	p.N9H	ENST00000324803.4	37	c.25	CCDS3349.1	4	.	.	.	.	.	.	.	.	.	.	G	0.580	-0.837604	0.02692	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.23348	1.91	.	.	.	.	.	.	.	.	T	0.09598	0.0236	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20240	-1.0281	7	0.49607	T	0.09	.	.	.	.	.	9	Q8N1N5	CRPAK_HUMAN	H	9;2	ENSP00000323978:N9H	ENSP00000323978:N9H	N	+	1	0	CRIPAK	1378324	0.752000	0.28338	0.019000	0.16419	0.027000	0.11550	-1.046000	0.03525	-1.644000	0.01517	-1.639000	0.00775	AAT	CRIPAK	-	NULL	ENSG00000179979		0.537	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIPAK	HGNC	protein_coding	OTTHUMT00000241607.2	115	0.86	1	A	NM_175918		1388324	1388324	+1	no_errors	ENST00000324803	ensembl	human	known	69_37n	missense	210	12.13	29	SNP	0.039	C
CRNKL1	51340	genome.wustl.edu	37	20	20026011	20026011	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:20026011C>T	ENST00000377340.2	-	7	1256	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	CRNKL1_ENST00000536226.1_Missense_Mutation_p.E248K|CRNKL1_ENST00000377327.4_Missense_Mutation_p.E397K	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	409					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TCCATATGTTCATCTCCAAAG	0.383																																						dbGAP											0													173.0	172.0	172.0					20																	20026011		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1225G>A	20.37:g.20026011C>T	ENSP00000366557:p.Glu409Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.E409K	ENST00000377340.2	37	c.1225	CCDS33446.1	20	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426195	0.83667	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.09538	2.97;2.97;2.97	5.94	5.94	0.96194	Tetratricopeptide-like helical (1);	0.134780	0.64402	D	0.000002	T	0.17534	0.0421	M	0.62016	1.91	0.80722	D	1	B	0.32731	0.382	B	0.32465	0.146	T	0.00904	-1.1520	10	0.49607	T	0.09	-25.8515	20.3594	0.98849	0.0:1.0:0.0:0.0	.	409	Q9BZJ0	CRNL1_HUMAN	K	397;409;248	ENSP00000366544:E397K;ENSP00000366557:E409K;ENSP00000440733:E248K	ENSP00000366544:E397K	E	-	1	0	CRNKL1	19974011	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.816000	0.96949	0.563000	0.77884	GAA	CRNKL1	-	smart_HAT	ENSG00000101343		0.383	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	45	0.00	0	C			20026011	20026011	-1	no_errors	ENST00000377340	ensembl	human	known	69_37n	missense	31	16.22	6	SNP	1.000	T
CROCC	9696	genome.wustl.edu	37	1	17282565	17282565	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:17282565G>A	ENST00000375541.5	+	25	3847	c.3778G>A	c.(3778-3780)Gag>Aag	p.E1260K		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGTGGGCAAGGAGGCCGGGGA	0.667																																						dbGAP											0													22.0	23.0	22.0					1																	17282565		2051	4022	6073	-	-	-	SO:0001583	missense	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3778G>A	1.37:g.17282565G>A	ENSP00000364691:p.Glu1260Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.E1260K	ENST00000375541.5	37	c.3778	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905683	0.72868	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.66995	-0.24	4.38	4.38	0.52667	.	.	.	.	.	T	0.82157	0.4976	M	0.84326	2.69	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.83781	0.0225	9	0.48119	T	0.1	.	15.2293	0.73374	0.0:0.0:1.0:0.0	.	563;1260	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	K	1260;1141	ENSP00000364691:E1260K	ENSP00000364691:E1260K	E	+	1	0	CROCC	17155152	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	6.832000	0.75329	2.377000	0.81083	0.555000	0.69702	GAG	CROCC	-	NULL	ENSG00000058453		0.667	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	38	0.00	0	G	NM_014675		17282565	17282565	+1	no_errors	ENST00000375541	ensembl	human	known	69_37n	missense	33	15.38	6	SNP	1.000	A
CSDE1	7812	genome.wustl.edu	37	1	115267858	115267858	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:115267858C>T	ENST00000358528.4	-	15	2163	c.1737G>A	c.(1735-1737)gtG>gtA	p.V579V	CSDE1_ENST00000530886.1_Silent_p.V449V|CSDE1_ENST00000369530.1_Silent_p.V594V|CSDE1_ENST00000261443.5_Silent_p.V548V|CSDE1_ENST00000438362.2_Silent_p.V625V|CSDE1_ENST00000534699.1_Silent_p.V579V|Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000339438.6_Silent_p.V548V	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	579	CSD 7.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGTTTTGTTCACTTTTTCTG	0.428																																						dbGAP											0													253.0	214.0	227.0					1																	115267858		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1737G>A	1.37:g.115267858C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Silent	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot	p.V594	ENST00000358528.4	37	c.1782	CCDS30812.1	1																																																																																			CSDE1	-	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot	ENSG00000009307		0.428	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CSDE1	HGNC	protein_coding	OTTHUMT00000033397.1	66	0.00	0	C	NM_007158		115267858	115267858	-1	no_errors	ENST00000369530	ensembl	human	known	69_37n	silent	63	11.27	8	SNP	1.000	T
CSTF2T	23283	genome.wustl.edu	37	10	53458881	53458881	+	Silent	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr10:53458881C>G	ENST00000331173.4	-	1	474	c.429G>C	c.(427-429)ctG>ctC	p.L143L	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	143					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TCTGCTTCATCAGCTCAAACA	0.498																																						dbGAP											0													158.0	152.0	154.0					10																	53458881		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.429G>C	10.37:g.53458881C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L143	ENST00000331173.4	37	c.429	CCDS7245.1	10																																																																																			CSTF2T	-	NULL	ENSG00000177613		0.498	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2T	HGNC	protein_coding	OTTHUMT00000048097.1	57	0.00	0	C	NM_015235		53458881	53458881	-1	no_errors	ENST00000331173	ensembl	human	known	69_37n	silent	46	28.12	18	SNP	0.992	G
CTAGE1	64693	genome.wustl.edu	37	18	19997759	19997759	+	5'Flank	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr18:19997759G>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.H6Y			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CCATAAGGATGAGAATCGGGT	0.507																																						dbGAP											0													83.0	74.0	77.0					18																	19997759		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997759G>A	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YIZ3	Missense_Mutation	SNP	NULL	p.H6Y	ENST00000525417.1	37	c.16		18	.	.	.	.	.	.	.	.	.	.	G	2.919	-0.223713	0.06061	.	.	ENSG00000212710	ENST00000391403	T	0.41758	0.99	0.822	-1.64	0.08318	.	.	.	.	.	T	0.17408	0.0418	N	0.08118	0	0.09310	N	1	P	0.40360	0.714	B	0.38880	0.284	T	0.10132	-1.0643	8	.	.	.	.	2.4337	0.04477	0.0:0.2639:0.3045:0.4316	.	6	Q96RT6	CTGE2_HUMAN	Y	6	ENSP00000375220:H6Y	.	H	-	1	0	CTAGE1	18251757	1.000000	0.71417	0.000000	0.03702	0.007000	0.05969	0.943000	0.29030	-1.292000	0.02366	-0.856000	0.03024	CAT	CTAGE1	-	NULL	ENSG00000212710		0.507	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	CTAGE1	HGNC	protein_coding	OTTHUMT00000386767.1	46	0.00	0	G	NM_022663, NM_172241		19997759	19997759	-1	no_errors	ENST00000391403	ensembl	human	known	69_37n	missense	48	20.00	12	SNP	0.000	A
CTNNBL1	56259	genome.wustl.edu	37	20	36431299	36431299	+	Silent	SNP	G	G	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:36431299G>T	ENST00000361383.6	+	11	1179	c.1062G>T	c.(1060-1062)ctG>ctT	p.L354L	CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000405275.2_Silent_p.L327L|CTNNBL1_ENST00000373473.1_Silent_p.L167L|CTNNBL1_ENST00000373469.1_Silent_p.L102L	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	354					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GCAGTGCCCTGAAAGTGCTGG	0.433																																					Ovarian(184;582 2038 3273 4106 42608)	dbGAP											0													125.0	119.0	121.0					20																	36431299		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1062G>T	20.37:g.36431299G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Silent	SNP	pfam_DUF1716_euk,superfamily_ARM-type_fold	p.L327	ENST00000361383.6	37	c.981	CCDS13298.1	20																																																																																			CTNNBL1	-	superfamily_ARM-type_fold	ENSG00000132792		0.433	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CTNNBL1	HGNC	protein_coding	OTTHUMT00000079125.1	20	0.00	0	G	NM_030877		36431299	36431299	+1	no_errors	ENST00000405275	ensembl	human	known	69_37n	silent	18	30.77	8	SNP	1.000	T
CUBN	8029	genome.wustl.edu	37	10	16957944	16957944	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr10:16957944G>A	ENST00000377833.4	-	46	7151	c.7086C>T	c.(7084-7086)ttC>ttT	p.F2362F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2362	CUB 17. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCCACTCACAGAATAAGTTGT	0.443																																						dbGAP											0													100.0	101.0	101.0					10																	16957944		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7086C>T	10.37:g.16957944G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.F2362	ENST00000377833.4	37	c.7086	CCDS7113.1	10																																																																																			CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000107611		0.443	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	57	0.00	0	G	NM_001081		16957944	16957944	-1	no_errors	ENST00000377833	ensembl	human	known	69_37n	silent	86	14.85	15	SNP	0.081	A
CUL3	8452	genome.wustl.edu	37	2	225346783	225346783	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:225346783C>G	ENST00000264414.4	-	14	2193	c.1855G>C	c.(1855-1857)Gag>Cag	p.E619Q	CUL3_ENST00000409096.1_Missense_Mutation_p.E595Q|CUL3_ENST00000409777.1_Missense_Mutation_p.E595Q|CUL3_ENST00000344951.4_Missense_Mutation_p.E553Q	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	619					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATATCTGTCTCTTGCTGAATT	0.373																																						dbGAP											0													76.0	76.0	76.0					2																	225346783		2203	4300	6503	-	-	-	SO:0001583	missense	0			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1855G>C	2.37:g.225346783C>G	ENSP00000264414:p.Glu619Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.E619Q	ENST00000264414.4	37	c.1855	CCDS2462.1	2	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150266	0.57151	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81	5.38	5.38	0.77491	Cullin, N-terminal (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin homology (2);	0.094982	0.64402	D	0.000001	T	0.69628	0.3132	N	0.20445	0.575	0.80722	D	1	P;B;P	0.39424	0.577;0.426;0.673	B;B;P	0.47206	0.273;0.422;0.541	T	0.64972	-0.6281	10	0.17832	T	0.49	.	19.1434	0.93455	0.0:1.0:0.0:0.0	.	553;597;619	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	Q	619;553;595;595	ENSP00000264414:E619Q;ENSP00000343601:E553Q;ENSP00000387200:E595Q;ENSP00000386525:E595Q	ENSP00000264414:E619Q	E	-	1	0	CUL3	225055027	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.497000	0.84241	0.655000	0.94253	GAG	CUL3	-	pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology	ENSG00000036257		0.373	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL3	HGNC	protein_coding	OTTHUMT00000256871.2	59	0.00	0	C			225346783	225346783	-1	no_errors	ENST00000264414	ensembl	human	known	69_37n	missense	38	25.49	13	SNP	1.000	G
CXCL6	6372	genome.wustl.edu	37	4	74702511	74702511	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:74702511C>T	ENST00000226317.5	+	1	298	c.44C>T	c.(43-45)tCg>tTg	p.S15L	CXCL6_ENST00000515050.1_Missense_Mutation_p.S15L	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	15					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CCGGGTCCTTCGGGCTCCTTG	0.716																																						dbGAP											0													14.0	18.0	17.0					4																	74702511		2197	4284	6481	-	-	-	SO:0001583	missense	0			U83303	CCDS3560.1	4q13.3	2013-02-25	2012-10-17	2002-08-23	ENSG00000124875	ENSG00000124875		"""Endogenous ligands"""	10643	protein-coding gene	gene with protein product	"""granulocyte chemotactic protein 2"""	138965	"""small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)"", ""chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2)"""	SCYB6		9465307	Standard	NM_002993		Approved	GCP-2, CKA-3	uc003hhf.3	P80162	OTTHUMG00000130010	ENST00000226317.5:c.44C>T	4.37:g.74702511C>T	ENSP00000226317:p.Ser15Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4X3|Q4W5D4	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC	p.S15L	ENST00000226317.5	37	c.44	CCDS3560.1	4	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689324	0.29962	.	.	ENSG00000124875	ENST00000226317;ENST00000515050	T;T	0.31247	1.92;1.5	3.94	1.08	0.20341	.	0.942534	0.08922	N	0.874268	T	0.24084	0.0583	L	0.49350	1.555	0.09310	N	1	B	0.18610	0.029	B	0.08055	0.003	T	0.31971	-0.9924	10	0.46703	T	0.11	.	2.4107	0.04423	0.1962:0.5032:0.1905:0.11	.	15	P80162	CXCL6_HUMAN	L	15	ENSP00000226317:S15L;ENSP00000424819:S15L	ENSP00000226317:S15L	S	+	2	0	CXCL6	74921375	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.041000	0.12084	0.065000	0.16485	-0.535000	0.04281	TCG	CXCL6	-	prints_Chemokine_CXCL8/IL8	ENSG00000124875		0.716	CXCL6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CXCL6	HGNC	protein_coding	OTTHUMT00000252283.2	41	0.00	0	C	NM_002993		74702511	74702511	+1	no_errors	ENST00000226317	ensembl	human	known	69_37n	missense	45	33.82	23	SNP	0.000	T
CXorf57	55086	genome.wustl.edu	37	X	105868386	105868386	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:105868386G>C	ENST00000372548.4	+	3	962	c.853G>C	c.(853-855)Gag>Cag	p.E285Q	CXorf57_ENST00000372544.2_Missense_Mutation_p.E285Q	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	285							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						CCTGTGTCCTGAGTGGTATAA	0.408																																						dbGAP											0													199.0	165.0	177.0					X																	105868386		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.853G>C	X.37:g.105868386G>C	ENSP00000361628:p.Glu285Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.E285Q	ENST00000372548.4	37	c.853	CCDS14519.1	X	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278369	0.59758	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.48836	0.8;0.8;0.87	3.99	3.09	0.35607	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.056636	0.64402	D	0.000002	T	0.51941	0.1704	L	0.60455	1.87	0.35237	D	0.777476	B;B;P	0.46142	0.291;0.291;0.873	B;B;P	0.49683	0.104;0.104;0.619	T	0.63603	-0.6600	10	0.46703	T	0.11	-7.7331	12.0156	0.53311	0.0:0.1728:0.8272:0.0	.	285;285;285	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	Q	285;285;93	ENSP00000361623:E285Q;ENSP00000361628:E285Q;ENSP00000405866:E93Q	ENSP00000361623:E285Q	E	+	1	0	CXorf57	105755042	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.322000	0.65852	0.754000	0.32968	0.594000	0.82650	GAG	CXorf57	-	superfamily_NA-bd_OB-fold-like	ENSG00000147231		0.408	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf57	HGNC	protein_coding	OTTHUMT00000057800.2	97	0.00	0	G	NM_018015		105868386	105868386	+1	no_errors	ENST00000372548	ensembl	human	known	69_37n	missense	75	20.21	19	SNP	1.000	C
CYP2C18	1562	genome.wustl.edu	37	10	96495282	96495282	+	3'UTR	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr10:96495282C>G	ENST00000285979.6	+	0	1753				CYP2C18_ENST00000339022.5_3'UTR|CYP2C19_ENST00000464755.1_Intron	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18						small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TCCCTTCTCTCTGTGAGGGAT	0.473																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.*81C>G	10.37:g.96495282C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	RNA	SNP	-	NULL	ENST00000285979.6	37	NULL	CCDS7435.1	10																																																																																			CYP2C18	-	-	ENSG00000108242		0.473	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C18	HGNC	protein_coding	OTTHUMT00000049486.1	43	0.00	0	C	NM_000772		96495282	96495282	+1	no_errors	ENST00000476630	ensembl	human	known	69_37n	rna	38	13.64	6	SNP	0.000	G
CYP4B1	1580	genome.wustl.edu	37	1	47284405	47284405	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:47284405C>G	ENST00000271153.4	+	12	1491	c.1455C>G	c.(1453-1455)atC>atG	p.I485M	CYP4B1_ENST00000371923.4_Missense_Mutation_p.I486M|CYP4B1_ENST00000452782.2_Missense_Mutation_p.I323M|CYP4B1_ENST00000371919.4_Missense_Mutation_p.I471M			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	485					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	GGCTGCCCATCAAGATGCCCC	0.572																																						dbGAP											0													141.0	124.0	129.0					1																	47284405		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1455C>G	1.37:g.47284405C>G	ENSP00000271153:p.Ile485Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.I486M	ENST00000271153.4	37	c.1458	CCDS542.1	1	.	.	.	.	.	.	.	.	.	.	C	4.337	0.061947	0.08339	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.8	4.88	0.63580	.	0.631874	0.17484	N	0.172581	T	0.56963	0.2021	L	0.38838	1.175	0.23913	N	0.996488	B;B;B	0.30511	0.282;0.064;0.079	B;B;B	0.39935	0.257;0.209;0.314	T	0.50363	-0.8837	9	.	.	.	.	4.0038	0.09592	0.1334:0.5915:0.129:0.146	.	471;486;485	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	M	486;485;471;323	ENSP00000360991:I486M;ENSP00000271153:I485M;ENSP00000360987:I471M;ENSP00000400413:I323M	.	I	+	3	3	CYP4B1	47056992	0.000000	0.05858	0.850000	0.33497	0.039000	0.13416	-0.048000	0.11944	1.438000	0.47492	0.655000	0.94253	ATC	CYP4B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000142973		0.572	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4B1	HGNC	protein_coding	OTTHUMT00000021911.1	23	0.00	0	C	NM_000779		47284405	47284405	+1	no_errors	ENST00000371923	ensembl	human	known	69_37n	missense	42	19.23	10	SNP	0.247	G
CYP4F8	11283	genome.wustl.edu	37	19	15730300	15730300	+	RNA	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:15730300G>C	ENST00000441682.2	+	0	407							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						ATTCATGTCAGATGCCATTAC	0.532																																						dbGAP											0													60.0	62.0	61.0					19																	15730300		2149	4262	6411	-	-	-			0			AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15730300G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	NULL	ENST00000441682.2	37	c.NULL		19	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238074	0.39598	.	.	ENSG00000186526	ENST00000441682	.	.	.	3.05	3.05	0.35203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9057	0.52711	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP4F8	15591300	1.000000	0.71417	0.390000	0.26220	0.211000	0.24417	6.552000	0.73914	1.721000	0.51461	0.411000	0.27672	.	CYP4F8	-	-	ENSG00000186526		0.532	CYP4F8-201	KNOWN	basic	processed_transcript	CYP4F8	HGNC	processed_transcript		67	0.00	0	G	NM_007253		15730300	15730300	+1	no_errors	ENST00000441682	ensembl	human	known	69_37n	splice_site	70	20.88	19	SNP	1.000	C
DALRD3	55152	genome.wustl.edu	37	3	49055212	49055212	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:49055212C>G	ENST00000341949.4	-	3	558	c.552G>C	c.(550-552)gaG>gaC	p.E184D	MIR191_ENST00000384873.1_RNA|DALRD3_ENST00000496568.1_5'UTR|DALRD3_ENST00000395462.4_Missense_Mutation_p.E17D|DALRD3_ENST00000440857.1_Missense_Mutation_p.E17D|DALRD3_ENST00000313778.5_Missense_Mutation_p.E17D|DALRD3_ENST00000441576.2_Missense_Mutation_p.E184D|MIR425_ENST00000362162.1_RNA|NDUFAF3_ENST00000326912.4_5'Flank	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	184					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGGAAGCTCTCTCCGAGGCAG	0.632																																						dbGAP											0													48.0	38.0	42.0					3																	49055212		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.552G>C	3.37:g.49055212C>G	ENSP00000344989:p.Glu184Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Missense_Mutation	SNP	pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd	p.E184D	ENST00000341949.4	37	c.552	CCDS33754.1	3	.	.	.	.	.	.	.	.	.	.	c	14.65	2.600250	0.46423	.	.	ENSG00000178149	ENST00000441576;ENST00000341949;ENST00000395462;ENST00000440857;ENST00000313778;ENST00000420952	T;T;T;T;T;T	0.48522	0.81;0.84;0.86;0.81;0.86;0.85	5.06	1.05	0.20165	.	0.808113	0.11143	N	0.595039	T	0.36663	0.0975	L	0.50333	1.59	0.09310	N	1	B;P;B;B	0.37276	0.091;0.589;0.091;0.363	B;B;B;B	0.35770	0.027;0.21;0.027;0.05	T	0.25047	-1.0143	10	0.49607	T	0.09	-1.729	3.9531	0.09377	0.2492:0.4623:0.0:0.2885	.	184;17;184;184	B7Z727;C9JJG6;Q5D0E6-2;Q5D0E6	.;.;.;DALD3_HUMAN	D	184;184;17;17;17;149	ENSP00000410623:E184D;ENSP00000344989:E184D;ENSP00000378846:E17D;ENSP00000403770:E17D;ENSP00000323265:E17D;ENSP00000397385:E149D	ENSP00000323265:E17D	E	-	3	2	DALRD3	49030216	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	0.075000	0.14686	0.180000	0.19960	0.651000	0.88453	GAG	DALRD3	-	NULL	ENSG00000178149		0.632	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DALRD3	HGNC	protein_coding	OTTHUMT00000345581.1	86	0.00	0	C	NM_018114		49055212	49055212	-1	no_errors	ENST00000341949	ensembl	human	known	69_37n	missense	60	16.44	12	SNP	0.000	G
DARS	1615	genome.wustl.edu	37	2	136700965	136700965	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:136700965C>G	ENST00000264161.4	-	5	621	c.406G>C	c.(406-408)Gag>Cag	p.E136Q	DARS_ENST00000463008.1_5'UTR|DARS_ENST00000537273.1_Missense_Mutation_p.E36Q	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	136					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.E136Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ACATGTAACTCAACGTCTTGC	0.323																																						dbGAP											1	Substitution - Missense(1)	lung(1)											187.0	180.0	182.0					2																	136700965		2203	4299	6502	-	-	-	SO:0001583	missense	0			J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.406G>C	2.37:g.136700965C>G	ENSP00000264161:p.Glu136Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Missense_Mutation	SNP	pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asp-tRNA-synth_arc/euk	p.E136Q	ENST00000264161.4	37	c.406	CCDS2180.1	2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636648	0.87760	.	.	ENSG00000115866	ENST00000264161;ENST00000537273;ENST00000441323;ENST00000456565;ENST00000449218	T;D;T;T;T	0.84800	1.53;-1.9;1.53;1.53;1.53	4.9	4.9	0.64082	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.090300	0.85682	D	0.000000	D	0.94899	0.8351	H	0.98199	4.17	0.80722	D	1	D	0.61697	0.99	P	0.60286	0.872	D	0.96691	0.9511	10	0.87932	D	0	-14.7068	18.2156	0.89884	0.0:1.0:0.0:0.0	.	136	P14868	SYDC_HUMAN	Q	136;36;103;103;103	ENSP00000264161:E136Q;ENSP00000444192:E36Q;ENSP00000389867:E103Q;ENSP00000397616:E103Q;ENSP00000388801:E103Q	ENSP00000264161:E136Q	E	-	1	0	DARS	136417435	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.427000	0.80284	2.700000	0.92200	0.563000	0.77884	GAG	DARS	-	pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,tigrfam_Asp-tRNA-synth_arc/euk	ENSG00000115866		0.323	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DARS	HGNC	protein_coding	OTTHUMT00000254660.5	45	0.00	0	C	NM_001349		136700965	136700965	-1	no_errors	ENST00000264161	ensembl	human	known	69_37n	missense	47	26.56	17	SNP	1.000	G
DCAF12L1	139170	genome.wustl.edu	37	X	125685957	125685957	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:125685957G>A	ENST00000371126.1	-	1	877	c.635C>T	c.(634-636)tCc>tTc	p.S212F		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	212										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCCGTCGCGGGAGCCGCTCAC	0.657																																						dbGAP											0													33.0	35.0	35.0					X																	125685957		2199	4288	6487	-	-	-	SO:0001583	missense	0			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.635C>T	X.37:g.125685957G>A	ENSP00000360167:p.Ser212Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYK3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S212F	ENST00000371126.1	37	c.635	CCDS14610.1	X	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126574	0.56721	.	.	ENSG00000198889	ENST00000371126	T	0.74526	-0.85	3.89	3.02	0.34903	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.32624	N	0.005848	D	0.85080	0.5615	M	0.85945	2.785	0.38864	D	0.956546	D	0.89917	1.0	D	0.91635	0.999	D	0.86285	0.1670	10	0.87932	D	0	.	8.9373	0.35708	0.1153:0.0:0.8847:0.0	.	212	Q5VU92	DC121_HUMAN	F	212	ENSP00000360167:S212F	ENSP00000360167:S212F	S	-	2	0	DCAF12L1	125513638	1.000000	0.71417	0.060000	0.19600	0.531000	0.34715	6.184000	0.72008	1.008000	0.39264	0.429000	0.28392	TCC	DCAF12L1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000198889		0.657	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L1	HGNC	protein_coding	OTTHUMT00000058186.1	111	0.00	0	G	NM_178470		125685957	125685957	-1	no_errors	ENST00000371126	ensembl	human	known	69_37n	missense	159	10.61	19	SNP	0.977	A
DCBLD1	285761	genome.wustl.edu	37	6	117869086	117869086	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:117869086C>T	ENST00000338728.5	+	15	1752	c.1632C>T	c.(1630-1632)ctC>ctT	p.L544L	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Intron|DCBLD1_ENST00000534777.1_3'UTR|DCBLD1_ENST00000368503.4_Silent_p.L345L			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	544					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		AGCAGCCCCTCATGATTGGCA	0.642																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.1632C>T	6.37:g.117869086C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_LCCL,pfam_CUB,superfamily_Galactose-bd-like,superfamily_LCCL,superfamily_CUB,smart_CUB,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL	p.L544	ENST00000338728.5	37	c.1632		6																																																																																			DCBLD1	-	NULL	ENSG00000164465		0.642	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	DCBLD1	HGNC	protein_coding	OTTHUMT00000041979.2	28	0.00	0	C	NM_173674		117869086	117869086	+1	no_errors	ENST00000338728	ensembl	human	known	69_37n	silent	36	26.53	13	SNP	1.000	T
DCHS1	8642	genome.wustl.edu	37	11	6651433	6651433	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:6651433G>A	ENST00000299441.3	-	10	5003	c.4592C>T	c.(4591-4593)tCa>tTa	p.S1531L	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1531	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACGCGCGCTGAAACGCGCGC	0.731																																						dbGAP											0													5.0	5.0	5.0					11																	6651433		2056	4062	6118	-	-	-	SO:0001583	missense	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.4592C>T	11.37:g.6651433G>A	ENSP00000299441:p.Ser1531Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S1531L	ENST00000299441.3	37	c.4592	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035047	0.93575	.	.	ENSG00000166341	ENST00000299441	T	0.51071	0.72	5.16	5.16	0.70880	Cadherin (4);Cadherin-like (1);	0.000000	0.42682	D	0.000663	T	0.41282	0.1152	N	0.25201	0.72	0.47737	D	0.999501	P	0.48162	0.906	P	0.46659	0.523	T	0.11084	-1.0602	10	0.21540	T	0.41	.	17.8153	0.88630	0.0:0.0:1.0:0.0	.	1531	Q96JQ0	PCD16_HUMAN	L	1531	ENSP00000299441:S1531L	ENSP00000299441:S1531L	S	-	2	0	DCHS1	6608009	1.000000	0.71417	0.641000	0.29422	0.847000	0.48162	6.129000	0.71657	2.685000	0.91497	0.400000	0.26472	TCA	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000166341		0.731	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	26	0.00	0	G	NM_003737		6651433	6651433	-1	no_errors	ENST00000299441	ensembl	human	known	69_37n	missense	24	20.00	6	SNP	0.956	A
DCLK1	9201	genome.wustl.edu	37	13	36410237	36410237	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr13:36410237C>G	ENST00000360631.3	-	8	1373	c.1162G>C	c.(1162-1164)Gaa>Caa	p.E388Q	DCLK1_ENST00000379893.1_Missense_Mutation_p.E81Q|DCLK1_ENST00000255448.4_Missense_Mutation_p.E388Q			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	388					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)		TTATATCGTTCTGTTATTGTA	0.368																																						dbGAP											0													249.0	234.0	239.0					13																	36410237		2203	4300	6503	-	-	-	SO:0001583	missense	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.1162G>C	13.37:g.36410237C>G	ENSP00000353846:p.Glu388Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	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.E388Q	ENST00000360631.3	37	c.1162		13	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122553	0.56613	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451	T;T;T	0.41758	0.99;0.99;0.99	6.04	6.04	0.98038	.	0.062950	0.64402	D	0.000001	T	0.46795	0.1411	L	0.55743	1.74	0.80722	D	1	B;B;B	0.23735	0.09;0.065;0.051	B;B;B	0.31245	0.06;0.126;0.06	T	0.24440	-1.0160	10	0.33141	T	0.24	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	81;388;81	O15075-4;O15075-2;O15075-3	.;.;.	Q	80;388;388;81;388	ENSP00000255448:E388Q;ENSP00000353846:E388Q;ENSP00000369223:E81Q	ENSP00000255448:E388Q	E	-	1	0	DCLK1	35308237	1.000000	0.71417	0.995000	0.50966	0.919000	0.55068	7.234000	0.78134	2.873000	0.98535	0.563000	0.77884	GAA	DCLK1	-	superfamily_Kinase-like_dom	ENSG00000133083		0.368	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1	72	0.00	0	C	NM_004734		36410237	36410237	-1	no_errors	ENST00000360631	ensembl	human	known	69_37n	missense	61	27.38	23	SNP	1.000	G
RPP25L	138716	genome.wustl.edu	37	9	34614690	34614690	+	5'Flank	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:34614690C>T	ENST00000297613.4	-	0	0				RPP25L_ENST00000378959.4_5'Flank|DCTN3_ENST00000378913.2_Silent_p.*143*|DCTN3_ENST00000378916.4_Intron|DCTN3_ENST00000477738.2_Intron|DCTN3_ENST00000447983.2_Intron|DCTN3_ENST00000341694.2_Intron|DCTN3_ENST00000259632.7_Intron|DCTN3_ENST00000479399.1_5'UTR	NM_148179.2	NP_680545.1	Q8N5L8	RP25L_HUMAN	ribonuclease P/MRP 25kDa subunit-like							nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CGCTTCTAGTCATCTCCCCTC	0.557																																						dbGAP											0													132.0	108.0	116.0					9																	34614690		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			BC032136	CCDS6559.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164967	ENSG00000164967			19909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 23"""	C9orf23		16998185	Standard	NM_148178		Approved	bA296L22.5, MGC29635	uc003zuv.3	Q8N5L8	OTTHUMG00000000443		9.37:g.34614690C>T	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRM5	RNA	SNP	-	NULL	ENST00000297613.4	37	NULL	CCDS6559.1	9																																																																																			DCTN3	-	-	ENSG00000137100		0.557	RPP25L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCTN3	HGNC	protein_coding	OTTHUMT00000001130.1	33	0.00	0	C	NM_148179		34614690	34614690	-1	no_errors	ENST00000479399	ensembl	human	known	69_37n	rna	26	29.73	11	SNP	0.003	T
DCX	1641	genome.wustl.edu	37	X	110574018	110574018	+	Intron	SNP	A	A	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:110574018A>T	ENST00000338081.3	-	5	1346				DCX_ENST00000356220.3_Intron|DCX_ENST00000371993.2_Intron|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Intron|DCX_ENST00000488120.1_Intron	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin						axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AATTGATAGAATAGGGTTTCA	0.433																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.1174+128T>A	X.37:g.110574018A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	RNA	SNP	-	NULL	ENST00000338081.3	37	NULL	CCDS14556.1	X																																																																																			DCX	-	-	ENSG00000077279		0.433	DCX-006	KNOWN	basic|CCDS	protein_coding	DCX	HGNC	protein_coding	OTTHUMT00000357058.1	49	0.00	0	A	NM_178153		110574018	110574018	-1	no_errors	ENST00000496551	ensembl	human	known	69_37n	rna	49	19.67	12	SNP	0.001	T
DDAH1	23576	genome.wustl.edu	37	1	85784437	85784437	+	3'UTR	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:85784437C>G	ENST00000284031.8	-	0	3650				RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000539042.1_3'UTR|DDAH1_ENST00000483110.1_5'UTR|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000535924.2_3'UTR	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1						arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	ACATGCAACTCTTTACCTTAC	0.343																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.*2698G>C	1.37:g.85784437C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HYC8|Q86XK5	RNA	SNP	-	NULL	ENST00000284031.8	37	NULL	CCDS705.1	1																																																																																			DDAH1	-	-	ENSG00000153904		0.343	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDAH1	HGNC	protein_coding	OTTHUMT00000029189.1	32	0.00	0	C			85784437	85784437	-1	no_errors	ENST00000474200	ensembl	human	known	69_37n	rna	16	27.27	6	SNP	0.986	G
DDIT4	54541	genome.wustl.edu	37	10	74034581	74034581	+	Nonsense_Mutation	SNP	C	C	T	rs147217433		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr10:74034581C>T	ENST00000307365.3	+	3	535	c.334C>T	c.(334-336)Cga>Tga	p.R112*	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	112					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GCTGGGCTCTCGACGCCCTGC	0.667											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													63.0	69.0	67.0					10																	74034581		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"""HIF-1 responsive RTP801"""	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.334C>T	10.37:g.74034581C>T	ENSP00000307305:p.Arg112*	Somatic	1149	WXS	Illumina GAIIx	Phase_IV	Q9H0S3	Nonsense_Mutation	SNP	pfam_RTP801-like	p.R112*	ENST00000307365.3	37	c.334	CCDS7315.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.518780	0.96416	.	.	ENSG00000168209	ENST00000307365	.	.	.	4.96	3.97	0.46021	.	0.275088	0.31821	N	0.007007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.6362	11.9473	0.52936	0.2612:0.7388:0.0:0.0	.	.	.	.	X	112	.	ENSP00000307305:R112X	R	+	1	2	DDIT4	73704587	0.989000	0.36119	1.000000	0.80357	0.953000	0.61014	1.138000	0.31491	2.289000	0.77006	0.462000	0.41574	CGA	DDIT4	-	pfam_RTP801-like	ENSG00000168209		0.667	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDIT4	HGNC	protein_coding	OTTHUMT00000048577.1	18	0.00	0	C	NM_019058		74034581	74034581	+1	no_errors	ENST00000307365	ensembl	human	known	69_37n	nonsense	24	29.41	10	SNP	0.994	T
DDR1	780	genome.wustl.edu	37	6	30861152	30861152	+	Silent	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:30861152C>A	ENST00000324771.8	+	12	1847	c.1299C>A	c.(1297-1299)atC>atA	p.I433I	MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376567.2_Silent_p.I433I|DDR1_ENST00000376575.3_Silent_p.I433I|DDR1_ENST00000513240.1_Silent_p.I433I|DDR1_ENST00000376568.3_Silent_p.I433I|DDR1_ENST00000376569.3_Silent_p.I433I|DDR1_ENST00000361741.4_Silent_p.I164I|DDR1_ENST00000376570.4_Silent_p.I433I|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000508312.1_Silent_p.I451I|DDR1_ENST00000454612.2_Silent_p.I433I|DDR1_ENST00000418800.2_Silent_p.I433I|DDR1_ENST00000452441.1_Silent_p.I433I			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	433					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TGCTGCTCATCATTGCCCTCA	0.697																																						dbGAP											0													50.0	37.0	41.0					6																	30861152		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.1299C>A	6.37:g.30861152C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom	p.I433	ENST00000324771.8	37	c.1299	CCDS34385.1	6																																																																																			DDR1	-	NULL	ENSG00000204580		0.697	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DDR1	HGNC	protein_coding	OTTHUMT00000076494.3	72	0.00	0	C	NM_013994		30861152	30861152	+1	no_errors	ENST00000376575	ensembl	human	known	69_37n	silent	103	14.17	17	SNP	1.000	A
DDX23	9416	genome.wustl.edu	37	12	49239453	49239453	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:49239453G>C	ENST00000308025.3	-	2	192	c.113C>G	c.(112-114)tCt>tGt	p.S38C	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	38	Arg-rich.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						AGATGGGGAAGACTTCCGGTC	0.537																																						dbGAP											0													119.0	109.0	112.0					12																	49239453		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.113C>G	12.37:g.49239453G>C	ENSP00000310723:p.Ser38Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R600|B4DH15|O43188	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.S38C	ENST00000308025.3	37	c.113	CCDS8770.1	12	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247435	0.59103	.	.	ENSG00000174243	ENST00000308025;ENST00000552512;ENST00000551468	T	0.23950	1.88	6.0	6.0	0.97389	.	0.428899	0.25253	N	0.032016	T	0.27489	0.0675	L	0.27053	0.805	0.53688	D	0.999978	P	0.41041	0.736	B	0.43536	0.423	T	0.01639	-1.1306	10	0.66056	D	0.02	-9.7546	19.3312	0.94288	0.0:0.0:1.0:0.0	.	38	Q9BUQ8	DDX23_HUMAN	C	38	ENSP00000310723:S38C	ENSP00000310723:S38C	S	-	2	0	DDX23	47525720	0.957000	0.32711	1.000000	0.80357	0.438000	0.31896	2.946000	0.49050	2.868000	0.98415	0.556000	0.70494	TCT	DDX23	-	NULL	ENSG00000174243		0.537	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX23	HGNC	protein_coding	OTTHUMT00000408897.2	47	0.00	0	G	NM_004818		49239453	49239453	-1	no_errors	ENST00000308025	ensembl	human	known	69_37n	missense	37	24.49	12	SNP	1.000	C
DENND1B	163486	genome.wustl.edu	37	1	197621422	197621422	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:197621422G>A	ENST00000367396.3	-	7	559	c.390C>T	c.(388-390)ctC>ctT	p.L130L	DENND1B_ENST00000235453.4_Silent_p.L120L|DENND1B_ENST00000400967.2_Silent_p.L120L	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	130	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						ACAGTGATCTGAGAGTTTCAT	0.308																																						dbGAP											0													103.0	96.0	98.0					1																	197621422		1821	4080	5901	-	-	-	SO:0001819	synonymous_variant	0			BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.390C>T	1.37:g.197621422G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Silent	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.L130	ENST00000367396.3	37	c.390	CCDS41452.2	1																																																																																			DENND1B	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000213047		0.308	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND1B	HGNC	protein_coding	OTTHUMT00000086539.1	34	0.00	0	G	NM_144977		197621422	197621422	-1	no_errors	ENST00000367396	ensembl	human	known	69_37n	silent	33	13.16	5	SNP	0.914	A
DENND5B	160518	genome.wustl.edu	37	12	31632842	31632842	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:31632842G>A	ENST00000389082.5	-	3	849	c.585C>T	c.(583-585)atC>atT	p.I195I	DENND5B_ENST00000354285.4_Silent_p.I217I|DENND5B_ENST00000306833.6_Silent_p.I230I|DENND5B_ENST00000545147.1_Intron|DENND5B_ENST00000536562.1_Silent_p.I230I	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	195	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTAACGGTGTGATCAAGCATA	0.428																																						dbGAP											0													138.0	131.0	134.0					12																	31632842		1928	4140	6068	-	-	-	SO:0001819	synonymous_variant	0			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.585C>T	12.37:g.31632842G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.I230	ENST00000389082.5	37	c.690	CCDS44857.1	12																																																																																			DENND5B	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000170456		0.428	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	35	0.00	0	G	NM_144973		31632842	31632842	-1	no_errors	ENST00000306833	ensembl	human	known	69_37n	silent	33	17.50	7	SNP	1.000	A
DEPDC7	91614	genome.wustl.edu	37	11	33047337	33047337	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:33047337C>T	ENST00000241051.3	+	2	298	c.206C>T	c.(205-207)tCa>tTa	p.S69L	DEPDC7_ENST00000311388.3_Missense_Mutation_p.S60L	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	69	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TTTGTTGGTTCAGAAGCTGTG	0.398																																						dbGAP											0													188.0	176.0	180.0					11																	33047337		1895	4119	6014	-	-	-	SO:0001583	missense	0				CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.206C>T	11.37:g.33047337C>T	ENSP00000241051:p.Ser69Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.S69L	ENST00000241051.3	37	c.206	CCDS41632.1	11	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973920	0.92919	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.28666	1.6;1.6	6.04	6.04	0.98038	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.63438	0.2511	M	0.85710	2.77	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.87578	0.998;0.99;0.983;0.971	T	0.63488	-0.6626	10	0.51188	T	0.08	-4.9759	20.5792	0.99380	0.0:1.0:0.0:0.0	.	69;69;60;69	B4DJ78;B4DH51;G5E941;Q96QD5	.;.;.;DEPD7_HUMAN	L	69;60	ENSP00000241051:S69L;ENSP00000308971:S60L	ENSP00000241051:S69L	S	+	2	0	DEPDC7	33003913	1.000000	0.71417	0.968000	0.41197	0.994000	0.84299	7.479000	0.81095	2.873000	0.98535	0.561000	0.74099	TCA	DEPDC7	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	ENSG00000121690		0.398	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPDC7	HGNC	protein_coding	OTTHUMT00000388655.1	53	0.00	0	C	NM_139160		33047337	33047337	+1	no_errors	ENST00000241051	ensembl	human	known	69_37n	missense	44	20.00	11	SNP	0.999	T
DERA	51071	genome.wustl.edu	37	12	16189254	16189254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:16189254G>A	ENST00000428559.2	+	8	1051	c.839G>A	c.(838-840)tGg>tAg	p.W280*	DERA_ENST00000526530.1_Nonsense_Mutation_p.W192*|DERA_ENST00000532573.1_3'UTR|DERA_ENST00000532964.1_Nonsense_Mutation_p.W237*	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	280					deoxyribonucleoside catabolic process (GO:0046121)|deoxyribonucleotide catabolic process (GO:0009264)|deoxyribose phosphate catabolic process (GO:0046386)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	deoxyribose-phosphate aldolase activity (GO:0004139)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				GGAGATGAGTGGCTGAAGCCA	0.468																																						dbGAP											0													92.0	92.0	92.0					12																	16189254		1878	4119	5997	-	-	-	SO:0001587	stop_gained	0			AF132960	CCDS44838.1, CCDS73451.1	12p12.3	2010-06-24	2010-06-24		ENSG00000023697	ENSG00000023697	4.1.2.4		24269	protein-coding gene	gene with protein product			"""2-deoxyribose-5-phosphate aldolase homolog (C. elegans)"""			12546782	Standard	XM_006719083		Approved	CGI-26, DEOC	uc001rde.3	Q9Y315	OTTHUMG00000165537	ENST00000428559.2:c.839G>A	12.37:g.16189254G>A	ENSP00000416583:p.Trp280*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53HN9|Q6PHW2	Nonsense_Mutation	SNP	pfam_DeoC/AroFGH_arch,pirsf_DeoC,tigrfam_DeoC	p.W280*	ENST00000428559.2	37	c.839	CCDS44838.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.264181	0.97426	.	.	ENSG00000023697	ENST00000428559;ENST00000532964;ENST00000526530	.	.	.	5.57	5.57	0.84162	.	0.056032	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3717	19.555	0.95342	0.0:0.0:1.0:0.0	.	.	.	.	X	280;237;192	.	ENSP00000416583:W280X	W	+	2	0	DERA	16080521	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.448000	0.97600	2.640000	0.89533	0.655000	0.94253	TGG	DERA	-	pfam_DeoC/AroFGH_arch,pirsf_DeoC,tigrfam_DeoC	ENSG00000023697		0.468	DERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DERA	HGNC	protein_coding	OTTHUMT00000384731.1	41	0.00	0	G	NM_015954		16189254	16189254	+1	no_errors	ENST00000428559	ensembl	human	known	69_37n	nonsense	40	14.89	7	SNP	1.000	A
DHRS4	10901	genome.wustl.edu	37	14	24423024	24423024	+	Silent	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:24423024C>G	ENST00000313250.5	+	1	230	c.27C>G	c.(25-27)ctC>ctG	p.L9L	DHRS4_ENST00000558263.1_Silent_p.L9L|DHRS4_ENST00000397073.2_5'UTR|DHRS4_ENST00000558581.1_Silent_p.L9L|DHRS4_ENST00000397074.3_Silent_p.L9L|DHRS4_ENST00000421831.1_5'UTR|DHRS4_ENST00000382761.3_5'UTR|DHRS4_ENST00000397075.3_Silent_p.L9L|DHRS4_ENST00000559632.1_Silent_p.L9L|DHRS4_ENST00000543741.2_Silent_p.L9L|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000308178.8_5'UTR	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	9					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	TGCTAGGCCTCTGTGCCCGGG	0.657																																						dbGAP											0													48.0	52.0	51.0					14																	24423024		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 2"""	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.27C>G	14.37:g.24423024C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect	p.L9	ENST00000313250.5	37	c.27	CCDS9605.1	14																																																																																			DHRS4	-	NULL	ENSG00000157326		0.657	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS4	HGNC	protein_coding	OTTHUMT00000071857.3	84	0.00	0	C			24423024	24423024	+1	no_errors	ENST00000313250	ensembl	human	known	69_37n	silent	74	22.92	22	SNP	0.000	G
DHX36	170506	genome.wustl.edu	37	3	154042066	154042066	+	Missense_Mutation	SNP	C	C	T	rs558792451		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:154042066C>T	ENST00000496811.1	-	1	220	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	DHX36_ENST00000308361.6_Missense_Mutation_p.R47Q|DHX36_ENST00000329463.5_Missense_Mutation_p.R47Q|DHX36_ENST00000544526.1_Missense_Mutation_p.R47Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	47	Gly-rich.|RNA-binding; sufficient and required for recruitment to cytoplasmic stress granules.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CCTGCCGCCTCGACCACCCCC	0.692																																						dbGAP											0													33.0	41.0	39.0					3																	154042066		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.140G>A	3.37:g.154042066C>T	ENSP00000417078:p.Arg47Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R47Q	ENST00000496811.1	37	c.140	CCDS3171.1	3	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603469	0.46423	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463	T;T;D;T	0.91521	-1.31;-1.31;-2.86;-1.31	3.33	3.33	0.38152	.	0.390745	0.26109	N	0.026286	D	0.86293	0.5898	N	0.08118	0	0.39910	D	0.974016	D;D;D	0.69078	0.997;0.997;0.994	D;D;P	0.66847	0.947;0.947;0.885	T	0.81720	-0.0804	10	0.12103	T	0.63	.	10.4339	0.44424	0.0:1.0:0.0:0.0	.	47;47;47	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	Q	47	ENSP00000417078:R47Q;ENSP00000309296:R47Q;ENSP00000444247:R47Q;ENSP00000330113:R47Q	ENSP00000309296:R47Q	R	-	2	0	DHX36	155524760	0.855000	0.29742	1.000000	0.80357	0.860000	0.49131	4.006000	0.57083	2.142000	0.66516	0.655000	0.94253	CGA	DHX36	-	NULL	ENSG00000174953		0.692	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX36	HGNC	protein_coding	OTTHUMT00000353349.1	40	0.00	0	C	NM_020865		154042066	154042066	-1	no_errors	ENST00000496811	ensembl	human	known	69_37n	missense	40	23.08	12	SNP	1.000	T
DHX9	1660	genome.wustl.edu	37	1	182847159	182847159	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:182847159G>C	ENST00000367549.3	+	20	2312	c.2202G>C	c.(2200-2202)caG>caC	p.Q734H	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	734	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TATGTAGGCAGAAAGTGAAAC	0.388																																					Colon(69;210 1162 3697 13559 39565)	dbGAP											0																																										-	-	-	SO:0001583	missense	0			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2202G>C	1.37:g.182847159G>C	ENSP00000356520:p.Gln734His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd	p.Q734H	ENST00000367549.3	37	c.2202	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775483	0.49786	.	.	ENSG00000135829	ENST00000367549	T	0.02579	4.24	5.86	-0.178	0.13303	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.03695	0.0105	N	0.04245	-0.25	0.45594	D	0.998536	D;D	0.65815	0.96;0.995	P;D	0.67231	0.76;0.95	T	0.52193	-0.8608	10	0.44086	T	0.13	.	11.0019	0.47611	0.5582:0.0:0.4418:0.0	.	13;734	B3KU66;Q08211	.;DHX9_HUMAN	H	734	ENSP00000356520:Q734H	ENSP00000356520:Q734H	Q	+	3	2	DHX9	181113782	1.000000	0.71417	0.991000	0.47740	0.613000	0.37349	1.940000	0.40223	-0.299000	0.08909	-0.136000	0.14681	CAG	DHX9	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000135829		0.388	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	61	0.00	0	G	NM_030588		182847159	182847159	+1	no_errors	ENST00000367549	ensembl	human	known	69_37n	missense	55	15.38	10	SNP	1.000	C
DIO3	1735	genome.wustl.edu	37	14	102024751	102024751	+	5'Flank	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:102024751G>A	ENST00000510508.4	+	0	0				DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_5'Flank			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III						cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TGACCACTGGGATGGGACAAG	0.637																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681		14.37:g.102024751G>A	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAM0|Q8WVN5	RNA	SNP	-	NULL	ENST00000510508.4	37	NULL	CCDS41992.2	14																																																																																			DIO3OS	-	-	ENSG00000258498		0.637	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	DIO3OS	HGNC	protein_coding	OTTHUMT00000361712.4	26	0.00	0	G	NM_001362		102024751	102024751	-1	no_errors	ENST00000554735	ensembl	human	known	69_37n	rna	17	29.17	7	SNP	0.096	A
DKK3	27122	genome.wustl.edu	37	11	11985983	11985983	+	3'UTR	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:11985983G>A	ENST00000396505.2	-	0	1319				DKK3_ENST00000525493.1_3'UTR|DKK3_ENST00000527132.1_5'UTR|DKK3_ENST00000326932.4_3'UTR|DKK3_ENST00000450094.2_3'UTR	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3						adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		TATTTCTATTGCACATCTACC	0.542																																						dbGAP											0													85.0	104.0	98.0					11																	11985983		2201	4294	6495	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"""regulated in glioma"""	605416	"""dickkopf (Xenopus laevis) homolog 3"", ""dickkopf 3 homolog (Xenopus laevis)"""			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.*28C>T	11.37:g.11985983G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1I2|D3DQW1|Q9ULB7	RNA	SNP	-	NULL	ENST00000396505.2	37	NULL	CCDS7808.1	11																																																																																			DKK3	-	-	ENSG00000050165		0.542	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DKK3	HGNC	protein_coding	OTTHUMT00000385863.1	39	0.00	0	G	NM_013253		11985983	11985983	-1	no_errors	ENST00000527132	ensembl	human	known	69_37n	rna	42	22.22	12	SNP	1.000	A
DLX4	1748	genome.wustl.edu	37	17	48050219	48050219	+	Intron	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:48050219G>C	ENST00000240306.3	+	2	578				DLX4_ENST00000411890.2_5'UTR|DLX4_ENST00000503410.1_3'UTR	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4						multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CCTGGGAGCAGAACTGCGTCT	0.672																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"""Homeoboxes / ANTP class : NKL subclass"""	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.284-218G>C	17.37:g.48050219G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	RNA	SNP	-	NULL	ENST00000240306.3	37	NULL	CCDS11555.1	17																																																																																			DLX4	-	-	ENSG00000108813		0.672	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX4	HGNC	protein_coding	OTTHUMT00000366214.1	15	0.00	0	G			48050219	48050219	+1	no_errors	ENST00000503410	ensembl	human	known	69_37n	rna	13	27.78	5	SNP	0.000	C
DNAH17	8632	genome.wustl.edu	37	17	76523036	76523036	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:76523036G>C	ENST00000585328.1	-	23	3665	c.3541C>G	c.(3541-3543)Cag>Gag	p.Q1181E	DNAH17_ENST00000389840.5_Missense_Mutation_p.Q1184E	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1184	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGCTTCACCTGAATGGCCAGT	0.557																																						dbGAP											0													30.0	31.0	31.0					17																	76523036		2024	4171	6195	-	-	-	SO:0001583	missense	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.3541C>G	17.37:g.76523036G>C	ENSP00000465516:p.Gln1181Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.Q1184E	ENST00000585328.1	37	c.3550		17	.	.	.	.	.	.	.	.	.	.	G	7.538	0.660035	0.14645	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.22743	1.94	4.45	3.47	0.39725	.	.	.	.	.	T	0.26629	0.0651	M	0.66939	2.045	0.19575	N	0.999966	.	.	.	.	.	.	T	0.13629	-1.0502	7	0.19590	T	0.45	.	8.2867	0.31932	0.0827:0.1583:0.759:0.0	.	.	.	.	E	1181;1184	ENSP00000374490:Q1184E	ENSP00000300671:Q1181E	Q	-	1	0	DNAH17	74034631	0.000000	0.05858	1.000000	0.80357	0.495000	0.33615	0.762000	0.26503	1.085000	0.41206	-0.304000	0.09214	CAG	DNAH17	-	NULL	ENSG00000187775		0.557	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	39	0.00	0	G	NM_173628		76523036	76523036	-1	no_errors	ENST00000389840	ensembl	human	known	69_37n	missense	32	20.00	8	SNP	0.606	C
DNAH5	1767	genome.wustl.edu	37	5	13737381	13737381	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:13737381G>A	ENST00000265104.4	-	66	11539	c.11435C>T	c.(11434-11436)gCc>gTc	p.A3812V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3812					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCCTCCCGGGCTGAGTTAAT	0.423									Kartagener syndrome																													dbGAP											0													126.0	129.0	128.0					5																	13737381		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11435C>T	5.37:g.13737381G>A	ENSP00000265104:p.Ala3812Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q92860|Q96L74|Q9H5S7|Q9HCG9	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.A3812V	ENST00000265104.4	37	c.11435	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.206794	0.95033	.	.	ENSG00000039139	ENST00000265104	T	0.32988	1.43	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.67239	0.2872	H	0.94183	3.505	0.80722	D	1	D	0.56968	0.978	D	0.64595	0.927	T	0.77239	-0.2661	10	0.72032	D	0.01	.	19.2675	0.93996	0.0:0.0:1.0:0.0	.	3812	Q8TE73	DYH5_HUMAN	V	3812	ENSP00000265104:A3812V	ENSP00000265104:A3812V	A	-	2	0	DNAH5	13790381	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.807000	0.99171	2.573000	0.86826	0.655000	0.94253	GCC	DNAH5	-	NULL	ENSG00000039139		0.423	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	56	0.00	0	G	NM_001369		13737381	13737381	-1	no_errors	ENST00000265104	ensembl	human	known	69_37n	missense	49	39.51	32	SNP	1.000	A
DNAH6	1768	genome.wustl.edu	37	2	84880565	84880565	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:84880565G>T	ENST00000237449.6	+	33	5209	c.5201G>T	c.(5200-5202)aGa>aTa	p.R1734I	DNAH6_ENST00000398278.2_Missense_Mutation_p.R1734I|DNAH6_ENST00000389394.3_Missense_Mutation_p.R1734I			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	1734	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TGTATGGTTAGAAAGGTGATA	0.403																																						dbGAP											0													60.0	53.0	55.0					2																	84880565		692	1591	2283	-	-	-	SO:0001583	missense	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.5201G>T	2.37:g.84880565G>T	ENSP00000237449:p.Arg1734Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R1734I	ENST00000237449.6	37	c.5201	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	8.794	0.931244	0.18131	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.24723	1.84;1.97;1.84	5.03	1.06	0.20224	.	.	.	.	.	T	0.15176	0.0366	N	0.21240	0.645	0.37008	D	0.895575	B	0.09022	0.002	B	0.06405	0.002	T	0.09530	-1.0670	9	0.37606	T	0.19	.	7.9215	0.29848	0.7086:0.0:0.2914:0.0	.	1734	Q9C0G6	DYH6_HUMAN	I	1734	ENSP00000374045:R1734I;ENSP00000381326:R1734I;ENSP00000237449:R1734I	ENSP00000237449:R1734I	R	+	2	0	DNAH6	84734076	0.001000	0.12720	0.999000	0.59377	0.912000	0.54170	0.685000	0.25378	0.180000	0.19960	-0.280000	0.10049	AGA	DNAH6	-	NULL	ENSG00000115423		0.403	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	61	0.00	0	G	NM_001370		84880565	84880565	+1	no_errors	ENST00000237449	ensembl	human	known	69_37n	missense	45	10.00	5	SNP	0.942	T
DNAH7	56171	genome.wustl.edu	37	2	196642548	196642548	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:196642548G>A	ENST00000312428.6	-	59	11140	c.11040C>T	c.(11038-11040)atC>atT	p.I3680I	DNAH7_ENST00000409063.1_Silent_p.I163I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3680					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAACAAAATAGATGCCACTTG	0.383																																						dbGAP											0													118.0	113.0	115.0					2																	196642548		1969	4157	6126	-	-	-	SO:0001819	synonymous_variant	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11040C>T	2.37:g.196642548G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.I3680	ENST00000312428.6	37	c.11040	CCDS42794.1	2																																																																																			DNAH7	-	pfam_Dynein_heavy	ENSG00000118997		0.383	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	52	0.00	0	G	NM_018897		196642548	196642548	-1	no_errors	ENST00000312428	ensembl	human	known	69_37n	silent	34	19.05	8	SNP	1.000	A
DNAH7	56171	genome.wustl.edu	37	2	196834702	196834702	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:196834702C>T	ENST00000312428.6	-	17	2275	c.2175G>A	c.(2173-2175)ctG>ctA	p.L725L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	725	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACTTTCCATTCAGTATTTGAG	0.313																																						dbGAP											0													84.0	76.0	79.0					2																	196834702		1815	4075	5890	-	-	-	SO:0001819	synonymous_variant	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2175G>A	2.37:g.196834702C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.L725	ENST00000312428.6	37	c.2175	CCDS42794.1	2																																																																																			DNAH7	-	NULL	ENSG00000118997		0.313	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	48	0.00	0	C	NM_018897		196834702	196834702	-1	no_errors	ENST00000312428	ensembl	human	known	69_37n	silent	42	22.22	12	SNP	1.000	T
DNAI1	27019	genome.wustl.edu	37	9	34483462	34483462	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:34483462G>C	ENST00000242317.4	+	2	236	c.65G>C	c.(64-66)aGa>aCa	p.R22T	DNAI1_ENST00000545019.1_Missense_Mutation_p.R22T	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	22					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AGCATAGGCAGAGGAACCAGG	0.363									Kartagener syndrome																													dbGAP											0													137.0	128.0	131.0					9																	34483462		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.65G>C	9.37:g.34483462G>C	ENSP00000242317:p.Arg22Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R22T	ENST00000242317.4	37	c.65	CCDS6557.1	9	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103225	0.56183	.	.	ENSG00000122735	ENST00000242317;ENST00000545019	T;T	0.76060	-0.99;1.33	4.21	3.31	0.37934	.	0.458976	0.23513	N	0.047376	T	0.62588	0.2440	N	0.14661	0.345	0.31882	N	0.618384	D;B	0.56287	0.975;0.105	P;B	0.53861	0.736;0.038	T	0.61535	-0.7043	10	0.12766	T	0.61	.	7.8599	0.29504	0.111:0.0:0.889:0.0	.	22;22	B7Z7U1;Q9UI46	.;DNAI1_HUMAN	T	22	ENSP00000242317:R22T;ENSP00000443667:R22T	ENSP00000242317:R22T	R	+	2	0	DNAI1	34473462	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	0.411000	0.21115	1.365000	0.46057	0.455000	0.32223	AGA	DNAI1	-	NULL	ENSG00000122735		0.363	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAI1	HGNC	protein_coding	OTTHUMT00000052192.1	80	0.00	0	G			34483462	34483462	+1	no_errors	ENST00000242317	ensembl	human	known	69_37n	missense	89	14.42	15	SNP	1.000	C
DNAJC2	27000	genome.wustl.edu	37	7	102956214	102956214	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:102956214C>G	ENST00000379263.3	-	15	1883	c.1633G>C	c.(1633-1635)Gaa>Caa	p.E545Q	DNAJC2_ENST00000249270.7_Missense_Mutation_p.E492Q|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	545					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						AATTTACCTTCAAATCGTTCT	0.373																																						dbGAP											0													160.0	141.0	147.0					7																	102956214		1895	4112	6007	-	-	-	SO:0001583	missense	0			X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.1633G>C	7.37:g.102956214C>G	ENSP00000368565:p.Glu545Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4VCI0|Q9BVX1	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_N	p.E545Q	ENST00000379263.3	37	c.1633	CCDS43628.1	7	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017257	0.93404	.	.	ENSG00000105821	ENST00000249270;ENST00000379263	.	.	.	5.78	5.78	0.91487	.	0.043374	0.85682	D	0.000000	T	0.58192	0.2105	L	0.43152	1.355	0.80722	D	1	P;P	0.50272	0.933;0.828	P;B	0.47251	0.542;0.255	T	0.50651	-0.8803	9	0.20519	T	0.43	.	20.0106	0.97448	0.0:1.0:0.0:0.0	.	492;545	Q99543-2;Q99543	.;DNJC2_HUMAN	Q	492;545	.	ENSP00000249270:E492Q	E	-	1	0	DNAJC2	102743450	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.404000	0.79996	2.722000	0.93159	0.655000	0.94253	GAA	DNAJC2	-	NULL	ENSG00000105821		0.373	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC2	HGNC	protein_coding	OTTHUMT00000347891.1	77	0.00	0	C			102956214	102956214	-1	no_errors	ENST00000379263	ensembl	human	known	69_37n	missense	50	16.67	10	SNP	1.000	G
DNAJB6	10049	genome.wustl.edu	37	7	157208808	157208808	+	3'UTR	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:157208808C>T	ENST00000262177.4	+	0	1202				DNAJB6_ENST00000494267.1_3'UTR|DNAJB6_ENST00000443280.1_3'UTR|DNAJB6_ENST00000452797.2_3'UTR	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6						intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ACTTGAGGCACGCGGTGCACC	0.592																																					Esophageal Squamous(46;195 967 1350 20350 43814)	dbGAP											0													108.0	80.0	89.0					7																	157208808		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AB014888	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			ENSG00000105993	ENSG00000105993		"""Heat shock proteins / DNAJ (HSP40)"""	14888	protein-coding gene	gene with protein product		611332	"""limb girdle muscular dystrophy 1D (autosomal dominant)"""	LGMD1D		10319584, 9915854, 22366786	Standard	NM_005494		Approved	MRJ	uc003wnk.3	O75190	OTTHUMG00000157242	ENST00000262177.4:c.*16C>T	7.37:g.157208808C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	RNA	SNP	-	NULL	ENST00000262177.4	37	NULL	CCDS5946.1	7																																																																																			DNAJB6	-	-	ENSG00000105993		0.592	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	DNAJB6	HGNC	protein_coding	OTTHUMT00000348119.2	31	0.00	0	C			157208808	157208808	+1	no_errors	ENST00000494267	ensembl	human	putative	69_37n	rna	31	16.22	6	SNP	0.001	T
DNAJC3	5611	genome.wustl.edu	37	13	96329521	96329521	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr13:96329521C>T	ENST00000602402.1	+	1	129	c.12C>T	c.(10-12)ccC>ccT	p.P4P	DNAJC3_ENST00000376795.6_Silent_p.P4P|DNAJC3-AS1_ENST00000499499.2_lincRNA	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	4					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			TGGTGGCCCCCGGCTCCGTGA	0.697																																						dbGAP											0													54.0	48.0	50.0					13																	96329521		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.12C>T	13.37:g.96329521C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WT9|Q8N4N2	Silent	SNP	pfam_TPR-1,pfam_DnaJ_N,smart_TPR_repeat,smart_DnaJ_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.P4	ENST00000602402.1	37	c.12	CCDS9479.1	13																																																																																			DNAJC3	-	NULL	ENSG00000102580		0.697	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC3	HGNC	protein_coding	OTTHUMT00000045504.3	35	0.00	0	C			96329521	96329521	+1	no_errors	ENST00000376795	ensembl	human	known	69_37n	silent	43	20.37	11	SNP	0.994	T
DOCK5	80005	genome.wustl.edu	37	8	25237860	25237860	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:25237860G>T	ENST00000276440.7	+	39	4020	c.3976G>T	c.(3976-3978)Gag>Tag	p.E1326*		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1326	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGAGTTGGCTGAGACTTACGA	0.448																																					Pancreas(145;34 1887 3271 10937 30165)	dbGAP											0													90.0	81.0	84.0					8																	25237860		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3976G>T	8.37:g.25237860G>T	ENSP00000276440:p.Glu1326*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Nonsense_Mutation	SNP	pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.E1326*	ENST00000276440.7	37	c.3976	CCDS6047.1	8	.	.	.	.	.	.	.	.	.	.	G	43	10.073869	0.99331	.	.	ENSG00000147459	ENST00000276440	.	.	.	5.82	5.82	0.92795	.	0.161531	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	20.0852	0.97797	0.0:0.0:1.0:0.0	.	.	.	.	X	1326	.	ENSP00000276440:E1326X	E	+	1	0	DOCK5	25293777	1.000000	0.71417	0.769000	0.31535	0.792000	0.44763	4.478000	0.60230	2.756000	0.94617	0.561000	0.74099	GAG	DOCK5	-	superfamily_ARM-type_fold	ENSG00000147459		0.448	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2	46	0.00	0	G	NM_024940		25237860	25237860	+1	no_errors	ENST00000276440	ensembl	human	known	69_37n	nonsense	28	21.62	8	SNP	0.994	T
DONSON	29980	genome.wustl.edu	37	21	34954336	34954336	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr21:34954336C>T	ENST00000303071.5	-	7	1138	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	DONSON_ENST00000303113.6_Missense_Mutation_p.E344K|DONSON_ENST00000432378.1_Missense_Mutation_p.E358K|DONSON_ENST00000453626.1_Missense_Mutation_p.E358K	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	358					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						CTTTCCTCTTCATCCTCATCA	0.398																																						dbGAP											0													116.0	115.0	115.0					21																	34954336		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.1072G>A	21.37:g.34954336C>T	ENSP00000307143:p.Glu358Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	NULL	p.E358K	ENST00000303071.5	37	c.1072	CCDS13632.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.374044|4.374044	0.82573|0.82573	.|.	.|.	ENSG00000159147|ENSG00000159147	ENST00000303113;ENST00000453626;ENST00000303071;ENST00000432378|ENST00000437395	.|.	.|.	.|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.202581|.	0.50627|.	D|.	0.000103|.	T|T	0.77032|0.77032	0.4071|0.4071	M|M	0.70903|0.70903	2.155|2.155	0.80722|0.80722	D|D	1|1	P;P|.	0.36249|.	0.545;0.545|.	B;B|.	0.31812|.	0.136;0.136|.	T|T	0.73701|0.73701	-0.3900|-0.3900	9|5	0.30078|.	T|.	0.28|.	-45.7755|-45.7755	20.1899|20.1899	0.98228|0.98228	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	344;358|.	F8W8A5;Q9NYP3|.	.;DONS_HUMAN|.	K|I	344;358;358;358|328	.|.	ENSP00000307143:E358K|.	E|M	-|-	1|3	0|0	DONSON|DONSON	33876206|33876206	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.755000|0.755000	0.42902|0.42902	5.427000|5.427000	0.66483|0.66483	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GAA|ATG	DONSON	-	NULL	ENSG00000159147		0.398	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DONSON	HGNC	protein_coding	OTTHUMT00000141184.1	68	0.00	0	C	NM_017613		34954336	34954336	-1	no_errors	ENST00000303071	ensembl	human	known	69_37n	missense	71	13.41	11	SNP	1.000	T
DOPEY2	9980	genome.wustl.edu	37	21	37571491	37571491	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr21:37571491G>C	ENST00000399151.3	+	3	347	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	DOPEY2_ENST00000492760.1_Intron	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	88					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGAAACCTACGAGATTATCTT	0.478																																						dbGAP											0													99.0	90.0	93.0					21																	37571491		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.262G>C	21.37:g.37571491G>C	ENSP00000382104:p.Glu88Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.E88Q	ENST00000399151.3	37	c.262	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682637	0.68157	.	.	ENSG00000142197	ENST00000270190;ENST00000399151	T	0.13538	2.58	4.82	4.82	0.62117	Dopey, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.34308	0.0893	M	0.64170	1.965	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.03630	-1.1018	10	0.20519	T	0.43	-21.9531	18.2941	0.90139	0.0:0.0:1.0:0.0	.	88;88	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	Q	88	ENSP00000382104:E88Q	ENSP00000270190:E88Q	E	+	1	0	DOPEY2	36493361	1.000000	0.71417	0.990000	0.47175	0.874000	0.50279	9.297000	0.96120	2.382000	0.81193	0.563000	0.77884	GAG	DOPEY2	-	pfam_Dopey_N	ENSG00000142197		0.478	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	73	0.00	0	G	NM_005128		37571491	37571491	+1	no_errors	ENST00000399151	ensembl	human	known	69_37n	missense	64	16.88	13	SNP	1.000	C
DSCAM	1826	genome.wustl.edu	37	21	41496179	41496179	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr21:41496179G>A	ENST00000400454.1	-	20	4116	c.3639C>T	c.(3637-3639)ctC>ctT	p.L1213L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1213	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGTTCAGCTTGAGAGGGGGAA	0.557																																					Melanoma(134;970 1778 1785 21664 32388)	dbGAP											0													141.0	150.0	147.0					21																	41496179		2036	4186	6222	-	-	-	SO:0001819	synonymous_variant	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3639C>T	21.37:g.41496179G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O60468	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L1213	ENST00000400454.1	37	c.3639	CCDS42929.1	21																																																																																			DSCAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000171587		0.557	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	47	0.00	0	G	NM_001389		41496179	41496179	-1	no_errors	ENST00000400454	ensembl	human	known	69_37n	silent	41	18.00	9	SNP	0.997	A
DST	667	genome.wustl.edu	37	6	56362839	56362839	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:56362839C>G	ENST00000361203.3	-	76	18956	c.18949G>C	c.(18949-18951)Gat>Cat	p.D6317H	DST_ENST00000340834.4_5'UTR|DST_ENST00000421834.2_Missense_Mutation_p.D4340H|DST_ENST00000446842.2_Missense_Mutation_p.D6102H|DST_ENST00000370754.5_Missense_Mutation_p.D6606H|DST_ENST00000370769.4_Missense_Mutation_p.D6428H|DST_ENST00000244364.6_Missense_Mutation_p.D4014H|DST_ENST00000370788.2_Missense_Mutation_p.D4231H|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6316					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCTAATACATCATTTTGGAGC	0.353																																						dbGAP											0													172.0	159.0	163.0					6																	56362839		1879	4109	5988	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.18949G>C	6.37:g.56362839C>G	ENSP00000354508:p.Asp6317His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.D6606H	ENST00000361203.3	37	c.19816		6	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848253	0.71603	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.79	5.79	0.91817	.	0.000000	0.53938	D	0.000060	T	0.75722	0.3888	M	0.88105	2.93	0.35089	D	0.764163	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	T	0.79548	-0.1758	9	0.87932	D	0	.	20.0308	0.97536	0.0:1.0:0.0:0.0	.	4340;6428;6606;6426;4014	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	H	4014;6606;6428;4340;6102;4231;6317	ENSP00000244364:D4014H;ENSP00000359790:D6606H;ENSP00000359805:D6428H;ENSP00000400883:D4340H;ENSP00000393645:D6102H;ENSP00000359824:D4231H;ENSP00000354508:D6317H	ENSP00000244364:D4014H	D	-	1	0	DST	56470798	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.461000	0.80834	2.732000	0.93576	0.585000	0.79938	GAT	DST	-	pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000151914		0.353	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	52	0.00	0	C	NM_001723		56362839	56362839	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	43	24.56	14	SNP	1.000	G
DST	667	genome.wustl.edu	37	6	56462600	56462600	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:56462600C>G	ENST00000361203.3	-	43	11507	c.11500G>C	c.(11500-11502)Gat>Cat	p.D3834H	DST_ENST00000421834.2_Missense_Mutation_p.D1748H|DST_ENST00000446842.2_Missense_Mutation_p.D3510H|DST_ENST00000370754.5_Missense_Mutation_p.D4014H|DST_ENST00000370769.4_Missense_Mutation_p.D3836H|DST_ENST00000244364.6_Missense_Mutation_p.D1422H|DST_ENST00000370788.2_Missense_Mutation_p.D1748H|DST_ENST00000312431.6_Missense_Mutation_p.D3834H			Q03001	DYST_HUMAN	dystonin	3834					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCATCAACATCAGTCTCCAAC	0.398																																						dbGAP											0													222.0	205.0	210.0					6																	56462600		1964	4165	6129	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11500G>C	6.37:g.56462600C>G	ENSP00000354508:p.Asp3834His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.D4014H	ENST00000361203.3	37	c.12040		6	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056654	0.36277	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;D;T;T	0.83075	1.01;-0.19;-0.17;-0.03;0.78;-1.68;-0.08;-0.19	5.67	5.67	0.87782	.	0.500398	0.18267	N	0.146445	D	0.87700	0.6243	M	0.71581	2.175	0.24531	N	0.994118	P;P;P;P;P	0.49635	0.877;0.859;0.881;0.926;0.531	B;P;P;B;B	0.59948	0.293;0.62;0.866;0.444;0.286	D	0.86754	0.1962	9	0.48119	T	0.1	.	16.834	0.85952	0.0:0.8083:0.1917:0.0	.	1748;3836;4014;3834;1422	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	H	1422;4014;3836;1748;3510;3834;1748;3834	ENSP00000244364:D1422H;ENSP00000359790:D4014H;ENSP00000359805:D3836H;ENSP00000400883:D1748H;ENSP00000393645:D3510H;ENSP00000307959:D3834H;ENSP00000359824:D1748H;ENSP00000354508:D3834H	ENSP00000244364:D1422H	D	-	1	0	DST	56570559	0.991000	0.36638	0.298000	0.25002	0.345000	0.29048	2.981000	0.49329	2.834000	0.97654	0.650000	0.86243	GAT	DST	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000151914		0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	77	0.00	0	C	NM_001723		56462600	56462600	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	87	20.00	22	SNP	0.961	G
DTWD2	285605	genome.wustl.edu	37	5	118264307	118264307	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:118264307G>A	ENST00000510708.1	-	4	555	c.522C>T	c.(520-522)atC>atT	p.I174I	DTWD2_ENST00000515439.3_Intron|DTWD2_ENST00000304058.4_Silent_p.I108I	NM_173666.2	NP_775937.1	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	174										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		CAATGATGATGATTGTAGAAG	0.373																																						dbGAP											0													60.0	67.0	65.0					5																	118264307		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS34216.1	5q23.1	2008-02-05			ENSG00000169570	ENSG00000169570			19334	protein-coding gene	gene with protein product							Standard	NM_173666		Approved	FLJ33977	uc003ksa.3	Q8NBA8	OTTHUMG00000162956	ENST00000510708.1:c.522C>T	5.37:g.118264307G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_DTW	p.I174	ENST00000510708.1	37	c.522	CCDS34216.1	5																																																																																			DTWD2	-	pfam_DTW	ENSG00000169570		0.373	DTWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTWD2	HGNC	protein_coding	OTTHUMT00000371167.2	39	0.00	0	G	NM_173666		118264307	118264307	-1	no_errors	ENST00000510708	ensembl	human	known	69_37n	silent	34	19.05	8	SNP	0.989	A
EAF2	55840	genome.wustl.edu	37	3	121555595	121555595	+	Intron	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:121555595C>G	ENST00000273668.2	+	1	177				IQCB1_ENST00000349820.6_5'Flank|IQCB1_ENST00000310864.6_5'Flank|EAF2_ENST00000451944.2_Intron|EAF2_ENST00000465664.1_3'UTR	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2						apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		TTTTCCATGCCTTTTTCTCAA	0.393																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.106+1357C>G	3.37:g.121555595C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZ82	RNA	SNP	-	NULL	ENST00000273668.2	37	NULL	CCDS3006.1	3																																																																																			EAF2	-	-	ENSG00000145088		0.393	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EAF2	HGNC	protein_coding	OTTHUMT00000355247.1	69	0.00	0	C	NM_018456		121555595	121555595	+1	no_errors	ENST00000465664	ensembl	human	known	69_37n	rna	50	35.90	28	SNP	0.050	G
DZIP1L	199221	genome.wustl.edu	37	3	137783497	137783497	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:137783497C>A	ENST00000327532.2	-	15	2477	c.2115G>T	c.(2113-2115)agG>agT	p.R705S		NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	705					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GTGTGGCAGCCCTCTGTGGCC	0.532																																						dbGAP											0													135.0	150.0	145.0					3																	137783497		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.2115G>T	3.37:g.137783497C>A	ENSP00000332148:p.Arg705Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JUG5|Q96M38	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.R705S	ENST00000327532.2	37	c.2115	CCDS3096.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.729|8.729	0.916262|0.916262	0.17907|0.17907	.|.	.|.	ENSG00000158163|ENSG00000158163	ENST00000486487|ENST00000327532	.|T	.|0.10288	.|2.89	4.93|4.93	-8.11|-8.11	0.01082|0.01082	.|.	.|0.307750	.|0.27139	.|N	.|0.020745	T|T	0.06050|0.06050	0.0157|0.0157	L|L	0.41236|0.41236	1.265|1.265	0.09310|0.09310	N|N	1|1	.|B	.|0.16396	.|0.017	.|B	.|0.09377	.|0.004	T|T	0.10590|0.10590	-1.0623|-1.0623	5|10	.|0.32370	.|T	.|0.25	-2.2176|-2.2176	8.1803|8.1803	0.31307|0.31307	0.0:0.1142:0.3257:0.56|0.0:0.1142:0.3257:0.56	.|.	.|705	.|Q8IYY4	.|DZI1L_HUMAN	C|S	75|705	.|ENSP00000332148:R705S	.|ENSP00000332148:R705S	G|R	-|-	1|3	0|2	DZIP1L|DZIP1L	139266187|139266187	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.952000|-0.952000	0.03881|0.03881	-2.046000|-2.046000	0.00909|0.00909	-0.127000|-0.127000	0.14921|0.14921	GGC|AGG	DZIP1L	-	NULL	ENSG00000158163		0.532	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	HGNC	protein_coding	OTTHUMT00000357548.1	37	0.00	0	C	NM_173543		137783497	137783497	-1	no_errors	ENST00000327532	ensembl	human	known	69_37n	missense	38	11.63	5	SNP	0.000	A
ECE1	1889	genome.wustl.edu	37	1	21586797	21586797	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:21586797G>A	ENST00000374893.6	-	5	656	c.582C>T	c.(580-582)ctC>ctT	p.L194L	ECE1_ENST00000357071.4_Silent_p.L182L|ECE1_ENST00000264205.6_Silent_p.L191L|ECE1_ENST00000436918.2_Silent_p.L194L|ECE1_ENST00000415912.2_Silent_p.L178L	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	194					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GTTTGGCCCTGAGCTCCTCGA	0.612																																						dbGAP											0													283.0	252.0	262.0					1																	21586797		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.582C>T	1.37:g.21586797G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.L194	ENST00000374893.6	37	c.582	CCDS215.1	1																																																																																			ECE1	-	pfam_Peptidase_M13_N	ENSG00000117298		0.612	ECE1-002	KNOWN	basic|CCDS	protein_coding	ECE1	HGNC	protein_coding	OTTHUMT00000007470.2	27	0.00	0	G	NM_001397		21586797	21586797	-1	no_errors	ENST00000374893	ensembl	human	known	69_37n	silent	46	11.54	6	SNP	0.894	A
EDEM1	9695	genome.wustl.edu	37	3	5248877	5248877	+	Silent	SNP	C	C	T	rs368778438		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:5248877C>T	ENST00000256497.4	+	7	1390	c.1257C>T	c.(1255-1257)ctC>ctT	p.L419L	EDEM1_ENST00000445686.1_Silent_p.L224L	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	419					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		ACCCTCCACTCTATGTCAACG	0.498																																						dbGAP											0													163.0	155.0	158.0					3																	5248877		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1257C>T	3.37:g.5248877C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9C8|B4DXP3	Silent	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.L419	ENST00000256497.4	37	c.1257	CCDS33686.1	3																																																																																			EDEM1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000134109		0.498	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM1	HGNC	protein_coding	OTTHUMT00000337566.2	32	0.00	0	C	NM_014674		5248877	5248877	+1	no_errors	ENST00000256497	ensembl	human	known	69_37n	silent	39	23.53	12	SNP	0.864	T
ECT2	1894	genome.wustl.edu	37	3	172478015	172478015	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:172478015C>G	ENST00000392692.3	+	7	822	c.646C>G	c.(646-648)Cat>Gat	p.H216D	ECT2_ENST00000417960.1_Missense_Mutation_p.H184D|ECT2_ENST00000232458.5_Missense_Mutation_p.H185D|ECT2_ENST00000427830.1_Missense_Mutation_p.H185D|ECT2_ENST00000441497.2_Missense_Mutation_p.H185D|ECT2_ENST00000540509.1_Missense_Mutation_p.H216D	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	216	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAAAGTTACACATTTGGTGGC	0.343																																						dbGAP											0													110.0	107.0	108.0					3																	172478015		2203	4300	6503	-	-	-	SO:0001583	missense	0			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.646C>G	3.37:g.172478015C>G	ENSP00000376457:p.His216Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain	p.H185D	ENST00000392692.3	37	c.553	CCDS58860.1	3	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853920	0.91355	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000428567;ENST00000441497;ENST00000540509	D;D;D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66	5.8	5.8	0.92144	BRCT (4);	0.000000	0.85682	D	0.000000	D	0.97785	0.9273	M	0.89163	3.01	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.80764	0.979;0.994;0.994;0.994	D	0.98154	1.0443	10	0.87932	D	0	-18.3619	19.681	0.95964	0.0:1.0:0.0:0.0	.	216;216;185;184	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	D	185;216;185;184;184;185;216	ENSP00000232458:H185D;ENSP00000376457:H216D;ENSP00000401910:H185D;ENSP00000415876:H184D;ENSP00000403501:H184D;ENSP00000412259:H185D;ENSP00000443160:H216D	ENSP00000232458:H185D	H	+	1	0	ECT2	173960709	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.167000	0.77562	2.744000	0.94065	0.655000	0.94253	CAT	ECT2	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000114346		0.343	ECT2-003	NOVEL	basic|CCDS	protein_coding	ECT2	HGNC	protein_coding	OTTHUMT00000345994.2	37	0.00	0	C	NM_018098		172478015	172478015	+1	no_errors	ENST00000427830	ensembl	human	known	69_37n	missense	53	14.52	9	SNP	1.000	G
EDNRA	1909	genome.wustl.edu	37	4	148453722	148453722	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:148453722G>T	ENST00000324300.5	+	4	1128	c.613G>T	c.(613-615)Gaa>Taa	p.E205*	EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000339690.5_Nonstop_Mutation_p.*162L|EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000511804.1_5'UTR|EDNRA_ENST00000506066.1_Intron	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	205					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	AACTGCCATTGAAATTGTCTC	0.453																																						dbGAP											0													188.0	172.0	177.0					4																	148453722		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.613G>T	4.37:g.148453722G>T	ENSP00000315011:p.Glu205*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_ETA_rcpt,prints_Endthln_rcpt,prints_7TM_GPCR_Rhodpsn	p.E205*	ENST00000324300.5	37	c.613	CCDS3769.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.435566|9.435566	0.99171|0.99171	.|.	.|.	ENSG00000151617|ENSG00000151617	ENST00000324300|ENST00000339690	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.046152|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.15499|.	T|.	0.54|.	-20.4444|-20.4444	19.4992|19.4992	0.95086|0.95086	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	205|162	.|.	ENSP00000315011:E205X|.	E|X	+|+	1|2	0|2	EDNRA|EDNRA	148673172|148673172	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.966000|0.966000	0.64601|0.64601	9.471000|9.471000	0.97696|0.97696	2.604000|2.604000	0.88044|0.88044	0.557000|0.557000	0.71058|0.71058	GAA|TGA	EDNRA	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Endthln_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000151617		0.453	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRA	HGNC	protein_coding	OTTHUMT00000364635.1	52	0.00	0	G			148453722	148453722	+1	no_errors	ENST00000324300	ensembl	human	known	69_37n	nonsense	45	22.41	13	SNP	1.000	T
EHBP1L1	254102	genome.wustl.edu	37	11	65351030	65351030	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:65351030G>C	ENST00000309295.4	+	9	3152	c.2887G>C	c.(2887-2889)Gag>Cag	p.E963Q		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	963						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GAAGGTTTTAGAGTCTCCAGA	0.547																																						dbGAP											0													22.0	24.0	23.0					11																	65351030		1837	4082	5919	-	-	-	SO:0001583	missense	0			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.2887G>C	11.37:g.65351030G>C	ENSP00000312671:p.Glu963Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TB89|Q9H7M7	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.E963Q	ENST00000309295.4	37	c.2887	CCDS44649.1	11	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811559	0.50527	.	.	ENSG00000173442	ENST00000309295	T	0.65364	-0.15	5.41	5.41	0.78517	.	0.392350	0.19459	N	0.113748	T	0.43523	0.1251	N	0.24115	0.695	0.58432	D	0.999999	P	0.39282	0.666	B	0.34489	0.184	T	0.33624	-0.9861	10	0.17369	T	0.5	.	11.7364	0.51767	0.0:0.0:0.8236:0.1764	.	963	Q8N3D4	EH1L1_HUMAN	Q	963	ENSP00000312671:E963Q	ENSP00000312671:E963Q	E	+	1	0	EHBP1L1	65107606	0.362000	0.24980	0.009000	0.14445	0.146000	0.21551	3.761000	0.55242	2.541000	0.85698	0.436000	0.28706	GAG	EHBP1L1	-	NULL	ENSG00000173442		0.547	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1L1	HGNC	protein_coding	OTTHUMT00000390145.1	21	0.00	0	G	XM_170658		65351030	65351030	+1	no_errors	ENST00000309295	ensembl	human	known	69_37n	missense	21	19.23	5	SNP	0.026	C
EHD2	30846	genome.wustl.edu	37	19	48244171	48244171	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:48244171C>T	ENST00000263277.3	+	6	1365	c.1114C>T	c.(1114-1116)Cac>Tac	p.H372Y	EHD2_ENST00000538399.1_Missense_Mutation_p.H236Y|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	372					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CACCAAGTTTCACTCGCTGAA	0.632																																						dbGAP											0													39.0	33.0	35.0					19																	48244171		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1114C>T	19.37:g.48244171C>T	ENSP00000263277:p.His372Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.H372Y	ENST00000263277.3	37	c.1114	CCDS12704.1	19	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393707	0.42410	.	.	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364;ENST00000538399;ENST00000454483;ENST00000540884	T;T	0.22336	2.28;1.96	3.99	2.95	0.34219	.	0.135420	0.48767	D	0.000161	T	0.22044	0.0531	L	0.58101	1.795	0.43947	D	0.996612	P	0.51240	0.943	B	0.42738	0.396	T	0.02837	-1.1104	10	0.72032	D	0.01	-43.6924	9.6067	0.39637	0.0:0.8928:0.0:0.1072	.	372	Q9NZN4	EHD2_HUMAN	Y	372;372;362;236;55;55	ENSP00000263277:H372Y;ENSP00000439036:H236Y	ENSP00000263277:H372Y	H	+	1	0	EHD2	52935983	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	4.729000	0.62008	0.788000	0.33755	0.561000	0.74099	CAC	EHD2	-	NULL	ENSG00000024422		0.632	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD2	HGNC	protein_coding	OTTHUMT00000465851.1	26	0.00	0	C			48244171	48244171	+1	no_errors	ENST00000263277	ensembl	human	known	69_37n	missense	35	14.63	6	SNP	1.000	T
EIF4A2	1974	genome.wustl.edu	37	3	186504030	186504030	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:186504030G>A	ENST00000323963.5	+	6	659	c.595G>A	c.(595-597)Gag>Aag	p.E199K	SNORD2_ENST00000459163.1_RNA|SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.E200K|SNORA63_ENST00000363548.1_RNA|SNORA81_ENST00000408493.2_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.E104K|SNORA4_ENST00000584302.1_RNA|RP11-573D15.9_ENST00000577781.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	199	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TCAAATCTATGAGATTTTCCA	0.358			T	BCL6	NHL																																	dbGAP		Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	0													80.0	80.0	80.0					3																	186504030		2203	4300	6503	-	-	-	SO:0001583	missense	0			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.595G>A	3.37:g.186504030G>A	ENSP00000326381:p.Glu199Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E200K	ENST00000323963.5	37	c.598	CCDS3282.1	3	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861186	0.71949	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.14640	2.49;2.49;2.49	5.13	5.13	0.70059	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.045727	0.85682	D	0.000000	T	0.15782	0.0380	N	0.21142	0.635	0.80722	D	1	P;B;B;B	0.41848	0.763;0.075;0.008;0.01	P;B;B;B	0.46208	0.507;0.217;0.021;0.035	T	0.01249	-1.1406	10	0.87932	D	0	-28.5483	16.4642	0.84073	0.0:0.0:1.0:0.0	.	55;104;200;199	B4DJX6;Q9NZE6;Q14240-2;Q14240	.;.;.;IF4A2_HUMAN	K	199;200;104	ENSP00000326381:E199K;ENSP00000398370:E200K;ENSP00000348925:E104K	ENSP00000326381:E199K	E	+	1	0	EIF4A2	187986724	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.941000	0.92964	2.827000	0.97445	0.650000	0.86243	GAG	EIF4A2	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000156976		0.358	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	HGNC	protein_coding	OTTHUMT00000344609.1	12	0.00	0	G	NM_001967		186504030	186504030	+1	no_errors	ENST00000440191	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	1.000	A
EIF4G3	8672	genome.wustl.edu	37	1	21190980	21190980	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:21190980C>G	ENST00000264211.8	-	16	3021	c.2827G>C	c.(2827-2829)Gaa>Caa	p.E943Q	EIF4G3_ENST00000374935.3_Missense_Mutation_p.E663Q|EIF4G3_ENST00000537738.1_Missense_Mutation_p.E433Q|EIF4G3_ENST00000536266.1_Missense_Mutation_p.E547Q|EIF4G3_ENST00000602326.1_Missense_Mutation_p.E949Q|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E943Q|EIF4G3_ENST00000374937.3_Missense_Mutation_p.E949Q	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	943	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TTTGCTTTTTCAAAGTCCAAG	0.433																																						dbGAP											0													131.0	130.0	130.0					1																	21190980		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2827G>C	1.37:g.21190980C>G	ENSP00000264211:p.Glu943Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.E949Q	ENST00000264211.8	37	c.2845	CCDS214.1	1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873923	0.91664	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81	5.42	5.42	0.78866	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.056629	0.64402	D	0.000001	T	0.52869	0.1761	M	0.71920	2.185	0.80722	D	1	D;D;D;D;P	0.89917	1.0;0.999;0.999;1.0;0.823	D;D;D;D;P	0.91635	0.999;0.988;0.986;0.998;0.465	T	0.51537	-0.8693	10	0.51188	T	0.08	-17.0438	19.2242	0.93812	0.0:1.0:0.0:0.0	.	1138;663;547;949;943	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	Q	943;1139;943;663;433;949;547	ENSP00000264211:E943Q;ENSP00000383274:E943Q;ENSP00000364071:E663Q;ENSP00000442010:E433Q;ENSP00000364073:E949Q;ENSP00000444693:E547Q	ENSP00000264211:E943Q	E	-	1	0	EIF4G3	21063567	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.818000	0.86416	2.553000	0.86117	0.591000	0.81541	GAA	EIF4G3	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	ENSG00000075151		0.433	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3	35	0.00	0	C	NM_003760		21190980	21190980	-1	no_errors	ENST00000374937	ensembl	human	known	69_37n	missense	28	12.50	4	SNP	1.000	G
ELAVL4	1996	genome.wustl.edu	37	1	50661270	50661270	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:50661270G>C	ENST00000371823.4	+	5	770	c.546G>C	c.(544-546)aaG>aaC	p.K182N	ELAVL4_ENST00000371824.1_Missense_Mutation_p.K182N|ELAVL4_ENST00000371819.1_Missense_Mutation_p.K187N|ELAVL4_ENST00000357083.4_Missense_Mutation_p.K199N|ELAVL4_ENST00000371821.1_Missense_Mutation_p.K187N|ELAVL4_ENST00000448907.2_Missense_Mutation_p.K185N|ELAVL4_ENST00000371827.1_Missense_Mutation_p.K182N	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	182	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GCTTTGATAAGAGGATTGAGG	0.502																																						dbGAP											0													98.0	102.0	100.0					1																	50661270		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.546G>C	1.37:g.50661270G>C	ENSP00000360888:p.Lys182Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.K187N	ENST00000371823.4	37	c.561	CCDS553.1	1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844861	0.91197	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.05139	3.49;3.49;3.49;3.49;3.49;3.49;3.49	5.87	4.96	0.65561	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.10766	0.0263	N	0.12853	0.265	0.80722	D	1	D;P;P;D;D;D;D	0.62365	0.984;0.895;0.625;0.991;0.989;0.98;0.984	P;P;B;P;P;P;P	0.62740	0.849;0.857;0.274;0.906;0.765;0.664;0.849	T	0.34329	-0.9833	10	0.48119	T	0.1	.	15.0047	0.71501	0.068:0.0:0.932:0.0	.	187;187;182;182;199;182;185	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	N	185;182;199;182;182;187;187	ENSP00000399939:K185N;ENSP00000360892:K182N;ENSP00000349594:K199N;ENSP00000360889:K182N;ENSP00000360888:K182N;ENSP00000360886:K187N;ENSP00000360884:K187N	ENSP00000349594:K199N	K	+	3	2	ELAVL4	50433857	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.583000	0.60964	1.499000	0.48617	0.655000	0.94253	AAG	ELAVL4	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF	ENSG00000162374		0.502	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	ELAVL4	HGNC	protein_coding	OTTHUMT00000021712.1	55	0.00	0	G	NM_021952		50661270	50661270	+1	no_errors	ENST00000371821	ensembl	human	known	69_37n	missense	44	10.20	5	SNP	1.000	C
ELF1	1997	genome.wustl.edu	37	13	41517240	41517240	+	Silent	SNP	G	G	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr13:41517240G>T	ENST00000239882.3	-	7	968	c.654C>A	c.(652-654)ctC>ctA	p.L218L	ELF1_ENST00000442101.1_Silent_p.L194L|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	218					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CCTTGTCCTGGAGCAGTGCCA	0.378																																						dbGAP											0													74.0	71.0	72.0					13																	41517240		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.654C>A	13.37:g.41517240G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Silent	SNP	pfam_TF_Elf_N,pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets	p.L218	ENST00000239882.3	37	c.654	CCDS9374.1	13																																																																																			ELF1	-	pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets	ENSG00000120690		0.378	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF1	HGNC	protein_coding	OTTHUMT00000044654.3	39	0.00	0	G	NM_172373		41517240	41517240	-1	no_errors	ENST00000239882	ensembl	human	known	69_37n	silent	43	17.31	9	SNP	0.494	T
EMILIN1	11117	genome.wustl.edu	37	2	27303691	27303691	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:27303691G>C	ENST00000380320.4	+	3	881	c.382G>C	c.(382-384)Gac>Cac	p.D128H		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	128	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGGGCGATGACTGTGCTGA	0.672											OREG0014513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													58.0	43.0	48.0					2																	27303691		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.382G>C	2.37:g.27303691G>C	ENSP00000369677:p.Asp128His	Somatic	793	WXS	Illumina GAIIx	Phase_IV	A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.D128H	ENST00000380320.4	37	c.382	CCDS1733.1	2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988943	0.74589	.	.	ENSG00000138080	ENST00000380320	T	0.68181	-0.31	6.07	6.07	0.98685	EMI domain (1);	0.000000	0.85682	D	0.000000	D	0.82296	0.5006	M	0.79123	2.44	0.58432	D	0.999993	D	0.89917	1.0	D	0.87578	0.998	D	0.83463	0.0055	10	0.87932	D	0	-35.654	16.144	0.81551	0.0:0.0:1.0:0.0	.	128	Q9Y6C2	EMIL1_HUMAN	H	128	ENSP00000369677:D128H	ENSP00000369677:D128H	D	+	1	0	EMILIN1	27157195	1.000000	0.71417	0.961000	0.40146	0.047000	0.14425	7.757000	0.85209	2.884000	0.98904	0.655000	0.94253	GAC	EMILIN1	-	pfscan_EMI_domain	ENSG00000138080		0.672	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN1	HGNC	protein_coding	OTTHUMT00000214185.1	77	0.00	0	G	NM_007046		27303691	27303691	+1	no_errors	ENST00000380320	ensembl	human	known	69_37n	missense	82	13.68	13	SNP	1.000	C
ENTPD3	956	genome.wustl.edu	37	3	40433438	40433438	+	Intron	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:40433438C>G	ENST00000301825.3	+	3	158				ENTPD3_ENST00000456402.1_Intron|ENTPD3_ENST00000445129.1_Intron|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3						nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TGGGGCCAGTCCATCAATTCT	0.488																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.41-76C>G	3.37:g.40433438C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8D0|G5E9N0|O60495|Q8N6K2	RNA	SNP	-	NULL	ENST00000301825.3	37	NULL	CCDS2691.1	3																																																																																			ENTPD3-AS1	-	-	ENSG00000223797		0.488	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD3-AS1	HGNC	protein_coding	OTTHUMT00000254179.2	66	0.00	0	C	NM_001248		40433438	40433438	-1	no_errors	ENST00000425156	ensembl	human	known	69_37n	rna	57	10.94	7	SNP	0.000	G
EPHA4	2043	genome.wustl.edu	37	2	222307703	222307703	+	Silent	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:222307703G>C	ENST00000281821.2	-	11	1961	c.1920C>G	c.(1918-1920)ctC>ctG	p.L640L	EPHA4_ENST00000409938.1_Silent_p.L640L|EPHA4_ENST00000409854.1_Silent_p.L640L|EPHA4_ENST00000392071.4_Silent_p.L589L	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	640	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CAGGCACTTTGAGACGCCCAC	0.443																																						dbGAP											0													126.0	122.0	123.0					2																	222307703		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1920C>G	2.37:g.222307703G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2P1|B2R601|B7Z6Q8|Q2M380	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.L640	ENST00000281821.2	37	c.1920	CCDS2447.1	2																																																																																			EPHA4	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000116106		0.443	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	40	0.00	0	G			222307703	222307703	-1	no_errors	ENST00000281821	ensembl	human	known	69_37n	silent	51	17.74	11	SNP	1.000	C
EPHB2	2048	genome.wustl.edu	37	1	23111289	23111289	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:23111289C>T	ENST00000400191.3	+	3	549	c.531C>T	c.(529-531)gcC>gcT	p.A177A	EPHB2_ENST00000374627.1_Silent_p.A171A|EPHB2_ENST00000374632.3_Silent_p.A177A|EPHB2_ENST00000374630.3_Silent_p.A177A|EPHB2_ENST00000544305.1_Silent_p.A177A	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	177	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TCTACCTGGCCTTCCAGGACT	0.617																																						dbGAP											0													41.0	37.0	38.0					1																	23111289		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.531C>T	1.37:g.23111289C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.A177	ENST00000400191.3	37	c.531		1																																																																																			EPHB2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000133216		0.617	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	HGNC	protein_coding	OTTHUMT00000008060.2	59	0.00	0	C	NM_017449		23111289	23111289	+1	no_errors	ENST00000400191	ensembl	human	known	69_37n	silent	50	28.17	20	SNP	1.000	T
ERAL1	26284	genome.wustl.edu	37	17	27187544	27187544	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:27187544C>T	ENST00000254928.5	+	10	1384	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	MIR144_ENST00000385059.1_lincRNA|MIR144_ENST00000384886.1_lincRNA|MIR144_ENST00000581873.1_lincRNA	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	429	KH type-2.				ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			ATGTTGACATCCGCCTCTCTG	0.567																																						dbGAP											0													168.0	130.0	143.0					17																	27187544		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"""Era (E. coli G-protein homolog)-like 1"", ""Era G-protein-like 1 (E. coli)"""			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.1287C>T	17.37:g.27187544C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Silent	SNP	pfam_GTP_binding_domain,pfam_MIRO-like,pfam_Dynamin_GTPase,pfam_AIG1,pfam_ProtSyn_GTP-bd,pfam_Fe2_transport_prot_B_N,superfamily_KH_prok-type,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.I429	ENST00000254928.5	37	c.1287	CCDS11244.1	17																																																																																			ERAL1	-	superfamily_KH_prok-type	ENSG00000132591		0.567	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAL1	HGNC	protein_coding	OTTHUMT00000255937.2	53	0.00	0	C			27187544	27187544	+1	no_errors	ENST00000254928	ensembl	human	known	69_37n	silent	50	12.28	7	SNP	0.730	T
ERBB3	2065	genome.wustl.edu	37	12	56490388	56490388	+	Silent	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:56490388C>A	ENST00000267101.3	+	18	2597	c.2157C>A	c.(2155-2157)gtC>gtA	p.V719V	ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000415288.2_Silent_p.V660V|ERBB3_ENST00000553131.1_5'UTR|ERBB3_ENST00000450146.2_Silent_p.V76V	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	719	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCTCGGGTGTCTTTGGAACTG	0.488																																						dbGAP											0													165.0	172.0	170.0					12																	56490388		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.2157C>A	12.37:g.56490388C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	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.V719	ENST00000267101.3	37	c.2157	CCDS31833.1	12																																																																																			ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000065361		0.488	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	49	0.00	0	C			56490388	56490388	+1	no_errors	ENST00000267101	ensembl	human	known	69_37n	silent	69	12.66	10	SNP	1.000	A
ERCC3	2071	genome.wustl.edu	37	2	128047295	128047295	+	Silent	SNP	G	G	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:128047295G>T	ENST00000285398.2	-	5	721	c.627C>A	c.(625-627)ctC>ctA	p.L209L	ERCC3_ENST00000493187.2_Silent_p.L145L	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	209					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCTCTGTGATGAGCTCAGTGG	0.522			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""		E	0													90.0	90.0	90.0					2																	128047295		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.627C>A	2.37:g.128047295G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QM0	Nonsense_Mutation	SNP	prints_XPGB_DNA_repair	p.S53*	ENST00000285398.2	37	c.158	CCDS2144.1	2	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306083	0.23736	.	.	ENSG00000163161	ENST00000456257	.	.	.	4.87	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.4883	10.1731	0.42922	0.0756:0.1368:0.7876:0.0	.	.	.	.	X	53	.	.	S	-	2	0	ERCC3	127763765	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.504000	0.53347	1.268000	0.44264	0.655000	0.94253	TCA	ERCC3	-	NULL	ENSG00000163161		0.522	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC3	HGNC	protein_coding	OTTHUMT00000331028.1	27	0.00	0	G	NM_000122		128047295	128047295	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000456257	ensembl	human	novel	69_37n	nonsense	32	23.81	10	SNP	1.000	T
ESRRG	2104	genome.wustl.edu	37	1	216680404	216680404	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:216680404C>T	ENST00000408911.3	-	7	1407	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L	ESRRG_ENST00000359162.2_Silent_p.L395L|ESRRG_ENST00000361395.2_Silent_p.L395L|ESRRG_ENST00000361525.3_Silent_p.L395L|ESRRG_ENST00000366937.1_Silent_p.L430L|ESRRG_ENST00000493748.1_Silent_p.L395L|ESRRG_ENST00000366938.2_Silent_p.L395L|ESRRG_ENST00000366940.2_Silent_p.L395L|ESRRG_ENST00000493603.1_Silent_p.L395L|ESRRG_ENST00000391890.3_Silent_p.L402L|ESRRG_ENST00000360012.3_Silent_p.L395L|ESRRG_ENST00000463665.1_Silent_p.L356L|ESRRG_ENST00000487276.1_Silent_p.L395L	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	418					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GCAGTGTCATCAGCATCTTGC	0.498																																						dbGAP											0													127.0	112.0	117.0					1																	216680404		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.1254G>A	1.37:g.216680404C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.L418	ENST00000408911.3	37	c.1254	CCDS41468.1	1																																																																																			ESRRG	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000196482		0.498	ESRRG-001	KNOWN	basic|CCDS	protein_coding	ESRRG	HGNC	protein_coding	OTTHUMT00000089882.2	35	0.00	0	C	NM_206595		216680404	216680404	-1	no_errors	ENST00000408911	ensembl	human	known	69_37n	silent	20	31.03	9	SNP	1.000	T
EXOSC5	56915	genome.wustl.edu	37	19	41897847	41897847	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:41897847C>T	ENST00000221233.4	-	3	433	c.283G>A	c.(283-285)Gag>Aag	p.E95K	EXOSC5_ENST00000596905.1_Missense_Mutation_p.E57K|CTC-435M10.3_ENST00000540732.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|BCKDHA_ENST00000595085.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	95					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						ATCAGCCGCTCCCGGCTCTTC	0.602																																						dbGAP											0													75.0	78.0	77.0					19																	41897847		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"""exosome component Rrp46"""	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.283G>A	19.37:g.41897847C>T	ENSP00000221233:p.Glu95Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.E95K	ENST00000221233.4	37	c.283	CCDS12580.1	19	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017609	0.93404	.	.	ENSG00000077348	ENST00000221233	T	0.63096	-0.02	5.36	4.33	0.51752	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.78220	0.4249	M	0.78223	2.4	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.81187	-0.1047	10	0.72032	D	0.01	-42.7789	13.0725	0.59070	0.0:0.9218:0.0:0.0782	.	95	Q9NQT4	EXOS5_HUMAN	K	95	ENSP00000221233:E95K	ENSP00000221233:E95K	E	-	1	0	EXOSC5	46589687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.054000	0.71096	1.489000	0.48450	0.655000	0.94253	GAG	EXOSC5	-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold	ENSG00000077348		0.602	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC5	HGNC	protein_coding	OTTHUMT00000463492.1	42	0.00	0	C	NM_020158		41897847	41897847	-1	no_errors	ENST00000221233	ensembl	human	known	69_37n	missense	45	11.76	6	SNP	1.000	T
EXT1	2131	genome.wustl.edu	37	8	118830770	118830770	+	Splice_Site	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:118830770C>G	ENST00000378204.2	-	7	2343		c.e7-1			NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1						axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GAACTATGATCTGAAAGGGAT	0.502			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													dbGAP	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0			GRCh37	CS050793	EXT1	S							122.0	119.0	120.0					8																	118830770		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1537-1G>C	8.37:g.118830770C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7V2|Q9BVI9	Splice_Site	SNP	-	e7-1	ENST00000378204.2	37	c.1537-1	CCDS6324.1	8	.	.	.	.	.	.	.	.	.	.	c	25.0	4.591376	0.86851	.	.	ENSG00000182197	ENST00000378204	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9122	0.92490	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EXT1	118899951	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.442000	0.80503	2.523000	0.85059	0.563000	0.77884	.	EXT1	-	-	ENSG00000182197		0.502	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXT1	HGNC	protein_coding	OTTHUMT00000132768.3	34	0.00	0	C	NM_000127	Intron	118830770	118830770	-1	no_errors	ENST00000378204	ensembl	human	known	69_37n	splice_site	47	17.54	10	SNP	1.000	G
EYS	346007	genome.wustl.edu	37	6	65301429	65301429	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:65301429A>T	ENST00000370621.3	-	26	4857	c.4331T>A	c.(4330-4332)cTc>cAc	p.L1444H	EYS_ENST00000503581.1_Missense_Mutation_p.L1444H|EYS_ENST00000370616.2_Missense_Mutation_p.L1444H			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1444					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCCACGGGAGAGTAATGACTG	0.443																																						dbGAP											0													75.0	72.0	73.0					6																	65301429		692	1590	2282	-	-	-	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4331T>A	6.37:g.65301429A>T	ENSP00000359655:p.Leu1444His	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.L1444H	ENST00000370621.3	37	c.4331		6	.	.	.	.	.	.	.	.	.	.	A	14.41	2.527338	0.44969	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.85702	-2.02;-1.99;-1.99	5.63	3.16	0.36331	.	.	.	.	.	T	0.74099	0.3672	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.95	T	0.77464	-0.2578	9	0.72032	D	0.01	.	6.1701	0.20412	0.7763:0.0:0.0773:0.1463	.	1444;1444	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	H	1444	ENSP00000424243:L1444H;ENSP00000359655:L1444H;ENSP00000359650:L1444H	ENSP00000359650:L1444H	L	-	2	0	EYS	65358150	1.000000	0.71417	0.972000	0.41901	0.776000	0.43924	4.083000	0.57643	0.377000	0.24735	0.482000	0.46254	CTC	EYS	-	NULL	ENSG00000188107		0.443	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	19	0.00	0	A	XM_294050		65301429	65301429	-1	no_errors	ENST00000370616	ensembl	human	known	69_37n	missense	17	32.00	8	SNP	0.998	T
F12	2161	genome.wustl.edu	37	5	176832169	176832169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:176832169G>A	ENST00000253496.3	-	6	463	c.415C>T	c.(415-417)Cag>Tag	p.Q139*	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	139	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	CGGAGAAGCTGAGGCTCAAAG	0.527									Hereditary Angioedema																													dbGAP											0													73.0	76.0	75.0					5																	176832169		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.415C>T	5.37:g.176832169G>A	ENSP00000253496:p.Gln139*	Somatic		WXS	Illumina GAIIx	Phase_IV	P78339	Nonsense_Mutation	SNP	pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EGF-like_dom,pfam_Fibronectin_type1,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.Q139*	ENST00000253496.3	37	c.415	CCDS34302.1	5	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168869	0.78339	.	.	ENSG00000131187	ENST00000253496	.	.	.	5.86	5.86	0.93980	.	0.000000	0.45867	D	0.000327	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	15.6866	0.77415	0.0:0.0:1.0:0.0	.	.	.	.	X	139	.	ENSP00000253496:Q139X	Q	-	1	0	F12	176764775	1.000000	0.71417	0.992000	0.48379	0.024000	0.10985	4.927000	0.63440	2.775000	0.95449	0.655000	0.94253	CAG	F12	-	pirsf_Coagulation_fac_XIIa/HGFA,pfam_Fibronectin_type1,smart_Fibronectin_type1,pfscan_Fibronectin_type1	ENSG00000131187		0.527	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F12	HGNC	protein_coding	OTTHUMT00000373217.1	46	0.00	0	G			176832169	176832169	-1	no_errors	ENST00000253496	ensembl	human	known	69_37n	nonsense	48	11.11	6	SNP	1.000	A
FADS1	3992	genome.wustl.edu	37	11	61583518	61583518	+	5'UTR	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:61583518C>G	ENST00000433932.1	-	0	102				FADS2_ENST00000257261.6_5'Flank|FADS1_ENST00000542506.1_5'Flank|FADS2_ENST00000574708.1_Intron|MIR1908_ENST00000410394.1_RNA|FADS1_ENST00000541683.1_5'UTR|FADS2_ENST00000517839.1_5'Flank|FADS2_ENST00000522056.1_5'Flank|FADS1_ENST00000350997.7_Intron|FADS2_ENST00000522639.1_5'Flank			O60427	FADS1_HUMAN	fatty acid desaturase 1						alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCCCCATCCTCGAGAATGGGC	0.672																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"""Fatty acid desaturases"""	3574	protein-coding gene	gene with protein product	"""delta-5 desaturase"""	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000433932.1:c.-152G>C	11.37:g.61583518C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	RNA	SNP	-	NULL	ENST00000433932.1	37	NULL		11																																																																																			FADS1	-	-	ENSG00000149485		0.672	FADS1-002	PUTATIVE	basic	protein_coding	FADS1	HGNC	protein_coding	OTTHUMT00000347649.2	10	0.00	0	C	NM_013402		61583518	61583518	-1	no_errors	ENST00000541683	ensembl	human	known	69_37n	rna	11	42.11	8	SNP	0.000	G
FAM129C	199786	genome.wustl.edu	37	19	17641688	17641688	+	Silent	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:17641688C>A	ENST00000335393.4	+	3	411	c.273C>A	c.(271-273)cgC>cgA	p.R91R	FAM129C_ENST00000595684.1_Silent_p.R91R|FAM129C_ENST00000300971.2_Silent_p.R91R|FAM129C_ENST00000597887.1_Intron|FAM129C_ENST00000599164.1_Silent_p.R60R|FAM129C_ENST00000449408.2_Intron|FAM129C_ENST00000599124.1_Silent_p.R60R|FAM129C_ENST00000352727.3_Silent_p.R91R|FAM129C_ENST00000601861.1_Silent_p.R60R|FAM129C_ENST00000600871.1_Intron|FAM129C_ENST00000332386.5_Silent_p.R91R	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	91										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						AGTTGCTACGCAGCAAAGTGG	0.622																																						dbGAP											0													59.0	58.0	58.0					19																	17641688		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.273C>A	19.37:g.17641688C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Silent	SNP	smart_Pleckstrin_homology	p.R91	ENST00000335393.4	37	c.273	CCDS12362.1	19																																																																																			FAM129C	-	NULL	ENSG00000167483		0.622	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM129C	HGNC	protein_coding	OTTHUMT00000464206.1	26	0.00	0	C	NM_173544		17641688	17641688	+1	no_errors	ENST00000335393	ensembl	human	known	69_37n	silent	20	33.33	10	SNP	0.009	A
FAM136A	84908	genome.wustl.edu	37	2	70524439	70524439	+	Silent	SNP	G	G	C	rs200723862		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:70524439G>C	ENST00000037869.3	-	3	477	c.399C>G	c.(397-399)ctC>ctG	p.L133L	FAM136A_ENST00000430566.1_Silent_p.L240L|FAM136A_ENST00000450256.1_3'UTR	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN	family with sequence similarity 136, member A	133						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CAATTGATAAGAGAGCCTCCT	0.418																																						dbGAP											0													118.0	109.0	112.0					2																	70524439		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC014975	CCDS1904.1	2p14	2014-02-12	2007-07-10		ENSG00000035141	ENSG00000035141			25911	protein-coding gene	gene with protein product	"""hypothetical protein FLJ14668"""					12477932	Standard	NM_032822		Approved	FLJ14668	uc002sgq.4	Q96C01	OTTHUMG00000129668	ENST00000037869.3:c.399C>G	2.37:g.70524439G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96SS3	Silent	SNP	pfam_DUF842_euk	p.L133	ENST00000037869.3	37	c.399	CCDS1904.1	2																																																																																			FAM136A	-	pfam_DUF842_euk	ENSG00000035141		0.418	FAM136A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM136A	HGNC	protein_coding	OTTHUMT00000251869.2	45	0.00	0	G	NM_032822		70524439	70524439	-1	no_errors	ENST00000037869	ensembl	human	known	69_37n	silent	60	10.45	7	SNP	0.812	C
FAM208B	54906	genome.wustl.edu	37	10	5782304	5782304	+	Missense_Mutation	SNP	C	C	T	rs56856085		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr10:5782304C>T	ENST00000328090.5	+	13	2796	c.2171C>T	c.(2170-2172)tCt>tTt	p.S724F	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	724			S -> Y (in dbSNP:rs56856085).														CGACCACCGTCTGCCCGTGTG	0.488																																						dbGAP											0													75.0	74.0	74.0					10																	5782304		1935	4128	6063	-	-	-	SO:0001583	missense	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2171C>T	10.37:g.5782304C>T	ENSP00000328426:p.Ser724Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.S724F	ENST00000328090.5	37	c.2171	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554787	0.45487	.	.	ENSG00000108021	ENST00000328090	T	0.05855	3.38	5.64	5.64	0.86602	.	0.423091	0.22881	N	0.054507	T	0.23886	0.0578	M	0.67953	2.075	0.20703	N	0.999867	D	0.76494	0.999	D	0.64042	0.921	T	0.01192	-1.1423	10	0.62326	D	0.03	.	19.2839	0.94063	0.0:1.0:0.0:0.0	.	724	Q5VWN6	F208B_HUMAN	F	724	ENSP00000328426:S724F	ENSP00000328426:S724F	S	+	2	0	C10orf18	5822310	0.143000	0.22626	0.068000	0.19968	0.012000	0.07955	3.415000	0.52700	2.652000	0.90054	0.591000	0.81541	TCT	FAM208B	-	NULL	ENSG00000108021		0.488	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	16	0.00	0	C	NM_017782		5782304	5782304	+1	no_errors	ENST00000328090	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	0.417	T
FAM214A	56204	genome.wustl.edu	37	15	52901013	52901013	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr15:52901013C>A	ENST00000261844.7	-	6	2250	c.2098G>T	c.(2098-2100)Gaa>Taa	p.E700*	FAM214A_ENST00000546305.2_Nonsense_Mutation_p.E707*	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	700																	GACATGCTTTCATATTTGTTC	0.303																																						dbGAP											0													110.0	100.0	103.0					15																	52901013		1809	4062	5871	-	-	-	SO:0001587	stop_gained	0			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2098G>T	15.37:g.52901013C>A	ENSP00000261844:p.Glu700*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Nonsense_Mutation	SNP	NULL	p.E700*	ENST00000261844.7	37	c.2098	CCDS45263.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.006789	0.97195	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	.	.	.	6.16	5.24	0.73138	.	0.600495	0.19366	N	0.116008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	14.6706	0.68942	0.0:0.9301:0.0:0.0699	.	.	.	.	X	700;700;699;707	.	ENSP00000261844:E700X	E	-	1	0	KIAA1370	50688305	0.843000	0.29541	0.834000	0.33040	0.103000	0.19146	2.258000	0.43249	1.594000	0.50039	0.650000	0.86243	GAA	FAM214A	-	NULL	ENSG00000047346		0.303	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	69	0.00	0	C	NM_019600		52901013	52901013	-1	no_errors	ENST00000261844	ensembl	human	known	69_37n	nonsense	43	14.00	7	SNP	0.943	A
FAM32A	26017	genome.wustl.edu	37	19	16301698	16301698	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:16301698G>A	ENST00000263384.7	+	4	296	c.271G>A	c.(271-273)Gac>Aac	p.D91N	FAM32A_ENST00000588367.1_Splice_Site_p.D73N|FAM32A_ENST00000589852.1_Splice_Site_p.D71N|CTD-2562J15.4_ENST00000591038.1_RNA	NM_014077.2	NP_054796.1	Q9Y421	FA32A_HUMAN	family with sequence similarity 32, member A	91					apoptotic process (GO:0006915)|cell cycle (GO:0007049)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			lung(1)	1						ACCTCCCCAGGACTTCAACAG	0.597																																						dbGAP											0													92.0	78.0	83.0					19																	16301698		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC000639	CCDS12341.1	19p13.12-p13.11	2013-09-19			ENSG00000105058	ENSG00000105058			24563	protein-coding gene	gene with protein product		614554				11230166, 10810093	Standard	NM_014077		Approved	DKFZP586O0120	uc002ndt.3	Q9Y421	OTTHUMG00000182279	ENST00000263384.7:c.271-1G>A	19.37:g.16301698G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BT02	Missense_Mutation	SNP	pfam_DUF1754_euk	p.D91N	ENST00000263384.7	37	c.271	CCDS12341.1	19	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986202	0.35036	.	.	ENSG00000105058	ENST00000263384	.	.	.	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	L	0.54965	1.715	0.80722	D	1	B	0.25390	0.125	B	0.22753	0.041	T	0.54043	-0.8352	8	.	.	.	-29.9467	13.9249	0.63958	0.0:0.0:1.0:0.0	.	91	Q9Y421	FA32A_HUMAN	N	91	.	.	D	+	1	0	FAM32A	16162698	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	7.282000	0.78630	2.010000	0.58986	0.563000	0.77884	GAC	FAM32A	-	NULL	ENSG00000105058		0.597	FAM32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM32A	HGNC	protein_coding	OTTHUMT00000460346.1	30	0.00	0	G	NM_014077	Missense_Mutation	16301698	16301698	+1	no_errors	ENST00000263384	ensembl	human	known	69_37n	missense	37	15.91	7	SNP	1.000	A
SPATA31A3	727830	genome.wustl.edu	37	9	40704366	40704366	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:40704366C>G	ENST00000356699.5	+	4	2052	c.2023C>G	c.(2023-2025)Ctg>Gtg	p.L675V	RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	675					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGGGCAAATTCTGGGTGAGAC	0.542																																						dbGAP											0													1.0	1.0	1.0					9																	40704366		73	152	225	-	-	-	SO:0001583	missense	0					9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A3"""	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.2023C>G	9.37:g.40704366C>G	ENSP00000349132:p.Leu675Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.L675V	ENST00000356699.5	37	c.2023	CCDS47969.1	9	.	.	.	.	.	.	.	.	.	.	C	3.350	-0.132735	0.06711	.	.	ENSG00000147926	ENST00000356699	T	0.08102	3.13	1.93	1.01	0.19927	.	0.809147	0.10431	N	0.675516	T	0.08268	0.0206	L	0.29908	0.895	0.09310	N	1	P	0.41214	0.742	P	0.46850	0.529	T	0.35943	-0.9768	10	0.30854	T	0.27	-3.5868	4.434	0.11542	0.0:0.7968:0.0:0.2032	.	675	Q5VYP0	F75A3_HUMAN	V	675	ENSP00000349132:L675V	ENSP00000349132:L675V	L	+	1	2	FAM75A3	40694366	0.008000	0.16893	0.002000	0.10522	0.008000	0.06430	1.061000	0.30542	0.373000	0.24621	0.398000	0.26397	CTG	FAM75A3	-	NULL	ENSG00000147926		0.542	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75A3	HGNC	protein_coding	OTTHUMT00000036919.1	14	0.00	0	C	NM_001083124		40704366	40704366	+1	no_errors	ENST00000356699	ensembl	human	known	69_37n	missense	20	31.03	9	SNP	0.002	G
FAM83C	128876	genome.wustl.edu	37	20	33875226	33875226	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:33875226G>A	ENST00000374408.3	-	4	1452	c.1356C>T	c.(1354-1356)ctC>ctT	p.L452L	EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374436.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	452										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGAACTGGAGGAGGGGCCGGG	0.642																																						dbGAP											0													29.0	28.0	28.0					20																	33875226		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1356C>T	20.37:g.33875226G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14D67|Q5JWN6|Q8N276	Silent	SNP	pfam_DUF1669	p.L452	ENST00000374408.3	37	c.1356	CCDS13251.1	20																																																																																			FAM83C	-	NULL	ENSG00000125998		0.642	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83C	HGNC	protein_coding	OTTHUMT00000078854.3	27	0.00	0	G			33875226	33875226	-1	no_errors	ENST00000374408	ensembl	human	known	69_37n	silent	24	20.00	6	SNP	0.139	A
FAM86HP	729375	genome.wustl.edu	37	3	129824435	129824435	+	RNA	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:129824435C>T	ENST00000500074.2	-	0	194									family with sequence similarity 86, member H, pseudogene																		GCCAGCGCCTCGTACAGCTCG	0.567																																						dbGAP											0																																										-	-	-			0					3q22.1	2011-07-01			ENSG00000253540	ENSG00000253540			42359	pseudogene	pseudogene							Standard	NR_024252		Approved		uc011ble.1		OTTHUMG00000159796		3.37:g.129824435C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000500074.2	37	NULL		3																																																																																			FAM86HP	-	-	ENSG00000253540		0.567	FAM86HP-002	PUTATIVE	basic	processed_transcript	FAM86HP	HGNC	pseudogene	OTTHUMT00000358348.1	109	0.00	0	C			129824435	129824435	-1	no_errors	ENST00000500074	ensembl	human	putative	69_37n	rna	101	36.08	57	SNP	1.000	T
FAM91A1	157769	genome.wustl.edu	37	8	124818463	124818463	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:124818463G>T	ENST00000334705.7	+	20	2272	c.2026G>T	c.(2026-2028)Gag>Tag	p.E676*	FAM91A1_ENST00000521166.1_Nonsense_Mutation_p.E676*	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	676										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TGCTTCTGATGAGAGAGGTTA	0.403																																						dbGAP											0													189.0	165.0	173.0					8																	124818463		1892	4117	6009	-	-	-	SO:0001587	stop_gained	0			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.2026G>T	8.37:g.124818463G>T	ENSP00000335082:p.Glu676*	Somatic		WXS	Illumina GAIIx	Phase_IV	B6YY23|Q658T5|Q8TE89	Nonsense_Mutation	SNP	NULL	p.E676*	ENST00000334705.7	37	c.2026	CCDS6346.2	8	.	.	.	.	.	.	.	.	.	.	G	41	9.095071	0.99064	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	.	.	.	5.62	5.62	0.85841	.	0.192906	0.44688	D	0.000430	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	19.6685	0.95901	0.0:0.0:1.0:0.0	.	.	.	.	X	676	.	ENSP00000335082:E676X	E	+	1	0	FAM91A1	124887644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.262000	0.72514	2.639000	0.89480	0.655000	0.94253	GAG	FAM91A1	-	NULL	ENSG00000176853		0.403	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM91A1	HGNC	protein_coding	OTTHUMT00000256607.1	75	0.00	0	G	NM_144963		124818463	124818463	+1	no_errors	ENST00000334705	ensembl	human	known	69_37n	nonsense	71	28.28	28	SNP	1.000	T
FAM9A	171482	genome.wustl.edu	37	X	8763154	8763154	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:8763154C>G	ENST00000543214.1	-	7	931	c.796G>C	c.(796-798)Gag>Cag	p.E266Q	FAM9A_ENST00000381003.3_Missense_Mutation_p.E266Q	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	266	Glu-rich.					nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				tcttcttcctcttcctcttct	0.413																																						dbGAP											0													59.0	53.0	55.0					X																	8763154		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"""testis expressed 39A"""	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.796G>C	X.37:g.8763154C>G	ENSP00000440163:p.Glu266Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLH5|Q2M2D1	Missense_Mutation	SNP	NULL	p.E266Q	ENST00000543214.1	37	c.796	CCDS14131.1	X	.	.	.	.	.	.	.	.	.	.	c	3.296	-0.143831	0.06627	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	.	.	.	.	.	.	.	.	T	0.25269	0.0614	N	0.08118	0	0.09310	N	1	P	0.42039	0.769	P	0.49332	0.607	T	0.18967	-1.0320	6	0.87932	D	0	.	.	.	.	.	266	Q8IZU1	FAM9A_HUMAN	Q	266	.	ENSP00000370391:E266Q	E	-	1	0	FAM9A	8723154	0.021000	0.18746	0.018000	0.16275	0.018000	0.09664	0.229000	0.17833	0.099000	0.17552	0.100000	0.15512	GAG	FAM9A	-	NULL	ENSG00000183304		0.413	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM9A	HGNC	protein_coding	OTTHUMT00000055697.1	44	0.00	0	C	NM_174951		8763154	8763154	-1	no_errors	ENST00000381003	ensembl	human	known	69_37n	missense	33	15.38	6	SNP	0.018	G
FAR1	84188	genome.wustl.edu	37	11	13716450	13716450	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:13716450G>A	ENST00000354817.3	+	2	282	c.138G>A	c.(136-138)caG>caA	p.Q46Q		NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	46					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						TGGTGAGGCAGAAAGCTGGAC	0.463																																						dbGAP											0													115.0	103.0	107.0					11																	13716450		2200	4294	6494	-	-	-	SO:0001819	synonymous_variant	0			AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.138G>A	11.37:g.13716450G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQW8|Q5CZA3	Silent	SNP	pfam_Male_sterile_NAD-bd,pfam_Malesterile,pfam_Epimerase_deHydtase	p.Q46	ENST00000354817.3	37	c.138	CCDS7813.1	11																																																																																			FAR1	-	pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase	ENSG00000197601		0.463	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAR1	HGNC	protein_coding	OTTHUMT00000385990.2	39	0.00	0	G	NM_032228		13716450	13716450	+1	no_errors	ENST00000354817	ensembl	human	known	69_37n	silent	34	17.07	7	SNP	0.999	A
FCER2	2208	genome.wustl.edu	37	19	7755420	7755420	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:7755420C>G	ENST00000346664.5	-	9	705	c.493G>C	c.(493-495)Gaa>Caa	p.E165Q	FCER2_ENST00000360067.4_Missense_Mutation_p.E164Q|FCER2_ENST00000597921.1_Missense_Mutation_p.E165Q	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	165	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				Notch signaling pathway (GO:0007219)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						ATCCACTTTTCAGGGCACGTG	0.607																																						dbGAP											0													73.0	61.0	65.0					19																	7755420		2203	4300	6503	-	-	-	SO:0001583	missense	0			M15059	CCDS12184.1	19p13.3	2011-08-30	2006-03-09			ENSG00000104921		"""C-type lectin domain containing"", ""CD molecules"""	3612	protein-coding gene	gene with protein product		151445	"""Fc fragment of IgE, low affinity II, receptor for (CD23A)"""	CD23A, FCE2			Standard	NM_002002		Approved	CLEC4J, CD23	uc002mhm.2	P06734		ENST00000346664.5:c.493G>C	19.37:g.7755420C>G	ENSP00000264072:p.Glu165Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.E165Q	ENST00000346664.5	37	c.493	CCDS12184.1	19	.	.	.	.	.	.	.	.	.	.	c	10.55	1.382641	0.25031	.	.	ENSG00000104921	ENST00000346664;ENST00000360067	T;T	0.17691	2.26;2.26	4.44	-0.501	0.12008	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.508642	0.14649	U	0.306701	T	0.10423	0.0255	L	0.35854	1.095	0.09310	N	1	B	0.29188	0.236	B	0.31686	0.134	T	0.31280	-0.9949	10	0.22109	T	0.4	.	3.4679	0.07557	0.1756:0.5009:0.0:0.3235	.	165	P06734	FCER2_HUMAN	Q	165;164	ENSP00000264072:E165Q;ENSP00000353178:E164Q	ENSP00000264072:E165Q	E	-	1	0	FCER2	7661420	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.059000	0.11731	0.003000	0.14656	0.282000	0.19409	GAA	FCER2	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII	ENSG00000104921		0.607	FCER2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCER2	HGNC	protein_coding	OTTHUMT00000461832.1	49	0.00	0	C	NM_002002		7755420	7755420	-1	no_errors	ENST00000346664	ensembl	human	known	69_37n	missense	71	16.28	14	SNP	0.000	G
FCGBP	8857	genome.wustl.edu	37	19	40354354	40354354	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:40354354C>T	ENST00000221347.6	-	35	16122	c.16115G>A	c.(16114-16116)tGt>tAt	p.C5372Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5372	VWFD 13. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AAAGTTTCCACAGGCCCCACA	0.577																																						dbGAP											0													89.0	76.0	81.0					19																	40354354		2203	4300	6503	-	-	-	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.16115G>A	19.37:g.40354354C>T	ENSP00000221347:p.Cys5372Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.C5372Y	ENST00000221347.6	37	c.16115	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657788	0.88154	.	.	ENSG00000090920	ENST00000221347	D	0.85339	-1.97	5.88	5.88	0.94601	von Willebrand factor, type D domain (3);	0.000000	0.64402	U	0.000018	D	0.93019	0.7778	M	0.82823	2.61	0.47737	D	0.999502	D	0.89917	1.0	D	0.97110	1.0	D	0.93416	0.6773	10	0.87932	D	0	.	17.7145	0.88332	0.0:1.0:0.0:0.0	.	5372	Q9Y6R7	FCGBP_HUMAN	Y	5372	ENSP00000221347:C5372Y	ENSP00000221347:C5372Y	C	-	2	0	FCGBP	45046194	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	7.266000	0.78452	2.790000	0.95986	0.591000	0.81541	TGT	FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.577	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	79	0.00	0	C	NM_003890		40354354	40354354	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	missense	56	18.84	13	SNP	1.000	T
FCRL3	115352	genome.wustl.edu	37	1	157646545	157646545	+	3'UTR	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:157646545C>T	ENST00000368184.3	-	0	4451				FCRL3_ENST00000368186.5_Missense_Mutation_p.R729K|FCRL3_ENST00000473231.1_5'Flank	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TTTGTTCTTTCTTGGGTTCAG	0.398																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.*1955G>A	1.37:g.157646545C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Splice_Site	SNP	-	e15-1	ENST00000368184.3	37	c.2089-1	CCDS1167.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.154|0.154	-1.088770|-1.088770	0.01873|0.01873	.|.	.|.	ENSG00000160856|ENSG00000160856	ENST00000292392|ENST00000368186	.|T	.|0.49139	.|0.79	1.1|1.1	0.146|0.146	0.14833|0.14833	.|.	.|.	.|.	.|.	.|.	.|T	.|0.07954	.|0.0199	.|.	.|.	.|.	0.19775|0.19775	N|N	0.999957|0.999957	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	.|T	.|0.37842	.|-0.9688	.|8	.|0.12103	.|T	.|0.63	.|.	4.3865|4.3865	0.11319|0.11319	0.3871:0.6129:0.0:0.0|0.3871:0.6129:0.0:0.0	.|.	.|729	.|Q96P31-6	.|.	.|K	-1|729	.|ENSP00000357169:R729K	.|ENSP00000357169:R729K	.|R	-|-	.|2	.|0	FCRL3|FCRL3	155913169|155913169	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.024000|-0.024000	0.12435|0.12435	0.032000|0.032000	0.15435|0.15435	-0.175000|-0.175000	0.13238|0.13238	.|AGA	FCRL3	-	-	ENSG00000160856		0.398	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	40	0.00	0	C	NM_052939		157646545	157646545	-1	no_errors	ENST00000292392	ensembl	human	known	69_37n	splice_site	17	54.05	20	SNP	0.000	T
PRR36	80164	genome.wustl.edu	37	19	7938167	7938167	+	Missense_Mutation	SNP	G	G	C	rs575608267		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:7938167G>C	ENST00000539422.1	-	3	452	c.290C>G	c.(289-291)tCt>tGt	p.S97C	CTD-3193O13.11_ENST00000597156.1_lincRNA|CTD-3193O13.9_ENST00000593356.1_5'UTR	NM_001190467.1	NP_001177396.1																					CCCTCTCCCAGAGGCTGGGGG	0.667																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0																														ENST00000539422.1:c.290C>G	19.37:g.7938167G>C	ENSP00000438970:p.Ser97Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S97C	ENST00000539422.1	37	c.290		19	.	.	.	.	.	.	.	.	.	.	G	1.878	-0.458592	0.04508	.	.	ENSG00000183248	ENST00000539422	.	.	.	2.51	2.51	0.30379	.	.	.	.	.	T	0.43211	0.1237	N	0.19112	0.55	0.58432	D	0.999999	.	.	.	.	.	.	T	0.46569	-0.9182	6	0.72032	D	0.01	.	8.6719	0.34156	0.0:0.0:1.0:0.0	.	.	.	.	C	97	.	ENSP00000438970:S97C	S	-	2	0	AC010336.1	7844167	0.003000	0.15002	0.737000	0.30932	0.011000	0.07611	0.695000	0.25527	1.724000	0.51502	0.305000	0.20034	TCT	AC010336.1	-	NULL	ENSG00000183248		0.667	CTD-3193O13.9-201	KNOWN	basic|appris_principal	protein_coding	FLJ22184	Clone_based_ensembl_gene	protein_coding		36	0.00	0	G			7938167	7938167	-1	no_errors	ENST00000539422	ensembl	human	known	69_37n	missense	48	10.91	6	SNP	0.769	C
FLNA	2316	genome.wustl.edu	37	X	153595102	153595102	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:153595102C>T	ENST00000369850.3	-	6	1221	c.985G>A	c.(985-987)Gag>Aag	p.E329K	FLNA_ENST00000422373.1_Missense_Mutation_p.E329K|FLNA_ENST00000360319.4_Missense_Mutation_p.E329K|FLNA_ENST00000344736.4_Missense_Mutation_p.E329K	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	329					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCCTACCTCCTCCTGGTGT	0.627																																						dbGAP											0													67.0	67.0	67.0					X																	153595102		1992	4143	6135	-	-	-	SO:0001583	missense	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.985G>A	X.37:g.153595102C>T	ENSP00000358866:p.Glu329Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.E329K	ENST00000369850.3	37	c.985	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634559	0.67130	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.24	5.24	0.73138	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	N	0.16862	0.45	0.80722	D	1	B;P	0.38048	0.063;0.616	B;P	0.45276	0.049;0.475	T	0.64041	-0.6500	10	0.72032	D	0.01	.	18.0012	0.89198	0.0:1.0:0.0:0.0	.	329;329	P21333-2;P21333	.;FLNA_HUMAN	K	329;302;329;329;329	ENSP00000353467:E329K;ENSP00000416926:E329K;ENSP00000358866:E329K;ENSP00000358863:E329K	ENSP00000358863:E329K	E	-	1	0	FLNA	153248296	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.809000	0.86057	2.186000	0.69663	0.525000	0.51046	GAG	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.627	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	31	0.00	0	C			153595102	153595102	-1	no_errors	ENST00000369850	ensembl	human	known	69_37n	missense	41	10.87	5	SNP	1.000	T
FOXF2	2295	genome.wustl.edu	37	6	1390509	1390509	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:1390509C>T	ENST00000259806.1	+	1	441	c.327C>T	c.(325-327)atC>atT	p.I109I		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	109					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TCGCGCTCATCGTCATGGCCA	0.726																																						dbGAP											0													25.0	26.0	25.0					6																	1390509		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.327C>T	6.37:g.1390509C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGJ1|Q9UQ85	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.I109	ENST00000259806.1	37	c.327	CCDS4472.1	6																																																																																			FOXF2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000137273		0.726	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXF2	HGNC	protein_coding	OTTHUMT00000043558.1	31	0.00	0	C			1390509	1390509	+1	no_errors	ENST00000259806	ensembl	human	known	69_37n	silent	51	12.07	7	SNP	1.000	T
FRG1	2483	genome.wustl.edu	37	4	190882150	190882150	+	Intron	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:190882150G>A	ENST00000226798.4	+	7	851				FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1						mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		ttgagcccaggagttcaaggc	0.507																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.629+156G>A	4.37:g.190882150G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K775	RNA	SNP	-	NULL	ENST00000226798.4	37	NULL	CCDS34121.1	4																																																																																			FRG1	-	-	ENSG00000109536		0.507	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FRG1	HGNC	protein_coding	OTTHUMT00000359622.4	13	0.00	0	G	NM_004477		190882150	190882150	+1	no_errors	ENST00000514482	ensembl	human	known	69_37n	rna	7	41.67	5	SNP	0.000	A
FRMD6	122786	genome.wustl.edu	37	14	52169259	52169259	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:52169259C>T	ENST00000344768.5	+	5	520	c.324C>T	c.(322-324)atC>atT	p.I108I	FRMD6_ENST00000395718.2_Silent_p.I100I|FRMD6_ENST00000554167.1_Silent_p.I31I|FRMD6_ENST00000356218.4_Silent_p.I100I			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	108	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CTCCTATGATCATCCACTTCC	0.408																																						dbGAP											0													213.0	219.0	217.0					14																	52169259		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.324C>T	14.37:g.52169259C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.I108	ENST00000344768.5	37	c.324	CCDS58318.1	14																																																																																			FRMD6	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000139926		0.408	FRMD6-002	KNOWN	basic|CCDS	protein_coding	FRMD6	HGNC	protein_coding	OTTHUMT00000276881.1	48	0.00	0	C	NM_152330		52169259	52169259	+1	no_errors	ENST00000344768	ensembl	human	known	69_37n	silent	42	14.29	7	SNP	1.000	T
FZD1	8321	genome.wustl.edu	37	7	90895958	90895958	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:90895958G>A	ENST00000287934.2	+	1	2176	c.1763G>A	c.(1762-1764)gGa>gAa	p.G588E		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	588					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CAGGCGGGCGGAGGCGCCCCG	0.637																																						dbGAP											0													20.0	21.0	21.0					7																	90895958		2199	4296	6495	-	-	-	SO:0001583	missense	0			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1763G>A	7.37:g.90895958G>A	ENSP00000287934:p.Gly588Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.G588E	ENST00000287934.2	37	c.1763	CCDS5620.1	7	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029134	0.35797	.	.	ENSG00000157240	ENST00000287934	T	0.76316	-1.01	4.52	3.63	0.41609	GPCR, family 2-like (1);	0.000000	0.38837	N	0.001547	T	0.61640	0.2363	N	0.19112	0.55	0.31908	N	0.615107	B	0.09022	0.002	B	0.11329	0.006	T	0.62487	-0.6844	10	0.44086	T	0.13	.	8.6085	0.33789	0.1059:0.0:0.8941:0.0	.	588	Q9UP38	FZD1_HUMAN	E	588	ENSP00000287934:G588E	ENSP00000287934:G588E	G	+	2	0	FZD1	90733894	0.994000	0.37717	0.839000	0.33178	0.985000	0.73830	2.549000	0.45803	1.249000	0.43950	0.655000	0.94253	GGA	FZD1	-	pfam_Frizzled,pfscan_GPCR_2-like	ENSG00000157240		0.637	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD1	HGNC	protein_coding	OTTHUMT00000059367.2	37	0.00	0	G	NM_003505		90895958	90895958	+1	no_errors	ENST00000287934	ensembl	human	known	69_37n	missense	37	15.91	7	SNP	0.839	A
FZD7	8324	genome.wustl.edu	37	2	202899454	202899454	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:202899454G>A	ENST00000286201.1	+	1	145	c.84G>A	c.(82-84)gcG>gcA	p.A28A	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	28					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CACTGTCCGCGGGCGCCGGGG	0.736																																						dbGAP											0													36.0	37.0	37.0					2																	202899454		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.84G>A	2.37:g.202899454G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O94816|Q53S59|Q96B74	Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.A28	ENST00000286201.1	37	c.84	CCDS2351.1	2																																																																																			FZD7	-	NULL	ENSG00000155760		0.736	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD7	HGNC	protein_coding	OTTHUMT00000256314.1	18	0.00	0	G	NM_003507		202899454	202899454	+1	no_errors	ENST00000286201	ensembl	human	known	69_37n	silent	20	28.57	8	SNP	0.087	A
FZD7	8324	genome.wustl.edu	37	2	202899764	202899764	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:202899764G>A	ENST00000286201.1	+	1	455	c.394G>A	c.(394-396)Gag>Aag	p.E132K	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	132	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CCAGGGCTGCGAGGCGCTCAT	0.657											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													52.0	59.0	57.0					2																	202899764		2203	4297	6500	-	-	-	SO:0001583	missense	0			AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.394G>A	2.37:g.202899764G>A	ENSP00000286201:p.Glu132Lys	Somatic	2133	WXS	Illumina GAIIx	Phase_IV	O94816|Q53S59|Q96B74	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.E132K	ENST00000286201.1	37	c.394	CCDS2351.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.292620	0.95546	.	.	ENSG00000155760	ENST00000286201	T	0.76316	-1.01	5.31	5.31	0.75309	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.83408	0.5248	L	0.48260	1.515	0.80722	D	1	D	0.56968	0.978	P	0.60886	0.88	T	0.82366	-0.0493	10	0.39692	T	0.17	.	18.9805	0.92754	0.0:0.0:1.0:0.0	.	132	O75084	FZD7_HUMAN	K	132	ENSP00000286201:E132K	ENSP00000286201:E132K	E	+	1	0	FZD7	202608009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.742000	0.74843	2.485000	0.83878	0.467000	0.42956	GAG	FZD7	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000155760		0.657	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD7	HGNC	protein_coding	OTTHUMT00000256314.1	39	0.00	0	G	NM_003507		202899764	202899764	+1	no_errors	ENST00000286201	ensembl	human	known	69_37n	missense	62	10.14	7	SNP	1.000	A
GABRA3	2556	genome.wustl.edu	37	X	151366132	151366132	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:151366132C>G	ENST00000370314.4	-	8	1142	c.904G>C	c.(904-906)Gag>Cag	p.E302Q	GABRA3_ENST00000535043.1_Missense_Mutation_p.E302Q	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	302					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGAACAGACTCTCTGTTGAGC	0.458																																					NSCLC(142;2578 2613 10251 16743)	dbGAP											0													170.0	128.0	142.0					X																	151366132		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.904G>C	X.37:g.151366132C>G	ENSP00000359337:p.Glu302Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TAF9	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.E302Q	ENST00000370314.4	37	c.904	CCDS14706.1	X	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569887	0.86542	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	D;D;D	0.87412	-2.25;-2.25;-2.25	4.98	4.98	0.66077	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93216	0.7839	M	0.81614	2.55	0.58432	D	0.999999	D	0.69078	0.997	D	0.81914	0.995	D	0.94168	0.7420	10	0.87932	D	0	.	14.6645	0.68896	0.0:1.0:0.0:0.0	.	302	P34903	GBRA3_HUMAN	Q	302	ENSP00000359337:E302Q;ENSP00000359334:E302Q;ENSP00000443527:E302Q	ENSP00000359334:E302Q	E	-	1	0	GABRA3	151116788	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.770000	0.85390	2.043000	0.60533	0.538000	0.68166	GAG	GABRA3	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000011677		0.458	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA3	HGNC	protein_coding	OTTHUMT00000060921.1	29	0.00	0	C	NM_000808		151366132	151366132	-1	no_errors	ENST00000370311	ensembl	human	known	69_37n	missense	40	16.67	8	SNP	1.000	G
GAK	2580	genome.wustl.edu	37	4	860255	860255	+	Silent	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:860255G>C	ENST00000314167.4	-	22	3050	c.2940C>G	c.(2938-2940)ctC>ctG	p.L980L	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Silent_p.L901L	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	980					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		ATTCGCCGAAGAGATCAGGAT	0.627																																						dbGAP											0													88.0	85.0	86.0					4																	860255		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2940C>G	4.37:g.860255G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5U4P5|Q9BVY6	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N	p.S92C	ENST00000314167.4	37	c.275	CCDS3340.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.995|0.995	-0.692756|-0.692756	0.03303|0.03303	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000510799|ENST00000511980	T|.	0.54071|.	0.59|.	5.14|5.14	0.884|0.884	0.19182|0.19182	.|.	0.071090|.	0.64402|.	D|.	0.000019|.	T|T	0.54631|0.54631	0.1870|0.1870	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44817|0.44817	-0.9303|-0.9303	7|4	0.87932|.	D|.	0|.	-39.6008|-39.6008	7.7008|7.7008	0.28621|0.28621	0.1657:0.3996:0.4347:0.0|0.1657:0.3996:0.4347:0.0	.|.	.|.	.|.	.|.	V|C	100|92	ENSP00000426062:L100V|.	ENSP00000426062:L100V|.	L|S	-|-	1|2	0|0	GAK|GAK	850255|850255	0.999000|0.999000	0.42202|0.42202	0.367000|0.367000	0.25926|0.25926	0.088000|0.088000	0.18126|0.18126	0.329000|0.329000	0.19698|0.19698	0.148000|0.148000	0.19059|0.19059	0.561000|0.561000	0.74099|0.74099	CTT|TCT	GAK	-	NULL	ENSG00000178950		0.627	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAK	HGNC	protein_coding	OTTHUMT00000239188.1	40	0.00	0	G	NM_005255		860255	860255	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000511980	ensembl	human	novel	69_37n	missense	35	10.26	4	SNP	0.971	C
GALNT14	79623	genome.wustl.edu	37	2	31165121	31165121	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:31165121C>G	ENST00000349752.5	-	9	1516	c.877G>C	c.(877-879)Gat>Cat	p.D293H	GALNT14_ENST00000406653.1_Missense_Mutation_p.D273H|GALNT14_ENST00000324589.5_Missense_Mutation_p.D298H|GALNT14_ENST00000356174.3_Missense_Mutation_p.D260H|GALNT14_ENST00000420311.2_Missense_Mutation_p.D258H|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	293	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CCCAGGTAATCAAACCAAGCT	0.493																																						dbGAP											0													144.0	131.0	135.0					2																	31165121		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.877G>C	2.37:g.31165121C>G	ENSP00000288988:p.Asp293His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.D293H	ENST00000349752.5	37	c.877	CCDS1773.2	2	.	.	.	.	.	.	.	.	.	.	C	10.04	1.240269	0.22711	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17	4.92	-3.65	0.04502	.	0.361510	0.29646	N	0.011570	T	0.30634	0.0771	N	0.10809	0.05	0.33993	D	0.649409	P;P;P;P;P	0.46912	0.708;0.573;0.886;0.544;0.845	P;B;B;B;P	0.47206	0.459;0.23;0.428;0.285;0.541	T	0.48864	-0.8997	10	0.15952	T	0.53	.	3.2744	0.06893	0.1327:0.1502:0.1327:0.5844	.	258;260;298;293;273	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	H	293;298;273;260;258;260	ENSP00000288988:D293H;ENSP00000314500:D298H;ENSP00000385435:D273H;ENSP00000348497:D260H;ENSP00000415514:D258H;ENSP00000406399:D260H	ENSP00000314500:D298H	D	-	1	0	GALNT14	31018625	0.707000	0.27866	0.201000	0.23476	0.006000	0.05464	0.356000	0.20181	-0.614000	0.05687	-0.150000	0.13652	GAT	GALNT14	-	NULL	ENSG00000158089		0.493	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	HGNC	protein_coding	OTTHUMT00000157264.1	43	0.00	0	C	NM_024572		31165121	31165121	-1	no_errors	ENST00000349752	ensembl	human	known	69_37n	missense	34	19.05	8	SNP	0.958	G
GANAB	23193	genome.wustl.edu	37	11	62397082	62397082	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:62397082G>C	ENST00000356638.3	-	15	1828	c.1812C>G	c.(1810-1812)ttC>ttG	p.F604L	GANAB_ENST00000346178.4_Missense_Mutation_p.F626L|GANAB_ENST00000540933.1_Missense_Mutation_p.F507L|GANAB_ENST00000534779.1_Missense_Mutation_p.F512L	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	604					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	AGCCAGCGAAGAAGGCCCTGG	0.602																																					Melanoma(23;1005 1074 15747 18937)	dbGAP											0													37.0	37.0	37.0					11																	62397082		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1812C>G	11.37:g.62397082G>C	ENSP00000349053:p.Phe604Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.F626L	ENST00000356638.3	37	c.1878	CCDS8026.1	11	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964760	0.74131	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11	5.31	4.4	0.53042	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94518	0.8235	M	0.77486	2.375	0.58432	D	0.999998	P;P;P;P	0.49961	0.93;0.93;0.847;0.675	P;P;P;B	0.57371	0.819;0.819;0.599;0.43	D	0.94699	0.7881	10	0.72032	D	0.01	-9.594	11.7855	0.52039	0.0843:0.0:0.9157:0.0	.	490;512;604;626	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	L	626;604;512;507	ENSP00000340466:F626L;ENSP00000349053:F604L;ENSP00000435306:F512L;ENSP00000442962:F507L	ENSP00000340466:F626L	F	-	3	2	GANAB	62153658	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	5.533000	0.67160	1.493000	0.48517	-0.140000	0.14226	TTC	GANAB	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000089597		0.602	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GANAB	HGNC	protein_coding	OTTHUMT00000395689.1	34	0.00	0	G	NM_198334		62397082	62397082	-1	no_errors	ENST00000346178	ensembl	human	known	69_37n	missense	34	27.66	13	SNP	1.000	C
GAS1	2619	genome.wustl.edu	37	9	89560990	89560990	+	Silent	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:89560990G>C	ENST00000298743.7	-	1	1114	c.705C>G	c.(703-705)gtC>gtG	p.V235V	RP11-276H19.1_ENST00000415801.1_lincRNA	NM_002048.2	NP_002039.2	P54826	GAS1_HUMAN	growth arrest-specific 1	235					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cerebellum morphogenesis (GO:0021587)|developmental growth (GO:0048589)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|eye morphogenesis (GO:0048592)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein processing (GO:0010955)|negative regulation of smoothened signaling pathway (GO:0045879)|odontogenesis (GO:0042476)|outer ear morphogenesis (GO:0042473)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|programmed cell death (GO:0012501)|regulation of apoptotic process (GO:0042981)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|regulation of smoothened signaling pathway (GO:0008589)	anchored component of plasma membrane (GO:0046658)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|lung(2)|skin(1)	4						TGTTCTCCTTGACCGACTCGC	0.672																																						dbGAP											0													20.0	21.0	21.0					9																	89560990		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0				CCDS6674.1	9q21.3-q22	2008-07-21			ENSG00000180447	ENSG00000180447			4165	protein-coding gene	gene with protein product	"""Growth arrest-specific gene-1"""	139185				8307588	Standard	NM_002048		Approved		uc004aox.4	P54826	OTTHUMG00000020141	ENST00000298743.7:c.705C>G	9.37:g.89560990G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGM4|Q6B086	Silent	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1	p.V235	ENST00000298743.7	37	c.705	CCDS6674.1	9																																																																																			GAS1	-	pfam_GDNF/GAS1,smart_GDNF/GAS1	ENSG00000180447		0.672	GAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS1	HGNC	protein_coding	OTTHUMT00000052928.1	19	0.00	0	G	NM_002048		89560990	89560990	-1	no_errors	ENST00000298743	ensembl	human	known	69_37n	silent	20	16.67	4	SNP	1.000	C
GBF1	8729	genome.wustl.edu	37	10	104129471	104129471	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr10:104129471G>A	ENST00000369983.3	+	25	3411	c.3151G>A	c.(3151-3153)Gaa>Aaa	p.E1051K		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1051					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TTTCCAGGTAGAAGATTTCGT	0.493																																						dbGAP											0													94.0	95.0	94.0					10																	104129471		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.3151G>A	10.37:g.104129471G>A	ENSP00000359000:p.Glu1051Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.E1051K	ENST00000369983.3	37	c.3151	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948366	0.92593	.	.	ENSG00000107862	ENST00000369983	T	0.12774	2.65	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.45696	0.1355	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.993	D;D;D	0.87578	0.998;0.997;0.971	T	0.44329	-0.9335	10	0.37606	T	0.19	-13.5702	19.0551	0.93059	0.0:0.0:1.0:0.0	.	1051;1051;1051	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	K	1051	ENSP00000359000:E1051K	ENSP00000359000:E1051K	E	+	1	0	GBF1	104119461	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.657000	0.98554	2.730000	0.93505	0.655000	0.94253	GAA	GBF1	-	NULL	ENSG00000107862		0.493	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	30	0.00	0	G			104129471	104129471	+1	no_errors	ENST00000369983	ensembl	human	known	69_37n	missense	25	24.24	8	SNP	1.000	A
GEN1	348654	genome.wustl.edu	37	2	17962027	17962027	+	Silent	SNP	A	A	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:17962027A>C	ENST00000381254.2	+	14	1762	c.1548A>C	c.(1546-1548)acA>acC	p.T516T	GEN1_ENST00000317402.7_Silent_p.T516T|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	516					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGATCCTACATTACCACAGG	0.368								Homologous recombination																														dbGAP											0													89.0	85.0	87.0					2																	17962027		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1548A>C	2.37:g.17962027A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RS9|Q6ZN37	Silent	SNP	pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair	p.T516	ENST00000381254.2	37	c.1548	CCDS1691.1	2																																																																																			GEN1	-	NULL	ENSG00000178295		0.368	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GEN1	HGNC	protein_coding	OTTHUMT00000241661.2	42	0.00	0	A	NM_182625		17962027	17962027	+1	no_errors	ENST00000317402	ensembl	human	known	69_37n	silent	30	26.83	11	SNP	0.000	C
GFRA2	2675	genome.wustl.edu	37	8	21560387	21560387	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:21560387G>C	ENST00000524240.1	-	7	1798	c.1148C>G	c.(1147-1149)tCt>tGt	p.S383C	GFRA2_ENST00000400782.4_Missense_Mutation_p.S278C|GFRA2_ENST00000518077.1_Missense_Mutation_p.S250C|GFRA2_ENST00000517328.1_Missense_Mutation_p.S383C	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	383					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		ATCTGGCAAAGAAGGCGTCTT	0.627																																						dbGAP											0													85.0	93.0	90.0					8																	21560387		2083	4192	6275	-	-	-	SO:0001583	missense	0			AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.1148C>G	8.37:g.21560387G>C	ENSP00000428518:p.Ser383Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2	p.S383C	ENST00000524240.1	37	c.1148	CCDS47816.1	8	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865710	0.71949	.	.	ENSG00000168546	ENST00000524240;ENST00000400782;ENST00000517328;ENST00000518077;ENST00000517892	T;T;T;T;T	0.33438	1.84;1.42;1.84;1.41;1.42	4.88	4.88	0.63580	.	0.268132	0.36591	N	0.002508	T	0.47764	0.1463	L	0.54323	1.7	0.39401	D	0.966598	D;D;D	0.71674	0.998;0.997;0.98	D;P;P	0.63113	0.911;0.817;0.533	T	0.46034	-0.9220	10	0.46703	T	0.11	-13.8468	15.3085	0.74011	0.0:0.0:1.0:0.0	.	250;278;383	O00451-2;E9PD47;O00451	.;.;GFRA2_HUMAN	C	383;278;383;250;278	ENSP00000428518:S383C;ENSP00000383592:S278C;ENSP00000429445:S383C;ENSP00000429206:S250C;ENSP00000429979:S278C	ENSP00000383592:S278C	S	-	2	0	GFRA2	21604667	0.980000	0.34600	1.000000	0.80357	0.949000	0.60115	2.840000	0.48215	2.411000	0.81874	0.561000	0.74099	TCT	GFRA2	-	pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt_a2	ENSG00000168546		0.627	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFRA2	HGNC	protein_coding	OTTHUMT00000376254.3	74	0.00	0	G	NM_001495		21560387	21560387	-1	no_errors	ENST00000517328	ensembl	human	known	69_37n	missense	54	16.92	11	SNP	0.999	C
GID8	54994	genome.wustl.edu	37	20	61572857	61572857	+	Start_Codon_SNP	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:61572857G>A	ENST00000266069.3	+	2	150	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_017896.2	NP_060366.1	Q9NWU2	GID8_HUMAN	GID complex subunit 8	1						cell junction (GO:0030054)|nucleus (GO:0005634)											AAATCAGAATGAGTTATGCAG	0.468																																						dbGAP											0													71.0	70.0	71.0					20																	61572857		2203	4300	6503	-	-	-	SO:0001582	initiator_codon_variant	0			AK000609	CCDS13510.1	20q13.33	2013-07-31	2013-07-31	2012-07-20	ENSG00000101193	ENSG00000101193			15857	protein-coding gene	gene with protein product		611625	"""chromosome 20 open reading frame 11"", ""GID complex subunit 8 homolog (S. cerevisiae)"""	C20orf11		12559565	Standard	NM_017896		Approved	FLJ20602, bA305P22.1, TWA1	uc002ydy.3	Q9NWU2	OTTHUMG00000032949	ENST00000266069.3:c.3G>A	20.37:g.61572857G>A	ENSP00000266069:p.Met1Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5I3|Q8N5M5	Missense_Mutation	SNP	pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.M1I	ENST00000266069.3	37	c.3	CCDS13510.1	20	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933476	0.92458	.	.	ENSG00000101193	ENST00000266069;ENST00000412152	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.83055	0.5171	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.83115	-0.0121	8	0.54805	T	0.06	-31.6553	19.9936	0.97376	0.0:0.0:1.0:0.0	.	1	Q9NWU2	CT011_HUMAN	I	1	.	ENSP00000266069:M1I	M	+	3	0	C20orf11	61043302	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.236000	0.95360	2.733000	0.93635	0.603000	0.83216	ATG	GID8	-	NULL	ENSG00000101193		0.468	GID8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GID8	HGNC	protein_coding	OTTHUMT00000080097.2	35	0.00	0	G	NM_017896	Missense_Mutation	61572857	61572857	+1	no_errors	ENST00000266069	ensembl	human	known	69_37n	missense	42	10.64	5	SNP	1.000	A
GJB4	127534	genome.wustl.edu	37	1	35227498	35227498	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:35227498G>A	ENST00000339480.1	+	2	1013	c.643G>A	c.(643-645)Gag>Aag	p.E215K	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	215					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GAGGTGCATGGAGATCTTCGG	0.602																																						dbGAP											0													72.0	66.0	68.0					1																	35227498		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.643G>A	1.37:g.35227498G>A	ENSP00000345868:p.Glu215Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ82	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin303	p.E215K	ENST00000339480.1	37	c.643	CCDS383.1	1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889518	0.33348	.	.	ENSG00000189433	ENST00000339480	D	0.97665	-4.48	5.5	4.58	0.56647	.	0.119657	0.53938	D	0.000041	D	0.92397	0.7587	L	0.34521	1.04	0.32314	N	0.563325	B	0.13145	0.007	B	0.12156	0.007	D	0.86594	0.1862	10	0.07482	T	0.82	.	10.1913	0.43028	0.1619:0.0:0.8381:0.0	.	215	Q9NTQ9	CXB4_HUMAN	K	215	ENSP00000345868:E215K	ENSP00000345868:E215K	E	+	1	0	GJB4	35000085	0.006000	0.16342	0.997000	0.53966	0.948000	0.59901	0.584000	0.23864	1.331000	0.45412	0.556000	0.70494	GAG	GJB4	-	NULL	ENSG00000189433		0.602	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB4	HGNC	protein_coding	OTTHUMT00000011560.1	48	0.00	0	G	NM_153212		35227498	35227498	+1	no_errors	ENST00000339480	ensembl	human	known	69_37n	missense	49	14.04	8	SNP	0.874	A
GLE1	2733	genome.wustl.edu	37	9	131296228	131296228	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:131296228G>A	ENST00000309971.4	+	11	1750	c.1644G>A	c.(1642-1644)caG>caA	p.Q548Q	GLE1_ENST00000372770.4_Silent_p.Q548Q|RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_Silent_p.Q294Q	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	548					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						AAGACTATCAGAGGTAAAGTT	0.403																																						dbGAP											0													122.0	112.0	116.0					9																	131296228		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"""GLE1 (yeast homolog)-like, RNA export mediator"", ""GLE1 RNA export mediator-like (yeast)"", ""GLE1 RNA export mediator (yeast)"", ""lethal congenital contracture syndrome 1"", ""GLE1 RNA export mediator homolog (yeast)"""	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1644G>A	9.37:g.131296228G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Silent	SNP	pfam_GLE1	p.Q548	ENST00000309971.4	37	c.1644	CCDS35154.1	9																																																																																			GLE1	-	pfam_GLE1	ENSG00000119392		0.403	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLE1	HGNC	protein_coding	OTTHUMT00000054456.1	56	0.00	0	G	NM_001003722		131296228	131296228	+1	no_errors	ENST00000309971	ensembl	human	known	69_37n	silent	51	15.00	9	SNP	1.000	A
GLYR1	84656	genome.wustl.edu	37	16	4882060	4882060	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:4882060C>T	ENST00000321919.9	-	5	533	c.457G>A	c.(457-459)Gag>Aag	p.E153K	GLYR1_ENST00000591451.1_Missense_Mutation_p.E153K|GLYR1_ENST00000381983.3_Missense_Mutation_p.E153K|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000436648.5_Intron	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	153					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						GAGCCTCTCTCTGAAGAGCCT	0.527																																						dbGAP											0													123.0	120.0	121.0					16																	4882060		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.457G>A	16.37:g.4882060C>T	ENSP00000322716:p.Glu153Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP	p.E153K	ENST00000321919.9	37	c.457	CCDS10524.1	16	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592957	0.46214	.	.	ENSG00000140632	ENST00000321919;ENST00000381983	T;T	0.63255	-0.03;-0.03	5.29	5.29	0.74685	.	0.102964	0.64402	D	0.000003	T	0.61540	0.2355	N	0.14661	0.345	0.38083	D	0.93673	P;P;P	0.37398	0.593;0.593;0.458	P;P;P	0.57846	0.828;0.828;0.678	T	0.55321	-0.8159	10	0.08381	T	0.77	-19.5841	16.2144	0.82195	0.0:1.0:0.0:0.0	.	153;153;153	Q49A26-3;Q49A26-2;Q49A26	.;.;GLYR1_HUMAN	K	153	ENSP00000322716:E153K;ENSP00000371413:E153K	ENSP00000322716:E153K	E	-	1	0	GLYR1	4822061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.032000	0.64140	2.634000	0.89283	0.650000	0.86243	GAG	GLYR1	-	NULL	ENSG00000140632		0.527	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLYR1	HGNC	protein_coding	OTTHUMT00000251717.2	61	0.00	0	C	NM_032569		4882060	4882060	-1	no_errors	ENST00000321919	ensembl	human	known	69_37n	missense	52	28.77	21	SNP	1.000	T
WLS	79971	genome.wustl.edu	37	1	68564475	68564475	+	Intron	SNP	C	C	A	rs148592645	byFrequency	TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:68564475C>A	ENST00000354777.2	-	12	1756				GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000540432.1_Intron	NM_001002292.3	NP_001002292.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator						anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						tgcaaaatatccttttaaaaa	0.308																																						dbGAP											0													31.0	30.0	30.0					1																	68564475		2203	4298	6501	-	-	-	SO:0001627	intron_variant	0			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000354777.2:c.1511-39G>T	1.37:g.68564475C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	RNA	SNP	-	NULL	ENST00000354777.2	37	NULL	CCDS30750.1	1																																																																																			GNG12-AS1	-	-	ENSG00000232284		0.308	WLS-003	KNOWN	basic|CCDS	protein_coding	GNG12-AS1	HGNC	protein_coding	OTTHUMT00000025370.1	13	0.00	0	C	NM_024911		68564475	68564475	+1	no_errors	ENST00000413628	ensembl	human	known	69_37n	rna	5	58.33	7	SNP	0.008	A
GOLGA1	2800	genome.wustl.edu	37	9	127689006	127689006	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:127689006C>T	ENST00000373555.4	-	7	747	c.414G>A	c.(412-414)aaG>aaA	p.K138K		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	138					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GCTGATCCATCTTTTCTGACC	0.343																																						dbGAP											0													109.0	111.0	110.0					9																	127689006		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.414G>A	9.37:g.127689006C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T164|Q8IYZ9	Silent	SNP	pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP	p.K138	ENST00000373555.4	37	c.414	CCDS6860.1	9																																																																																			GOLGA1	-	NULL	ENSG00000136935		0.343	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA1	HGNC	protein_coding	OTTHUMT00000054049.1	20	0.00	0	C	NM_002077		127689006	127689006	-1	no_errors	ENST00000373555	ensembl	human	known	69_37n	silent	11	26.67	4	SNP	0.744	T
GON4L	54856	genome.wustl.edu	37	1	155733174	155733174	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:155733174G>C	ENST00000368331.1	-	22	4703	c.4655C>G	c.(4654-4656)tCt>tGt	p.S1552C	GON4L_ENST00000271883.5_Missense_Mutation_p.S1552C|GON4L_ENST00000437809.1_Missense_Mutation_p.S1552C|GON4L_ENST00000471341.1_5'Flank	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1552	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTTCTCAGCAGAGTCTCCAAC	0.502																																						dbGAP											0													50.0	52.0	51.0					1																	155733174		1982	4176	6158	-	-	-	SO:0001583	missense	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4655C>G	1.37:g.155733174G>C	ENSP00000357315:p.Ser1552Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.S1552C	ENST00000368331.1	37	c.4655		1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484280	0.44147	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.10668	2.85;2.85;2.85	4.93	1.79	0.24919	.	1.166730	0.06265	N	0.694562	T	0.01905	0.0060	N	0.08118	0	0.09310	N	1	P;P;P	0.39964	0.571;0.571;0.697	B;B;B	0.39904	0.246;0.166;0.313	T	0.40553	-0.9557	10	0.66056	D	0.02	.	4.0221	0.09670	0.0901:0.287:0.4752:0.1477	.	748;1552;1552	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	C	1552	ENSP00000396117:S1552C;ENSP00000357315:S1552C;ENSP00000271883:S1552C	ENSP00000271883:S1552C	S	-	2	0	GON4L	153999798	0.000000	0.05858	0.001000	0.08648	0.467000	0.32768	-0.002000	0.12924	0.185000	0.20105	0.561000	0.74099	TCT	GON4L	-	NULL	ENSG00000116580		0.502	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		97	0.00	0	G	NM_032292		155733174	155733174	-1	no_errors	ENST00000368331	ensembl	human	known	69_37n	missense	71	28.71	29	SNP	0.003	C
GON4L	54856	genome.wustl.edu	37	1	155823271	155823271	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:155823271G>A	ENST00000368331.1	-	2	349	c.301C>T	c.(301-303)Cag>Tag	p.Q101*	GON4L_ENST00000271883.5_Nonsense_Mutation_p.Q101*|GON4L_ENST00000437809.1_Nonsense_Mutation_p.Q101*|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Nonsense_Mutation_p.Q101*	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	101					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTGATTCCCTGAGAGATGGCC	0.443																																						dbGAP											0													174.0	162.0	166.0					1																	155823271		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.301C>T	1.37:g.155823271G>A	ENSP00000357315:p.Gln101*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Nonsense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.Q101*	ENST00000368331.1	37	c.301		1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785221	0.90282	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	.	.	.	4.48	3.55	0.40652	.	0.169473	0.28683	N	0.014493	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.5912	0.39548	0.0:0.0:0.7907:0.2092	.	.	.	.	X	101	.	ENSP00000271883:Q101X	Q	-	1	0	GON4L	154089895	1.000000	0.71417	0.996000	0.52242	0.588000	0.36517	2.676000	0.46883	1.061000	0.40601	0.561000	0.74099	CAG	GON4L	-	NULL	ENSG00000116580		0.443	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		67	0.00	0	G	NM_032292		155823271	155823271	-1	no_errors	ENST00000368331	ensembl	human	known	69_37n	nonsense	69	10.39	8	SNP	1.000	A
GORAB	92344	genome.wustl.edu	37	1	170508668	170508668	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:170508668C>T	ENST00000367763.3	+	2	474	c.454C>T	c.(454-456)Cca>Tca	p.P152S	GORAB_ENST00000367762.1_Missense_Mutation_p.P152S|GORAB_ENST00000465717.1_3'UTR	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	152						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GATTCTACCTCCAAAGCCAGA	0.418																																						dbGAP											0													62.0	63.0	63.0					1																	170508668		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"""gerodermia osteodysplastica"""	607983	"""SCY1-like 1 binding protein 1"""	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.454C>T	1.37:g.170508668C>T	ENSP00000356737:p.Pro152Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Missense_Mutation	SNP	pfam_Golgin_RAB6-interacting	p.P152S	ENST00000367763.3	37	c.454	CCDS1289.1	1	.	.	.	.	.	.	.	.	.	.	C	8.736	0.917740	0.17982	.	.	ENSG00000120370	ENST00000367763;ENST00000367762	T;T	0.62498	0.02;0.02	5.51	4.57	0.56435	.	0.382363	0.32204	N	0.006421	T	0.33294	0.0858	L	0.39245	1.2	0.38354	D	0.944416	B	0.13145	0.007	B	0.15870	0.014	T	0.22103	-1.0226	10	0.35671	T	0.21	-5.5083	8.8517	0.35203	0.0:0.8217:0.0:0.1783	.	152	Q5T7V8	GORAB_HUMAN	S	152	ENSP00000356737:P152S;ENSP00000356736:P152S	ENSP00000356736:P152S	P	+	1	0	GORAB	168775292	0.801000	0.28930	0.988000	0.46212	0.021000	0.10359	0.657000	0.24963	1.250000	0.43966	0.585000	0.79938	CCA	GORAB	-	NULL	ENSG00000120370		0.418	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GORAB	HGNC	protein_coding	OTTHUMT00000085226.1	51	0.00	0	C	NM_152281		170508668	170508668	+1	no_errors	ENST00000367763	ensembl	human	known	69_37n	missense	56	16.42	11	SNP	0.999	T
GPR112	139378	genome.wustl.edu	37	X	135429149	135429149	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:135429149C>T	ENST00000394143.1	+	6	3575	c.3284C>T	c.(3283-3285)tCt>tTt	p.S1095F	GPR112_ENST00000394141.1_Missense_Mutation_p.S890F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1095F|GPR112_ENST00000287534.4_Missense_Mutation_p.S1032F|GPR112_ENST00000412101.1_Missense_Mutation_p.S890F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1095					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACGGTAATCTCTGTCAGGAAG	0.488																																						dbGAP											0													174.0	153.0	160.0					X																	135429149		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3284C>T	X.37:g.135429149C>T	ENSP00000377699:p.Ser1095Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S1095F	ENST00000394143.1	37	c.3284	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986442	0.35036	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.41065	1.05;1.05;1.01;1.12;1.01	2.82	0.944	0.19537	.	.	.	.	.	T	0.46347	0.1388	L	0.32530	0.975	0.09310	N	1	D;D;D	0.69078	0.997;0.997;0.995	D;D;D	0.78314	0.991;0.991;0.979	T	0.24368	-1.0162	9	0.87932	D	0	.	4.0762	0.09906	0.0:0.6206:0.0:0.3794	.	1032;890;1095	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	F	1095;1095;890;1032;890	ENSP00000377699:S1095F;ENSP00000359686:S1095F;ENSP00000416526:S890F;ENSP00000287534:S1032F;ENSP00000377697:S890F	ENSP00000287534:S1032F	S	+	2	0	GPR112	135256815	0.025000	0.19082	0.004000	0.12327	0.071000	0.16799	1.100000	0.31025	0.357000	0.24183	0.436000	0.28706	TCT	GPR112	-	NULL	ENSG00000156920		0.488	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	43	0.00	0	C			135429149	135429149	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	missense	45	25.00	15	SNP	0.006	T
GPR124	25960	genome.wustl.edu	37	8	37690590	37690590	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:37690590C>T	ENST00000412232.2	+	9	1173	c.1160C>T	c.(1159-1161)tCa>tTa	p.S387L	GPR124_ENST00000315215.7_Missense_Mutation_p.S387L	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	387					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCCTTCACCTCAGTGCCCCTG	0.692																																						dbGAP											0													80.0	89.0	86.0					8																	37690590		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1160C>T	8.37:g.37690590C>T	ENSP00000406367:p.Ser387Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.S387L	ENST00000412232.2	37	c.1160	CCDS6097.2	8	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883017	0.72410	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.64991	-0.13;-0.13	4.9	4.9	0.64082	GPCR, family 2, extracellular hormone receptor domain (2);	0.000000	0.64402	D	0.000001	T	0.74898	0.3777	L	0.51422	1.61	0.58432	D	0.999993	D;D	0.89917	0.995;1.0	D;D	0.91635	0.946;0.999	T	0.76523	-0.2928	10	0.54805	T	0.06	-10.9664	17.0809	0.86598	0.0:1.0:0.0:0.0	.	387;387	Q96PE1-2;Q96PE1	.;GP124_HUMAN	L	380;387;387	ENSP00000323508:S387L;ENSP00000406367:S387L	ENSP00000323508:S387L	S	+	2	0	GPR124	37809748	0.979000	0.34478	0.928000	0.36995	0.579000	0.36224	4.832000	0.62759	2.262000	0.75019	0.655000	0.94253	TCA	GPR124	-	pfam_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom	ENSG00000020181		0.692	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR124	HGNC	protein_coding	OTTHUMT00000343331.2	49	0.00	0	C			37690590	37690590	+1	no_errors	ENST00000412232	ensembl	human	known	69_37n	missense	65	14.47	11	SNP	0.998	T
GPR144	347088	genome.wustl.edu	37	9	127220493	127220493	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:127220493G>C	ENST00000334810.1	+	9	1663	c.1663G>C	c.(1663-1665)Gag>Cag	p.E555Q				Q7Z7M1	GP144_HUMAN	G protein-coupled receptor 144	555					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)	4						TGCCAGCTCAGAGGAGGCAAA	0.647																																						dbGAP											0													53.0	59.0	57.0					9																	127220493		692	1591	2283	-	-	-	SO:0001583	missense	0			AY278562		9q34.11	2014-08-08			ENSG00000180264	ENSG00000180264		"""-"", ""GPCR / Class B : Orphans"""	18651	protein-coding gene	gene with protein product							Standard	XM_006710216		Approved	PGR24	uc010mwn.3	Q7Z7M1	OTTHUMG00000020652	ENST00000334810.1:c.1663G>C	9.37:g.127220493G>C	ENSP00000335156:p.Glu555Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86SL4|Q8NH12	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,prints_Pentaxin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E555Q	ENST00000334810.1	37	c.1663	CCDS48016.1	9	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459348	0.26248	.	.	ENSG00000180264	ENST00000334810;ENST00000439837	T	0.49720	0.77	4.44	1.35	0.21983	.	.	.	.	.	T	0.32194	0.0821	L	0.51422	1.61	0.09310	N	1	P	0.35272	0.493	B	0.29785	0.107	T	0.14420	-1.0473	9	0.15066	T	0.55	.	4.5931	0.12317	0.229:0.1882:0.5828:0.0	.	555	Q7Z7M1	GP144_HUMAN	Q	555;286	ENSP00000335156:E555Q	ENSP00000335156:E555Q	E	+	1	0	GPR144	126260314	0.184000	0.23200	0.001000	0.08648	0.006000	0.05464	2.216000	0.42871	0.368000	0.24481	0.561000	0.74099	GAG	GPR144	-	NULL	ENSG00000180264		0.647	GPR144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR144	HGNC	protein_coding	OTTHUMT00000054026.2	35	0.00	0	G	NM_182611		127220493	127220493	+1	no_errors	ENST00000334810	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	0.000	C
GPR89A	653519	genome.wustl.edu	37	1	145791155	145791155	+	Silent	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:145791155C>G	ENST00000313835.9	-	8	776	c.633G>C	c.(631-633)cgG>cgC	p.R211R	GPR89A_ENST00000478703.1_5'UTR|GPR89A_ENST00000462900.2_Silent_p.R186R|GPR89A_ENST00000454423.3_Silent_p.R91R|GPR89A_ENST00000534502.1_Silent_p.R186R			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	211					intracellular pH reduction (GO:0051452)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|regulation of anion transport (GO:0044070)|signal transduction (GO:0007165)	Golgi cisterna membrane (GO:0032580)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)|voltage-gated anion channel activity (GO:0008308)			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			ACATTGTTCTCCGTGCCATTG	0.443																																						dbGAP											0													1.0	1.0	1.0					1																	145791155		271	595	866	-	-	-	SO:0001819	synonymous_variant	0			AB097024	CCDS72857.1, CCDS72858.1	1q21.1	2008-12-17	2007-06-06	2007-06-06	ENSG00000117262	ENSG00000117262			31984	protein-coding gene	gene with protein product		612821					Standard	NM_001097612		Approved	UNQ192	uc001eot.2	B7ZAQ6	OTTHUMG00000013738	ENST00000313835.9:c.633G>C	1.37:g.145791155C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN37|B2RUV3|B3KMN3|B4DLT3|B4DXE7|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Silent	SNP	pfam_ABA_GPCR_dom,pfam_Golgi_pH-regulator_cons_dom	p.R211	ENST00000313835.9	37	c.633	CCDS41377.1	1																																																																																			GPR89A	-	NULL	ENSG00000117262		0.443	GPR89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR89A	HGNC	protein_coding	OTTHUMT00000038507.2	11	0.00	0	C	NM_001097612		145791155	145791155	-1	no_errors	ENST00000313835	ensembl	human	known	69_37n	silent	9	35.71	5	SNP	1.000	G
GPRASP2	114928	genome.wustl.edu	37	X	101971235	101971235	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:101971235G>A	ENST00000535209.1	+	4	2269	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	GPRASP2_ENST00000332262.5_Missense_Mutation_p.E480K|GPRASP2_ENST00000543253.1_Missense_Mutation_p.E480K			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	480						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGATGCAGCTGAGGAGCTTAA	0.522																																						dbGAP											0													116.0	107.0	110.0					X																	101971235		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1438G>A	X.37:g.101971235G>A	ENSP00000437394:p.Glu480Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DXA0|Q8NAB4	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.E480K	ENST00000535209.1	37	c.1438	CCDS14501.1	X	.	.	.	.	.	.	.	.	.	.	G	8.735	0.917690	0.17982	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.08546	3.08;3.08;3.08	4.52	4.52	0.55395	.	0.000000	0.47455	D	0.000222	T	0.10723	0.0262	M	0.72118	2.19	0.31483	N	0.666881	B	0.31680	0.335	B	0.30401	0.115	T	0.03306	-1.1050	10	0.19590	T	0.45	.	11.5131	0.50504	0.0:0.0:1.0:0.0	.	480	Q96D09	GASP2_HUMAN	K	480	ENSP00000437872:E480K;ENSP00000437394:E480K;ENSP00000339057:E480K	ENSP00000339057:E480K	E	+	1	0	GPRASP2	101857891	0.998000	0.40836	0.974000	0.42286	0.140000	0.21249	0.982000	0.29539	2.491000	0.84063	0.600000	0.82982	GAG	GPRASP2	-	NULL	ENSG00000158301		0.522	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP2	HGNC	protein_coding	OTTHUMT00000057626.2	62	0.00	0	G	NM_138437		101971235	101971235	+1	no_errors	ENST00000332262	ensembl	human	known	69_37n	missense	43	12.24	6	SNP	0.937	A
GRIA2	2891	genome.wustl.edu	37	4	158262534	158262534	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:158262534G>A	ENST00000264426.9	+	12	2242	c.1963G>A	c.(1963-1965)Gaa>Aaa	p.E655K	GRIA2_ENST00000507898.1_Missense_Mutation_p.E608K|GRIA2_ENST00000449365.1_Missense_Mutation_p.E608K|GRIA2_ENST00000393815.2_Missense_Mutation_p.E608K|GRIA2_ENST00000296526.7_Missense_Mutation_p.E655K	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	655					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GTCTCCCATCGAAAGTGCTGA	0.443																																						dbGAP											0													174.0	164.0	168.0					4																	158262534		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1963G>A	4.37:g.158262534G>A	ENSP00000264426:p.Glu655Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E655K	ENST00000264426.9	37	c.1963	CCDS43274.1	4	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044170	0.93685	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.53	5.53	0.82687	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.996;0.988	T	0.55761	-0.8090	10	0.87932	D	0	.	19.8241	0.96610	0.0:0.0:1.0:0.0	.	655;655;608	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	K	608;608;655;655;608	ENSP00000426845:E608K;ENSP00000377403:E608K;ENSP00000296526:E655K;ENSP00000264426:E655K;ENSP00000389837:E608K	ENSP00000264426:E655K	E	+	1	0	GRIA2	158481984	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.758000	0.94735	0.655000	0.94253	GAA	GRIA2	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000120251		0.443	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	HGNC	protein_coding	OTTHUMT00000258367.2	57	0.00	0	G			158262534	158262534	+1	no_errors	ENST00000264426	ensembl	human	known	69_37n	missense	45	13.46	7	SNP	1.000	A
GRIN2D	2906	genome.wustl.edu	37	19	48945552	48945552	+	Silent	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:48945552C>G	ENST00000263269.3	+	12	2674	c.2586C>G	c.(2584-2586)gtC>gtG	p.V862V		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	862					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCTGCTGGTCTTCGCCTGGG	0.622																																						dbGAP											0													119.0	116.0	117.0					19																	48945552		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2586C>G	19.37:g.48945552C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V862	ENST00000263269.3	37	c.2586	CCDS12719.1	19																																																																																			GRIN2D	-	prints_NMDA_rcpt	ENSG00000105464		0.622	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2D	HGNC	protein_coding	OTTHUMT00000466121.1	29	0.00	0	C			48945552	48945552	+1	no_errors	ENST00000263269	ensembl	human	known	69_37n	silent	51	17.74	11	SNP	1.000	G
GRIN2D	2906	genome.wustl.edu	37	19	48945555	48945555	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:48945555C>T	ENST00000263269.3	+	12	2677	c.2589C>T	c.(2587-2589)ttC>ttT	p.F863F		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	863					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGCTGGTCTTCGCCTGGGAGC	0.627																																						dbGAP											0													115.0	113.0	113.0					19																	48945555		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2589C>T	19.37:g.48945555C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.F863	ENST00000263269.3	37	c.2589	CCDS12719.1	19																																																																																			GRIN2D	-	prints_NMDA_rcpt	ENSG00000105464		0.627	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2D	HGNC	protein_coding	OTTHUMT00000466121.1	31	0.00	0	C			48945555	48945555	+1	no_errors	ENST00000263269	ensembl	human	known	69_37n	silent	50	18.03	11	SNP	1.000	T
GTF2E2	2961	genome.wustl.edu	37	8	30492575	30492575	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:30492575G>C	ENST00000355904.4	-	3	514	c.232C>G	c.(232-234)Ctt>Gtt	p.L78V		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	78					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		ATCTTAGCAAGAACACCAAAC	0.333																																						dbGAP											0													92.0	86.0	88.0					8																	30492575		2202	4298	6500	-	-	-	SO:0001583	missense	0			BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"""General transcription factors"""	4651	protein-coding gene	gene with protein product		189964	"""general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"""			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.232C>G	8.37:g.30492575G>C	ENSP00000348168:p.Leu78Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSV2|Q9H2B9	Missense_Mutation	SNP	pfam_TFIIE_bsu_DNA-bd,pirsf_TFIIE-bsu	p.L78V	ENST00000355904.4	37	c.232	CCDS6078.1	8	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873137	0.72180	.	.	ENSG00000197265	ENST00000355904;ENST00000518599;ENST00000518445	T;T;T	0.66815	-0.23;-0.23;-0.23	6.17	6.17	0.99709	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor TFIIE beta subunit, DNA-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.81688	0.4875	M	0.75615	2.305	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.78086	-0.2341	10	0.33940	T	0.23	-16.2148	18.3732	0.90420	0.0:0.0:1.0:0.0	.	78	P29084	T2EB_HUMAN	V	78	ENSP00000348168:L78V;ENSP00000429921:L78V;ENSP00000429312:L78V	ENSP00000348168:L78V	L	-	1	0	GTF2E2	30612117	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.713000	0.68415	2.941000	0.99782	0.655000	0.94253	CTT	GTF2E2	-	pfam_TFIIE_bsu_DNA-bd,pirsf_TFIIE-bsu	ENSG00000197265		0.333	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2E2	HGNC	protein_coding	OTTHUMT00000376459.2	20	0.00	0	G	NM_002095		30492575	30492575	-1	no_errors	ENST00000355904	ensembl	human	known	69_37n	missense	24	14.29	4	SNP	1.000	C
GSR	2936	genome.wustl.edu	37	8	30553915	30553915	+	Silent	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:30553915C>G	ENST00000221130.5	-	7	867	c.777G>C	c.(775-777)ctG>ctC	p.L259L	GSR_ENST00000546342.1_Silent_p.L259L|GSR_ENST00000537535.1_Silent_p.L259L|GSR_ENST00000541648.1_Silent_p.L259L|GSR_ENST00000414019.1_Silent_p.L216L	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	259					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	GCCGTATCATCAGTGATGTCT	0.428																																						dbGAP											0													168.0	152.0	157.0					8																	30553915		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.777G>C	8.37:g.30553915C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase	p.D213H	ENST00000221130.5	37	c.637	CCDS34877.1	8	.	.	.	.	.	.	.	.	.	.	C	3.285	-0.146184	0.06627	.	.	ENSG00000104687	ENST00000520888	.	.	.	5.83	-11.7	0.00046	.	.	.	.	.	T	0.40398	0.1115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54549	-0.8277	4	.	.	.	-40.4292	4.9099	0.13816	0.1326:0.367:0.3718:0.1286	.	.	.	.	H	213	.	.	D	-	1	0	GSR	30673457	0.000000	0.05858	0.001000	0.08648	0.705000	0.40729	-2.897000	0.00706	-3.827000	0.00102	-1.886000	0.00541	GAT	GSR	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Hg_reductase	ENSG00000104687		0.428	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSR	HGNC	protein_coding	OTTHUMT00000376519.1	30	0.00	0	C			30553915	30553915	-1	pseudogene:no_stop_codon	ENST00000520888	ensembl	human	novel	69_37n	missense	19	26.92	7	SNP	0.000	G
GTPBP10	85865	genome.wustl.edu	37	7	90014312	90014312	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:90014312G>C	ENST00000222511.6	+	10	1074	c.1008G>C	c.(1006-1008)aaG>aaC	p.K336N	GTPBP10_ENST00000257659.8_Missense_Mutation_p.K257N	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	336	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						AAGAATTAAAGAATTGTATAA	0.358																																						dbGAP											0													107.0	106.0	106.0					7																	90014312		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.1008G>C	7.37:g.90014312G>C	ENSP00000222511:p.Lys336Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_GTP1_OBG_dom,pfam_Fe2_transport_prot_B_N,pfam_ProtSyn_GTP-bd,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain	p.K336N	ENST00000222511.6	37	c.1008	CCDS5617.1	7	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919788	0.52653	.	.	ENSG00000105793	ENST00000257659;ENST00000222511	T;T	0.18657	2.2;2.2	5.74	3.95	0.45737	.	0.100753	0.64402	D	0.000001	T	0.38401	0.1039	M	0.79475	2.455	0.44937	D	0.997951	D;D	0.89917	1.0;0.995	D;P	0.70716	0.97;0.901	T	0.29549	-1.0008	9	.	.	.	-15.3262	1.8745	0.03215	0.2326:0.1372:0.4884:0.1418	.	257;336	A4D1E9-2;A4D1E9	.;GTPBA_HUMAN	N	257;336	ENSP00000257659:K257N;ENSP00000222511:K336N	.	K	+	3	2	GTPBP10	89852248	0.479000	0.25925	0.924000	0.36721	0.757000	0.42996	0.768000	0.26590	0.781000	0.33589	0.655000	0.94253	AAG	GTPBP10	-	pfam_ProtSyn_GTP-bd,pirsf_GTP-bd_Obg/CgtA	ENSG00000105793		0.358	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP10	HGNC	protein_coding	OTTHUMT00000059976.3	29	0.00	0	G	NM_033107		90014312	90014312	+1	no_errors	ENST00000222511	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	0.340	C
GUCA1B	2979	genome.wustl.edu	37	6	42156389	42156389	+	Missense_Mutation	SNP	C	C	G	rs369754399		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:42156389C>G	ENST00000230361.3	-	2	383	c.288G>C	c.(286-288)tgG>tgC	p.W96C		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	96	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				body fluid secretion (GO:0007589)|cell-cell signaling (GO:0007267)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			TCTTGAATGTCCACTTCAGCT	0.537																																						dbGAP											0													152.0	105.0	121.0					6																	42156389		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF173227	CCDS4865.1	6p21.1	2013-02-14			ENSG00000112599	ENSG00000112599		"""EF-hand domain containing"""	4679	protein-coding gene	gene with protein product		602275				9119368	Standard	NM_002098		Approved	GCAP2, RP48	uc003orz.3	Q9UMX6	OTTHUMG00000014697	ENST00000230361.3:c.288G>C	6.37:g.42156389C>G	ENSP00000230361:p.Trp96Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NU15	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.W96C	ENST00000230361.3	37	c.288	CCDS4865.1	6	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347329	0.82022	.	.	ENSG00000112599	ENST00000230361;ENST00000372949	T	0.41400	1.0	4.87	4.87	0.63330	EF-hand-like domain (1);	0.114876	0.64402	D	0.000005	T	0.60209	0.2251	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64871	-0.6305	10	0.87932	D	0	.	16.3185	0.82936	0.0:1.0:0.0:0.0	.	96	Q9UMX6	GUC1B_HUMAN	C	96	ENSP00000230361:W96C	ENSP00000230361:W96C	W	-	3	0	GUCA1B	42264367	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.688000	0.84153	2.616000	0.88540	0.655000	0.94253	TGG	GUCA1B	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	ENSG00000112599		0.537	GUCA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCA1B	HGNC	protein_coding	OTTHUMT00000040550.1	42	0.00	0	C	NM_002098		42156389	42156389	-1	no_errors	ENST00000230361	ensembl	human	known	69_37n	missense	45	21.05	12	SNP	1.000	G
HCN3	57657	genome.wustl.edu	37	1	155258262	155258262	+	3'UTR	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:155258262G>C	ENST00000368358.3	+	0	2341				HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3						potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TAAAACCTTTGAGTACATCCA	0.577																																						dbGAP											0													31.0	41.0	38.0					1																	155258262		2202	4296	6498	-	-	-	SO:0001624	3_prime_UTR_variant	0			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.*8G>C	1.37:g.155258262G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	RNA	SNP	-	NULL	ENST00000368358.3	37	NULL	CCDS1108.1	1																																																																																			HCN3	-	-	ENSG00000143630		0.577	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN3	HGNC	protein_coding	OTTHUMT00000087388.1	24	0.00	0	G	NM_020897		155258262	155258262	+1	no_errors	ENST00000496230	ensembl	human	known	69_37n	rna	27	30.77	12	SNP	0.001	C
HDAC10	83933	genome.wustl.edu	37	22	50684419	50684419	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr22:50684419G>C	ENST00000216271.5	-	18	2105	c.1753C>G	c.(1753-1755)Ctg>Gtg	p.L585V	MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000448072.1_Missense_Mutation_p.L535V|TUBGCP6_ENST00000439308.2_5'Flank|HDAC10_ENST00000349505.4_Missense_Mutation_p.L565V|TUBGCP6_ENST00000248846.5_5'Flank	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	585					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGCCCTGCAGGCCATGGCCA	0.692																																						dbGAP											0													22.0	25.0	24.0					22																	50684419		2194	4291	6485	-	-	-	SO:0001583	missense	0			AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.1753C>G	22.37:g.50684419G>C	ENSP00000216271:p.Leu585Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Missense_Mutation	SNP	pfam_His_deacetylse_dom,prints_His_deacetylse	p.L585V	ENST00000216271.5	37	c.1753	CCDS14088.1	22	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331639	0.60853	.	.	ENSG00000100429	ENST00000216271;ENST00000448072;ENST00000349505	T;T;T	0.34667	1.35;1.35;1.35	5.31	3.24	0.37175	Histone deacetylase domain (1);	0.600069	0.14952	N	0.288830	T	0.46698	0.1406	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.64830	0.99;0.994;0.976;0.983	P;P;P;P	0.59171	0.853;0.804;0.797;0.718	T	0.55490	-0.8133	10	0.02654	T	1	-15.7402	8.9788	0.35953	0.1706:0.0:0.8294:0.0	.	565;535;585;585	Q969S8-2;C9J8B8;Q969S8-4;Q969S8	.;.;.;HDA10_HUMAN	V	585;535;565	ENSP00000216271:L585V;ENSP00000397542:L535V;ENSP00000343540:L565V	ENSP00000216271:L585V	L	-	1	2	HDAC10	49026546	0.978000	0.34361	0.975000	0.42487	0.901000	0.52897	0.441000	0.21611	0.826000	0.34661	0.561000	0.74099	CTG	HDAC10	-	NULL	ENSG00000100429		0.692	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC10	HGNC	protein_coding	OTTHUMT00000104141.4	29	0.00	0	G	NM_032019		50684419	50684419	-1	no_errors	ENST00000216271	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	0.883	C
HDAC5	10014	genome.wustl.edu	37	17	42170727	42170727	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:42170727C>T	ENST00000393622.2	-	5	812	c.481G>A	c.(481-483)Gag>Aag	p.E161K	HDAC5_ENST00000586802.1_Missense_Mutation_p.E161K|HDAC5_ENST00000225983.6_Missense_Mutation_p.E162K|HDAC5_ENST00000336057.5_Missense_Mutation_p.E161K	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	161					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		Agctgctgctccagccgctgc	0.667																																						dbGAP											0													8.0	9.0	9.0					17																	42170727		2168	4235	6403	-	-	-	SO:0001583	missense	0			AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.481G>A	17.37:g.42170727C>T	ENSP00000377244:p.Glu161Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.E162K	ENST00000393622.2	37	c.484	CCDS45696.1	17	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115918	0.56505	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.05649	3.41;3.41;3.41	3.85	3.85	0.44370	.	0.665592	0.13775	N	0.363613	T	0.20455	0.0492	L	0.55017	1.72	0.58432	D	0.999999	D;D;D;D	0.67145	0.996;0.993;0.996;0.993	D;D;D;D	0.73708	0.981;0.956;0.981;0.956	T	0.01036	-1.1473	10	0.56958	D	0.05	-7.9149	14.6878	0.69062	0.0:1.0:0.0:0.0	.	161;161;162;161	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	K	162;161;161	ENSP00000225983:E162K;ENSP00000377244:E161K;ENSP00000337290:E161K	ENSP00000225983:E162K	E	-	1	0	HDAC5	39526253	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.788000	0.55446	1.991000	0.58162	0.555000	0.69702	GAG	HDAC5	-	pirsf_Histone_deAcase_II_euk	ENSG00000108840		0.667	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC5	HGNC	protein_coding	OTTHUMT00000457686.1	79	0.00	0	C	NM_001015053		42170727	42170727	-1	no_errors	ENST00000225983	ensembl	human	known	69_37n	missense	79	17.71	17	SNP	1.000	T
HDAC5	10014	genome.wustl.edu	37	17	42170740	42170740	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:42170740C>T	ENST00000393622.2	-	5	799	c.468G>A	c.(466-468)gaG>gaA	p.E156E	HDAC5_ENST00000586802.1_Silent_p.E156E|HDAC5_ENST00000225983.6_Silent_p.E157E|HDAC5_ENST00000336057.5_Silent_p.E156E	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	156					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		gccgctgcttctccagctctt	0.662																																						dbGAP											0													7.0	8.0	8.0					17																	42170740		2110	4129	6239	-	-	-	SO:0001819	synonymous_variant	0			AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.468G>A	17.37:g.42170740C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JFV9|O60340|O60528|Q96DY4	Silent	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.E157	ENST00000393622.2	37	c.471	CCDS45696.1	17																																																																																			HDAC5	-	pirsf_Histone_deAcase_II_euk	ENSG00000108840		0.662	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC5	HGNC	protein_coding	OTTHUMT00000457686.1	80	0.00	0	C	NM_001015053		42170740	42170740	-1	no_errors	ENST00000225983	ensembl	human	known	69_37n	silent	91	14.95	16	SNP	1.000	T
HDAC7	51564	genome.wustl.edu	37	12	48184201	48184201	+	Intron	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:48184201G>A	ENST00000427332.2	-	17	2023				HDAC7_ENST00000488927.1_Intron|HDAC7_ENST00000552960.1_Intron|HDAC7_ENST00000080059.7_Intron|HDAC7_ENST00000380610.4_Intron|HDAC7_ENST00000354334.3_Intron			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7						cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		TGGGGAGGGCGAGGCAGACCA	0.642																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.1867-498C>T	12.37:g.48184201G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	RNA	SNP	-	NULL	ENST00000427332.2	37	NULL		12																																																																																			HDAC7	-	-	ENSG00000061273		0.642	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	HDAC7	HGNC	protein_coding	OTTHUMT00000328804.2	12	0.00	0	G			48184201	48184201	-1	no_errors	ENST00000477937	ensembl	human	known	69_37n	rna	8	38.46	5	SNP	1.000	A
HDLBP	3069	genome.wustl.edu	37	2	242176096	242176096	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:242176096C>A	ENST00000391975.1	-	21	3065	c.2838G>T	c.(2836-2838)agG>agT	p.R946S	HDLBP_ENST00000427183.2_Missense_Mutation_p.R913S|HDLBP_ENST00000391976.2_Missense_Mutation_p.R946S|HDLBP_ENST00000310931.4_Missense_Mutation_p.R946S	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	946	KH 11. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TGTCACACCTCCTTGGAGAGC	0.567																																						dbGAP											0													131.0	115.0	121.0					2																	242176096		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2838G>T	2.37:g.242176096C>A	ENSP00000375836:p.Arg946Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Nonsense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.E755*	ENST00000391975.1	37	c.2263	CCDS2547.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.82|11.82	1.752089|1.752089	0.31046|0.31046	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|T;T;T;T	.|0.17528	.|2.28;2.28;2.28;2.27	5.69|5.69	1.72|1.72	0.24424|0.24424	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.212960	.|0.47852	.|D	.|0.000217	.|T	.|0.16128	.|0.0388	M|M	0.62723|0.62723	1.935|1.935	0.31858|0.31858	N|N	0.62135|0.62135	.|B;B	.|0.21071	.|0.051;0.029	.|B;B	.|0.29077	.|0.098;0.023	.|T	.|0.17410	.|-1.0370	.|10	.|0.19147	.|T	.|0.46	-29.1902|-29.1902	6.4687|6.4687	0.21995|0.21995	0.0:0.5619:0.2406:0.1975|0.0:0.5619:0.2406:0.1975	.|.	.|913;946	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	X|S	755|946;946;946;913	.|ENSP00000375836:R946S;ENSP00000375837:R946S;ENSP00000312042:R946S;ENSP00000399139:R913S	.|ENSP00000312042:R946S	E|R	-|-	1|3	0|2	HDLBP|HDLBP	241824769|241824769	1.000000|1.000000	0.71417|0.71417	0.011000|0.011000	0.14972|0.14972	0.925000|0.925000	0.55904|0.55904	1.301000|1.301000	0.33447|0.33447	0.299000|0.299000	0.22661|0.22661	0.655000|0.655000	0.94253|0.94253	GAG|AGG	HDLBP	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000115677		0.567	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	63	0.00	0	C	NM_203346		242176096	242176096	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000373292	ensembl	human	novel	69_37n	nonsense	76	16.48	15	SNP	0.257	A
HEATR5A	25938	genome.wustl.edu	37	14	31777119	31777119	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:31777119A>T	ENST00000389961.3	-	29	4779	c.4780T>A	c.(4780-4782)Tca>Aca	p.S1594T	HEATR5A_ENST00000439348.1_Missense_Mutation_p.S1594T|AL136418.1_ENST00000582500.1_RNA|HEATR5A_ENST00000543095.2_Missense_Mutation_p.S1600T|HEATR5A_ENST00000439727.1_Missense_Mutation_p.S1307T			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1594										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CCAATTTTTGATCTGGGCCAA	0.388																																						dbGAP											0													111.0	101.0	104.0					14																	31777119		1851	4093	5944	-	-	-	SO:0001583	missense	0			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.4780T>A	14.37:g.31777119A>T	ENSP00000374611:p.Ser1594Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S1594T	ENST00000389961.3	37	c.4780		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.169|9.169	1.020675|1.020675	0.19433|0.19433	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095	.|T;T;T;T	.|0.67345	.|0.86;-0.26;0.86;0.86	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.240168	.|0.42964	.|D	.|0.000624	T|T	0.53932|0.53932	0.1827|0.1827	L|L	0.48362|0.48362	1.52|1.52	0.80722|0.80722	D|D	1|1	.|B	.|0.10296	.|0.003	.|B	.|0.09377	.|0.004	T|T	0.48822|0.48822	-0.9001|-0.9001	5|10	.|0.14656	.|T	.|0.56	.|.	7.748|7.748	0.28879|0.28879	0.7189:0.1435:0.0:0.1375|0.7189:0.1435:0.0:0.1375	.|.	.|1594	.|Q86XA9-2	.|.	E|T	1227|1594;1594;1307;1600	.|ENSP00000374611:S1594T;ENSP00000405407:S1594T;ENSP00000408681:S1307T;ENSP00000437968:S1600T	.|ENSP00000374611:S1594T	D|S	-|-	3|1	2|0	HEATR5A|HEATR5A	30846870|30846870	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	2.587000|2.587000	0.46128|0.46128	2.188000|2.188000	0.69820|0.69820	0.533000|0.533000	0.62120|0.62120	GAT|TCA	HEATR5A	-	superfamily_ARM-type_fold	ENSG00000129493		0.388	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		41	0.00	0	A	NM_015473		31777119	31777119	-1	no_errors	ENST00000389961	ensembl	human	known	69_37n	missense	47	11.32	6	SNP	0.997	T
HEATR5B	54497	genome.wustl.edu	37	2	37247806	37247806	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:37247806G>A	ENST00000233099.5	-	25	4122	c.4027C>T	c.(4027-4029)Cag>Tag	p.Q1343*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.Q1343*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1343						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACATTAGCCTGATACTGCTCC	0.428																																						dbGAP											0													39.0	39.0	39.0					2																	37247806		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.4027C>T	2.37:g.37247806G>A	ENSP00000233099:p.Gln1343*	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDU8|Q7Z3B2|Q9NVL7	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.Q1343*	ENST00000233099.5	37	c.4027	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	G	45	11.315044	0.99545	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.9944	20.3334	0.98727	0.0:0.0:1.0:0.0	.	.	.	.	X	1343	.	ENSP00000233099:Q1343X	Q	-	1	0	HEATR5B	37101310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.818000	0.97014	0.591000	0.81541	CAG	HEATR5B	-	superfamily_ARM-type_fold	ENSG00000008869		0.428	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	36	0.00	0	G	NM_019024		37247806	37247806	-1	no_errors	ENST00000233099	ensembl	human	known	69_37n	nonsense	23	32.35	11	SNP	1.000	A
HERC2	8924	genome.wustl.edu	37	15	28436126	28436126	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr15:28436126C>T	ENST00000261609.7	-	55	8742	c.8634G>A	c.(8632-8634)ctG>ctA	p.L2878L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCAGTCATTCAGAAGGGGCA	0.408																																						dbGAP											0													119.0	113.0	115.0					15																	28436126		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8634G>A	15.37:g.28436126C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.L2878	ENST00000261609.7	37	c.8634	CCDS10021.1	15																																																																																			HERC2	-	superfamily_Galactose-bd-like	ENSG00000128731		0.408	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	79	0.00	0	C	NM_004667		28436126	28436126	-1	no_errors	ENST00000261609	ensembl	human	known	69_37n	silent	53	14.52	9	SNP	0.628	T
HHLA1	10086	genome.wustl.edu	37	8	133090093	133090093	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:133090093G>C	ENST00000414222.1	-	11	1050	c.1051C>G	c.(1051-1053)Cgt>Ggt	p.R351G	OC90_ENST00000262283.5_Missense_Mutation_p.R93G|HHLA1_ENST00000434736.2_Missense_Mutation_p.R387G	NM_001145095.1	NP_001138567.1	C9JL84	HHLA1_HUMAN	HERV-H LTR-associating 1	351						extracellular region (GO:0005576)				endometrium(6)|kidney(1)|lung(2)|skin(1)|stomach(2)	12						GGGGAAGAACGAGTTTCCCAG	0.567																																						dbGAP											0													85.0	83.0	84.0					8																	133090093		692	1591	2283	-	-	-	SO:0001583	missense	0			AF110315		8q24	2011-03-01			ENSG00000132297	ENSG00000132297			4904	protein-coding gene	gene with protein product		604109		PLA2L		10329003	Standard	NM_001145095		Approved		uc011liy.1	C9JL84	OTTHUMG00000140390	ENST00000414222.1:c.1051C>G	8.37:g.133090093G>C	ENSP00000388322:p.Arg351Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R351G	ENST00000414222.1	37	c.1051		8	.	.	.	.	.	.	.	.	.	.	G	9.269	1.045202	0.19748	.	.	ENSG00000258417;ENSG00000132297;ENSG00000132297	ENST00000262283;ENST00000414222;ENST00000434736	T	0.31510	1.49	4.78	-1.62	0.08372	.	.	.	.	.	T	0.12944	0.0314	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.29852	-0.9998	9	0.25106	T	0.35	5.8082	6.4631	0.21968	0.2748:0.4968:0.2284:0.0	.	351;208	C9JL84;C9JL84-2	HHLA1_HUMAN;.	G	93;351;387	ENSP00000262283:R93G	ENSP00000388322:R351G	R	-	1	0	RP11-240B13.2;HHLA1	133159275	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.180000	0.09754	-0.203000	0.10251	-0.227000	0.12334	CGT	HHLA1	-	NULL	ENSG00000132297		0.567	HHLA1-201	KNOWN	basic|appris_principal	protein_coding	HHLA1	HGNC	protein_coding		31	0.00	0	G	XR_017860		133090093	133090093	-1	no_errors	ENST00000414222	ensembl	human	known	69_37n	missense	28	12.50	4	SNP	0.000	C
HHLA2	11148	genome.wustl.edu	37	3	108081291	108081291	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:108081291G>C	ENST00000357759.5	+	7	1520	c.1106G>C	c.(1105-1107)aGa>aCa	p.R369T	HHLA2_ENST00000491820.1_Missense_Mutation_p.R369T|HHLA2_ENST00000489514.2_Missense_Mutation_p.R369T|HHLA2_ENST00000467761.1_Missense_Mutation_p.R369T|HHLA2_ENST00000467562.1_Missense_Mutation_p.R305T	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	369					positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						AAATGTTGCAGAGGTAATAGA	0.438																																						dbGAP											0													108.0	96.0	100.0					3																	108081291		1837	4091	5928	-	-	-	SO:0001583	missense	0			AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.1106G>C	3.37:g.108081291G>C	ENSP00000350402:p.Arg369Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKN2|D3DN60|Q9NWQ6	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R369T	ENST00000357759.5	37	c.1106	CCDS46883.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.686|3.686	-0.064442|-0.064442	0.07273|0.07273	.|.	.|.	ENSG00000114455|ENSG00000114455	ENST00000482099|ENST00000491820;ENST00000467562;ENST00000357759;ENST00000467761;ENST00000489514	.|T;T;T;T;T	.|0.12569	.|4.85;2.67;4.78;4.78;4.78	3.98|3.98	-6.4|-6.4	0.01944|0.01944	.|.	.|2.145090	.|0.02843	.|N	.|0.128129	T|T	0.07863|0.07863	0.0197|0.0197	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999998|0.999998	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.36648|0.36648	-0.9739|-0.9739	5|10	.|0.66056	.|D	.|0.02	-22.0742|-22.0742	11.396|11.396	0.49843|0.49843	0.2928:0.1537:0.5536:0.0|0.2928:0.1537:0.5536:0.0	.|.	.|305;369;369	.|B4DKN2;C9J7D0;Q9UM44	.|.;.;HHLA2_HUMAN	H|T	271|369;305;369;369;369	.|ENSP00000418284:R369T;ENSP00000418345:R305T;ENSP00000350402:R369T;ENSP00000419207:R369T;ENSP00000417856:R369T	.|ENSP00000350402:R369T	Q|R	+|+	3|2	2|0	HHLA2|HHLA2	109563981|109563981	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.051000|0.051000	0.14879|0.14879	-3.809000|-3.809000	0.00361|0.00361	-1.567000|-1.567000	0.01671|0.01671	-0.796000|-0.796000	0.03273|0.03273	CAG|AGA	HHLA2	-	NULL	ENSG00000114455		0.438	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHLA2	HGNC	protein_coding	OTTHUMT00000353924.1	33	0.00	0	G	NM_007072		108081291	108081291	+1	no_errors	ENST00000357759	ensembl	human	known	69_37n	missense	33	21.43	9	SNP	0.001	C
HIF1A	3091	genome.wustl.edu	37	14	62162402	62162402	+	5'UTR	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:62162402C>T	ENST00000337138.4	+	0	145				HIF1A-AS1_ENST00000557544.1_lincRNA|HIF1A_ENST00000323441.6_5'Flank|HIF1A_ENST00000539097.1_5'Flank|HIF1A_ENST00000557538.1_5'Flank|HIF1A_ENST00000394997.1_5'UTR	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)						angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	TTTCCCGCCTCGCACCCCCAC	0.697																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.-121C>T	14.37:g.62162402C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	RNA	SNP	-	NULL	ENST00000337138.4	37	NULL	CCDS9753.1	14																																																																																			HIF1A	-	-	ENSG00000100644		0.697	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	22	0.00	0	C	NM_001530		62162402	62162402	+1	no_errors	ENST00000553999	ensembl	human	known	69_37n	rna	20	31.03	9	SNP	0.925	T
HIST1H1C	3006	genome.wustl.edu	37	6	26056117	26056117	+	Silent	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:26056117C>A	ENST00000343677.2	-	1	582	c.540G>T	c.(538-540)gcG>gcT	p.A180A		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	180					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.A180A(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TCTTGGGCTTCGCAACCTTGG	0.542																																						dbGAP											2	Substitution - coding silent(2)	NS(1)|lung(1)											97.0	106.0	103.0					6																	26056117		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.540G>T	6.37:g.26056117C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4I2	Silent	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.A180	ENST00000343677.2	37	c.540	CCDS4577.1	6																																																																																			HIST1H1C	-	prints_Histone_H5	ENSG00000187837		0.542	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	HGNC	protein_coding	OTTHUMT00000043372.1	43	0.00	0	C	NM_005319		26056117	26056117	-1	no_errors	ENST00000343677	ensembl	human	known	69_37n	silent	46	14.81	8	SNP	1.000	A
HIVEP3	59269	genome.wustl.edu	37	1	42047350	42047350	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:42047350C>G	ENST00000372583.1	-	4	4004	c.3119G>C	c.(3118-3120)aGa>aCa	p.R1040T	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1040T|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R1040T|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1040T	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1040	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCATTTTCTTCTCTCTGGCGG	0.587																																						dbGAP											0													42.0	48.0	46.0					1																	42047350		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3119G>C	1.37:g.42047350C>G	ENSP00000361664:p.Arg1040Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1040T	ENST00000372583.1	37	c.3119	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446990	0.63178	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	4.89	4.89	0.63831	.	0.000000	0.52532	D	0.000064	T	0.76550	0.4003	M	0.75085	2.285	0.46149	D	0.998896	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.79725	-0.1683	10	0.87932	D	0	3.1913	17.8472	0.88733	0.0:1.0:0.0:0.0	.	1040;1040	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	T	1040	ENSP00000361665:R1040T;ENSP00000361664:R1040T;ENSP00000247584:R1040T;ENSP00000410828:R1040T	ENSP00000247584:R1040T	R	-	2	0	HIVEP3	41819937	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.909000	0.69923	2.538000	0.85594	0.462000	0.41574	AGA	HIVEP3	-	NULL	ENSG00000127124		0.587	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	31	0.00	0	C	NM_024503		42047350	42047350	-1	no_errors	ENST00000247584	ensembl	human	known	69_37n	missense	29	17.14	6	SNP	1.000	G
ZNRD1-AS1	80862	genome.wustl.edu	37	6	29974840	29974840	+	RNA	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:29974840G>A	ENST00000376797.3	-	0	1346				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		CAACCAGAGCGAGGCGGGTGA	0.667																																						dbGAP											0																																										-	-	-			0			AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29974840G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000376797.3	37	NULL		6																																																																																			HLA-J	-	-	ENSG00000204622		0.667	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	HLA-J	HGNC	antisense	OTTHUMT00000253083.1	49	0.00	0	G	NR_026751		29974840	29974840	+1	no_errors	ENST00000462773	ensembl	human	known	69_37n	rna	47	16.07	9	SNP	0.329	A
HLA-DQA1	3117	genome.wustl.edu	37	6	32609762	32609762	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:32609762C>T	ENST00000343139.5	+	3	447	c.345C>T	c.(343-345)gtC>gtT	p.V115V	HLA-DQA1_ENST00000374949.2_Silent_p.V115V|HLA-DQA1_ENST00000395363.1_Silent_p.V115V	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	114	Alpha-1.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TTCCTGAGGTCACAGTGTTTT	0.512																																						dbGAP											0													124.0	92.0	103.0					6																	32609762		1510	2709	4219	-	-	-	SO:0001819	synonymous_variant	0				CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.345C>T	6.37:g.32609762C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Missense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like	p.S88L	ENST00000343139.5	37	c.263	CCDS4752.1	6	.	.	.	.	.	.	.	.	.	.	.	0.212	-1.036130	0.02029	.	.	ENSG00000196735	ENST00000486548	.	.	.	4.1	0.203	0.15195	.	.	.	.	.	T	0.33962	0.0881	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21008	-1.0258	4	.	.	.	.	4.5437	0.12071	0.2915:0.3303:0.3782:0.0	.	.	.	.	L	88	.	.	S	+	2	0	HLA-DQA1	32717740	0.934000	0.31675	0.846000	0.33378	0.068000	0.16541	0.222000	0.17699	-0.084000	0.12595	-0.165000	0.13383	TCA	HLA-DQA1	-	pfscan_Ig-like	ENSG00000196735		0.512	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DQA1	HGNC	protein_coding	OTTHUMT00000076176.3	73	0.00	0	C	NM_002122		32609762	32609762	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000486548	ensembl	human	putative	69_37n	missense	73	18.89	17	SNP	0.930	T
HMCN2	256158	genome.wustl.edu	37	9	133303800	133303800	+	Silent	SNP	G	G	T	rs190778300		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:133303800G>T	ENST00000428715.1	+	9	1252	c.1251G>T	c.(1249-1251)gtG>gtT	p.V417V	HMCN2_ENST00000302481.1_5'Flank			Q8NDA2	HMCN2_HUMAN	hemicentin 2	4693					response to stimulus (GO:0050896)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)										AGCGCTGTGTGAACCTGCTCG	0.662																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AK074396		9q34.11	2013-01-29			ENSG00000148357	ENSG00000148357		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21293	protein-coding gene	gene with protein product							Standard	XM_006710218		Approved	DKFZp434P0216, FLJ23816		Q8NDA2	OTTHUMG00000140096	ENST00000428715.1:c.1251G>T	9.37:g.133303800G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N225|Q8TCI8	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_G2_nidogen/fibulin_G2F,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Green_fluorescent_prot-like,superfamily_Growth_fac_rcpt,smart_Ig_sub,smart_Ig_sub2,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Ig-like	p.V417	ENST00000428715.1	37	c.1251		9																																																																																			HMCN2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000148357		0.662	HMCN2-001	NOVEL	basic|exp_conf	protein_coding	HMCN2	HGNC	protein_coding	OTTHUMT00000054661.2	49	0.00	0	G	XM_175125		133303800	133303800	+1	no_start_codon	ENST00000428715	ensembl	human	novel	69_37n	silent	38	29.63	16	SNP	1.000	T
HMG20A	10363	genome.wustl.edu	37	15	77771569	77771569	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr15:77771569G>A	ENST00000381714.3	+	10	1384	c.956G>A	c.(955-957)aGa>aAa	p.R319K	HMG20A_ENST00000336216.4_Missense_Mutation_p.R319K	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	319					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TATATGAACAGACTGCACAGT	0.403																																						dbGAP											0													148.0	149.0	149.0					15																	77771569		2196	4294	6490	-	-	-	SO:0001583	missense	0			AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"""High mobility group / Non-canonical"""	5001	protein-coding gene	gene with protein product	"""HMG box domain containing 1"""	605534	"""high-mobility group 20A"""			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.956G>A	15.37:g.77771569G>A	ENSP00000371133:p.Arg319Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R319K	ENST00000381714.3	37	c.956	CCDS10295.1	15	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626307	0.46840	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	T;T	0.64438	-0.1;-0.1	6.04	6.04	0.98038	.	0.041567	0.85682	D	0.000000	T	0.46171	0.1379	N	0.12853	0.265	0.46298	D	0.998978	B	0.13594	0.008	B	0.14023	0.01	T	0.42327	-0.9458	10	0.10111	T	0.7	-14.0776	20.5948	0.99439	0.0:0.0:1.0:0.0	.	319	Q9NP66	HM20A_HUMAN	K	319	ENSP00000336856:R319K;ENSP00000371133:R319K	ENSP00000336856:R319K	R	+	2	0	HMG20A	75558624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.943000	0.75934	2.873000	0.98535	0.563000	0.77884	AGA	HMG20A	-	NULL	ENSG00000140382		0.403	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMG20A	HGNC	protein_coding	OTTHUMT00000419512.2	39	0.00	0	G	NM_018200		77771569	77771569	+1	no_errors	ENST00000336216	ensembl	human	known	69_37n	missense	21	16.00	4	SNP	1.000	A
HMGB3	3149	genome.wustl.edu	37	X	150156382	150156382	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:150156382G>A	ENST00000325307.7	+	5	694	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	HMGB3_ENST00000448905.2_Missense_Mutation_p.E200K	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	200	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					ggaggaggaTGAATAAAGAAA	0.458																																						dbGAP											0													49.0	48.0	48.0					X																	150156382		2202	4297	6499	-	-	-	SO:0001583	missense	0			AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.598G>A	X.37:g.150156382G>A	ENSP00000359393:p.Glu200Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O95556|Q6NS40	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E200K	ENST00000325307.7	37	c.598	CCDS35428.1	X	.	.	.	.	.	.	.	.	.	.	g	10.76	1.441544	0.25900	.	.	ENSG00000029993	ENST00000325307;ENST00000448905	D;D	0.95690	-3.78;-3.78	4.6	3.72	0.42706	.	0.308416	0.22608	N	0.057870	D	0.87597	0.6217	N	0.08118	0	0.21984	N	0.999432	B	0.16396	0.017	B	0.08055	0.003	T	0.73789	-0.3872	9	.	.	.	.	11.9509	0.52954	0.0:0.0:0.825:0.175	.	200	O15347	HMGB3_HUMAN	K	200	ENSP00000359393:E200K;ENSP00000442758:E200K	.	E	+	1	0	HMGB3	149907040	1.000000	0.71417	0.607000	0.28956	0.083000	0.17756	7.152000	0.77419	0.720000	0.32209	0.600000	0.82982	GAA	HMGB3	-	NULL	ENSG00000029993		0.458	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HMGB3	HGNC	protein_coding	OTTHUMT00000060867.1	34	0.00	0	G	NM_005342		150156382	150156382	+1	no_errors	ENST00000325307	ensembl	human	known	69_37n	missense	19	13.64	3	SNP	1.000	A
HMGN1	3150	genome.wustl.edu	37	21	40720491	40720491	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr21:40720491C>T	ENST00000380749.5	-	2	310	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	HMGN1_ENST00000380748.1_Missense_Mutation_p.E10K|HMGN1_ENST00000361263.4_5'Flank|HMGN1_ENST00000380747.1_Missense_Mutation_p.E26K|HMGN1_ENST00000489072.1_5'UTR	NM_004965.6	NP_004956.5	P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1	10					chromatin organization (GO:0006325)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|post-embryonic camera-type eye morphogenesis (GO:0048597)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of development, heterochronic (GO:0040034)|regulation of epithelial cell proliferation (GO:0050678)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to UV-B (GO:0010224)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				GCGGCGCCTTCGGCGGAGCTG	0.701																																						dbGAP											0													14.0	20.0	18.0					21																	40720491		2183	4267	6450	-	-	-	SO:0001583	missense	0				CCDS33559.1	21q22.3	2011-07-01	2011-04-05	2002-08-16	ENSG00000205581	ENSG00000205581		"""High-mobility group / Canonical"""	4984	protein-coding gene	gene with protein product	"""high-mobility group nucleosome binding 1"", ""nonhistone chromosomal protein HMG-14"""	163920	"""high-mobility group (nonhistone chromosomal) protein 14"", ""high-mobility group nucleosome binding domain 1"""	HMG14		3782107, 2563381	Standard	NM_004965		Approved	FLJ27265, FLJ31471, MGC104230, MGC117425	uc002yxo.3	P05114	OTTHUMG00000066178	ENST00000380749.5:c.28G>A	21.37:g.40720491C>T	ENSP00000370125:p.Glu10Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KQR8	Missense_Mutation	SNP	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	p.E10K	ENST00000380749.5	37	c.28	CCDS33559.1	21	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290124	0.23478	.	.	ENSG00000205581	ENST00000380749;ENST00000380748;ENST00000380747	.	.	.	3.74	1.85	0.25348	.	.	.	.	.	T	0.62974	0.2472	M	0.86740	2.835	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.59595	-0.7425	8	0.87932	D	0	.	7.202	0.25887	0.0:0.7264:0.1731:0.1005	.	10	P05114	HMGN1_HUMAN	K	10;10;26	.	ENSP00000288344:E10K	E	-	1	0	HMGN1	39642361	1.000000	0.71417	0.492000	0.27490	0.113000	0.19764	4.327000	0.59247	0.092000	0.17331	-0.175000	0.13238	GAA	HMGN1	-	pfam_HMGN_fam,smart_HMGN_fam	ENSG00000205581		0.701	HMGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN1	HGNC	protein_coding	OTTHUMT00000141645.2	14	0.00	0	C	NM_004965		40720491	40720491	-1	no_errors	ENST00000380749	ensembl	human	known	69_37n	missense	9	50.00	9	SNP	0.909	T
HNRNPDL	9987	genome.wustl.edu	37	4	83346751	83346751	+	3'UTR	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:83346751C>G	ENST00000502762.1	-	0	1805				HNRNPDL_ENST00000295470.5_Intron|HNRNPDL_ENST00000602300.1_3'UTR|HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000349655.4_Intron			O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like						regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										GCCTTGCGCTCTGCCCGCAAC	0.512																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000502762.1:c.*92G>C	4.37:g.83346751C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	RNA	SNP	-	NULL	ENST00000502762.1	37	NULL	CCDS3593.1	4																																																																																			HNRPDL	-	-	ENSG00000152795		0.512	HNRNPDL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRPDL	HGNC	protein_coding	OTTHUMT00000363229.2	26	0.00	0	C	NM_005463		83346751	83346751	-1	no_errors	ENST00000514511	ensembl	human	known	69_37n	rna	32	13.51	5	SNP	1.000	G
HOXA10	3206	genome.wustl.edu	37	7	27211758	27211758	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:27211758G>A	ENST00000283921.4	-	2	992	c.993C>T	c.(991-993)ctC>ctT	p.L331L	HOXA-AS4_ENST00000523790.1_RNA|HOXA-AS4_ENST00000519694.1_RNA|RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000521421.1_5'UTR|MIR196B_ENST00000384852.1_RNA|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_5'Flank|HOXA10_ENST00000396344.4_Silent_p.L15L|HOXA-AS4_ENST00000519935.1_RNA	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	331					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						TCTTTGCCGTGAGCCAGTTGG	0.542																																						dbGAP											0													81.0	76.0	77.0					7																	27211758		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"""Homeoboxes / ANTP class : HOXL subclass"""	5100	protein-coding gene	gene with protein product		142957	"""homeo box A10"""	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.993C>T	7.37:g.27211758G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O43370|O43605|Q15949|Q504T1	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.L331	ENST00000283921.4	37	c.993	CCDS5410.2	7																																																																																			HOXA10	-	superfamily_Homeodomain-like	ENSG00000253293		0.542	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HOXA10	HGNC	protein_coding	OTTHUMT00000358724.2	23	0.00	0	G			27211758	27211758	-1	no_errors	ENST00000283921	ensembl	human	known	69_37n	silent	26	25.71	9	SNP	1.000	A
HOXC5	3222	genome.wustl.edu	37	12	54427141	54427141	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:54427141G>T	ENST00000312492.2	+	1	505	c.235G>T	c.(235-237)Gcg>Tcg	p.A79S	MIR615_ENST00000384839.1_RNA|HOXC4_ENST00000303406.4_Intron|RP11-834C11.12_ENST00000513209.1_Intron|RP11-834C11.14_ENST00000512206.1_RNA	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	79					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CTGCAGCGCCGCGGCCGCTCC	0.706																																						dbGAP											0													15.0	19.0	18.0					12																	54427141		2194	4286	6480	-	-	-	SO:0001583	missense	0				CCDS8872.1	12q13.13	2011-06-20	2005-12-22		ENSG00000172789	ENSG00000172789		"""Homeoboxes / ANTP class : HOXL subclass"""	5127	protein-coding gene	gene with protein product		142973	"""homeo box C5"""	HOX3D, HOX3		1973146, 1358459	Standard	NM_018953		Approved		uc001sew.3	Q00444	OTTHUMG00000160028	ENST00000312492.2:c.235G>T	12.37:g.54427141G>T	ENSP00000309336:p.Ala79Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain	p.A79S	ENST00000312492.2	37	c.235	CCDS8872.1	12	.	.	.	.	.	.	.	.	.	.	G	2.530	-0.308731	0.05458	.	.	ENSG00000172789	ENST00000312492	D	0.89746	-2.56	4.78	2.95	0.34219	.	0.137250	0.33959	N	0.004389	T	0.74114	0.3674	N	0.14661	0.345	0.80722	D	1	B	0.17038	0.02	B	0.15484	0.013	T	0.60865	-0.7178	10	0.09338	T	0.73	.	6.5655	0.22509	0.36:0.0:0.64:0.0	.	79	Q00444	HXC5_HUMAN	S	79	ENSP00000309336:A79S	ENSP00000309336:A79S	A	+	1	0	HOXC5	52713408	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	1.889000	0.39718	0.734000	0.32515	0.609000	0.83330	GCG	HOXC5	-	NULL	ENSG00000172789		0.706	HOXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC5	HGNC	protein_coding	OTTHUMT00000358947.1	41	0.00	0	G			54427141	54427141	+1	no_errors	ENST00000312492	ensembl	human	known	69_37n	missense	54	11.48	7	SNP	0.997	T
HPS5	11234	genome.wustl.edu	37	11	18332956	18332956	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:18332956C>A	ENST00000349215.3	-	4	539	c.262G>T	c.(262-264)Gat>Tat	p.D88Y	HPS5_ENST00000531848.1_5'UTR|HPS5_ENST00000396253.3_5'UTR|HPS5_ENST00000438420.2_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	88					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GCAACATAATCATCATCATGT	0.318									Hermansky-Pudlak syndrome																													dbGAP											0													92.0	87.0	89.0					11																	18332956		2199	4293	6492	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.262G>T	11.37:g.18332956C>A	ENSP00000265967:p.Asp88Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.D88Y	ENST00000349215.3	37	c.262	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662727	0.88251	.	.	ENSG00000110756	ENST00000349215	T	0.63913	-0.07	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.044321	0.85682	D	0.000000	T	0.77498	0.4139	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.75657	-0.3242	10	0.38643	T	0.18	.	18.833	0.92148	0.0:1.0:0.0:0.0	.	88	Q9UPZ3	HPS5_HUMAN	Y	88	ENSP00000265967:D88Y	ENSP00000265967:D88Y	D	-	1	0	HPS5	18289532	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.240000	0.51368	2.622000	0.88805	0.455000	0.32223	GAT	HPS5	-	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	ENSG00000110756		0.318	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	22	0.00	0	C	NM_181507		18332956	18332956	-1	no_errors	ENST00000349215	ensembl	human	known	69_37n	missense	18	18.18	4	SNP	1.000	A
HRC	3270	genome.wustl.edu	37	19	49657684	49657684	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:49657684G>A	ENST00000252825.4	-	1	997	c.811C>T	c.(811-813)Cac>Tac	p.H271Y	HRC_ENST00000595625.1_Missense_Mutation_p.H271Y	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	271	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TGGTGCCTGTGAGCCTGGTGT	0.493																																					Melanoma(37;75 1097 24567 25669 30645)	dbGAP											0													166.0	126.0	139.0					19																	49657684		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.811C>T	19.37:g.49657684G>A	ENSP00000252825:p.His271Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504Y6	Missense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.H271Y	ENST00000252825.4	37	c.811	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256097	0.39896	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.45668	0.89	3.33	2.17	0.27698	.	.	.	.	.	T	0.57213	0.2038	M	0.64997	1.995	0.09310	N	1	D	0.62365	0.991	D	0.74023	0.982	T	0.37478	-0.9704	9	0.62326	D	0.03	-6.8578	8.9361	0.35700	0.0:0.2293:0.7707:0.0	.	271	P23327	SRCH_HUMAN	Y	271;241	ENSP00000252825:H271Y	ENSP00000252825:H271Y	H	-	1	0	HRC	54349496	0.135000	0.22499	0.299000	0.25016	0.007000	0.05969	1.077000	0.30741	1.588000	0.49971	0.462000	0.41574	CAC	HRC	-	pfam_Hist_rich_Ca-bd	ENSG00000130528		0.493	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1	53	0.00	0	G	NM_002152		49657684	49657684	-1	no_errors	ENST00000252825	ensembl	human	known	69_37n	missense	63	18.18	14	SNP	0.007	A
IGHG4	3503	genome.wustl.edu	37	14	106090843	106090843	+	RNA	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:106090843C>T	ENST00000390543.2	-	0	953							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										AGAGGCTCTTCTGTGTGTAGT	0.627																																						dbGAP											0													84.0	130.0	115.0					14																	106090843		1964	4174	6138	-	-	-			0			K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106090843C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	p.Q318	ENST00000390543.2	37	c.954		14																																																																																			IGHG4	-	pfscan_Ig-like	ENSG00000211892		0.627	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IGHG4	HGNC	IG_C_gene	OTTHUMT00000326390.1	124	0.00	0	C	NG_001019		106090843	106090843	-1	no_start_codon	ENST00000390543	ensembl	human	known	69_37n	silent	157	16.49	31	SNP	0.369	T
IGKV6D-41	28869	genome.wustl.edu	37	2	90109020	90109020	+	RNA	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:90109020C>T	ENST00000390271.2	+	0	311									immunoglobulin kappa variable 6D-41 (non-functional)																		CCTTTACCATCAGTAGCCTGG	0.498																																						dbGAP											0													89.0	93.0	92.0					2																	90109020		1923	4135	6058	-	-	-			0			X12688		2p11.2	2012-02-10	2008-09-10		ENSG00000211626	ENSG00000211626		"""Immunoglobulins / IGK locus"""	5838	other	immunoglobulin gene			"""immunoglobulin kappa variable 6D-41"""				Standard	NG_000833		Approved				OTTHUMG00000151621		2.37:g.90109020C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.I95	ENST00000390271.2	37	c.285		2																																																																																			IGKV6D-41	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211626		0.498	IGKV6D-41-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV6D-41	HGNC	IG_V_gene	OTTHUMT00000323293.1	61	0.00	0	C	NG_000833		90109020	90109020	+1	no_stop_codon	ENST00000390271	ensembl	human	known	69_37n	silent	84	13.40	13	SNP	1.000	T
IL16	3603	genome.wustl.edu	37	15	81592433	81592433	+	Silent	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr15:81592433C>A	ENST00000302987.4	+	13	2766	c.2766C>A	c.(2764-2766)tcC>tcA	p.S922S	IL16_ENST00000394660.2_Silent_p.S922S|IL16_ENST00000394652.2_Silent_p.S221S			Q14005	IL16_HUMAN	interleukin 16	922					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGTCTGAGTCCCCTCCCCCAG	0.657																																						dbGAP											0													39.0	46.0	43.0					15																	81592433		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2766C>A	15.37:g.81592433C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,prints_Interleukin-16,pfscan_PDZ	p.P226H	ENST00000302987.4	37	c.677	CCDS42069.1	15																																																																																			IL16	-	NULL	ENSG00000172349		0.657	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL16	HGNC	protein_coding	OTTHUMT00000303952.1	34	0.00	0	C	NM_172217		81592433	81592433	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000558332	ensembl	human	putative	69_37n	missense	28	20.00	7	SNP	0.282	A
IL1RL2	8808	genome.wustl.edu	37	2	102851551	102851551	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:102851551C>T	ENST00000264257.2	+	11	1618	c.1492C>T	c.(1492-1494)Cca>Tca	p.P498S	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.P498S|IL1RL2_ENST00000441515.2_Missense_Mutation_p.P380S	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	498	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CACAGTCATGCCAGAGTCAAT	0.493																																						dbGAP											0													166.0	142.0	150.0					2																	102851551		2203	4300	6503	-	-	-	SO:0001583	missense	0			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1492C>T	2.37:g.102851551C>T	ENSP00000264257:p.Pro498Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II,prints_IL1R_rcpt	p.P498S	ENST00000264257.2	37	c.1492	CCDS2056.1	2	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064509	0.55432	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.02158	4.42;4.42;4.42	4.92	4.92	0.64577	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.063315	0.64402	D	0.000005	T	0.16981	0.0408	M	0.88105	2.93	0.53005	D	0.999969	D;D	0.76494	0.999;0.999	D;D	0.79108	0.98;0.992	T	0.01349	-1.1378	10	0.87932	D	0	.	18.4702	0.90771	0.0:1.0:0.0:0.0	.	380;498	A4FU63;Q9HB29	.;ILRL2_HUMAN	S	498;380;498	ENSP00000264257:P498S;ENSP00000413348:P380S;ENSP00000442184:P498S	ENSP00000264257:P498S	P	+	1	0	IL1RL2	102217983	1.000000	0.71417	0.964000	0.40570	0.238000	0.25445	5.677000	0.68142	2.448000	0.82819	0.591000	0.81541	CCA	IL1RL2	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000115598		0.493	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL2	HGNC	protein_coding	OTTHUMT00000253290.1	50	0.00	0	C	NM_003854		102851551	102851551	+1	no_errors	ENST00000264257	ensembl	human	known	69_37n	missense	59	14.49	10	SNP	1.000	T
IMPG2	50939	genome.wustl.edu	37	3	100949878	100949878	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:100949878G>C	ENST00000193391.7	-	16	3532	c.3345C>G	c.(3343-3345)atC>atG	p.I1115M		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1115					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TAGCAGAAAAGATGACAAGAA	0.473																																						dbGAP											0													217.0	197.0	203.0					3																	100949878		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.3345C>G	3.37:g.100949878G>C	ENSP00000193391:p.Ile1115Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.I1115M	ENST00000193391.7	37	c.3345	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666635	0.29604	.	.	ENSG00000081148	ENST00000193391	T	0.29655	1.56	5.91	0.466	0.16716	.	0.638004	0.14959	N	0.288489	T	0.20170	0.0485	L	0.44542	1.39	0.26847	N	0.968243	P;P	0.40875	0.731;0.731	B;B	0.38803	0.282;0.282	T	0.20140	-1.0284	10	0.87932	D	0	-0.0035	1.1522	0.01788	0.1732:0.3194:0.2247:0.2827	.	1115;1115	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	M	1115	ENSP00000193391:I1115M	ENSP00000193391:I1115M	I	-	3	3	IMPG2	102432568	0.970000	0.33590	0.334000	0.25495	0.203000	0.24098	0.172000	0.16704	0.355000	0.24131	-0.182000	0.12963	ATC	IMPG2	-	NULL	ENSG00000081148		0.473	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	53	0.00	0	G			100949878	100949878	-1	no_errors	ENST00000193391	ensembl	human	known	69_37n	missense	55	11.11	7	SNP	0.898	C
ING1	3621	genome.wustl.edu	37	13	111371686	111371686	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr13:111371686G>C	ENST00000375774.3	+	2	1138	c.676G>C	c.(676-678)Gag>Cag	p.E226Q	ING1_ENST00000333219.7_Missense_Mutation_p.E83Q|ING1_ENST00000375775.3_Missense_Mutation_p.E14Q|ING1_ENST00000464141.1_3'UTR|ING1_ENST00000338450.7_Missense_Mutation_p.E39Q	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	226					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CCGCAGCCAGGAGCTGGGCGA	0.657																																						dbGAP											0													46.0	56.0	53.0					13																	111371686		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.676G>C	13.37:g.111371686G>C	ENSP00000364929:p.Glu226Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E226Q	ENST00000375774.3	37	c.676	CCDS9517.1	13	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620898	0.87460	.	.	ENSG00000153487	ENST00000338450;ENST00000333219;ENST00000375775;ENST00000375774	T;T	0.59224	1.0;0.28	5.13	5.13	0.70059	Inhibitor of growth protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77980	0.4212	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.996;0.997	T	0.79257	-0.1878	10	0.46703	T	0.11	-33.3705	18.5935	0.91223	0.0:0.0:1.0:0.0	.	226;83;39	Q9UK53;Q5T9H0;Q9UK53-4	ING1_HUMAN;.;.	Q	39;83;14;226	ENSP00000328436:E83Q;ENSP00000364929:E226Q	ENSP00000328436:E83Q	E	+	1	0	ING1	110169687	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	9.228000	0.95250	2.385000	0.81259	0.484000	0.47621	GAG	ING1	-	NULL	ENSG00000153487		0.657	ING1-004	KNOWN	basic|CCDS	protein_coding	ING1	HGNC	protein_coding	OTTHUMT00000045770.2	52	0.00	0	G	NM_005537		111371686	111371686	+1	no_errors	ENST00000375774	ensembl	human	known	69_37n	missense	66	15.38	12	SNP	1.000	C
INO80	54617	genome.wustl.edu	37	15	41319819	41319819	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr15:41319819G>C	ENST00000361937.3	-	25	3447	c.3023C>G	c.(3022-3024)tCt>tGt	p.S1008C	RP11-540O11.4_ENST00000560178.1_RNA|INO80_ENST00000401393.3_Missense_Mutation_p.S1008C			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1008	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACACAAAAAAGATGGCAGCTC	0.488																																						dbGAP											0													58.0	57.0	57.0					15																	41319819		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3023C>G	15.37:g.41319819G>C	ENSP00000355205:p.Ser1008Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X4|Q9NTG6	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S1008C	ENST00000361937.3	37	c.3023	CCDS10071.1	15	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700060	0.88924	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.91351	-2.83;-2.83	5.7	5.7	0.88788	.	0.123818	0.56097	D	0.000023	D	0.84000	0.5376	N	0.22421	0.69	0.54753	D	0.999988	P	0.45283	0.855	B	0.34038	0.174	D	0.86096	0.1553	10	0.56958	D	0.05	.	19.8247	0.96612	0.0:0.0:1.0:0.0	.	1008	Q9ULG1	INO80_HUMAN	C	1008	ENSP00000355205:S1008C;ENSP00000384686:S1008C	ENSP00000355205:S1008C	S	-	2	0	INO80	39107111	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.683000	0.68189	2.696000	0.92011	0.655000	0.94253	TCT	INO80	-	NULL	ENSG00000128908		0.488	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	HGNC	protein_coding	OTTHUMT00000252527.2	41	0.00	0	G	NM_017553		41319819	41319819	-1	no_errors	ENST00000361937	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	1.000	C
INSR	3643	genome.wustl.edu	37	19	7172440	7172440	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:7172440G>C	ENST00000302850.5	-	5	1271	c.1129C>G	c.(1129-1131)Ctg>Gtg	p.L377V	INSR_ENST00000341500.5_Missense_Mutation_p.L377V	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	377					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TCAGCTGCCAGATTGTCTAAG	0.448																																						dbGAP											0													130.0	121.0	124.0					19																	7172440		2203	4300	6503	-	-	-	SO:0001583	missense	0			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1129C>G	19.37:g.7172440G>C	ENSP00000303830:p.Leu377Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.L377V	ENST00000302850.5	37	c.1129	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457871	0.26161	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.79141	-1.24;-1.24	5.12	2.86	0.33363	EGF receptor, L domain (1);	0.246803	0.20805	N	0.085349	T	0.56891	0.2016	N	0.14661	0.345	0.45129	D	0.998149	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.003;0.004;0.002	T	0.57412	-0.7816	10	0.51188	T	0.08	.	5.1912	0.15210	0.1037:0.0:0.5845:0.3118	.	368;377;377	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	V	377	ENSP00000303830:L377V;ENSP00000342838:L377V	ENSP00000303830:L377V	L	-	1	2	INSR	7123440	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	3.445000	0.52921	2.397000	0.81536	0.561000	0.74099	CTG	INSR	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L	ENSG00000171105		0.448	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	43	0.00	0	G			7172440	7172440	-1	no_errors	ENST00000302850	ensembl	human	known	69_37n	missense	34	27.66	13	SNP	1.000	C
INTS1	26173	genome.wustl.edu	37	7	1539236	1539236	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:1539236G>A	ENST00000404767.3	-	6	802	c.717C>T	c.(715-717)atC>atT	p.I239I	INTS1_ENST00000493531.1_5'UTR|INTS1_ENST00000389470.4_Silent_p.I367I	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	239					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGTCCACCCAGATCCGCTCCC	0.657																																						dbGAP											0													48.0	58.0	55.0					7																	1539236		1981	4161	6142	-	-	-	SO:0001819	synonymous_variant	0			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.717C>T	7.37:g.1539236G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.I367	ENST00000404767.3	37	c.1101	CCDS47526.1	7																																																																																			INTS1	-	NULL	ENSG00000164880		0.657	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	56	0.00	0	G			1539236	1539236	-1	no_errors	ENST00000389470	ensembl	human	known	69_37n	silent	83	12.63	12	SNP	1.000	A
INTS2	57508	genome.wustl.edu	37	17	59984890	59984890	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:59984890C>T	ENST00000444766.3	-	8	1159	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	INTS2_ENST00000251334.6_Missense_Mutation_p.E354K	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	362					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						ACATCAGCTTCTTCCACAATT	0.483																																						dbGAP											0													88.0	80.0	83.0					17																	59984890		1964	4156	6120	-	-	-	SO:0001583	missense	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.1084G>A	17.37:g.59984890C>T	ENSP00000414237:p.Glu362Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULD3	Missense_Mutation	SNP	NULL	p.E362K	ENST00000444766.3	37	c.1084	CCDS45750.1	17	.	.	.	.	.	.	.	.	.	.	C	16.01	3.002001	0.54254	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.42900	0.96	5.87	5.87	0.94306	.	0.045202	0.85682	D	0.000000	T	0.29028	0.0721	N	0.14661	0.345	0.80722	D	1	P	0.40731	0.728	B	0.36092	0.217	T	0.04216	-1.0968	9	.	.	.	-15.6043	20.2087	0.98285	0.0:1.0:0.0:0.0	.	362	Q9H0H0	INT2_HUMAN	K	362;361	ENSP00000414237:E362K	.	E	-	1	0	INTS2	57339672	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.532000	0.67154	2.791000	0.96007	0.655000	0.94253	GAA	INTS2	-	NULL	ENSG00000108506		0.483	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	HGNC	protein_coding	OTTHUMT00000445368.1	69	0.00	0	C	NM_020748		59984890	59984890	-1	no_errors	ENST00000444766	ensembl	human	known	69_37n	missense	64	12.33	9	SNP	1.000	T
INTS2	57508	genome.wustl.edu	37	17	59984941	59984941	+	Silent	SNP	G	G	A	rs369992812		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:59984941G>A	ENST00000444766.3	-	8	1108	c.1033C>T	c.(1033-1035)Ctg>Ttg	p.L345L	INTS2_ENST00000251334.6_Silent_p.L337L	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	345					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						ATCAACTCCAGAAGAAGCTGC	0.448																																						dbGAP											0													63.0	58.0	60.0					17																	59984941		1912	4117	6029	-	-	-	SO:0001819	synonymous_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.1033C>T	17.37:g.59984941G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULD3	Silent	SNP	NULL	p.L345	ENST00000444766.3	37	c.1033	CCDS45750.1	17																																																																																			INTS2	-	NULL	ENSG00000108506		0.448	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	HGNC	protein_coding	OTTHUMT00000445368.1	53	0.00	0	G	NM_020748		59984941	59984941	-1	no_errors	ENST00000444766	ensembl	human	known	69_37n	silent	45	25.00	15	SNP	1.000	A
INTS4	92105	genome.wustl.edu	37	11	77671428	77671428	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:77671428G>T	ENST00000534064.1	-	6	701	c.667C>A	c.(667-669)Cat>Aat	p.H223N	INTS4_ENST00000529807.1_Missense_Mutation_p.H223N	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	223					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CCTCTTTCATGGAGCTGCAAC	0.393																																						dbGAP											0													109.0	109.0	109.0					11																	77671428		2200	4292	6492	-	-	-	SO:0001583	missense	0			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.667C>A	11.37:g.77671428G>T	ENSP00000434466:p.His223Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.H223N	ENST00000534064.1	37	c.667	CCDS31644.1	11	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333029	0.41297	.	.	ENSG00000149262	ENST00000534064;ENST00000354849;ENST00000529807	T;T	0.16196	2.36;2.36	4.0	3.09	0.35607	Armadillo-like helical (1);Armadillo-type fold (1);	0.058186	0.64402	D	0.000002	T	0.16214	0.0390	M	0.70275	2.135	0.80722	D	1	P	0.41748	0.761	B	0.39562	0.303	T	0.12066	-1.0562	10	0.02654	T	1	-13.8835	10.6293	0.45527	0.0947:0.0:0.9053:0.0	.	223	Q96HW7	INT4_HUMAN	N	223;74;223	ENSP00000434466:H223N;ENSP00000433644:H223N	ENSP00000346913:H74N	H	-	1	0	INTS4	77349076	1.000000	0.71417	0.999000	0.59377	0.845000	0.48019	7.811000	0.86092	0.890000	0.36211	-0.218000	0.12543	CAT	INTS4	-	superfamily_ARM-type_fold	ENSG00000149262		0.393	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS4	HGNC	protein_coding	OTTHUMT00000390927.1	64	0.00	0	G	NM_033547		77671428	77671428	-1	no_errors	ENST00000534064	ensembl	human	known	69_37n	missense	61	12.86	9	SNP	1.000	T
INTS4	92105	genome.wustl.edu	37	11	77672127	77672127	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:77672127G>C	ENST00000534064.1	-	5	563	c.529C>G	c.(529-531)Ctt>Gtt	p.L177V	INTS4_ENST00000529807.1_Missense_Mutation_p.L177V	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	177					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AAAGAGCCAAGATTGCCAAGT	0.378																																						dbGAP											0													158.0	152.0	154.0					11																	77672127		2200	4292	6492	-	-	-	SO:0001583	missense	0			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.529C>G	11.37:g.77672127G>C	ENSP00000434466:p.Leu177Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.L177V	ENST00000534064.1	37	c.529	CCDS31644.1	11	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921727	0.73213	.	.	ENSG00000149262	ENST00000534064;ENST00000354849;ENST00000529807	T;T	0.72051	-0.62;1.11	4.48	4.48	0.54585	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80529	0.4640	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.81097	-0.1087	10	0.49607	T	0.09	-12.6123	17.7013	0.88295	0.0:0.0:1.0:0.0	.	177	Q96HW7	INT4_HUMAN	V	177;28;177	ENSP00000434466:L177V;ENSP00000433644:L177V	ENSP00000346913:L28V	L	-	1	0	INTS4	77349775	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.535000	0.73838	2.471000	0.83476	0.650000	0.86243	CTT	INTS4	-	superfamily_ARM-type_fold	ENSG00000149262		0.378	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS4	HGNC	protein_coding	OTTHUMT00000390927.1	46	0.00	0	G	NM_033547		77672127	77672127	-1	no_errors	ENST00000534064	ensembl	human	known	69_37n	missense	36	14.29	6	SNP	1.000	C
INTS8	55656	genome.wustl.edu	37	8	95892416	95892416	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:95892416G>A	ENST00000523731.1	+	27	3075	c.2942G>A	c.(2941-2943)aGa>aAa	p.R981K	INTS8_ENST00000447247.1_Missense_Mutation_p.R964K|CCNE2_ENST00000520509.1_3'UTR	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	981					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GCAGCGCAGAGAAGGAAAAAA	0.343																																						dbGAP											0													80.0	80.0	80.0					8																	95892416		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.2942G>A	8.37:g.95892416G>A	ENSP00000430338:p.Arg981Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	NULL	p.R981K	ENST00000523731.1	37	c.2942	CCDS34925.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.25|14.25	2.477974|2.477974	0.44044|0.44044	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000520526|ENST00000523731;ENST00000447247	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.040925	.|0.85682	.|D	.|0.000000	T|T	0.45955|0.45955	0.1368|0.1368	N|N	0.17474|0.17474	0.49|0.49	0.80722|0.80722	D|D	1|1	.|B	.|0.12630	.|0.006	.|B	.|0.10450	.|0.005	T|T	0.46679|0.46679	-0.9174|-0.9174	5|9	.|0.02654	.|T	.|1	-11.6794|-11.6794	20.1241|20.1241	0.97973|0.97973	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|981	.|Q75QN2	.|INT8_HUMAN	K|K	786|981;964	.|.	.|ENSP00000398203:R964K	E|R	+|+	1|2	0|0	INTS8|INTS8	95961592|95961592	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.674000|6.674000	0.74487|0.74487	2.760000|2.760000	0.94817|0.94817	0.651000|0.651000	0.88453|0.88453	GAA|AGA	INTS8	-	NULL	ENSG00000164941		0.343	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS8	HGNC	protein_coding	OTTHUMT00000379794.1	26	0.00	0	G	NM_017864		95892416	95892416	+1	no_errors	ENST00000523731	ensembl	human	known	69_37n	missense	28	24.32	9	SNP	1.000	A
IQCA1P1	392843	genome.wustl.edu	37	7	150888108	150888108	+	RNA	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:150888108C>T	ENST00000602518.1	-	0	785							A6NCM1	IQCAL_HUMAN	IQ motif containing with AAA domain 1 pseudogene 1								ATP binding (GO:0005524)										TTGGCCTCCTCGGCCTCCAAC	0.577																																						dbGAP											0																																										-	-	-			0					7q36.1	2014-04-09	2011-04-28	2011-04-28	ENSG00000183016	ENSG00000278685			22831	other	unknown			"""IQ motif containing with AAA domain 1-like"""	IQCA1L			Standard	XR_426269		Approved	TCAG_9762		A6NCM1	OTTHUMG00000156140		7.37:g.150888108C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000602518.1	37	NULL		7																																																																																			IQCA1P1	-	-	ENSG00000183016		0.577	IQCA1P1-004	KNOWN	basic	processed_transcript	IQCA1P1	HGNC	pseudogene	OTTHUMT00000467767.1	163	0.00	0	C			150888108	150888108	-1	no_errors	ENST00000453127	ensembl	human	known	69_37n	rna	183	12.02	25	SNP	0.953	T
IQCD	115811	genome.wustl.edu	37	12	113633544	113633544	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:113633544C>G	ENST00000416617.2	-	5	1376	c.1186G>C	c.(1186-1188)Gag>Cag	p.E396Q	IQCD_ENST00000299732.2_Missense_Mutation_p.E294Q			Q96DY2	IQCD_HUMAN	IQ motif containing D	396										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CGCACCATCTCCTGCTCTGCC	0.612																																						dbGAP											0													148.0	130.0	136.0					12																	113633544		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 10"""					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.1186G>C	12.37:g.113633544C>G	ENSP00000400669:p.Glu396Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZSU0	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.E396Q	ENST00000416617.2	37	c.1186		12	.	.	.	.	.	.	.	.	.	.	C	15.21	2.767322	0.49574	.	.	ENSG00000166578	ENST00000299732;ENST00000416617	T;T	0.54479	2.91;0.57	4.14	3.22	0.36961	.	.	.	.	.	T	0.49098	0.1537	.	.	.	0.80722	D	1	P	0.43231	0.801	B	0.40940	0.344	T	0.54741	-0.8248	8	0.72032	D	0.01	-20.1818	12.6907	0.56972	0.0:0.8321:0.1679:0.0	.	294	Q96DY2-2	.	Q	294;396	ENSP00000299732:E294Q;ENSP00000400669:E396Q	ENSP00000299732:E294Q	E	-	1	0	IQCD	112117927	0.997000	0.39634	0.996000	0.52242	0.661000	0.39034	1.522000	0.35921	0.930000	0.37217	0.561000	0.74099	GAG	IQCD	-	NULL	ENSG00000166578		0.612	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	IQCD	HGNC	protein_coding	OTTHUMT00000405327.1	83	0.00	0	C	NM_138451		113633544	113633544	-1	no_errors	ENST00000416617	ensembl	human	known	69_37n	missense	98	15.52	18	SNP	1.000	G
IREB2	3658	genome.wustl.edu	37	15	78765656	78765656	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr15:78765656G>A	ENST00000258886.8	+	8	1105	c.956G>A	c.(955-957)gGa>gAa	p.G319E	IREB2_ENST00000560440.1_Missense_Mutation_p.G319E	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	319					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GAGGTGGTTGGATGTGAGTTA	0.398																																					NSCLC(200;764 2208 35157 49871 50830)	dbGAP											0													267.0	238.0	248.0					15																	78765656		2196	4293	6489	-	-	-	SO:0001583	missense	0			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.956G>A	15.37:g.78765656G>A	ENSP00000258886:p.Gly319Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.G319E	ENST00000258886.8	37	c.956	CCDS10302.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.472860	0.96274	.	.	ENSG00000136381	ENST00000258886	T	0.48522	0.81	6.08	6.08	0.98989	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.79009	0.4374	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82955	-0.0200	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	319;319	P48200;Q8WVK6	IREB2_HUMAN;.	E	319	ENSP00000258886:G319E	ENSP00000258886:G319E	G	+	2	0	IREB2	76552711	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.632000	0.98428	2.894000	0.99253	0.591000	0.81541	GGA	IREB2	-	pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	ENSG00000136381		0.398	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IREB2	HGNC	protein_coding	OTTHUMT00000290109.3	87	0.00	0	G	NM_004136		78765656	78765656	+1	no_errors	ENST00000258886	ensembl	human	known	69_37n	missense	78	15.22	14	SNP	1.000	A
IRF8	3394	genome.wustl.edu	37	16	85936785	85936785	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:85936785C>A	ENST00000268638.5	+	2	586	c.164C>A	c.(163-165)tCc>tAc	p.S55Y	IRF8_ENST00000563180.1_Missense_Mutation_p.S55Y	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	55					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GTGGATGCCTCCATTTTTAAG	0.478																																						dbGAP											0													72.0	68.0	70.0					16																	85936785		2198	4300	6498	-	-	-	SO:0001583	missense	0			M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.164C>A	16.37:g.85936785C>A	ENSP00000268638:p.Ser55Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV82	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.S55Y	ENST00000268638.5	37	c.164	CCDS10956.1	16	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268820	0.80469	.	.	ENSG00000140968	ENST00000268638	D	0.97850	-4.57	5.58	5.58	0.84498	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.112568	0.64402	D	0.000006	D	0.98220	0.9411	L	0.52573	1.65	0.80722	D	1	D;D	0.76494	0.999;0.994	D;D	0.81914	0.995;0.95	D	0.99593	1.0976	10	0.72032	D	0.01	-37.9646	19.1701	0.93574	0.0:1.0:0.0:0.0	.	55;55	B2R8V7;Q02556	.;IRF8_HUMAN	Y	55	ENSP00000268638:S55Y	ENSP00000268638:S55Y	S	+	2	0	IRF8	84494286	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	5.623000	0.67757	2.625000	0.88918	0.555000	0.69702	TCC	IRF8	-	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	ENSG00000140968		0.478	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF8	HGNC	protein_coding	OTTHUMT00000269100.2	31	0.00	0	C	NM_002163		85936785	85936785	+1	no_errors	ENST00000268638	ensembl	human	known	69_37n	missense	21	36.36	12	SNP	1.000	A
IRS4	8471	genome.wustl.edu	37	X	107979343	107979343	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:107979343C>T	ENST00000372129.2	-	1	308	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	78	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TTGCAGACTTCCTCCCCGACG	0.637																																						dbGAP											0													52.0	42.0	45.0					X																	107979343		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.232G>A	X.37:g.107979343C>T	ENSP00000361202:p.Glu78Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.E78K	ENST00000372129.2	37	c.232	CCDS14544.1	X	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329380	0.81690	.	.	ENSG00000133124	ENST00000372129	T	0.72505	-0.66	3.8	3.8	0.43715	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.062843	0.64402	D	0.000009	T	0.72645	0.3486	L	0.29908	0.895	0.49389	D	0.999784	D	0.67145	0.996	P	0.60415	0.874	T	0.75074	-0.3446	10	0.46703	T	0.11	-9.4274	15.5517	0.76158	0.0:1.0:0.0:0.0	.	78	O14654	IRS4_HUMAN	K	78	ENSP00000361202:E78K	ENSP00000361202:E78K	E	-	1	0	IRS4	107865999	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	5.608000	0.67654	1.913000	0.55393	0.529000	0.55759	GAA	IRS4	-	pfscan_Pleckstrin_homology	ENSG00000133124		0.637	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	78	0.00	0	C	NM_003604		107979343	107979343	-1	no_errors	ENST00000372129	ensembl	human	known	69_37n	missense	74	23.71	23	SNP	1.000	T
ITCH	83737	genome.wustl.edu	37	20	33037238	33037238	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:33037238C>T	ENST00000262650.6	+	13	1422	c.1286C>T	c.(1285-1287)tCa>tTa	p.S429L	ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Missense_Mutation_p.S278L|ITCH_ENST00000374864.4_Missense_Mutation_p.S388L|ITCH-IT1_ENST00000418598.1_RNA			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	429	Required for interaction with FYN.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TTTGCTACATCACAAAGTAAA	0.343																																						dbGAP											0													181.0	173.0	176.0					20																	33037238		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1286C>T	20.37:g.33037238C>T	ENSP00000262650:p.Ser429Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.S429L	ENST00000262650.6	37	c.1286	CCDS58768.1	20	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568437	0.65651	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.33865	1.39;1.41;1.78	5.8	5.8	0.92144	WW/Rsp5/WWP (1);	1.405270	0.04182	N	0.326698	T	0.35970	0.0950	N	0.19112	0.55	0.44627	D	0.997609	B;B;B	0.17667	0.009;0.005;0.023	B;B;B	0.17098	0.004;0.017;0.017	T	0.05370	-1.0889	10	0.42905	T	0.14	.	19.6657	0.95891	0.0:1.0:0.0:0.0	.	340;429;388	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	L	388;278;429	ENSP00000363998:S388L;ENSP00000445608:S278L;ENSP00000262650:S429L	ENSP00000262650:S429L	S	+	2	0	ITCH	32500899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.287000	0.59001	2.744000	0.94065	0.655000	0.94253	TCA	ITCH	-	superfamily_WW_Rsp5_WWP	ENSG00000078747		0.343	ITCH-002	KNOWN	basic|CCDS	protein_coding	ITCH	HGNC	protein_coding	OTTHUMT00000078783.2	92	0.00	0	C			33037238	33037238	+1	no_errors	ENST00000262650	ensembl	human	known	69_37n	missense	78	12.22	11	SNP	1.000	T
ITGA6	3655	genome.wustl.edu	37	2	173335758	173335758	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:173335758G>A	ENST00000264106.6	+	5	903	c.700G>A	c.(700-702)Gat>Aat	p.D234N	ITGA6_ENST00000409080.1_Missense_Mutation_p.D234N|ITGA6_ENST00000409532.1_Intron|ITGA6_ENST00000375221.2_Missense_Mutation_p.D234N|ITGA6_ENST00000264107.7_Missense_Mutation_p.D234N|ITGA6_ENST00000343713.4_Intron			P23229	ITA6_HUMAN	integrin, alpha 6	234					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CATCTTTGAAGATGGGCCTTA	0.398																																						dbGAP											0													148.0	128.0	135.0					2																	173335758		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.700G>A	2.37:g.173335758G>A	ENSP00000264106:p.Asp234Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.D234N	ENST00000264106.6	37	c.700		2	.	.	.	.	.	.	.	.	.	.	G	35	5.512226	0.96402	.	.	ENSG00000091409	ENST00000412899;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000409080;ENST00000442250	T;T;T;T;T;T	0.72615	-0.57;-0.57;-0.67;-0.67;-0.57;-0.67	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.77705	0.4170	L	0.43923	1.385	0.80722	D	1	P;P	0.49358	0.538;0.923	B;P	0.55999	0.382;0.789	T	0.79037	-0.1967	10	0.87932	D	0	.	19.7126	0.96102	0.0:0.0:1.0:0.0	.	234;234	G5E9H1;P23229-2	.;.	N	120;234;234;234;234;234	ENSP00000413470:D120N;ENSP00000264107:D234N;ENSP00000264106:D234N;ENSP00000364369:D234N;ENSP00000386896:D234N;ENSP00000406694:D234N	ENSP00000264106:D234N	D	+	1	0	ITGA6	173044004	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.664000	0.90586	0.650000	0.86243	GAT	ITGA6	-	NULL	ENSG00000091409		0.398	ITGA6-201	KNOWN	basic	protein_coding	ITGA6	HGNC	protein_coding		65	0.00	0	G			173335758	173335758	+1	no_errors	ENST00000264106	ensembl	human	known	69_37n	missense	59	13.24	9	SNP	1.000	A
ITSN1	6453	genome.wustl.edu	37	21	35172111	35172111	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr21:35172111G>A	ENST00000381318.3	+	19	2470		c.e19-1		AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Splice_Site|ITSN1_ENST00000399355.2_Splice_Site|ITSN1_ENST00000381285.4_Splice_Site|ITSN1_ENST00000399326.3_Splice_Site|ITSN1_ENST00000399349.1_Splice_Site|ITSN1_ENST00000399352.1_Splice_Site|ITSN1_ENST00000399353.1_Splice_Site|ITSN1_ENST00000399338.4_Splice_Site|ITSN1_ENST00000399367.3_Splice_Site|ITSN1_ENST00000379960.5_Splice_Site|ITSN1_ENST00000381291.4_Splice_Site	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)						apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TTTGTAAACAGAAAAAGGTCC	0.388																																						dbGAP											0													60.0	63.0	62.0					21																	35172111		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2183-1G>A	21.37:g.35172111G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Splice_Site	SNP	-	e18-1	ENST00000381318.3	37	c.2183-1	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711372	0.68730	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2694	0.94003	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITSN1	34093981	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.808000	0.86044	2.563000	0.86464	0.557000	0.71058	.	ITSN1	-	-	ENSG00000205726		0.388	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	55	0.00	0	G	NM_003024	Intron	35172111	35172111	+1	no_errors	ENST00000381285	ensembl	human	known	69_37n	splice_site	48	21.31	13	SNP	1.000	A
JAKMIP3	282973	genome.wustl.edu	37	10	133978209	133978209	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr10:133978209G>C	ENST00000298622.4	+	20	2592	c.2454G>C	c.(2452-2454)caG>caC	p.Q818H	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	818						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TAGAAGCTCAGAAGAGACAAA	0.413																																						dbGAP											0													87.0	94.0	92.0					10																	133978209		2202	4299	6501	-	-	-	SO:0001583	missense	0			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.2454G>C	10.37:g.133978209G>C	ENSP00000298622:p.Gln818His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	NULL	p.Q818H	ENST00000298622.4	37	c.2454	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545306	0.45280	.	.	ENSG00000188385	ENST00000298622	T	0.27104	1.69	3.77	2.85	0.33270	.	.	.	.	.	T	0.37544	0.1007	L	0.53249	1.67	0.37116	D	0.900583	D;D	0.89917	1.0;0.994	D;D	0.87578	0.998;0.991	T	0.39187	-0.9626	9	0.40728	T	0.16	.	3.6247	0.08109	0.3779:0.0:0.6221:0.0	.	255;818	Q5VZ66-2;Q5VZ66	.;JKIP3_HUMAN	H	818	ENSP00000298622:Q818H	ENSP00000298622:Q818H	Q	+	3	2	JAKMIP3	133828199	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.758000	0.38410	2.128000	0.65567	0.558000	0.71614	CAG	JAKMIP3	-	NULL	ENSG00000188385		0.413	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	12	0.00	0	G	NM_194303		133978209	133978209	+1	no_errors	ENST00000298622	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	1.000	C
KAT6A	7994	genome.wustl.edu	37	8	41791980	41791980	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:41791980G>A	ENST00000396930.3	-	18	4301	c.3758C>T	c.(3757-3759)tCt>tTt	p.S1253F	KAT6A_ENST00000265713.2_Missense_Mutation_p.S1253F|KAT6A_ENST00000406337.1_Missense_Mutation_p.S1253F	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1253					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GTCTGCTGGAGAGGCTGCTGG	0.587																																						dbGAP											0													71.0	50.0	57.0					8																	41791980		2202	4300	6502	-	-	-	SO:0001583	missense	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3758C>T	8.37:g.41791980G>A	ENSP00000380136:p.Ser1253Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S1253F	ENST00000396930.3	37	c.3758	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320681	0.23994	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.60672	0.17;0.17;0.17	5.95	5.95	0.96441	.	0.150870	0.47093	N	0.000243	T	0.67878	0.2940	L	0.27053	0.805	0.47994	D	0.999562	D	0.71674	0.998	D	0.78314	0.991	T	0.69075	-0.5241	10	0.62326	D	0.03	-12.4077	20.3854	0.98941	0.0:0.0:1.0:0.0	.	1253	Q92794	KAT6A_HUMAN	F	1253	ENSP00000265713:S1253F;ENSP00000385888:S1253F;ENSP00000380136:S1253F	ENSP00000265713:S1253F	S	-	2	0	KAT6A	41911137	1.000000	0.71417	0.914000	0.36105	0.094000	0.18550	5.081000	0.64444	2.825000	0.97269	0.655000	0.94253	TCT	KAT6A	-	NULL	ENSG00000083168		0.587	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	96	0.00	0	G	NM_006766		41791980	41791980	-1	no_errors	ENST00000265713	ensembl	human	known	69_37n	missense	102	14.29	17	SNP	0.995	A
KCNA4	3739	genome.wustl.edu	37	11	30033478	30033478	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:30033478C>G	ENST00000328224.6	-	2	1981	c.748G>C	c.(748-750)Gat>Cat	p.D250H	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	250					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GTGAAGATATCAAAGGGGACA	0.498																																						dbGAP											0													98.0	87.0	91.0					11																	30033478		1869	4127	5996	-	-	-	SO:0001583	missense	0			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.748G>C	11.37:g.30033478C>G	ENSP00000328511:p.Asp250His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.D250H	ENST00000328224.6	37	c.748	CCDS41629.1	11	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023185	0.75275	.	.	ENSG00000182255	ENST00000328224	T	0.77358	-1.09	4.94	4.94	0.65067	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.87779	0.6263	M	0.83603	2.65	0.80722	D	1	D	0.63880	0.993	P	0.60236	0.871	D	0.90007	0.4118	10	0.87932	D	0	.	18.1944	0.89817	0.0:1.0:0.0:0.0	.	250	P22459	KCNA4_HUMAN	H	250	ENSP00000328511:D250H	ENSP00000328511:D250H	D	-	1	0	KCNA4	29990054	1.000000	0.71417	0.954000	0.39281	0.976000	0.68499	7.787000	0.85759	2.297000	0.77311	0.655000	0.94253	GAT	KCNA4	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000182255		0.498	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2	27	0.00	0	C	NM_002233		30033478	30033478	-1	no_errors	ENST00000328224	ensembl	human	known	69_37n	missense	16	38.46	10	SNP	1.000	G
KCNIP3	30818	genome.wustl.edu	37	2	96051535	96051535	+	3'UTR	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:96051535C>G	ENST00000295225.5	+	0	2644				KCNIP3_ENST00000360990.3_3'UTR|KCNIP3_ENST00000377181.2_3'UTR	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin						apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		CAGGGATCTTCTCCCTCCCCT	0.672																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"""EF-hand domain containing"""	15523	protein-coding gene	gene with protein product		604662	"""calsenilin, presenilin-binding protein, EF hand transcription factor"""	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.*1738C>G	2.37:g.96051535C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	RNA	SNP	-	NULL	ENST00000295225.5	37	NULL	CCDS2013.1	2																																																																																			KCNIP3	-	-	ENSG00000115041		0.672	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	KCNIP3	HGNC	protein_coding	OTTHUMT00000252770.1	41	0.00	0	C	NM_013434		96051535	96051535	+1	no_errors	ENST00000377181	ensembl	human	known	69_37n	rna	44	22.81	13	SNP	0.002	G
KCNH7	90134	genome.wustl.edu	37	2	163241399	163241399	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:163241399G>A	ENST00000332142.5	-	13	2860	c.2761C>T	c.(2761-2763)Cag>Tag	p.Q921*		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	921					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TTGGAACTCTGATAATGTCTT	0.343																																					GBM(196;1492 2208 17507 24132 45496)	dbGAP											0													165.0	157.0	160.0					2																	163241399		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2761C>T	2.37:g.163241399G>A	ENSP00000331727:p.Gln921*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.Q921*	ENST00000332142.5	37	c.2761	CCDS2219.1	2	.	.	.	.	.	.	.	.	.	.	G	38	7.260520	0.98171	.	.	ENSG00000184611	ENST00000332142	.	.	.	5.6	5.6	0.85130	.	0.351766	0.30969	N	0.008501	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	12.8851	0.58038	0.0741:0.0:0.9259:0.0	.	.	.	.	X	921	.	ENSP00000331727:Q921X	Q	-	1	0	KCNH7	162949645	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.212000	0.65225	2.650000	0.89964	0.655000	0.94253	CAG	KCNH7	-	NULL	ENSG00000184611		0.343	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	HGNC	protein_coding	OTTHUMT00000255093.1	56	0.00	0	G	NM_033272		163241399	163241399	-1	no_errors	ENST00000332142	ensembl	human	known	69_37n	nonsense	49	10.91	6	SNP	1.000	A
KCNU1	157855	genome.wustl.edu	37	8	36666298	36666298	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:36666298G>A	ENST00000399881.3	+	7	756	c.719G>A	c.(718-720)gGa>gAa	p.G240E		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	240					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACAGCTGCGGGATTCATTCAC	0.453																																						dbGAP											0													125.0	118.0	120.0					8																	36666298		1891	4128	6019	-	-	-	SO:0001583	missense	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.719G>A	8.37:g.36666298G>A	ENSP00000382770:p.Gly240Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu	p.G240E	ENST00000399881.3	37	c.719	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672243	0.47781	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	T;T	0.07114	3.22;3.22	5.21	4.32	0.51571	Ion transport (1);	0.000000	0.37136	U	0.002237	T	0.22322	0.0538	L	0.48362	1.52	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00585	-1.1658	10	0.87932	D	0	-0.0183	13.9811	0.64306	0.0:0.0:0.8467:0.1532	.	240	A8MYU2	KCNU1_HUMAN	E	240	ENSP00000429951:G240E;ENSP00000382770:G240E	ENSP00000382770:G240E	G	+	2	0	KCNU1	36785456	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	8.495000	0.90481	1.180000	0.42898	-0.181000	0.13052	GGA	KCNU1	-	pfam_Ion_trans_2	ENSG00000215262		0.453	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	83	0.00	0	G	NM_001031836		36666298	36666298	+1	no_errors	ENST00000399881	ensembl	human	known	69_37n	missense	71	10.13	8	SNP	1.000	A
KDM3B	51780	genome.wustl.edu	37	5	137722119	137722119	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:137722119G>C	ENST00000314358.5	+	7	1389	c.1189G>C	c.(1189-1191)Gag>Cag	p.E397Q	KDM3B_ENST00000542866.1_5'Flank|KDM3B_ENST00000394866.1_Missense_Mutation_p.E53Q	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	397					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTTGGCCCCAGAGGTGGGTGG	0.572																																						dbGAP											0													107.0	121.0	116.0					5																	137722119		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.1189G>C	5.37:g.137722119G>C	ENSP00000326563:p.Glu397Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.E397Q	ENST00000314358.5	37	c.1189	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017294	0.54576	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.71103	0.08;-0.54	5.73	5.73	0.89815	.	0.226724	0.39083	N	0.001465	T	0.49338	0.1551	N	0.14661	0.345	0.80722	D	1	B;B	0.33694	0.403;0.421	B;B	0.28305	0.088;0.081	T	0.49943	-0.8885	10	0.23302	T	0.38	-15.6158	10.763	0.46277	0.0864:0.0:0.9136:0.0	.	53;397	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	Q	397;187;53	ENSP00000326563:E397Q;ENSP00000378335:E53Q	ENSP00000326563:E397Q	E	+	1	0	KDM3B	137750018	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.182000	0.50910	2.687000	0.91594	0.655000	0.94253	GAG	KDM3B	-	NULL	ENSG00000120733		0.572	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	38	0.00	0	G	NM_016604		137722119	137722119	+1	no_errors	ENST00000314358	ensembl	human	known	69_37n	missense	26	18.75	6	SNP	1.000	C
KDM4B	23030	genome.wustl.edu	37	19	5077436	5077436	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:5077436C>T	ENST00000159111.4	+	8	953	c.735C>T	c.(733-735)ctC>ctT	p.L245L	KDM4B_ENST00000381759.4_Silent_p.L245L|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Silent_p.L245L	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	245	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGATGACCCTCATCTCGCCCA	0.642																																						dbGAP											0													135.0	135.0	135.0					19																	5077436		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.735C>T	19.37:g.5077436C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.L245	ENST00000159111.4	37	c.735	CCDS12138.1	19																																																																																			KDM4B	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000127663		0.642	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1	50	0.00	0	C	NM_015015		5077436	5077436	+1	no_errors	ENST00000159111	ensembl	human	known	69_37n	silent	63	22.22	18	SNP	1.000	T
KDM4B	23030	genome.wustl.edu	37	19	5131263	5131263	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:5131263G>A	ENST00000159111.4	+	12	1710	c.1492G>A	c.(1492-1494)Gag>Aag	p.E498K	KDM4B_ENST00000536461.1_Missense_Mutation_p.E532K	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	498	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TGCAGCCATGGAGGAGAGCCC	0.692																																						dbGAP											0													10.0	14.0	13.0					19																	5131263		2180	4280	6460	-	-	-	SO:0001583	missense	0			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.1492G>A	19.37:g.5131263G>A	ENSP00000159111:p.Glu498Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Nonsense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.W243*	ENST00000159111.4	37	c.729	CCDS12138.1	19	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402574	0.62288	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.19105	2.19;2.17	4.47	4.47	0.54385	.	5.833520	0.00465	N	0.000104	T	0.30947	0.0781	L	0.43152	1.355	0.31381	N	0.678963	P;P	0.47409	0.728;0.895	B;P	0.46975	0.297;0.533	T	0.31724	-0.9933	10	0.20519	T	0.43	-23.4736	15.3229	0.74135	0.0:0.0:1.0:0.0	.	532;498	F5GX28;O94953	.;KDM4B_HUMAN	K	498;532	ENSP00000159111:E498K;ENSP00000440495:E532K	ENSP00000159111:E498K	E	+	1	0	KDM4B	5082263	0.993000	0.37304	0.678000	0.29963	0.004000	0.04260	2.626000	0.46460	2.031000	0.59945	0.561000	0.74099	GAG	KDM4B	-	NULL	ENSG00000127663		0.692	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1	21	0.00	0	G	NM_015015		5131263	5131263	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000588361	ensembl	human	putative	69_37n	nonsense	17	19.05	4	SNP	0.788	A
KIAA0368	23392	genome.wustl.edu	37	9	114172339	114172339	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:114172339G>A	ENST00000338205.5	-	22	2751	c.2532C>T	c.(2530-2532)tcC>tcT	p.S844S	KIAA0368_ENST00000374378.3_5'Flank|RNA5SP294_ENST00000411306.1_RNA|KIAA0368_ENST00000259335.4_Silent_p.S1022S			Q5VYK3	ECM29_HUMAN	KIAA0368	850					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTTCTTTACTGGAAGGTATTC	0.358																																						dbGAP											0													26.0	25.0	26.0					9																	114172339		1809	4078	5887	-	-	-	SO:0001819	synonymous_variant	0			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.2532C>T	9.37:g.114172339G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O15074|Q8WU82	Silent	SNP	superfamily_ARM-type_fold	p.S1022	ENST00000338205.5	37	c.3066		9																																																																																			KIAA0368	-	superfamily_ARM-type_fold	ENSG00000136813		0.358	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	HGNC	protein_coding	OTTHUMT00000053637.2	51	0.00	0	G	NM_014686		114172339	114172339	-1	no_errors	ENST00000259335	ensembl	human	known	69_37n	silent	43	23.21	13	SNP	1.000	A
KIAA0391	9692	genome.wustl.edu	37	14	35596720	35596720	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:35596720C>T	ENST00000557565.1	+	4	1451	c.1070C>T	c.(1069-1071)tCt>tTt	p.S357F	KIAA0391_ENST00000603544.1_Missense_Mutation_p.S341F|KIAA0391_ENST00000605870.1_5'UTR|KIAA0391_ENST00000604948.1_Missense_Mutation_p.S262F|KIAA0391_ENST00000603588.1_3'UTR|KIAA0391_ENST00000321130.10_Missense_Mutation_p.S341F|KIAA0391_ENST00000250377.7_Missense_Mutation_p.S262F|KIAA0391_ENST00000534898.4_Missense_Mutation_p.S357F	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	357					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		ACCATAGAGTCTATTCAGCTG	0.363																																						dbGAP											0													72.0	71.0	71.0					14																	35596720		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.1070C>T	14.37:g.35596720C>T	ENSP00000454657:p.Ser357Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Missense_Mutation	SNP	NULL	p.S357F	ENST00000557565.1	37	c.1070	CCDS32063.1	14	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243164	0.58995	.	.	ENSG00000100890	ENST00000554896;ENST00000250377;ENST00000321130;ENST00000534898;ENST00000556121	T;T;T	0.51071	0.76;0.73;0.72	5.74	4.85	0.62838	.	0.197147	0.44902	D	0.000418	T	0.63498	0.2516	M	0.76574	2.34	0.26994	N	0.96506	D;D	0.61080	0.989;0.989	P;P	0.62298	0.9;0.9	T	0.59669	-0.7411	10	0.54805	T	0.06	-10.1563	10.8107	0.46545	0.2703:0.6112:0.1184:0.0	.	341;357	O15091-2;O15091	.;MRRP3_HUMAN	F	262;262;341;357;341	ENSP00000250377:S262F;ENSP00000324697:S341F;ENSP00000440915:S357F	ENSP00000250377:S262F	S	+	2	0	KIAA0391	34666471	1.000000	0.71417	0.998000	0.56505	0.728000	0.41692	3.379000	0.52440	1.408000	0.46895	0.650000	0.86243	TCT	RP11-173D9.3	-	NULL	ENSG00000100890		0.363	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	KIAA0391	Clone_based_vega_gene	protein_coding	OTTHUMT00000411280.1	73	0.00	0	C	NM_014672		35596720	35596720	+1	no_errors	ENST00000534898	ensembl	human	known	69_37n	missense	59	10.45	7	SNP	1.000	T
KIAA1429	25962	genome.wustl.edu	37	8	95504881	95504881	+	Splice_Site	SNP	T	T	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:95504881T>G	ENST00000297591.5	-	21	4882	c.4807A>C	c.(4807-4809)Agt>Cgt	p.S1603R	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1603					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AAATTTTACCTTGACGTTATA	0.398																																						dbGAP											0													137.0	131.0	133.0					8																	95504881		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4808+1A>C	8.37:g.95504881T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S1603R	ENST00000297591.5	37	c.4807	CCDS34923.1	8	.	.	.	.	.	.	.	.	.	.	T	24.1	4.493478	0.84962	.	.	ENSG00000164944	ENST00000297591	T	0.46451	0.87	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.56499	0.1989	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.51252	-0.8729	10	0.27082	T	0.32	-12.0642	15.505	0.75731	0.0:0.0:0.0:1.0	.	1603	Q69YN4	VIR_HUMAN	R	1603	ENSP00000297591:S1603R	ENSP00000297591:S1603R	S	-	1	0	KIAA1429	95574057	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.652000	0.83633	2.060000	0.61445	0.477000	0.44152	AGT	KIAA1429	-	NULL	ENSG00000164944		0.398	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2	29	0.00	0	T	NM_015496	Missense_Mutation	95504881	95504881	-1	no_errors	ENST00000297591	ensembl	human	known	69_37n	missense	38	11.63	5	SNP	1.000	G
KIAA1549L	25758	genome.wustl.edu	37	11	33564296	33564296	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:33564296G>C	ENST00000321505.4	+	1	476	c.296G>C	c.(295-297)aGa>aCa	p.R99T	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.R99T|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R99T			Q6ZVL6	K154L_HUMAN	KIAA1549-like	99						integral component of membrane (GO:0016021)											GTGCCTGGAAGAGTGCACAAT	0.517																																						dbGAP											0													38.0	40.0	39.0					11																	33564296		1879	4114	5993	-	-	-	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.296G>C	11.37:g.33564296G>C	ENSP00000315295:p.Arg99Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYU0	Missense_Mutation	SNP	NULL	p.R99T	ENST00000321505.4	37	c.296	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	G	9.509	1.105125	0.20632	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654	.	.	.	5.19	2.3	0.28687	.	.	.	.	.	T	0.21307	0.0513	N	0.19112	0.55	0.09310	N	1	B;B	0.32829	0.164;0.386	B;B	0.36766	0.04;0.232	T	0.24368	-1.0162	8	0.07325	T	0.83	.	8.5274	0.33313	0.235:0.0:0.765:0.0	.	99;99	E9PAT2;Q6ZVL6-2	.;.	T	99	.	ENSP00000265654:R99T	R	+	2	0	C11orf41	33520872	0.012000	0.17670	0.005000	0.12908	0.024000	0.10985	0.994000	0.29693	0.203000	0.20529	0.561000	0.74099	AGA	KIAA1549L	-	NULL	ENSG00000110427		0.517	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	35	0.00	0	G	NM_012194		33564296	33564296	+1	no_errors	ENST00000389726	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	0.009	C
KIAA1804	84451	genome.wustl.edu	37	1	233507943	233507943	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:233507943G>A	ENST00000366623.3	+	6	1973	c.1712G>A	c.(1711-1713)tGa>tAa	p.*571*	MLK4_ENST00000366624.3_Intron																							CTCCTGTGTTGACTTCTCTCC	0.507																																						dbGAP											0													59.0	58.0	58.0					1																	233507943		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000366623.3:c.1712G>A	1.37:g.233507943G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain	p.*571	ENST00000366623.3	37	c.1712		1																																																																																			RP5-862P8.2	-	NULL	ENSG00000143674		0.507	MLK4-002	KNOWN	basic	protein_coding	KIAA1804	Clone_based_vega_gene	protein_coding	OTTHUMT00000092496.1	52	0.00	0	G			233507943	233507943	+1	no_errors	ENST00000366623	ensembl	human	known	69_37n	silent	56	38.46	35	SNP	0.000	A
KIF19	124602	genome.wustl.edu	37	17	72349061	72349061	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:72349061G>A	ENST00000389916.4	+	15	2220	c.2082G>A	c.(2080-2082)caG>caA	p.Q694Q	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	694					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGCACCTGCAGAACAGCGCCC	0.607																																						dbGAP											0													74.0	79.0	78.0					17																	72349061		2021	4183	6204	-	-	-	SO:0001819	synonymous_variant	0			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2082G>A	17.37:g.72349061G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q694	ENST00000389916.4	37	c.2082	CCDS32718.2	17																																																																																			KIF19	-	NULL	ENSG00000196169		0.607	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF19	HGNC	protein_coding	OTTHUMT00000319644.2	21	0.00	0	G	NM_153209		72349061	72349061	+1	no_errors	ENST00000389916	ensembl	human	known	69_37n	silent	12	25.00	4	SNP	0.001	A
KIF1B	23095	genome.wustl.edu	37	1	10363814	10363814	+	Intron	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:10363814C>G	ENST00000377086.1	+	22	2317				KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377093.4_Silent_p.V857V|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Silent_p.V857V|RN7SL731P_ENST00000584329.1_RNA			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGGAAAAAGTCTTGCCACTGA	0.393																																						dbGAP											0													43.0	47.0	46.0					1																	10363814		2203	4300	6503	-	-	-	SO:0001627	intron_variant	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.2115+6510C>G	1.37:g.10363814C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V857	ENST00000377086.1	37	c.2571		1																																																																																			KIF1B	-	NULL	ENSG00000054523		0.393	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	26	0.00	0	C			10363814	10363814	+1	no_errors	ENST00000377083	ensembl	human	known	69_37n	silent	24	17.24	5	SNP	0.978	G
KIF20B	9585	genome.wustl.edu	37	10	91492679	91492679	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr10:91492679C>G	ENST00000371728.3	+	19	2476	c.2411C>G	c.(2410-2412)tCt>tGt	p.S804C	KIF20B_ENST00000260753.4_Missense_Mutation_p.S764C|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.S804C|KIF20B_ENST00000416354.1_Missense_Mutation_p.S804C	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	804					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GATACATCTTCTTTAATAATA	0.254																																						dbGAP											0													42.0	47.0	46.0					10																	91492679		2198	4287	6485	-	-	-	SO:0001583	missense	0			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.2411C>G	10.37:g.91492679C>G	ENSP00000360793:p.Ser804Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S804C	ENST00000371728.3	37	c.2411		10	.	.	.	.	.	.	.	.	.	.	C	9.419	1.082443	0.20309	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.70045	-0.35;-0.35;-0.45;-0.39	3.7	1.61	0.23674	.	0.352868	0.20966	N	0.082480	T	0.57577	0.2063	L	0.51422	1.61	0.25755	N	0.985013	P;B	0.47350	0.894;0.009	B;B	0.44044	0.439;0.005	T	0.52571	-0.8558	10	0.59425	D	0.04	0.3484	5.4306	0.16450	0.217:0.5349:0.2481:0.0	.	804;764	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	C	764;804;804;804	ENSP00000260753:S764C;ENSP00000411545:S804C;ENSP00000377830:S804C;ENSP00000360793:S804C	ENSP00000260753:S764C	S	+	2	0	KIF20B	91482659	0.984000	0.35163	0.901000	0.35422	0.240000	0.25518	1.200000	0.32247	0.730000	0.32425	0.655000	0.94253	TCT	KIF20B	-	NULL	ENSG00000138182		0.254	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	43	0.00	0	C	NM_016195		91492679	91492679	+1	no_errors	ENST00000416354	ensembl	human	known	69_37n	missense	49	12.50	7	SNP	0.944	G
KIR3DL3	115653	genome.wustl.edu	37	19	55246797	55246797	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:55246797C>T	ENST00000291860.1	+	6	1045	c.1027C>T	c.(1027-1029)Ctt>Ttt	p.L343F	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	343						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CTTCTTTCTCCTTCATCGCTG	0.522																																						dbGAP											0													131.0	103.0	112.0					19																	55246797		1987	3927	5914	-	-	-	SO:0001583	missense	0			AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.1027C>T	19.37:g.55246797C>T	ENSP00000291860:p.Leu343Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2	p.L343F	ENST00000291860.1	37	c.1027	CCDS12903.1	19	.	.	.	.	.	.	.	.	.	.	c	5.105	0.204954	0.09704	.	.	ENSG00000242019	ENST00000291860	T	0.00526	6.8	0.929	-1.86	0.07760	.	16.305000	0.00397	U	0.000051	T	0.00784	0.0026	M	0.82193	2.58	0.09310	N	1	B	0.17268	0.021	B	0.24848	0.056	T	0.50659	-0.8802	10	0.87932	D	0	.	2.3704	0.04329	0.4225:0.3117:0.2658:0.0	.	343	Q8N743	KI3L3_HUMAN	F	343	ENSP00000291860:L343F	ENSP00000291860:L343F	L	+	1	0	KIR3DL3	59938609	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.712000	0.01885	-1.109000	0.02996	0.184000	0.17185	CTT	KIR3DL3	-	NULL	ENSG00000242019		0.522	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIR3DL3	HGNC	protein_coding	OTTHUMT00000141147.1	40	0.00	0	C	NM_153443		55246797	55246797	+1	no_errors	ENST00000291860	ensembl	human	known	69_37n	missense	69	13.75	11	SNP	0.000	T
KLHL30	377007	genome.wustl.edu	37	2	239059479	239059479	+	Missense_Mutation	SNP	G	G	A	rs540802795		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:239059479G>A	ENST00000409223.1	+	8	1617	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	KLHL30_ENST00000305959.4_Missense_Mutation_p.E486K			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	504										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CAGCCTGCATGAGAATGGCGC	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17079	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													18.0	23.0	21.0					2																	239059479		2185	4261	6446	-	-	-	SO:0001583	missense	0				CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1510G>A	2.37:g.239059479G>A	ENSP00000386389:p.Glu504Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZUS1	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E504K	ENST00000409223.1	37	c.1510	CCDS46555.2	2	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323183	0.60634	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.66460	-0.21;-0.21	4.79	4.79	0.61399	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.77465	0.4134	M	0.62723	1.935	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.71968	-0.4432	10	0.11485	T	0.65	.	16.7607	0.85511	0.0:0.0:1.0:0.0	.	504	Q0D2K2	KLH30_HUMAN	K	504;486	ENSP00000386389:E504K;ENSP00000302386:E486K	ENSP00000302386:E486K	E	+	1	0	KLHL30	238724218	1.000000	0.71417	0.998000	0.56505	0.189000	0.23516	9.106000	0.94253	2.492000	0.84095	0.655000	0.94253	GAG	KLHL30	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000168427		0.667	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL30	HGNC	protein_coding	OTTHUMT00000328518.1	90	0.00	0	G	NM_198582		239059479	239059479	+1	no_errors	ENST00000409223	ensembl	human	known	69_37n	missense	96	14.29	16	SNP	1.000	A
KLK11	11012	genome.wustl.edu	37	19	51526440	51526440	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:51526440C>G	ENST00000594768.1	-	5	789	c.604G>C	c.(604-606)Gag>Cag	p.E202Q	KLK11_ENST00000453757.3_Missense_Mutation_p.E170Q|KLK11_ENST00000594458.1_5'Flank|KLK11_ENST00000391804.3_Missense_Mutation_p.E195Q|KLK11_ENST00000319720.7_Missense_Mutation_p.E170Q|KLK11_ENST00000600362.1_Missense_Mutation_p.E29Q	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	202	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		TTCTGGTGCTCAATGATGGTG	0.597																																						dbGAP											0													170.0	109.0	130.0					19																	51526440		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6359	protein-coding gene	gene with protein product		604434	"""kallikrein 11"""	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.604G>C	19.37:g.51526440C>G	ENSP00000473047:p.Glu202Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O75837|Q0WXX5|Q8IXD7|Q9NS65	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E202Q	ENST00000594768.1	37	c.604	CCDS12818.1	19	.	.	.	.	.	.	.	.	.	.	c	8.734	0.917378	0.17982	.	.	ENSG00000167757	ENST00000391804;ENST00000319720;ENST00000453757;ENST00000319756	D;D;D	0.93189	-3.18;-3.18;-3.18	4.2	-0.526	0.11913	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.883882	0.09328	U	0.817261	D	0.87509	0.6195	L	0.31804	0.96	0.09310	N	1	P;P	0.41188	0.741;0.741	B;B	0.39299	0.222;0.296	T	0.78041	-0.2359	10	0.62326	D	0.03	.	7.5556	0.27822	0.0:0.589:0.0:0.411	.	202;195	Q9UBX7;Q8IXD7	KLK11_HUMAN;.	Q	195;170;170;202	ENSP00000375680:E195Q;ENSP00000324269:E170Q;ENSP00000413958:E170Q	ENSP00000324269:E170Q	E	-	1	0	KLK11	56218252	0.000000	0.05858	0.004000	0.12327	0.414000	0.31173	-0.588000	0.05774	-0.173000	0.10761	0.449000	0.29647	GAG	KLK11	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000167757		0.597	KLK11-002	KNOWN	basic|CCDS	protein_coding	KLK11	HGNC	protein_coding	OTTHUMT00000464314.2	48	0.00	0	C	NM_006853		51526440	51526440	-1	no_errors	ENST00000319756	ensembl	human	known	69_37n	missense	64	11.11	8	SNP	0.006	G
KLRD1	3824	genome.wustl.edu	37	12	10462017	10462017	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:10462017C>G	ENST00000381907.4	+	3	240	c.38C>G	c.(37-39)tCt>tGt	p.S13C	KLRD1_ENST00000543777.1_Missense_Mutation_p.S13C|KLRD1_ENST00000350274.5_Intron|KLRD1_ENST00000336164.4_Missense_Mutation_p.S13C|KLRD1_ENST00000543420.1_Missense_Mutation_p.S13C|KLRD1_ENST00000381908.3_Missense_Mutation_p.S13C|KLRD1_ENST00000538997.1_Intron	NM_001114396.1	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	13					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						AGGTTAATTTCTGGGACCTTA	0.363																																						dbGAP											0													129.0	115.0	120.0					12																	10462017		2203	4300	6503	-	-	-	SO:0001583	missense	0			U30610	CCDS8621.1, CCDS8622.1	12p13	2009-12-03						"""Killer cell lectin-like receptors"", ""CD molecules"""	6378	protein-coding gene	gene with protein product		602894		CD94		7589107	Standard	NM_002262		Approved		uc001qxx.4	Q13241		ENST00000381907.4:c.38C>G	12.37:g.10462017C>G	ENSP00000371332:p.Ser13Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43321|O43773|Q9UBE3|Q9UEQ0	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.S13C	ENST00000381907.4	37	c.38	CCDS8621.1	12	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317862	0.40996	.	.	ENSG00000134539	ENST00000381907;ENST00000381908;ENST00000336164;ENST00000543420;ENST00000543777	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;4.78	4.82	4.82	0.62117	.	0.468375	0.18372	N	0.143224	T	0.72179	0.3428	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.76326	-0.3000	10	0.72032	D	0.01	.	14.1213	0.65189	0.0:1.0:0.0:0.0	.	13;13;13	F6WZH4;Q13241-2;Q13241	.;.;KLRD1_HUMAN	C	13	ENSP00000371332:S13C;ENSP00000371333:S13C;ENSP00000338130:S13C;ENSP00000441074:S13C;ENSP00000443584:S13C	ENSP00000338130:S13C	S	+	2	0	KLRD1	10353284	0.761000	0.28439	0.399000	0.26333	0.164000	0.22412	3.348000	0.52209	2.602000	0.87976	0.591000	0.81541	TCT	KLRD1	-	NULL	ENSG00000134539		0.363	KLRD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLRD1	HGNC	protein_coding	OTTHUMT00000399684.2	53	0.00	0	C	NM_002262		10462017	10462017	+1	no_errors	ENST00000381908	ensembl	human	known	69_37n	missense	45	13.46	7	SNP	0.578	G
KRTAP10-5	386680	genome.wustl.edu	37	21	45999959	45999959	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr21:45999959G>A	ENST00000400372.1	-	1	522	c.497C>T	c.(496-498)tCc>tTc	p.S166F	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	166	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CTGGCAGGGGGAGGAGGTGCA	0.597																																						dbGAP											0													158.0	162.0	161.0					21																	45999959		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.497C>T	21.37:g.45999959G>A	ENSP00000383223:p.Ser166Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	NULL	p.S166F	ENST00000400372.1	37	c.497	CCDS42958.1	21	.	.	.	.	.	.	.	.	.	.	g	5.183	0.219348	0.09863	.	.	ENSG00000241123	ENST00000400372	T	0.01963	4.53	3.32	-1.36	0.09085	.	.	.	.	.	T	0.09335	0.0230	H	0.96691	3.865	0.09310	N	1	D	0.54397	0.966	P	0.49421	0.61	T	0.07539	-1.0767	9	0.66056	D	0.02	.	3.9979	0.09566	0.3376:0.3521:0.3103:0.0	.	166	P60370	KR105_HUMAN	F	166	ENSP00000383223:S166F	ENSP00000383223:S166F	S	-	2	0	KRTAP10-5	44824387	0.004000	0.15560	0.000000	0.03702	0.160000	0.22226	0.800000	0.27042	-0.071000	0.12886	0.455000	0.32223	TCC	KRTAP10-5	-	NULL	ENSG00000241123		0.597	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-5	HGNC	protein_coding	OTTHUMT00000128042.1	115	0.86	1	G			45999959	45999959	-1	no_errors	ENST00000400372	ensembl	human	known	69_37n	missense	119	20.13	30	SNP	0.000	A
LAMA4	3910	genome.wustl.edu	37	6	112450216	112450216	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:112450216G>C	ENST00000230538.7	-	31	4592	c.4195C>G	c.(4195-4197)Ctt>Gtt	p.L1399V	LAMA4_ENST00000389463.4_Missense_Mutation_p.L1392V|LAMA4_ENST00000424408.2_Missense_Mutation_p.L1392V|LAMA4_ENST00000522006.1_Missense_Mutation_p.L1392V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1399	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CACTCATAAAGAGAAGTGTGG	0.343																																						dbGAP											0													104.0	101.0	102.0					6																	112450216		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4195C>G	6.37:g.112450216G>C	ENSP00000230538:p.Leu1399Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EGF-like,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.L1399V	ENST00000230538.7	37	c.4195	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064658	0.76187	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.15139	2.48;2.45;2.45;2.45	5.59	5.59	0.84812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.058711	0.64402	D	0.000001	T	0.21427	0.0516	M	0.63428	1.95	0.80722	D	1	D;D	0.61697	0.982;0.99	P;P	0.55087	0.591;0.768	T	0.00436	-1.1740	10	0.44086	T	0.13	.	13.2963	0.60298	0.0818:0.0:0.9182:0.0	.	1399;1392	Q16363;Q16363-2	LAMA4_HUMAN;.	V	1399;1392;1392;1392	ENSP00000230538:L1399V;ENSP00000429488:L1392V;ENSP00000374114:L1392V;ENSP00000416470:L1392V	ENSP00000230538:L1399V	L	-	1	0	LAMA4	112556909	1.000000	0.71417	0.982000	0.44146	0.942000	0.58702	6.368000	0.73104	2.638000	0.89438	0.585000	0.79938	CTT	LAMA4	-	superfamily_ConA-like_lec_gl,pfscan_Laminin_G	ENSG00000112769		0.343	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	58	0.00	0	G	NM_001105206		112450216	112450216	-1	no_errors	ENST00000230538	ensembl	human	known	69_37n	missense	39	31.58	18	SNP	1.000	C
LAMA2	3908	genome.wustl.edu	37	6	129608999	129608999	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:129608999G>A	ENST00000421865.2	+	19	2594	c.2545G>A	c.(2545-2547)Gaa>Aaa	p.E849K		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	849	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TAGGTGTGCAGAAGGCTATTT	0.483																																						dbGAP											0													184.0	157.0	167.0					6																	129608999		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2545G>A	6.37:g.129608999G>A	ENSP00000400365:p.Glu849Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.E849K	ENST00000421865.2	37	c.2545	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619765	0.87460	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.61859	0.07	5.93	5.93	0.95920	EGF-like, laminin (4);	0.128880	0.52532	D	0.000068	T	0.53206	0.1782	L	0.45228	1.405	0.48040	D	0.999577	D;P	0.59357	0.985;0.936	P;P	0.54924	0.764;0.551	T	0.54227	-0.8325	10	0.48119	T	0.1	.	13.5336	0.61635	0.0709:0.0:0.9291:0.0	.	849;849	A6NF00;P24043	.;LAMA2_HUMAN	K	849	ENSP00000400365:E849K	ENSP00000346769:E849K	E	+	1	0	LAMA2	129650692	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.122000	0.71608	2.798000	0.96311	0.655000	0.94253	GAA	LAMA2	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EGF-like,pfscan_EGF_laminin	ENSG00000196569		0.483	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	42	0.00	0	G			129608999	129608999	+1	no_errors	ENST00000421865	ensembl	human	known	69_37n	missense	41	10.87	5	SNP	1.000	A
LAMA5	3911	genome.wustl.edu	37	20	60892512	60892512	+	Missense_Mutation	SNP	G	G	A	rs553907113		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:60892512G>A	ENST00000252999.3	-	55	7466	c.7400C>T	c.(7399-7401)cCa>cTa	p.P2467L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2467	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTGCAGCAGTGGGGTCCGAGC	0.672													.|||	1	0.000199681	0.0	0.0014	5008	,	,		17266	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													23.0	26.0	25.0					20																	60892512		2174	4273	6447	-	-	-	SO:0001583	missense	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7400C>T	20.37:g.60892512G>A	ENSP00000252999:p.Pro2467Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.P2467L	ENST00000252999.3	37	c.7400	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	g	11.05	1.524422	0.27299	.	.	ENSG00000130702	ENST00000252999	T	0.18810	2.19	3.54	3.54	0.40534	.	0.190036	0.46442	U	0.000300	T	0.34978	0.0916	M	0.61703	1.905	0.80722	D	1	D	0.62365	0.991	P	0.55011	0.766	T	0.15037	-1.0451	10	0.37606	T	0.19	.	14.7386	0.69437	0.0:0.0:1.0:0.0	.	2467	O15230	LAMA5_HUMAN	L	2467	ENSP00000252999:P2467L	ENSP00000252999:P2467L	P	-	2	0	LAMA5	60325907	1.000000	0.71417	0.023000	0.16930	0.049000	0.14656	5.772000	0.68889	1.522000	0.49001	0.436000	0.28706	CCA	LAMA5	-	NULL	ENSG00000130702		0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	62	0.00	0	G	NM_005560		60892512	60892512	-1	no_errors	ENST00000252999	ensembl	human	known	69_37n	missense	65	26.97	24	SNP	0.812	A
LANCL3	347404	genome.wustl.edu	37	X	37515015	37515015	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:37515015G>A	ENST00000378619.3	+	2	867	c.648G>A	c.(646-648)aaG>aaA	p.K216K	TM4SF2_ENST00000465127.1_Intron|LANCL3_ENST00000378621.3_Silent_p.K216K	NM_001170331.1	NP_001163802.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	216							catalytic activity (GO:0003824)			lung(4)|pancreas(1)	5						CCATAAAGAAGAGGAAACCAT	0.438																																						dbGAP											0													122.0	98.0	106.0					X																	37515015		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AK124915	CCDS14240.1, CCDS55398.1	Xp21.1	2008-02-05			ENSG00000147036	ENSG00000147036			24767	protein-coding gene	gene with protein product							Standard	NM_198511		Approved	FLJ42925	uc011mkd.2	Q6ZV70	OTTHUMG00000033177	ENST00000378619.3:c.648G>A	X.37:g.37515015G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHE3	Silent	SNP	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LANC-like,prints_LanC-like_prot_euk	p.K216	ENST00000378619.3	37	c.648	CCDS55398.1	X																																																																																			LANCL3	-	pfam_LANC-like	ENSG00000147036		0.438	LANCL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LANCL3	HGNC	protein_coding	OTTHUMT00000080885.1	41	0.00	0	G	NM_198511		37515015	37515015	+1	no_errors	ENST00000378619	ensembl	human	known	69_37n	silent	40	20.00	10	SNP	1.000	A
LARP7	51574	genome.wustl.edu	37	4	113568856	113568856	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:113568856C>T	ENST00000344442.5	+	8	1286	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	MIR302C_ENST00000362232.1_RNA|MIR302A_ENST00000385192.1_RNA|MIR302B_ENST00000505215.1_RNA|MIR367_ENST00000362299.1_RNA|MIR302B_ENST00000510655.1_RNA|MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000509061.1_Silent_p.I343I|LARP7_ENST00000324052.6_Silent_p.I336I|MIR302B_ENST00000362188.1_RNA|MIR302D_ENST00000362275.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	336	Lys-rich.				RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		ATATAGAAATCTCTACTGAAG	0.313																																						dbGAP											0													20.0	20.0	20.0					4																	113568856		2098	4246	6344	-	-	-	SO:0001819	synonymous_variant	0			AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.1008C>T	4.37:g.113568856C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Missense_Mutation	SNP	pfam_RRM_3	p.S130F	ENST00000344442.5	37	c.389	CCDS3701.2	4	.	.	.	.	.	.	.	.	.	.	C	9.970	1.225283	0.22457	.	.	ENSG00000174720	ENST00000511529	.	.	.	5.89	1.51	0.23008	.	.	.	.	.	T	0.52322	0.1727	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42783	-0.9431	4	.	.	.	0.5641	5.7853	0.18331	0.0:0.4821:0.1363:0.3816	.	.	.	.	F	130	.	.	S	+	2	0	LARP7	113788305	0.420000	0.25457	0.942000	0.38095	0.946000	0.59487	-0.313000	0.08103	0.635000	0.30488	0.655000	0.94253	TCT	LARP7	-	NULL	ENSG00000174720		0.313	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP7	HGNC	protein_coding	OTTHUMT00000256417.2	74	0.00	0	C	NM_016648		113568856	113568856	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000511529	ensembl	human	novel	69_37n	missense	21	25.00	7	SNP	0.937	T
LCTL	197021	genome.wustl.edu	37	15	66844149	66844149	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr15:66844149C>G	ENST00000341509.5	-	11	1506	c.1375G>C	c.(1375-1377)Gat>Cat	p.D459H	LCTL_ENST00000537670.1_Missense_Mutation_p.D286H	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	459					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCAAACTTATCCAACAGAGAC	0.328																																						dbGAP											0													142.0	147.0	146.0					15																	66844149		2201	4299	6500	-	-	-	SO:0001583	missense	0			AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.1375G>C	15.37:g.66844149C>G	ENSP00000343490:p.Asp459His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQY0	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.D459H	ENST00000341509.5	37	c.1375	CCDS10220.1	15	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832809	0.91036	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.76060	-0.99;-0.43	5.86	5.86	0.93980	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.085132	0.85682	D	0.000000	D	0.92545	0.7632	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95021	0.8160	10	0.87932	D	0	-31.535	19.1901	0.93663	0.0:1.0:0.0:0.0	.	459	Q6UWM7	LCTL_HUMAN	H	286;459	ENSP00000445419:D286H;ENSP00000343490:D459H	ENSP00000343490:D459H	D	-	1	0	LCTL	64631203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.213000	0.77950	2.776000	0.95493	0.655000	0.94253	GAT	LCTL	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	ENSG00000188501		0.328	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCTL	HGNC	protein_coding	OTTHUMT00000256921.2	34	0.00	0	C	NM_207338		66844149	66844149	-1	no_errors	ENST00000341509	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	1.000	G
LDB3	11155	genome.wustl.edu	37	10	88476470	88476470	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr10:88476470G>T	ENST00000361373.4	+	9	1639	c.1618G>T	c.(1618-1620)Gag>Tag	p.E540*	LDB3_ENST00000458213.2_Nonsense_Mutation_p.E430*|LDB3_ENST00000429277.2_Nonsense_Mutation_p.E545*|LDB3_ENST00000263066.6_Nonsense_Mutation_p.E430*|LDB3_ENST00000352360.5_Nonsense_Mutation_p.E283*	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CCAGAGGGCTGAGCGATTCCC	0.667																																						dbGAP											0													32.0	31.0	32.0					10																	88476470		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1618G>T	10.37:g.88476470G>T	ENSP00000355296:p.Glu540*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.E545*	ENST00000361373.4	37	c.1633	CCDS7377.1	10	.	.	.	.	.	.	.	.	.	.	G	38	7.070614	0.98044	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	.	.	.	4.85	4.85	0.62838	.	0.000000	0.32802	N	0.005630	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	18.3507	0.90337	0.0:0.0:1.0:0.0	.	.	.	.	X	461;545;430;283;430;540	.	ENSP00000263066:E430X	E	+	1	0	LDB3	88466450	1.000000	0.71417	0.991000	0.47740	0.973000	0.67179	7.686000	0.84128	2.407000	0.81776	0.555000	0.69702	GAG	LDB3	-	NULL	ENSG00000122367		0.667	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LDB3	HGNC	protein_coding	OTTHUMT00000049160.2	28	0.00	0	G			88476470	88476470	+1	no_errors	ENST00000429277	ensembl	human	known	69_37n	nonsense	32	20.00	8	SNP	1.000	T
LDHAL6CP	121498	genome.wustl.edu	37	12	63397565	63397565	+	lincRNA	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:63397565G>A	ENST00000552996.1	-	0	1070				LDHAL6CP_ENST00000550738.1_RNA																							ACAGGAACTGGATCAGTGGGC	0.488																																						dbGAP											0																																										-	-	-			0																															12.37:g.63397565G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000552996.1	37	NULL		12																																																																																			LDHAL6CP	-	-	ENSG00000250517		0.488	RP11-848D3.5-001	KNOWN	basic	lincRNA	LDHAL6CP	HGNC	lincRNA	OTTHUMT00000406731.1	33	0.00	0	G			63397565	63397565	+1	no_errors	ENST00000550738	ensembl	human	known	69_37n	rna	54	11.48	7	SNP	1.000	A
LETM1	3954	genome.wustl.edu	37	4	1838207	1838207	+	Silent	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:1838207C>A	ENST00000302787.2	-	4	983	c.687G>T	c.(685-687)gtG>gtT	p.V229V		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	229	LETM1.				cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GGAAGAGCTTCACAGCAACAG	0.512																																						dbGAP											0													172.0	142.0	152.0					4																	1838207		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.687G>T	4.37:g.1838207C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DED2|Q9UF65	Silent	SNP	pfam_LETM1,pfscan_EF_HAND_2	p.V229	ENST00000302787.2	37	c.687	CCDS3355.1	4																																																																																			LETM1	-	pfam_LETM1	ENSG00000168924		0.512	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LETM1	HGNC	protein_coding	OTTHUMT00000241634.1	85	0.00	0	C			1838207	1838207	-1	no_errors	ENST00000302787	ensembl	human	known	69_37n	silent	104	11.86	14	SNP	1.000	A
LETM1	3954	genome.wustl.edu	37	4	1838230	1838230	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:1838230C>G	ENST00000302787.2	-	4	960	c.664G>C	c.(664-666)Gag>Cag	p.E222Q		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	222	LETM1.				cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			AGCAGAAACTCCATGAACGGC	0.557																																						dbGAP											0													172.0	140.0	151.0					4																	1838230		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.664G>C	4.37:g.1838230C>G	ENSP00000305653:p.Glu222Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DED2|Q9UF65	Missense_Mutation	SNP	pfam_LETM1,pfscan_EF_HAND_2	p.E222Q	ENST00000302787.2	37	c.664	CCDS3355.1	4	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917471	0.92249	.	.	ENSG00000168924	ENST00000302787;ENST00000417150	T	0.52295	0.67	4.14	4.14	0.48551	LETM1-like (1);	0.000000	0.85682	D	0.000000	T	0.75729	0.3889	M	0.92412	3.305	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.83658	0.0159	10	0.87932	D	0	-35.2254	16.5961	0.84796	0.0:1.0:0.0:0.0	.	222;182;222	O95202-3;O95202-2;O95202	.;.;LETM1_HUMAN	Q	222;182	ENSP00000305653:E222Q	ENSP00000305653:E222Q	E	-	1	0	LETM1	1808028	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.815000	0.69215	2.147000	0.66899	0.655000	0.94253	GAG	LETM1	-	pfam_LETM1	ENSG00000168924		0.557	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LETM1	HGNC	protein_coding	OTTHUMT00000241634.1	94	0.00	0	C			1838230	1838230	-1	no_errors	ENST00000302787	ensembl	human	known	69_37n	missense	108	13.60	17	SNP	1.000	G
LETM1	3954	genome.wustl.edu	37	4	1838291	1838291	+	Silent	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:1838291C>G	ENST00000302787.2	-	4	899	c.603G>C	c.(601-603)cgG>cgC	p.R201R		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	201	LETM1.				cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CAGCGCAGATCCGGAGAAACT	0.552																																						dbGAP											0													108.0	92.0	97.0					4																	1838291		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.603G>C	4.37:g.1838291C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DED2|Q9UF65	Silent	SNP	pfam_LETM1,pfscan_EF_HAND_2	p.R201	ENST00000302787.2	37	c.603	CCDS3355.1	4																																																																																			LETM1	-	pfam_LETM1	ENSG00000168924		0.552	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LETM1	HGNC	protein_coding	OTTHUMT00000241634.1	87	0.00	0	C			1838291	1838291	-1	no_errors	ENST00000302787	ensembl	human	known	69_37n	silent	104	11.86	14	SNP	0.992	G
LGI2	55203	genome.wustl.edu	37	4	25005573	25005573	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:25005573C>T	ENST00000382114.4	-	8	1323	c.1138G>A	c.(1138-1140)Gat>Aat	p.D380N		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	380						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CCATCGATATCAACAAACTCC	0.483																																						dbGAP											0													122.0	127.0	125.0					4																	25005573		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1138G>A	4.37:g.25005573C>T	ENSP00000371548:p.Asp380Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.D380N	ENST00000382114.4	37	c.1138	CCDS3431.1	4	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066139	0.36470	.	.	ENSG00000153012	ENST00000382114	T	0.80123	-1.34	5.85	5.85	0.93711	.	0.152649	0.64402	D	0.000017	T	0.74718	0.3753	N	0.21448	0.665	0.53688	D	0.999972	B	0.18013	0.025	B	0.26770	0.073	T	0.68765	-0.5322	10	0.54805	T	0.06	-21.3255	20.1736	0.98170	0.0:1.0:0.0:0.0	.	380	Q8N0V4	LGI2_HUMAN	N	380	ENSP00000371548:D380N	ENSP00000371548:D380N	D	-	1	0	LGI2	24614671	0.998000	0.40836	0.121000	0.21740	0.171000	0.22731	3.768000	0.55295	2.767000	0.95098	0.557000	0.71058	GAT	LGI2	-	pfam_EPTP,pfscan_EAR	ENSG00000153012		0.483	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI2	HGNC	protein_coding	OTTHUMT00000214978.1	64	0.00	0	C			25005573	25005573	-1	no_errors	ENST00000382114	ensembl	human	known	69_37n	missense	70	16.67	14	SNP	0.987	T
LIG1	3978	genome.wustl.edu	37	19	48640981	48640981	+	Intron	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:48640981G>A	ENST00000263274.7	-	13	1507				LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Intron	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent						anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGTCGAGGGTGACAGTTGTGG	0.652								Nucleotide excision repair (NER)																														dbGAP											0													13.0	13.0	13.0					19																	48640981		2195	4296	6491	-	-	-	SO:0001627	intron_variant	0				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1088-36C>T	19.37:g.48640981G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N	p.H343Y	ENST00000263274.7	37	c.1027	CCDS12711.1	19	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533620	0.45073	.	.	ENSG00000105486	ENST00000542460	T	0.08546	3.08	3.79	-1.35	0.09114	.	.	.	.	.	T	0.04907	0.0132	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.43750	-0.9372	5	.	.	.	.	2.8647	0.05597	0.103:0.3342:0.3915:0.1713	.	.	.	.	Y	343	ENSP00000445928:H343Y	.	H	-	1	0	LIG1	53332793	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.630000	0.24553	-0.209000	0.10156	0.655000	0.94253	CAC	LIG1	-	NULL	ENSG00000105486		0.652	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG1	HGNC	protein_coding	OTTHUMT00000465575.1	129	0.00	0	G	NM_000234		48640981	48640981	-1	no_errors	ENST00000542460	ensembl	human	known	69_37n	missense	138	16.77	28	SNP	0.000	A
LIN28B	389421	genome.wustl.edu	37	6	105406098	105406098	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:105406098C>A	ENST00000345080.4	+	2	338	c.135C>A	c.(133-135)ttC>ttA	p.F45L		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	45	CSD.				miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				GATTTGGATTCATCTCCATGA	0.502																																						dbGAP											0													97.0	101.0	100.0					6																	105406098		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.135C>A	6.37:g.105406098C>A	ENSP00000344401:p.Phe45Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,prints_CSP_DNA-bd,pfscan_Znf_CCHC	p.F45L	ENST00000345080.4	37	c.135	CCDS34504.1	6	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721153	0.68959	.	.	ENSG00000187772	ENST00000345080	.	.	.	5.78	4.88	0.63580	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.81555	0.4847	M	0.93016	3.37	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.985;0.995	D	0.86171	0.1600	9	0.72032	D	0.01	-9.1752	12.7785	0.57464	0.0:0.917:0.0:0.083	.	22;45	A7E2T3;Q6ZN17	.;LN28B_HUMAN	L	45	.	ENSP00000344401:F45L	F	+	3	2	LIN28B	105512791	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.955000	0.40372	1.343000	0.45638	0.650000	0.86243	TTC	LIN28B	-	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd	ENSG00000187772		0.502	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN28B	HGNC	protein_coding	OTTHUMT00000041646.2	88	0.00	0	C	NM_001004317		105406098	105406098	+1	no_errors	ENST00000345080	ensembl	human	known	69_37n	missense	68	16.05	13	SNP	1.000	A
LOC63930	63930	genome.wustl.edu	37	20	61665871	61665871	+	lincRNA	SNP	A	A	G	rs1060490	byFrequency	TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:61665871A>G	ENST00000607802.1	+	0	91				LINC00029_ENST00000370341.3_lincRNA	NR_033370.1																						CTCAATACTCATTCAGACGCA	0.582													G|||	3451	0.689097	0.5741	0.6859	5008	,	,		17486	0.7748		0.665	False		,,,				2504	0.7832					dbGAP											0																																										-	-	-			0																															20.37:g.61665871A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000607802.1	37	NULL		20																																																																																			LINC00029	-	-	ENSG00000125514		0.582	RP11-305P22.9-001	KNOWN	basic	lincRNA	LINC00029	HGNC	lincRNA	OTTHUMT00000470475.1	21	0.00	0	A			61665871	61665871	-1	no_errors	ENST00000370341	ensembl	human	known	69_37n	rna	27	15.62	5	SNP	0.000	G
LINC00315	246704	genome.wustl.edu	37	21	46722897	46722897	+	lincRNA	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr21:46722897G>C	ENST00000441947.1	-	0	1303							P59091	CU093_HUMAN	long intergenic non-protein coding RNA 315																		GCTGATGTGAGAGATCCCCGC	0.652																																						dbGAP											0																																										-	-	-			0			AF427488		21q22.3	2012-10-12	2011-08-10	2011-08-10	ENSG00000184274	ENSG00000184274		"""Long non-coding RNAs"""	16621	non-coding RNA	RNA, long non-coding			"""chromosome 21 open reading frame 93"", ""non-protein coding RNA 315"""	C21orf93, NCRNA00315		12036297	Standard			Approved			P59091	OTTHUMG00000090409		21.37:g.46722897G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000441947.1	37	NULL		21																																																																																			LINC00315	-	-	ENSG00000184274		0.652	LINC00315-001	KNOWN	basic	lincRNA	LINC00315	HGNC	lincRNA	OTTHUMT00000206835.1	16	0.00	0	G			46722897	46722897	-1	no_errors	ENST00000441947	ensembl	human	known	69_37n	rna	20	16.67	4	SNP	0.000	C
LMNB2	84823	genome.wustl.edu	37	19	2434442	2434442	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:2434442C>G	ENST00000582871.1	-	7	1079	c.993G>C	c.(991-993)aaG>aaC	p.K331N	LMNB2_ENST00000325327.3_Missense_Mutation_p.K351N|LMNB2_ENST00000475819.1_5'Flank	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	331	Coil 2.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTCCAGCATCTTCCGGAACT	0.667																																						dbGAP											0													99.0	72.0	81.0					19																	2434442		2202	4300	6502	-	-	-	SO:0001583	missense	0			M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.993G>C	19.37:g.2434442C>G	ENSP00000462730:p.Lys331Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O75292|Q14734|Q96DF6	Missense_Mutation	SNP	pfam_F,pfam_Lamin_tail_dom,superfamily_Prefoldin	p.K351N	ENST00000582871.1	37	c.1053		19	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947243	0.34377	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.25	1.97	0.26223	Filament (1);	0.123761	0.53938	N	0.000056	T	0.27866	0.0686	L	0.27944	0.81	0.20307	N	0.999915	B	0.10296	0.003	B	0.16722	0.016	T	0.17899	-1.0354	9	0.40728	T	0.16	.	9.3415	0.38082	0.1625:0.6805:0.157:0.0	.	331	Q03252	LMNB2_HUMAN	N	331	.	ENSP00000327054:K331N	K	-	3	2	LMNB2	2385442	0.915000	0.31059	0.071000	0.20095	0.991000	0.79684	1.080000	0.30779	0.215000	0.20761	0.561000	0.74099	AAG	LMNB2	-	pfam_F	ENSG00000176619		0.667	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	LMNB2	HGNC	protein_coding		44	0.00	0	C	NM_032737		2434442	2434442	-1	no_errors	ENST00000325327	ensembl	human	known	69_37n	missense	42	20.75	11	SNP	0.085	G
LPHN2	23266	genome.wustl.edu	37	1	82456098	82456098	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:82456098G>A	ENST00000370728.1	+	25	4294	c.3649G>A	c.(3649-3651)Gat>Aat	p.D1217N	LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000359929.3_Missense_Mutation_p.D1161N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D1189N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D1174N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D1219N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D1142N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D1232N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D1232N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D1189N|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370723.1_Missense_Mutation_p.D1219N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D1161N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D1174N			O95490	LPHN2_HUMAN	latrophilin 2	1217					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CAATGCCAGGGATACAAGTGC	0.423																																						dbGAP											0													142.0	135.0	137.0					1																	82456098		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3649G>A	1.37:g.82456098G>A	ENSP00000359763:p.Asp1217Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.D1232N	ENST00000370728.1	37	c.3694		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.233156|4.233156	0.79688|0.79688	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000402328	T;T;T;T;T;T;T;T;T;T;T;T|.	0.79454|.	-1.21;-1.27;-1.1;-1.03;-1.19;-1.12;-1.0;-1.0;-1.19;-1.12;-1.03;-1.1|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.057001|.	0.64402|.	D|.	0.000002|.	T|T	0.71728|0.71728	0.3374|0.3374	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.995;0.997|.	D;D|.	0.80764|.	0.944;0.994|.	T|T	0.71388|0.71388	-0.4608|-0.4608	10|5	0.44086|.	T|.	0.13|.	.|.	19.0135|19.0135	0.92884|0.92884	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1161;141|.	O95490-2;B3KVU1|.	.;.|.	N|E	1142;1217;1174;1189;1232;1219;1161;1161;1232;1219;1189;1174|228	ENSP00000359756:D1142N;ENSP00000359763:D1217N;ENSP00000359765:D1174N;ENSP00000359762:D1189N;ENSP00000359760:D1232N;ENSP00000359758:D1219N;ENSP00000353006:D1161N;ENSP00000322270:D1161N;ENSP00000359752:D1232N;ENSP00000378344:D1219N;ENSP00000271029:D1189N;ENSP00000337306:D1174N|.	ENSP00000271029:D1189N|.	D|G	+|+	1|2	0|0	LPHN2|LPHN2	82228686|82228686	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.476000|9.476000	0.97823|0.97823	2.477000|2.477000	0.83638|0.83638	0.563000|0.563000	0.77884|0.77884	GAT|GGA	LPHN2	-	pfam_GPCR_2_latrophilin_rcpt_C	ENSG00000117114		0.423	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	30	0.00	0	G	NM_012302		82456098	82456098	+1	no_errors	ENST00000370717	ensembl	human	known	69_37n	missense	23	20.69	6	SNP	1.000	A
LPL	4023	genome.wustl.edu	37	8	19797005	19797005	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:19797005G>A	ENST00000311322.8	+	1	524	c.54G>A	c.(52-54)ctG>ctA	p.L18L	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	18					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	TCCAGAGTCTGACCGCCTCCC	0.692																																						dbGAP											0													12.0	14.0	13.0					8																	19797005		2170	4241	6411	-	-	-	SO:0001819	synonymous_variant	0				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.54G>A	8.37:g.19797005G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5T9|Q16282|Q16283|Q96FC4	Silent	SNP	pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_Lipo_Lipase,prints_Lipase,tigrfam_Lipo_Lipase	p.L18	ENST00000311322.8	37	c.54	CCDS6012.1	8																																																																																			LPL	-	pirsf_Lipoprotein_lipase_LIPH	ENSG00000175445		0.692	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPL	HGNC	protein_coding	OTTHUMT00000089113.3	17	0.00	0	G			19797005	19797005	+1	no_errors	ENST00000311322	ensembl	human	known	69_37n	silent	20	20.00	5	SNP	0.967	A
LRFN2	57497	genome.wustl.edu	37	6	40400499	40400499	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:40400499G>A	ENST00000338305.6	-	2	896	c.354C>T	c.(352-354)gaC>gaT	p.D118D		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	118						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCGGAGGGTGTCCTCCCCAA	0.587																																						dbGAP											0													51.0	43.0	46.0					6																	40400499		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.354C>T	6.37:g.40400499G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKU3|Q5SYP9	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D118	ENST00000338305.6	37	c.354	CCDS34443.1	6																																																																																			LRFN2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000156564		0.587	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN2	HGNC	protein_coding	OTTHUMT00000040488.1	26	0.00	0	G	XM_166372		40400499	40400499	-1	no_errors	ENST00000338305	ensembl	human	known	69_37n	silent	30	14.29	5	SNP	1.000	A
LRP2	4036	genome.wustl.edu	37	2	170147508	170147508	+	Splice_Site	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:170147508C>T	ENST00000263816.3	-	8	1055		c.e8-1		LRP2_ENST00000443831.1_Splice_Site	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2						cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GGACCGCTTTCTGTGGGGGGA	0.453																																						dbGAP											0													80.0	81.0	81.0					2																	170147508		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.770-1G>A	2.37:g.170147508C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O00711|Q16215	Splice_Site	SNP	-	e8-1	ENST00000263816.3	37	c.770-1	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613020	0.46631	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1096	0.93312	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP2	169855754	1.000000	0.71417	0.999000	0.59377	0.419000	0.31324	3.916000	0.56416	2.690000	0.91761	0.655000	0.94253	.	LRP2	-	-	ENSG00000081479		0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	26	0.00	0	C	NM_004525	Intron	170147508	170147508	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	splice_site	23	14.81	4	SNP	1.000	T
LRRC31	79782	genome.wustl.edu	37	3	169569529	169569529	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:169569529G>A	ENST00000316428.5	-	7	1094	c.1037C>T	c.(1036-1038)tCa>tTa	p.S346L	LRRC31_ENST00000264676.5_Missense_Mutation_p.S290L|LRRC31_ENST00000397805.2_5'Flank|LRRC31_ENST00000523069.1_Missense_Mutation_p.S346L	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	346										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TTTGTTGGCTGATAAATCCAA	0.393																																						dbGAP											0													126.0	119.0	121.0					3																	169569529		1838	4088	5926	-	-	-	SO:0001583	missense	0			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.1037C>T	3.37:g.169569529G>A	ENSP00000325978:p.Ser346Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.S346L	ENST00000316428.5	37	c.1037	CCDS43167.1	3	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906088	0.72868	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.60920	0.15;0.15;0.15	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.78362	0.4271	M	0.83012	2.62	0.46798	D	0.999206	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.81577	-0.0869	10	0.54805	T	0.06	-13.8487	17.7743	0.88502	0.0:0.0:1.0:0.0	.	290;346	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	L	346;290;346	ENSP00000325978:S346L;ENSP00000264676:S290L;ENSP00000429145:S346L	ENSP00000264676:S290L	S	-	2	0	LRRC31	171052223	1.000000	0.71417	0.991000	0.47740	0.653000	0.38743	6.281000	0.72632	2.198000	0.70561	0.313000	0.20887	TCA	LRRC31	-	NULL	ENSG00000114248		0.393	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC31	HGNC	protein_coding	OTTHUMT00000378699.1	31	0.00	0	G	NM_024727		169569529	169569529	-1	no_errors	ENST00000316428	ensembl	human	known	69_37n	missense	39	17.02	8	SNP	0.998	A
LRRC37A3	374819	genome.wustl.edu	37	17	62856114	62856114	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:62856114C>G	ENST00000584306.1	-	11	4680	c.4150G>C	c.(4150-4152)Gaa>Caa	p.E1384Q	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.E1384Q|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.E502Q|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.E361Q|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.E422Q	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1384						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTATTGTTTTCTATAAAATGT	0.363																																						dbGAP											0													42.0	49.0	47.0					17																	62856114		2158	4121	6279	-	-	-	SO:0001583	missense	0			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4150G>C	17.37:g.62856114C>G	ENSP00000464535:p.Glu1384Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E1384Q	ENST00000584306.1	37	c.4150	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	8.307	0.821236	0.16678	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.63417	1.32;1.32;-0.04	2.39	-3.0	0.05480	.	.	.	.	.	T	0.48021	0.1477	M	0.62723	1.935	0.09310	N	1	P;B	0.39665	0.682;0.221	B;B	0.32864	0.154;0.055	T	0.43032	-0.9416	9	0.66056	D	0.02	.	3.2831	0.06922	0.0:0.3442:0.2158:0.44	.	502;1384	B4DG20;O60309	.;L37A3_HUMAN	Q	465;422;361;1384	ENSP00000383674:E422Q;ENSP00000335617:E361Q;ENSP00000325713:E1384Q	ENSP00000325713:E1384Q	E	-	1	0	LRRC37A3	60286576	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.064000	0.11636	-0.495000	0.06659	0.184000	0.17185	GAA	LRRC37A3	-	NULL	ENSG00000176809		0.363	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	81	0.00	0	C	NM_199340		62856114	62856114	-1	no_errors	ENST00000319651	ensembl	human	known	69_37n	missense	88	15.24	16	SNP	0.001	G
LRRC47	57470	genome.wustl.edu	37	1	3703586	3703586	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:3703586C>T	ENST00000378251.1	-	2	931	c.904G>A	c.(904-906)Gga>Aga	p.G302R	RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	302							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CCGGCAtctcccacgtcctgc	0.657																																						dbGAP											0													89.0	58.0	69.0					1																	3703586		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.904G>A	1.37:g.3703586C>T	ENSP00000367498:p.Gly302Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULN5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_B3/B4_tRNA-bd,smart_Leu-rich_rpt_typical-subtyp,smart_B3/B4_tRNA-bd	p.G302R	ENST00000378251.1	37	c.904	CCDS51.1	1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290672	0.23564	.	.	ENSG00000130764	ENST00000378251	T	0.38401	1.14	4.56	4.56	0.56223	.	0.777914	0.11771	N	0.531114	T	0.23451	0.0567	N	0.14661	0.345	0.31128	N	0.708097	B	0.28128	0.201	B	0.21360	0.034	T	0.07654	-1.0761	10	0.16896	T	0.51	-4.1838	16.3828	0.83481	0.0:1.0:0.0:0.0	.	302	Q8N1G4	LRC47_HUMAN	R	302	ENSP00000367498:G302R	ENSP00000367498:G302R	G	-	1	0	LRRC47	3693446	0.998000	0.40836	0.004000	0.12327	0.004000	0.04260	5.418000	0.66429	2.109000	0.64355	0.650000	0.86243	GGA	LRRC47	-	NULL	ENSG00000130764		0.657	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC47	HGNC	protein_coding	OTTHUMT00000009744.1	51	0.00	0	C	NM_020710		3703586	3703586	-1	no_errors	ENST00000378251	ensembl	human	known	69_37n	missense	59	10.61	7	SNP	0.937	T
LRRC63	220416	genome.wustl.edu	37	13	46808427	46808427	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr13:46808427G>A	ENST00000595396.1	+	4	933	c.933G>A	c.(931-933)atG>atA	p.M311I	snoU13_ENST00000459016.1_RNA|LRRC63_ENST00000446175.1_Missense_Mutation_p.M311I			Q05C16	LRC63_HUMAN	leucine rich repeat containing 63	311										lung(1)|ovary(1)	2						TAACAGCCATGACCAACCTGG	0.388																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS61325.1	13q14.12	2014-02-12			ENSG00000173988	ENSG00000173988			34296	protein-coding gene	gene with protein product							Standard	NM_001282460		Approved	RP11-139H14.4	uc001vbc.3	Q05C16	OTTHUMG00000016866	ENST00000595396.1:c.933G>A	13.37:g.46808427G>A	ENSP00000469337:p.Met311Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TBN0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.M311I	ENST00000595396.1	37	c.933		13	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413087	0.62511	.	.	ENSG00000173988	ENST00000378805;ENST00000446175	T;T	0.01265	5.08;5.13	5.14	-0.31	0.12765	.	0.377447	0.23090	N	0.052057	T	0.01353	0.0044	L	0.56769	1.78	0.09310	N	1	B	0.26744	0.158	B	0.23419	0.046	T	0.47548	-0.9109	10	0.16420	T	0.52	-13.1321	2.936	0.05815	0.2988:0.0:0.376:0.3252	.	311	Q05C16	LRC63_HUMAN	I	311	ENSP00000368082:M311I;ENSP00000408828:M311I	ENSP00000368082:M311I	M	+	3	0	LRRC63	45706428	0.476000	0.25901	0.026000	0.17262	0.918000	0.54935	0.877000	0.28106	0.186000	0.20125	0.467000	0.42956	ATG	LRRC63	-	NULL	ENSG00000173988		0.388	LRRC63-002	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	LRRC63	HGNC	protein_coding	OTTHUMT00000463266.1	54	0.00	0	G	XM_001718341		46808427	46808427	+1	no_errors	ENST00000446175	ensembl	human	known	69_37n	missense	42	20.75	11	SNP	0.011	A
LRRC73	221424	genome.wustl.edu	37	6	43475242	43475242	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:43475242C>T	ENST00000372441.1	-	5	1732	c.832G>A	c.(832-834)Gag>Aag	p.E278K		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	278																	GCAGCAGGCTCCCGCCCTCTC	0.627																																						dbGAP											0													31.0	37.0	35.0					6																	43475242		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 154"""	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.832G>A	6.37:g.43475242C>T	ENSP00000361518:p.Glu278Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E278K	ENST00000372441.1	37	c.832	CCDS34456.1	6	.	.	.	.	.	.	.	.	.	.	C	13.79	2.340902	0.41498	.	.	ENSG00000204052	ENST00000372441	T	0.35973	1.28	5.55	5.55	0.83447	.	0.404061	0.26692	N	0.022986	T	0.11239	0.0274	L	0.27053	0.805	0.40476	D	0.98039	B	0.12013	0.005	B	0.08055	0.003	T	0.07195	-1.0785	10	0.09843	T	0.71	-15.1219	12.7924	0.57541	0.0:0.9253:0.0:0.0746	.	278	Q5JTD7	CF154_HUMAN	K	278	ENSP00000361518:E278K	ENSP00000361518:E278K	E	-	1	0	C6orf154	43583220	0.948000	0.32251	0.995000	0.50966	0.896000	0.52359	1.227000	0.32576	2.620000	0.88729	0.655000	0.94253	GAG	LRRC73	-	NULL	ENSG00000204052		0.627	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC73	HGNC	protein_coding	OTTHUMT00000040635.1	27	0.00	0	C	NM_001012974		43475242	43475242	-1	no_errors	ENST00000372441	ensembl	human	novel	69_37n	missense	24	25.00	8	SNP	0.893	T
LRRIQ4	344657	genome.wustl.edu	37	3	169539937	169539937	+	Silent	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:169539937C>G	ENST00000340806.6	+	1	228	c.228C>G	c.(226-228)ctC>ctG	p.L76L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	76										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCAGGGTCCTCTACCTGGATA	0.502																																						dbGAP											0													80.0	84.0	82.0					3																	169539937		1900	4118	6018	-	-	-	SO:0001819	synonymous_variant	0				CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.228C>G	3.37:g.169539937C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.L76	ENST00000340806.6	37	c.228	CCDS46951.1	3																																																																																			LRRIQ4	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000188306		0.502	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRIQ4	HGNC	protein_coding	OTTHUMT00000378698.1	24	0.00	0	C	NM_001080460		169539937	169539937	+1	no_errors	ENST00000340806	ensembl	human	known	69_37n	silent	28	17.65	6	SNP	0.992	G
LRRIQ4	344657	genome.wustl.edu	37	3	169540268	169540268	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:169540268C>T	ENST00000340806.6	+	1	559	c.559C>T	c.(559-561)Ctc>Ttc	p.L187F		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	187										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GCTCTGTGTTCTCTACACCCT	0.498																																						dbGAP											0													73.0	75.0	74.0					3																	169540268		1860	4109	5969	-	-	-	SO:0001583	missense	0				CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.559C>T	3.37:g.169540268C>T	ENSP00000342188:p.Leu187Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.L187F	ENST00000340806.6	37	c.559	CCDS46951.1	3	.	.	.	.	.	.	.	.	.	.	C	13.94	2.388058	0.42308	.	.	ENSG00000188306	ENST00000340806	T	0.35973	1.28	5.8	5.8	0.92144	.	0.089199	0.48286	D	0.000186	T	0.62612	0.2442	M	0.83118	2.625	0.22127	N	0.99935	D	0.76494	0.999	D	0.68765	0.96	T	0.60021	-0.7344	10	0.59425	D	0.04	.	15.554	0.76177	0.1385:0.8614:0.0:0.0	.	187	A6NIV6	LRIQ4_HUMAN	F	187	ENSP00000342188:L187F	ENSP00000342188:L187F	L	+	1	0	LRRIQ4	171022962	0.035000	0.19736	0.096000	0.21009	0.245000	0.25701	1.080000	0.30779	2.747000	0.94245	0.462000	0.41574	CTC	LRRIQ4	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000188306		0.498	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRIQ4	HGNC	protein_coding	OTTHUMT00000378698.1	27	0.00	0	C	NM_001080460		169540268	169540268	+1	no_errors	ENST00000340806	ensembl	human	known	69_37n	missense	56	16.42	11	SNP	0.177	T
LRRIQ4	344657	genome.wustl.edu	37	3	169540270	169540270	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:169540270C>T	ENST00000340806.6	+	1	561	c.561C>T	c.(559-561)ctC>ctT	p.L187L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	187										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCTGTGTTCTCTACACCCTGG	0.488																																						dbGAP											0													74.0	76.0	75.0					3																	169540270		1859	4109	5968	-	-	-	SO:0001819	synonymous_variant	0				CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.561C>T	3.37:g.169540270C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.L187	ENST00000340806.6	37	c.561	CCDS46951.1	3																																																																																			LRRIQ4	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000188306		0.488	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRIQ4	HGNC	protein_coding	OTTHUMT00000378698.1	27	0.00	0	C	NM_001080460		169540270	169540270	+1	no_errors	ENST00000340806	ensembl	human	known	69_37n	silent	55	15.38	10	SNP	0.001	T
LRRIQ4	344657	genome.wustl.edu	37	3	169540357	169540357	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:169540357C>G	ENST00000340806.6	+	1	648	c.648C>G	c.(646-648)ttC>ttG	p.F216L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	216										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGCAGAAGTTCTATATGGCTT	0.527																																						dbGAP											0													84.0	88.0	87.0					3																	169540357		1924	4128	6052	-	-	-	SO:0001583	missense	0				CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.648C>G	3.37:g.169540357C>G	ENSP00000342188:p.Phe216Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.F216L	ENST00000340806.6	37	c.648	CCDS46951.1	3	.	.	.	.	.	.	.	.	.	.	C	1.555	-0.538089	0.04082	.	.	ENSG00000188306	ENST00000340806	T	0.02737	4.18	5.8	4.02	0.46733	.	0.416288	0.25514	N	0.030157	T	0.00754	0.0025	N	0.00280	-1.71	0.41193	D	0.986313	B	0.09022	0.002	B	0.12156	0.007	T	0.40346	-0.9568	10	0.02654	T	1	.	7.9391	0.29948	0.1311:0.728:0.0:0.1409	.	216	A6NIV6	LRIQ4_HUMAN	L	216	ENSP00000342188:F216L	ENSP00000342188:F216L	F	+	3	2	LRRIQ4	171023051	0.999000	0.42202	0.557000	0.28306	0.025000	0.11179	1.263000	0.33004	0.804000	0.34136	0.462000	0.41574	TTC	LRRIQ4	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000188306		0.527	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRIQ4	HGNC	protein_coding	OTTHUMT00000378698.1	49	0.00	0	C	NM_001080460		169540357	169540357	+1	no_errors	ENST00000340806	ensembl	human	known	69_37n	missense	50	16.67	10	SNP	0.994	G
LRRK1	79705	genome.wustl.edu	37	15	101555579	101555579	+	Silent	SNP	A	A	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr15:101555579A>G	ENST00000388948.3	+	12	1940	c.1581A>G	c.(1579-1581)agA>agG	p.R527R	LRRK1_ENST00000284395.5_Silent_p.R524R	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCACCACCAGAGGTCGCCAGC	0.532											OREG0011796|OREG0023522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model																										dbGAP											0													55.0	58.0	57.0					15																	101555579		2075	4215	6290	-	-	-	SO:0001819	synonymous_variant	0			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1581A>G	15.37:g.101555579A>G		Somatic	1359	WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.R527	ENST00000388948.3	37	c.1581	CCDS42086.1	15																																																																																			LRRK1	-	NULL	ENSG00000154237		0.532	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	41	0.00	0	A	NM_024652		101555579	101555579	+1	no_errors	ENST00000388948	ensembl	human	known	69_37n	silent	31	20.51	8	SNP	1.000	G
LSM1	27257	genome.wustl.edu	37	8	38029500	38029500	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:38029500C>T	ENST00000311351.4	-	2	493	c.98G>A	c.(97-99)aGa>aAa	p.R33K	LSM1_ENST00000522515.1_5'UTR|LSM1_ENST00000520755.1_Missense_Mutation_p.R33K	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN	LSM1, U6 small nuclear RNA associated	33					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					ATCAATGCTTCTTAAAAAGCC	0.333											OREG0018720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													96.0	101.0	99.0					8																	38029500		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF000177	CCDS6103.1	8p11.2	2014-02-14	2014-02-14		ENSG00000175324	ENSG00000175324			20472	protein-coding gene	gene with protein product		607281	"""LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)"""			12515382, 11953827	Standard	NM_014462		Approved	CASM, YJL124C	uc003xkw.3	O15116	OTTHUMG00000164051	ENST00000311351.4:c.98G>A	8.37:g.38029500C>T	ENSP00000310596:p.Arg33Lys	Somatic	875	WXS	Illumina GAIIx	Phase_IV	B2R5E6	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.R33K	ENST00000311351.4	37	c.98	CCDS6103.1	8	.	.	.	.	.	.	.	.	.	.	C	34	5.342314	0.95783	.	.	ENSG00000175324	ENST00000311351;ENST00000520755	T;T	0.39056	1.1;1.1	5.93	5.93	0.95920	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.088985	0.85682	D	0.000000	T	0.52917	0.1764	L	0.48174	1.505	0.80722	D	1	P	0.44044	0.825	P	0.52823	0.71	T	0.32666	-0.9898	10	0.34782	T	0.22	-29.3368	19.1049	0.93290	0.0:1.0:0.0:0.0	.	33	O15116	LSM1_HUMAN	K	33	ENSP00000310596:R33K;ENSP00000430021:R33K	ENSP00000310596:R33K	R	-	2	0	LSM1	38148657	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.270000	0.78493	2.818000	0.97014	0.591000	0.81541	AGA	LSM1	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	ENSG00000175324		0.333	LSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM1	HGNC	protein_coding	OTTHUMT00000376965.1	15	0.00	0	C	NM_014462		38029500	38029500	-1	no_errors	ENST00000311351	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	1.000	T
LTA4H	4048	genome.wustl.edu	37	12	96412987	96412987	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:96412987C>G	ENST00000228740.2	-	7	811	c.670G>C	c.(670-672)Gag>Cag	p.E224Q	LTA4H_ENST00000552789.1_Missense_Mutation_p.E200Q|LTA4H_ENST00000413268.2_Missense_Mutation_p.E200Q	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	224					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	TGCTCTTTCTCAGACCACACC	0.348																																						dbGAP											0													110.0	108.0	109.0					12																	96412987		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.670G>C	12.37:g.96412987C>G	ENSP00000228740:p.Glu224Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N,tigrfam_Leukotriene_A4_hydrolase	p.E224Q	ENST00000228740.2	37	c.670	CCDS9059.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.147198	0.94603	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	T;T;T	0.02837	4.14;4.14;4.14	5.81	5.81	0.92471	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.23572	0.0570	M	0.91872	3.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.02326	-1.1176	10	0.87932	D	0	-23.6735	20.0621	0.97678	0.0:1.0:0.0:0.0	.	200;200;224	P09960-3;F8VV40;P09960	.;.;LKHA4_HUMAN	Q	224;200;200	ENSP00000228740:E224Q;ENSP00000449958:E200Q;ENSP00000395051:E200Q	ENSP00000228740:E224Q	E	-	1	0	LTA4H	94937118	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.729000	0.84864	2.750000	0.94351	0.655000	0.94253	GAG	LTA4H	-	pfam_Peptidase_M1_N,tigrfam_Leukotriene_A4_hydrolase	ENSG00000111144		0.348	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTA4H	HGNC	protein_coding	OTTHUMT00000408655.1	40	0.00	0	C	NM_000895		96412987	96412987	-1	no_errors	ENST00000228740	ensembl	human	known	69_37n	missense	33	15.38	6	SNP	1.000	G
LUC7L	55692	genome.wustl.edu	37	16	278904	278904	+	Intron	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:278904G>C	ENST00000293872.8	-	1	172				LUC7L_ENST00000397783.1_Intron|LUC7L_ENST00000397780.1_5'Flank|LUC7L_ENST00000494366.1_5'UTR|LUC7L_ENST00000337351.4_Intron	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)						mRNA splice site selection (GO:0006376)|negative regulation of striated muscle tissue development (GO:0045843)	U1 snRNP (GO:0005685)	identical protein binding (GO:0042802)|mRNA binding (GO:0003729)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				AGCCTCGGAAGAGTTCTGCCA	0.667																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AY005111	CCDS10401.1, CCDS32348.1	16p13.3	2010-01-25	2001-11-28		ENSG00000007392	ENSG00000007392			6723	protein-coding gene	gene with protein product		607782	"""LUC7 (S. cerevisiae)-like"""				Standard	NM_201412		Approved	LUC7B1, hLuc7B1, Luc7	uc002cgc.1	Q9NQ29	OTTHUMG00000060730	ENST00000293872.8:c.61+373C>G	16.37:g.278904G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZ13|Q96S32|Q9NPH4	RNA	SNP	-	NULL	ENST00000293872.8	37	NULL	CCDS32348.1	16																																																																																			LUC7L	-	-	ENSG00000007392		0.667	LUC7L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L	HGNC	protein_coding	OTTHUMT00000134239.1	22	0.00	0	G			278904	278904	-1	no_errors	ENST00000494366	ensembl	human	putative	69_37n	rna	23	14.81	4	SNP	0.001	C
LUC7L3	51747	genome.wustl.edu	37	17	48828520	48828520	+	3'UTR	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:48828520C>T	ENST00000505658.1	+	0	1986				LUC7L3_ENST00000393227.2_3'UTR|LUC7L3_ENST00000503798.1_3'UTR|LUC7L3_ENST00000240304.1_Intron			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)						mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						ATTTCTTTGTCAAGGATGTTT	0.358																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.*498C>T	17.37:g.48828520C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	RNA	SNP	-	NULL	ENST00000505658.1	37	NULL	CCDS11573.1	17																																																																																			LUC7L3	-	-	ENSG00000108848		0.358	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L3	HGNC	protein_coding	OTTHUMT00000368205.2	75	0.00	0	C	NM_016424		48828520	48828520	+1	no_errors	ENST00000503798	ensembl	human	putative	69_37n	rna	82	18.00	18	SNP	1.000	T
MACF1	23499	genome.wustl.edu	37	1	39823290	39823290	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:39823290G>C	ENST00000372915.3	+	44	11770	c.11683G>C	c.(11683-11685)Gaa>Caa	p.E3895Q	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.E3927Q|MACF1_ENST00000564288.1_Missense_Mutation_p.E3890Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E1828Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E1828Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E2330Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E1828Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E1828Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3895					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAAAGAGTTTGAAAGCTGGTT	0.507																																						dbGAP											0													63.0	66.0	65.0					1																	39823290		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.11683G>C	1.37:g.39823290G>C	ENSP00000362006:p.Glu3895Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E1828Q	ENST00000372915.3	37	c.5482		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.36|18.36	3.607765|3.607765	0.66558|0.66558	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893|ENST00000372925	T;T;T;T;T;T;T|.	0.55234|.	0.53;0.53;0.53;0.53;0.53;1.21;0.53|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.64402|.	D|.	0.000010|.	T|.	0.78214|.	0.4248|.	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.48640|.	0.637;0.756;0.913;0.904|.	P;P;P;P|.	0.53722|.	0.653;0.591;0.521;0.733|.	T|.	0.75213|.	-0.3397|.	10|.	0.23891|.	T|.	0.37|.	.|.	20.6439|20.6439	0.99570|0.99570	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3895;1828;1828;1793|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	Q|S	1828;3895;1828;1828;1828;1977;2330|961	ENSP00000439537:E1828Q;ENSP00000362006:E3895Q;ENSP00000354573:E1828Q;ENSP00000313438:E1828Q;ENSP00000444364:E1828Q;ENSP00000437059:E1977Q;ENSP00000289893:E2330Q|.	ENSP00000289893:E2330Q|.	E|X	+|+	1|2	0|2	MACF1|MACF1	39595877|39595877	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	5.364000|5.364000	0.66110|0.66110	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GAA|TGA	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000127603		0.507	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	28	0.00	0	G	NM_033044		39823290	39823290	+1	no_errors	ENST00000317713	ensembl	human	known	69_37n	missense	35	16.67	7	SNP	1.000	C
LYST	1130	genome.wustl.edu	37	1	235909789	235909789	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:235909789G>A	ENST00000389794.3	-	29	7993	c.7819C>T	c.(7819-7821)Ctg>Ttg	p.L2607L	LYST_ENST00000389793.2_Silent_p.L2607L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2607					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATTTTCATCAGAAGCGATTCA	0.393																																						dbGAP											0													88.0	73.0	78.0					1																	235909789		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.7819C>T	1.37:g.235909789G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	NULL	p.S174F	ENST00000389794.3	37	c.521	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	1.541	-0.541692	0.04053	.	.	ENSG00000143669	ENST00000487530	.	.	.	5.5	3.64	0.41730	.	.	.	.	.	T	0.59335	0.2186	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54255	-0.8321	4	.	.	.	.	9.4023	0.38440	0.2173:0.0:0.7827:0.0	.	.	.	.	F	174	.	.	S	-	2	0	LYST	233976412	1.000000	0.71417	0.919000	0.36401	0.433000	0.31745	3.133000	0.50531	0.697000	0.31718	-0.229000	0.12294	TCT	LYST	-	NULL	ENSG00000143669		0.393	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	57	0.00	0	G			235909789	235909789	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000487530	ensembl	human	novel	69_37n	missense	43	41.10	30	SNP	1.000	A
MAGEB3	4114	genome.wustl.edu	37	X	30254805	30254805	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:30254805T>C	ENST00000361644.2	+	5	1501	c.764T>C	c.(763-765)cTt>cCt	p.L255P		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	255	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						TTGGTGAAGCTTAAATACCTG	0.453																																						dbGAP											0													67.0	58.0	61.0					X																	30254805		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.764T>C	X.37:g.30254805T>C	ENSP00000355198:p.Leu255Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.L255P	ENST00000361644.2	37	c.764	CCDS14220.1	X	.	.	.	.	.	.	.	.	.	.	T	9.854	1.194582	0.22037	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.05025	3.51;3.51	4.3	3.1	0.35709	.	0.078676	0.51477	U	0.000085	T	0.22627	0.0546	M	0.85859	2.78	0.09310	N	0.999993	D	0.89917	1.0	D	0.85130	0.997	T	0.04294	-1.0962	10	0.54805	T	0.06	.	6.0385	0.19720	0.2317:0.0:0.0:0.7683	.	255	O15480	MAGB3_HUMAN	P	255	ENSP00000368271:L255P;ENSP00000355198:L255P	ENSP00000355198:L255P	L	+	2	0	MAGEB3	30164726	0.000000	0.05858	0.035000	0.18076	0.314000	0.28054	-0.105000	0.10907	0.727000	0.32360	0.486000	0.48141	CTT	MAGEB3	-	pfam_MAGE,pfscan_MAGE	ENSG00000198798		0.453	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB3	HGNC	protein_coding	OTTHUMT00000056158.2	48	0.00	0	T	NM_002365		30254805	30254805	+1	no_errors	ENST00000361644	ensembl	human	known	69_37n	missense	42	12.50	6	SNP	0.030	C
MAGI1	9223	genome.wustl.edu	37	3	65344789	65344789	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:65344789C>T	ENST00000330909.8	-	24	3756	c.3757G>A	c.(3757-3759)Gaa>Aaa	p.E1253K	MAGI1_ENST00000402939.2_Intron|RP11-88H12.2_ENST00000602316.1_RNA	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	0					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CCGAGCTTTTCATTTCTCATA	0.463																																						dbGAP											0													175.0	177.0	176.0					3																	65344789		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000330909.8:c.3757G>A	3.37:g.65344789C>T	ENSP00000331157:p.Glu1253Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.E1253K	ENST00000330909.8	37	c.3757	CCDS33781.1	3	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852594	0.51270	.	.	ENSG00000151276	ENST00000330909;ENST00000422949	T	0.16457	2.34	5.2	5.2	0.72013	.	.	.	.	.	T	0.14442	0.0349	L	0.27053	0.805	0.80722	D	1	B	0.26902	0.163	B	0.23419	0.046	T	0.09058	-1.0692	9	0.22109	T	0.4	.	19.0887	0.93217	0.0:1.0:0.0:0.0	.	1253	Q96QZ7-5	.	K	1253;1149	ENSP00000331157:E1253K	ENSP00000331157:E1253K	E	-	1	0	MAGI1	65319829	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.409000	0.80053	2.572000	0.86782	0.563000	0.77884	GAA	MAGI1	-	NULL	ENSG00000151276		0.463	MAGI1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349127.2	34	0.00	0	C	NM_004742		65344789	65344789	-1	no_errors	ENST00000330909	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	1.000	T
MAGOHB	55110	genome.wustl.edu	37	12	10758913	10758913	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:10758913G>A	ENST00000320756.2	-	5	498	c.408C>T	c.(406-408)ttC>ttT	p.F136F	MAGOHB_ENST00000539554.1_Silent_p.F90F|MAGOHB_ENST00000381881.2_Silent_p.F99F	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)	136					mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|large_intestine(2)	4						CAATAAGACTGAAAACTAAAC	0.308																																						dbGAP											0													32.0	31.0	31.0					12																	10758913		2198	4279	6477	-	-	-	SO:0001819	synonymous_variant	0				CCDS8628.1	12p13.2	2014-02-12	2008-01-24		ENSG00000111196	ENSG00000111196			25504	protein-coding gene	gene with protein product							Standard	NM_018048		Approved	FLJ10292, MGN2	uc001qyq.2	Q96A72	OTTHUMG00000168407	ENST00000320756.2:c.408C>T	12.37:g.10758913G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Mago_nashi,superfamily_Mago_nashi	p.F136	ENST00000320756.2	37	c.408	CCDS8628.1	12																																																																																			MAGOHB	-	pfam_Mago_nashi,superfamily_Mago_nashi	ENSG00000111196		0.308	MAGOHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGOHB	HGNC	protein_coding	OTTHUMT00000399616.1	51	0.00	0	G	NM_018048		10758913	10758913	-1	no_errors	ENST00000320756	ensembl	human	known	69_37n	silent	36	18.18	8	SNP	1.000	A
MAP1B	4131	genome.wustl.edu	37	5	71492254	71492254	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:71492254C>T	ENST00000296755.7	+	5	3370	c.3072C>T	c.(3070-3072)gaC>gaT	p.D1024D		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1024					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATGAGGAGGACAAAGCTGAAG	0.527																																					Melanoma(17;367 822 11631 31730 47712)	dbGAP											0													142.0	143.0	143.0					5																	71492254		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3072C>T	5.37:g.71492254C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDK5	Silent	SNP	pfam_MAP1B_neuraxin	p.D1024	ENST00000296755.7	37	c.3072	CCDS4012.1	5																																																																																			MAP1B	-	NULL	ENSG00000131711		0.527	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	34	0.00	0	C	NM_005909		71492254	71492254	+1	no_errors	ENST00000296755	ensembl	human	known	69_37n	silent	32	17.95	7	SNP	0.956	T
MAP2K4	6416	genome.wustl.edu	37	17	11958295	11958295	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:11958295C>T	ENST00000353533.5	+	2	268	c.205C>T	c.(205-207)Caa>Taa	p.Q69*	MAP2K4_ENST00000415385.3_Nonsense_Mutation_p.Q80*	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	69					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TACAGGAGTTCAAAACCCACA	0.348			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)	ovary(4)|breast(4)|biliary_tract(1)|endometrium(1)|pancreas(1)											67.0	62.0	64.0					17																	11958295		2202	4299	6501	-	-	-	SO:0001587	stop_gained	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.205C>T	17.37:g.11958295C>T	ENSP00000262445:p.Gln69*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q80*	ENST00000353533.5	37	c.238	CCDS11162.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.921079	0.97105	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465	.	.	.	5.57	5.57	0.84162	.	0.051848	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	18.6919	0.91586	0.0:1.0:0.0:0.0	.	.	.	.	X	69;80;46	.	ENSP00000262445:Q69X	Q	+	1	0	MAP2K4	11899020	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.700000	0.74619	2.785000	0.95823	0.655000	0.94253	CAA	MAP2K4	-	NULL	ENSG00000065559		0.348	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	22	0.00	0	C			11958295	11958295	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	nonsense	9	40.00	6	SNP	1.000	T
MAP4	4134	genome.wustl.edu	37	3	47953733	47953733	+	Intron	SNP	C	C	A	rs34025851	byFrequency	TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:47953733C>A	ENST00000360240.6	-	8	2518				MAP4_ENST00000264724.11_5'Flank|MAP4_ENST00000426837.2_Missense_Mutation_p.W743C|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000383737.4_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4						cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	AACCAGAGACCCAACCTGACT	0.572													C|||	1409	0.28135	0.1785	0.3545	5008	,	,		16554	0.2847		0.2992	False		,,,				2504	0.3466					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1999+2573G>T	3.37:g.47953733C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	pfam_Tau/MAP_tubulin-bd_rpt	p.W743C	ENST00000360240.6	37	c.2229	CCDS33750.1	3	552	0.25274725274725274	76	0.15447154471544716	111	0.30662983425414364	144	0.2517482517482518	221	0.29155672823219	C	13.70	2.314522	0.40996	.	.	ENSG00000047849	ENST00000426837	T	0.12255	2.7	5.29	5.29	0.74685	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999785	.	.	.	.	.	.	T	0.50600	-0.8809	4	.	.	.	.	11.3727	0.49708	0.1804:0.8196:0.0:0.0	rs34025851	.	.	.	C	743	ENSP00000407602:W743C	.	W	-	3	0	MAP4	47928737	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.899000	0.28417	2.756000	0.94617	0.561000	0.74099	TGG	MAP4	-	NULL	ENSG00000047849		0.572	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1	36	0.00	0	C	NM_002375		47953733	47953733	-1	no_errors	ENST00000426837	ensembl	human	putative	69_37n	missense	31	11.43	4	SNP	1.000	A
MAP4K4	9448	genome.wustl.edu	37	2	102450874	102450874	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:102450874G>A	ENST00000347699.4	+	8	643	c.643G>A	c.(643-645)Gat>Aat	p.D215N	MAP4K4_ENST00000413150.2_Missense_Mutation_p.D215N|MAP4K4_ENST00000350878.4_Missense_Mutation_p.D195N|MAP4K4_ENST00000425019.1_Missense_Mutation_p.D215N|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000350198.4_Missense_Mutation_p.D215N|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000324219.4_Missense_Mutation_p.D215N	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTTGCAGAGTGATCTTTGGTC	0.378																																						dbGAP											0													169.0	154.0	159.0					2																	102450874		1887	4122	6009	-	-	-	SO:0001583	missense	0			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.643G>A	2.37:g.102450874G>A	ENSP00000314363:p.Asp215Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O75172|Q9NST7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.D215N	ENST00000347699.4	37	c.643	CCDS56130.1	2	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889382	0.91889	.	.	ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000413150;ENST00000347699;ENST00000417294;ENST00000350878	T;T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;0.73	6.03	6.03	0.97812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93255	0.7851	H	0.99368	4.535	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;0.996;0.997;0.998;0.994;0.994	D	0.95454	0.8537	10	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	195;215;215;195;215;215;215;215;215;215	B7Z388;B7Z3V5;E7ENQ1;E7ESS2;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.;.;.;.;.;M4K4_HUMAN;.;.;.;.	N	215;215;215;215;215;177;195	ENSP00000392830:D215N;ENSP00000313644:D215N;ENSP00000281111:D215N;ENSP00000389752:D215N;ENSP00000314363:D215N;ENSP00000409720:D177N;ENSP00000343658:D195N	ENSP00000313644:D215N	D	+	1	0	MAP4K4	101817306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.854000	0.98071	0.655000	0.94253	GAT	MAP4K4	-	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	ENSG00000071054		0.378	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	MAP4K4	HGNC	protein_coding	OTTHUMT00000339839.1	39	0.00	0	G	NM_004834		102450874	102450874	+1	no_errors	ENST00000324219	ensembl	human	known	69_37n	missense	54	10.00	6	SNP	1.000	A
MAPK6	5597	genome.wustl.edu	37	15	52338064	52338064	+	5'UTR	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr15:52338064G>C	ENST00000261845.5	+	0	214				MAPK6_ENST00000558841.1_3'UTR	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6						cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		CTTTGATTGTGATTGTGGTGA	0.418																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.-594G>C	15.37:g.52338064G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R945|B5BU65|Q68DH4|Q8IYN8	RNA	SNP	-	NULL	ENST00000261845.5	37	NULL	CCDS10147.1	15																																																																																			MAPK6	-	-	ENSG00000069956		0.418	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK6	HGNC	protein_coding	OTTHUMT00000254841.2	50	0.00	0	G	NM_002748		52338064	52338064	+1	no_errors	ENST00000558063	ensembl	human	putative	69_37n	rna	39	11.36	5	SNP	1.000	C
MAPK8IP3	23162	genome.wustl.edu	37	16	1818302	1818302	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:1818302C>T	ENST00000250894.4	+	30	3819	c.3662C>T	c.(3661-3663)cCc>cTc	p.P1221L	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.P1215L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1221					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGCTTCATCCCCTACTGCTCC	0.642																																						dbGAP											0													70.0	79.0	76.0					16																	1818302		2164	4278	6442	-	-	-	SO:0001583	missense	0			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3662C>T	16.37:g.1818302C>T	ENSP00000250894:p.Pro1221Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.P1221L	ENST00000250894.4	37	c.3662	CCDS10442.2	16	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624053	0.66901	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.61274	0.12;0.14	4.46	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.72922	0.3521	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.989;0.999;0.999	T	0.76506	-0.2934	10	0.87932	D	0	-25.3465	11.4529	0.50164	0.0:0.9104:0.0:0.0896	.	1222;1215;1221	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	L	1221;1215	ENSP00000250894:P1221L;ENSP00000348290:P1215L	ENSP00000250894:P1221L	P	+	2	0	MAPK8IP3	1758303	1.000000	0.71417	0.994000	0.49952	0.847000	0.48162	5.602000	0.67612	2.037000	0.60232	0.462000	0.41574	CCC	MAPK8IP3	-	NULL	ENSG00000138834		0.642	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	36	0.00	0	C	NM_001040439		1818302	1818302	+1	no_errors	ENST00000250894	ensembl	human	known	69_37n	missense	27	32.50	13	SNP	0.997	T
MARK4	57787	genome.wustl.edu	37	19	45762346	45762346	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:45762346G>A	ENST00000262891.4	+	2	482	c.151G>A	c.(151-153)Gag>Aag	p.E51K	MARK4_ENST00000300843.4_Missense_Mutation_p.E51K	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	51					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTCCTGTCCCGAGGAGCAGCC	0.652																																						dbGAP											0													41.0	35.0	37.0					19																	45762346		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.151G>A	19.37:g.45762346G>A	ENSP00000262891:p.Glu51Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E51K	ENST00000262891.4	37	c.151	CCDS56097.1	19	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929099	0.73327	.	.	ENSG00000007047	ENST00000262893;ENST00000262891;ENST00000300843	T;T	0.71461	-0.53;-0.57	4.75	3.72	0.42706	Protein kinase-like domain (1);	0.073535	0.52532	D	0.000070	T	0.52805	0.1757	L	0.27053	0.805	0.43107	D	0.9948	B;P	0.36660	0.063;0.564	B;B	0.28232	0.016;0.087	T	0.58470	-0.7631	10	0.66056	D	0.02	.	10.728	0.46079	0.0928:0.0:0.9072:0.0	.	51;51	Q96L34;Q96L34-2	MARK4_HUMAN;.	K	51	ENSP00000262891:E51K;ENSP00000300843:E51K	ENSP00000262891:E51K	E	+	1	0	MARK4	50454186	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	9.304000	0.96190	1.232000	0.43678	0.555000	0.69702	GAG	MARK4	-	superfamily_Kinase-like_dom	ENSG00000007047		0.652	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK4	HGNC	protein_coding	OTTHUMT00000457537.1	52	0.00	0	G	NM_031417		45762346	45762346	+1	no_errors	ENST00000262891	ensembl	human	known	69_37n	missense	44	16.98	9	SNP	0.999	A
MAS1L	116511	genome.wustl.edu	37	6	29454735	29454735	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:29454735G>C	ENST00000377127.3	-	1	1003	c.945C>G	c.(943-945)ttC>ttG	p.F315L		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	315					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F315L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TCCCCACAAAGAAATAAATGA	0.443																																					NSCLC(153;755 1987 3859 11251 32945)	dbGAP											1	Substitution - Missense(1)	NS(1)											66.0	73.0	71.0					6																	29454735		2203	4300	6503	-	-	-	SO:0001583	missense	0			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.945C>G	6.37:g.29454735G>C	ENSP00000366331:p.Phe315Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SUN5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.F315L	ENST00000377127.3	37	c.945	CCDS4661.1	6	.	.	.	.	.	.	.	.	.	.	G	11.34	1.611097	0.28712	.	.	ENSG00000204687	ENST00000377127	T	0.35421	1.31	2.36	2.36	0.29203	.	.	.	.	.	T	0.16854	0.0405	L	0.48877	1.53	0.24510	N	0.994218	B	0.18610	0.029	B	0.25759	0.063	T	0.31420	-0.9944	9	0.56958	D	0.05	.	10.5668	0.45177	0.0:0.0:1.0:0.0	.	315	P35410	MAS1L_HUMAN	L	315	ENSP00000366331:F315L	ENSP00000366331:F315L	F	-	3	2	MAS1L	29562714	0.091000	0.21658	0.060000	0.19600	0.041000	0.13682	-0.078000	0.11375	1.367000	0.46095	0.596000	0.82720	TTC	MAS1L	-	prints_7TM_GPCR_Rhodpsn	ENSG00000204687		0.443	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1L	HGNC	protein_coding	OTTHUMT00000076126.2	42	0.00	0	G	NM_052967		29454735	29454735	-1	no_errors	ENST00000377127	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	0.983	C
MASTL	84930	genome.wustl.edu	37	10	27459563	27459563	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr10:27459563G>T	ENST00000375940.4	+	8	1732	c.1675G>T	c.(1675-1677)Gat>Tat	p.D559Y	MASTL_ENST00000342386.6_Missense_Mutation_p.D559Y|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375946.4_Missense_Mutation_p.D559Y			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	559	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCTGATGATGATAGAGCTTC	0.333																																						dbGAP											0													54.0	57.0	56.0					10																	27459563		2203	4298	6501	-	-	-	SO:0001583	missense	0			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1675G>T	10.37:g.27459563G>T	ENSP00000365107:p.Asp559Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D559Y	ENST00000375940.4	37	c.1675	CCDS53502.1	10	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266012	0.59540	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.24908	1.83;1.83;1.83	5.45	5.45	0.79879	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.487263	0.24587	N	0.037258	T	0.48333	0.1494	M	0.62723	1.935	0.35183	D	0.772689	D;P;D	0.58620	0.964;0.94;0.983	P;P;P	0.61201	0.805;0.664;0.885	T	0.57866	-0.7737	10	0.59425	D	0.04	-5.9303	19.2787	0.94042	0.0:0.0:1.0:0.0	.	559;559;559	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	Y	559	ENSP00000365113:D559Y;ENSP00000343446:D559Y;ENSP00000365107:D559Y	ENSP00000343446:D559Y	D	+	1	0	MASTL	27499569	1.000000	0.71417	0.992000	0.48379	0.766000	0.43426	7.549000	0.82163	2.548000	0.85928	0.491000	0.48974	GAT	MASTL	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000120539		0.333	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MASTL	HGNC	protein_coding	OTTHUMT00000047320.1	34	0.00	0	G	NM_032844		27459563	27459563	+1	no_errors	ENST00000375940	ensembl	human	known	69_37n	missense	29	14.71	5	SNP	1.000	T
MBLAC1	255374	genome.wustl.edu	37	7	99725743	99725743	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:99725743C>G	ENST00000398075.2	+	2	1124	c.725C>G	c.(724-726)tCg>tGg	p.S242W	AC073842.19_ENST00000376482.3_RNA|RP11-506M12.1_ENST00000494221.1_RNA	NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	242							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.S242L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						AGGGAAGCCTCGCAGCCCGAG	0.677																																						dbGAP											1	Substitution - Missense(1)	lung(1)											18.0	23.0	21.0					7																	99725743		1957	4127	6084	-	-	-	SO:0001583	missense	0			BC031288	CCDS43620.1	7q22	2014-02-12	2009-04-08		ENSG00000214309	ENSG00000214309			22180	protein-coding gene	gene with protein product							Standard	XM_005250250		Approved	MGC49416	uc003utp.3	A4D2B0	OTTHUMG00000154846	ENST00000398075.2:c.725C>G	7.37:g.99725743C>G	ENSP00000381150:p.Ser242Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5X8	Missense_Mutation	SNP	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.S242W	ENST00000398075.2	37	c.725	CCDS43620.1	7	.	.	.	.	.	.	.	.	.	.	C	8.447	0.852193	0.17034	.	.	ENSG00000214309	ENST00000398075	T	0.32515	1.45	3.33	-1.18	0.09617	.	3.691790	0.01401	U	0.013610	T	0.20495	0.0493	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28618	-1.0038	10	0.66056	D	0.02	.	4.5373	0.12040	0.0:0.3604:0.4033:0.2363	.	242	A4D2B0	MBLC1_HUMAN	W	242	ENSP00000381150:S242W	ENSP00000381150:S242W	S	+	2	0	MBLAC1	99563679	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.212000	0.17497	-0.138000	0.11434	-0.215000	0.12644	TCG	MBLAC1	-	NULL	ENSG00000214309		0.677	MBLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBLAC1	HGNC	protein_coding	OTTHUMT00000337353.1	42	0.00	0	C	NM_203397		99725743	99725743	+1	no_errors	ENST00000398075	ensembl	human	known	69_37n	missense	46	16.36	9	SNP	0.000	G
MBTPS2	51360	genome.wustl.edu	37	X	21863500	21863500	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:21863500G>C	ENST00000379484.5	+	3	535	c.436G>C	c.(436-438)Gtg>Ctg	p.V146L	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Missense_Mutation_p.V146L	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	146					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GTTACAAGTTGTGGTAAGTAT	0.368																																						dbGAP											0													57.0	45.0	49.0					X																	21863500		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.436G>C	X.37:g.21863500G>C	ENSP00000368798:p.Val146Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UM70|Q9UMD3	Missense_Mutation	SNP	pfam_Peptidase_M50,superfamily_PDZ,prints_Pept_M50_SREBP	p.V146L	ENST00000379484.5	37	c.436	CCDS14201.1	X	.	.	.	.	.	.	.	.	.	.	G	15.22	2.770272	0.49680	.	.	ENSG00000012174	ENST00000379484;ENST00000365779	D;D	0.92858	-3.12;-1.91	4.8	4.8	0.61643	.	0.575433	0.18045	N	0.153471	D	0.86201	0.5876	L	0.36672	1.1	0.44843	D	0.997854	B;B;B	0.31680	0.335;0.335;0.209	B;B;B	0.31016	0.123;0.123;0.03	T	0.82155	-0.0597	10	0.08599	T	0.76	-2.3593	13.7367	0.62821	0.0:0.0:1.0:0.0	.	146;146;146	A8KA68;O43462;B9ZVQ3	.;MBTP2_HUMAN;.	L	146	ENSP00000368798:V146L;ENSP00000368796:V146L	ENSP00000368796:V146L	V	+	1	0	MBTPS2	21773421	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	6.569000	0.73992	2.342000	0.79632	0.544000	0.68410	GTG	MBTPS2	-	prints_Pept_M50_SREBP	ENSG00000012174		0.368	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS2	HGNC	protein_coding	OTTHUMT00000056026.1	62	0.00	0	G			21863500	21863500	+1	no_errors	ENST00000379484	ensembl	human	known	69_37n	missense	45	11.76	6	SNP	1.000	C
MCM3AP	8888	genome.wustl.edu	37	21	47686981	47686981	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr21:47686981C>T	ENST00000397708.1	-	11	2958	c.2704G>A	c.(2704-2706)Gat>Aat	p.D902N	MCM3AP_ENST00000291688.1_Missense_Mutation_p.D902N			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	902	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					ACCACACCATCCAGGGGAAAG	0.577																																						dbGAP											0													116.0	79.0	91.0					21																	47686981		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2704G>A	21.37:g.47686981C>T	ENSP00000380820:p.Asp902Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.D902N	ENST00000397708.1	37	c.2704	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651142	0.67472	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.30448	1.53;1.53	5.87	4.96	0.65561	.	0.046471	0.85682	D	0.000000	T	0.33556	0.0867	L	0.41492	1.28	0.48571	D	0.999673	B	0.34241	0.444	B	0.41374	0.355	T	0.07443	-1.0772	10	0.44086	T	0.13	-30.3583	16.454	0.84007	0.1317:0.8683:0.0:0.0	.	902	O60318	MCM3A_HUMAN	N	902	ENSP00000380820:D902N;ENSP00000291688:D902N	ENSP00000291688:D902N	D	-	1	0	MCM3AP	46511409	1.000000	0.71417	0.996000	0.52242	0.119000	0.20118	3.639000	0.54339	2.781000	0.95711	0.655000	0.94253	GAT	MCM3AP	-	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	ENSG00000160294		0.577	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	25	0.00	0	C	NM_003906		47686981	47686981	-1	no_errors	ENST00000291688	ensembl	human	known	69_37n	missense	25	31.58	12	SNP	1.000	T
MCM3AP	8888	genome.wustl.edu	37	21	47687012	47687012	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr21:47687012C>T	ENST00000397708.1	-	11	2927	c.2673G>A	c.(2671-2673)gtG>gtA	p.V891V	MCM3AP_ENST00000291688.1_Silent_p.V891V			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	891	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GCTGTGTGCTCACCGTGTACG	0.582																																						dbGAP											0													115.0	76.0	89.0					21																	47687012		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2673G>A	21.37:g.47687012C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.V891	ENST00000397708.1	37	c.2673	CCDS13734.1	21																																																																																			MCM3AP	-	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	ENSG00000160294		0.582	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	34	0.00	0	C	NM_003906		47687012	47687012	-1	no_errors	ENST00000291688	ensembl	human	known	69_37n	silent	31	27.91	12	SNP	0.998	T
MDH1B	130752	genome.wustl.edu	37	2	207619836	207619836	+	Missense_Mutation	SNP	C	C	T	rs374037340		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:207619836C>T	ENST00000374412.3	-	5	1082	c.807G>A	c.(805-807)atG>atA	p.M269I	MDH1B_ENST00000449792.1_Missense_Mutation_p.M171I|MDH1B_ENST00000454776.2_Missense_Mutation_p.M269I|MDH1B_ENST00000392214.2_Intron	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	269					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)	p.M269I(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GGGCATATCTCATGAGTAAAA	0.488																																					Pancreas(76;29 1355 28675 37177 51207)	dbGAP											1	Substitution - Missense(1)	lung(1)											131.0	116.0	121.0					2																	207619836		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.807G>A	2.37:g.207619836C>T	ENSP00000363533:p.Met269Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C	p.M269I	ENST00000374412.3	37	c.807	CCDS33365.1	2	.	.	.	.	.	.	.	.	.	.	C	0.395	-0.921216	0.02396	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.08370	3.1;3.1;3.1	5.59	0.615	0.17608	NAD(P)-binding domain (1);	0.604868	0.19796	N	0.105878	T	0.04724	0.0128	N	0.21194	0.64	0.09310	N	0.999998	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.002	T	0.45702	-0.9243	10	0.13108	T	0.6	-11.3068	7.9048	0.29755	0.0:0.5875:0.1015:0.311	.	269;269	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	I	269;171;269	ENSP00000363533:M269I;ENSP00000416577:M171I;ENSP00000389916:M269I	ENSP00000363533:M269I	M	-	3	0	MDH1B	207328081	0.038000	0.19896	0.000000	0.03702	0.001000	0.01503	0.317000	0.19487	0.107000	0.17824	-0.136000	0.14681	ATG	MDH1B	-	NULL	ENSG00000138400		0.488	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDH1B	HGNC	protein_coding	OTTHUMT00000256429.2	48	0.00	0	C	NM_001039845		207619836	207619836	-1	no_errors	ENST00000374412	ensembl	human	known	69_37n	missense	51	15.00	9	SNP	0.004	T
MEFV	4210	genome.wustl.edu	37	16	3294475	3294475	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:3294475G>A	ENST00000219596.1	-	7	1763	c.1724C>T	c.(1723-1725)tCa>tTa	p.S575L	MEFV_ENST00000541159.1_Missense_Mutation_p.S364L|MEFV_ENST00000339854.4_Missense_Mutation_p.S395L|MEFV_ENST00000536379.1_Missense_Mutation_p.S364L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	575	Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.S575*(2)|p.S364*(2)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CCATCTACCTGAGAAGTACTT	0.507																																						dbGAP											4	Substitution - Nonsense(4)	lung(4)											171.0	154.0	160.0					16																	3294475		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1724C>T	16.37:g.3294475G>A	ENSP00000219596:p.Ser575Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.S575L	ENST00000219596.1	37	c.1724	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	G	5.329	0.246077	0.10077	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.66280	-0.2;0.23;0.22;0.24	5.24	0.793	0.18632	.	0.704921	0.12402	N	0.472032	T	0.34803	0.0910	N	0.11064	0.09	0.25305	N	0.989247	B	0.06786	0.001	B	0.06405	0.002	T	0.22243	-1.0222	10	0.06625	T	0.88	-33.4534	8.3407	0.32241	0.4026:0.0:0.5974:0.0	.	575	O15553	MEFV_HUMAN	L	575;575;395;364;364;364	ENSP00000219596:S575L;ENSP00000339639:S395L;ENSP00000438711:S364L;ENSP00000445079:S364L	ENSP00000219596:S575L	S	-	2	0	MEFV	3234476	0.601000	0.26907	0.830000	0.32933	0.008000	0.06430	0.152000	0.16302	0.080000	0.16959	-1.119000	0.02030	TCA	MEFV	-	NULL	ENSG00000103313		0.507	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	94	0.00	0	G	NM_000243		3294475	3294475	-1	no_errors	ENST00000219596	ensembl	human	known	69_37n	missense	97	32.64	47	SNP	0.784	A
MEFV	4210	genome.wustl.edu	37	16	3294548	3294548	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:3294548G>A	ENST00000219596.1	-	7	1690	c.1651C>T	c.(1651-1653)Caa>Taa	p.Q551*	MEFV_ENST00000541159.1_Nonsense_Mutation_p.Q340*|MEFV_ENST00000339854.4_Nonsense_Mutation_p.Q371*|MEFV_ENST00000536379.1_Nonsense_Mutation_p.Q340*	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	551	Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						TTTATCTCTTGAGGAGTGGTC	0.512																																						dbGAP											0													152.0	141.0	144.0					16																	3294548		2197	4300	6497	-	-	-	SO:0001587	stop_gained	0			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1651C>T	16.37:g.3294548G>A	ENSP00000219596:p.Gln551*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Nonsense_Mutation	SNP	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.Q551*	ENST00000219596.1	37	c.1651	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	G	13.83	2.352764	0.41700	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	.	.	.	5.07	0.873	0.19118	.	0.729507	0.12320	N	0.479329	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-26.9533	8.3212	0.32130	0.0858:0.464:0.4502:0.0	.	.	.	.	X	551;551;371;340;340;340	.	ENSP00000219596:Q551X	Q	-	1	0	MEFV	3234549	0.866000	0.29940	0.001000	0.08648	0.002000	0.02628	0.115000	0.15540	0.049000	0.15920	-1.054000	0.02325	CAA	MEFV	-	NULL	ENSG00000103313		0.512	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	72	0.00	0	G	NM_000243		3294548	3294548	-1	no_errors	ENST00000219596	ensembl	human	known	69_37n	nonsense	70	35.19	38	SNP	0.001	A
MEFV	4210	genome.wustl.edu	37	16	3299509	3299509	+	Silent	SNP	G	G	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:3299509G>T	ENST00000219596.1	-	3	1221	c.1182C>A	c.(1180-1182)atC>atA	p.I394I	MEFV_ENST00000541159.1_Silent_p.I183I|MEFV_ENST00000339854.4_Silent_p.I214I|MEFV_ENST00000536379.1_Silent_p.I183I	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	394					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						AGATGAGGCAGATGGGCTCAT	0.632																																						dbGAP											0													67.0	60.0	63.0					16																	3299509		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1182C>A	16.37:g.3299509G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.I394	ENST00000219596.1	37	c.1182	CCDS10498.1	16																																																																																			MEFV	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	ENSG00000103313		0.632	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	23	0.00	0	G	NM_000243		3299509	3299509	-1	no_errors	ENST00000219596	ensembl	human	known	69_37n	silent	32	38.46	20	SNP	0.047	T
MEGF8	1954	genome.wustl.edu	37	19	42848852	42848852	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:42848852C>G	ENST00000251268.6	+	12	1964	c.1964C>G	c.(1963-1965)tCa>tGa	p.S655*	MEGF8_ENST00000334370.4_Nonsense_Mutation_p.S655*	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	655					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.S655*(2)|p.S196*(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GAGCAGATCTCAGGCACTGTG	0.687																																						dbGAP											3	Substitution - Nonsense(3)	urinary_tract(3)											49.0	53.0	52.0					19																	42848852		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1964C>G	19.37:g.42848852C>G	ENSP00000251268:p.Ser655*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAY0|O75097	Nonsense_Mutation	SNP	pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EGF-like,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin	p.S655*	ENST00000251268.6	37	c.1964		19	.	.	.	.	.	.	.	.	.	.	C	45	12.013879	0.99627	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	.	.	.	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.6333	15.489	0.75590	0.0:1.0:0.0:0.0	.	.	.	.	X	655	.	ENSP00000251268:S655X	S	+	2	0	MEGF8	47540692	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.972000	0.63756	2.252000	0.74401	0.457000	0.33378	TCA	MEGF8	-	NULL	ENSG00000105429		0.687	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	57	0.00	0	C	NM_001410		42848852	42848852	+1	no_errors	ENST00000251268	ensembl	human	known	69_37n	nonsense	57	22.97	17	SNP	1.000	G
METTL21A	151194	genome.wustl.edu	37	2	208485392	208485392	+	Intron	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:208485392G>A	ENST00000411432.1	-	3	476				METTL21A_ENST00000406927.2_Intron|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000448007.2_Intron|METTL21A_ENST00000448823.2_Intron|METTL21A_ENST00000272839.3_Silent_p.L96L|METTL21A_ENST00000442521.1_Intron|METTL21A_ENST00000426075.1_Intron|METTL21A_ENST00000432416.1_Intron	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A						peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						CAGTGTACCAGCAAGGGCTTC	0.428																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 557b"", ""heat shock protein 70kDa lysine (K) methyltransferase"""	615257	"""family with sequence similarity 119, member A"""	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.259+1137C>T	2.37:g.208485392G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53RV0|Q8N1Z9|Q96GH6	Silent	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.L96	ENST00000411432.1	37	c.286	CCDS2376.1	2																																																																																			METTL21A	-	pfam_Nicotinamide_N-MeTfrase-like	ENSG00000144401		0.428	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL21A	HGNC	protein_coding	OTTHUMT00000337044.1	24	0.00	0	G	NM_145280		208485392	208485392	-1	no_errors	ENST00000272839	ensembl	human	novel	69_37n	silent	19	24.00	6	SNP	0.000	A
MFSD12	126321	genome.wustl.edu	37	19	3551104	3551104	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:3551104G>A	ENST00000355415.2	-	2	556	c.387C>T	c.(385-387)ctC>ctT	p.L129L	MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000389395.3_Silent_p.L129L|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Silent_p.L129L	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	129					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GGCCGTAGTAGAGGAGGGCAG	0.637																																						dbGAP											0													30.0	37.0	35.0					19																	3551104		2065	4186	6251	-	-	-	SO:0001819	synonymous_variant	0			AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 28"""	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.387C>T	19.37:g.3551104G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXP7|D6W615|E9PAJ8|Q8N459	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L129	ENST00000355415.2	37	c.387	CCDS42465.1	19																																																																																			MFSD12	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000161091		0.637	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MFSD12	HGNC	protein_coding	OTTHUMT00000452949.2	43	0.00	0	G	NM_174983		3551104	3551104	-1	no_errors	ENST00000398558	ensembl	human	known	69_37n	silent	39	17.02	8	SNP	0.997	A
MFSD12	126321	genome.wustl.edu	37	19	3557256	3557256	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:3557256G>A	ENST00000355415.2	-	1	315	c.146C>T	c.(145-147)tCg>tTg	p.S49L	MFSD12_ENST00000591878.1_Intron|AC005786.5_ENST00000592368.1_lincRNA|MFSD12_ENST00000389395.3_Missense_Mutation_p.S49L|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Missense_Mutation_p.S49L	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	49					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.S49W(2)		cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GGCGCGCACCGAGTGCAGGTA	0.711																																						dbGAP											2	Substitution - Missense(2)	cervix(2)											16.0	20.0	19.0					19																	3557256		2083	4217	6300	-	-	-	SO:0001583	missense	0			AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 28"""	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.146C>T	19.37:g.3557256G>A	ENSP00000347583:p.Ser49Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXP7|D6W615|E9PAJ8|Q8N459	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S49L	ENST00000355415.2	37	c.146	CCDS42465.1	19	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588350	0.28357	.	.	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	D;D;D	0.87650	-2.28;-2.28;-2.28	3.59	3.59	0.41128	Major facilitator superfamily domain, general substrate transporter (1);	0.262738	0.32372	N	0.006181	T	0.82254	0.4997	L	0.28115	0.83	0.42954	D	0.99438	B;D;D	0.55800	0.046;0.959;0.973	B;B;P	0.48227	0.016;0.341;0.571	T	0.80730	-0.1252	10	0.24483	T	0.36	-8.3078	14.6885	0.69068	0.0:0.0:1.0:0.0	.	49;49;49	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	L	49	ENSP00000374046:S49L;ENSP00000381566:S49L;ENSP00000347583:S49L	ENSP00000347583:S49L	S	-	2	0	C19orf28	3508256	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.864000	0.62990	1.985000	0.57927	0.561000	0.74099	TCG	MFSD12	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000161091		0.711	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MFSD12	HGNC	protein_coding	OTTHUMT00000452949.2	10	0.00	0	G	NM_174983		3557256	3557256	-1	no_errors	ENST00000398558	ensembl	human	known	69_37n	missense	13	38.10	8	SNP	0.999	A
MGA	23269	genome.wustl.edu	37	15	41961442	41961442	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr15:41961442C>G	ENST00000570161.1	+	1	350	c.350C>G	c.(349-351)tCa>tGa	p.S117*	MGA_ENST00000568630.1_Intron|MGA_ENST00000545763.1_Nonsense_Mutation_p.S117*|MGA_ENST00000219905.7_Nonsense_Mutation_p.S117*|MGA_ENST00000566586.1_Nonsense_Mutation_p.S117*|MGA_ENST00000389936.4_Nonsense_Mutation_p.S117*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				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)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGTTTAGATTCAAATTTGAAG	0.408																																						dbGAP											0													171.0	171.0	171.0					15																	41961442		1882	4102	5984	-	-	-	SO:0001587	stop_gained	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.350C>G	15.37:g.41961442C>G	ENSP00000457035:p.Ser117*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box	p.S117*	ENST00000570161.1	37	c.350	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.461807	0.97585	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.51	5.51	0.81932	.	0.200233	0.47455	D	0.000228	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.7791	0.96410	0.0:1.0:0.0:0.0	.	.	.	.	X	117	.	ENSP00000219905:S117X	S	+	2	0	MGA	39748734	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.048000	0.71046	2.763000	0.94921	0.650000	0.86243	TCA	MGA	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000174197		0.408	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	110	0.00	0	C	NM_001164273.1		41961442	41961442	+1	no_errors	ENST00000219905	ensembl	human	known	69_37n	nonsense	78	14.29	13	SNP	1.000	G
MGAM	8972	genome.wustl.edu	37	7	141781887	141781887	+	Intron	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:141781887C>G	ENST00000549489.2	+	39	4713				MGAM_ENST00000475668.2_Missense_Mutation_p.I2016M	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						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)	ACATGTTTATCCGCATCTCCA	0.502																																						dbGAP											0																																										-	-	-	SO:0001627	intron_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.4619-12533C>G	7.37:g.141781887C>G		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.I2017M	ENST00000549489.2	37	c.6051	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214883	0.39102	.	.	ENSG00000257335	ENST00000475668	.	.	.	5.1	-1.52	0.08637	.	.	.	.	.	T	0.33585	0.0868	.	.	.	0.23946	N	0.99638	.	.	.	.	.	.	T	0.40001	-0.9586	5	0.72032	D	0.01	.	2.5206	0.04679	0.1162:0.3867:0.1141:0.3829	.	.	.	.	M	2017	.	ENSP00000417515:I2017M	I	+	3	3	MGAM	141428356	0.006000	0.16342	0.997000	0.53966	0.985000	0.73830	-1.040000	0.03546	0.010000	0.14839	0.561000	0.74099	ATC	MGAM	-	superfamily_Glyco_hydro-type_carb-bd	ENSG00000257335		0.502	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	32	0.00	0	C			141781887	141781887	+1	no_errors	ENST00000475668	ensembl	human	putative	69_37n	missense	34	15.00	6	SNP	0.909	G
MICAL3	57553	genome.wustl.edu	37	22	18301756	18301756	+	Missense_Mutation	SNP	C	C	G	rs555800332		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr22:18301756C>G	ENST00000441493.2	-	26	4023	c.3671G>C	c.(3670-3672)cGa>cCa	p.R1224P		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1224	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TGGCTGTGATCGGATGGGAGA	0.632																																						dbGAP											0													16.0	19.0	18.0					22																	18301756		1969	4130	6099	-	-	-	SO:0001583	missense	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.3671G>C	22.37:g.18301756C>G	ENSP00000416015:p.Arg1224Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.R1224P	ENST00000441493.2	37	c.3671	CCDS46659.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.08|10.08	1.251279|1.251279	0.22880|0.22880	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000252134|ENST00000441493	.|T	.|0.64991	.|-0.13	4.73|4.73	2.6|2.6	0.31112|0.31112	.|.	.|.	.|.	.|.	.|.	T|T	0.55353|0.55353	0.1915|0.1915	M|M	0.69823|0.69823	2.125|2.125	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.43857	.|0.819	.|B	.|0.39503	.|0.301	T|T	0.49532|0.49532	-0.8930|-0.8930	5|9	.|0.31617	.|T	.|0.26	.|.	7.1242|7.1242	0.25463|0.25463	0.1451:0.6996:0.0:0.1553|0.1451:0.6996:0.0:0.1553	.|.	.|1224	.|Q7RTP6	.|MICA3_HUMAN	H|P	206|1224	.|ENSP00000416015:R1224P	.|ENSP00000416015:R1224P	D|R	-|-	1|2	0|0	XXbac-B461K10.4|XXbac-B461K10.4	16681756|16681756	0.750000|0.750000	0.28316|0.28316	0.145000|0.145000	0.22337|0.22337	0.049000|0.049000	0.14656|0.14656	2.490000|2.490000	0.45294|0.45294	0.421000|0.421000	0.25980|0.25980	0.563000|0.563000	0.77884|0.77884	GAT|CGA	MICAL3	-	NULL	ENSG00000243156		0.632	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	78	0.00	0	C			18301756	18301756	-1	no_errors	ENST00000441493	ensembl	human	known	69_37n	missense	71	15.48	13	SNP	0.686	G
MICALL2	79778	genome.wustl.edu	37	7	1474033	1474033	+	3'UTR	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:1474033G>A	ENST00000297508.7	-	0	3089				MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_3'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2						actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TGAGACCACAGACGGTAGCGC	0.672																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.*199C>T	7.37:g.1474033G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	RNA	SNP	-	NULL	ENST00000297508.7	37	NULL	CCDS5324.1	7																																																																																			MICALL2	-	-	ENSG00000164877		0.672	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL2	HGNC	protein_coding	OTTHUMT00000239223.2	36	0.00	0	G	NM_182924		1474033	1474033	-1	no_errors	ENST00000471899	ensembl	human	known	69_37n	rna	41	21.15	11	SNP	0.001	A
MID1	4281	genome.wustl.edu	37	X	10535385	10535385	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:10535385C>T	ENST00000317552.4	-	2	603	c.203G>A	c.(202-204)cGa>cAa	p.R68Q	MID1_ENST00000453318.2_Missense_Mutation_p.R68Q|MID1_ENST00000380780.1_Missense_Mutation_p.R68Q|MID1_ENST00000380785.1_Missense_Mutation_p.R68Q|MID1_ENST00000380787.1_Missense_Mutation_p.R68Q|MID1_ENST00000380782.2_Missense_Mutation_p.R68Q|MID1_ENST00000380779.1_Missense_Mutation_p.R68Q	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	68					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GTCTAGACCTCGCTGGCTGAG	0.597																																						dbGAP											0													124.0	94.0	104.0					X																	10535385		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.203G>A	X.37:g.10535385C>T	ENSP00000312678:p.Arg68Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R68Q	ENST00000317552.4	37	c.203	CCDS14138.1	X	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597303	0.66332	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894;ENST00000423614	T;T;T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.99;0.99;0.55	5.64	5.64	0.86602	Zinc finger, RING/FYVE/PHD-type (1);	0.056251	0.64402	D	0.000001	T	0.49236	0.1545	M	0.65975	2.015	0.52099	D	0.999948	P;P;B;P;P;P	0.43885	0.577;0.71;0.108;0.703;0.82;0.527	B;B;B;B;B;B	0.33254	0.109;0.135;0.024;0.16;0.135;0.06	T	0.52260	-0.8599	10	0.25106	T	0.35	.	18.7983	0.92005	0.0:1.0:0.0:0.0	.	68;68;68;68;68;68	C9JZJ7;B7Z5K6;C9J453;O15344-2;A8K5A0;O15344	.;.;.;.;.;TRI18_HUMAN	Q	68	ENSP00000414521:R68Q;ENSP00000312678:R68Q;ENSP00000370162:R68Q;ENSP00000370156:R68Q;ENSP00000370164:R68Q;ENSP00000370157:R68Q;ENSP00000370159:R68Q;ENSP00000391154:R68Q;ENSP00000387771:R68Q	ENSP00000312678:R68Q	R	-	2	0	MID1	10495385	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.705000	0.68355	2.386000	0.81285	0.600000	0.82982	CGA	MID1	-	NULL	ENSG00000101871		0.597	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MID1	HGNC	protein_coding	OTTHUMT00000055738.1	38	0.00	0	C			10535385	10535385	-1	no_errors	ENST00000317552	ensembl	human	known	69_37n	missense	53	19.70	13	SNP	1.000	T
MIR1257	100302168	genome.wustl.edu	37	20	60528681	60528681	+	RNA	SNP	A	A	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:60528681A>G	ENST00000408490.1	-	0	37					NR_031658.1				microRNA 1257																		CATGGGGGTCAGAACCCATCA	0.682																																						dbGAP											0													20.0	25.0	23.0					20																	60528681		1538	3530	5068	-	-	-			0					20q13.33	2011-09-12		2008-12-18	ENSG00000221417	ENSG00000221417		"""ncRNAs / Micro RNAs"""	35322	non-coding RNA	RNA, micro				MIRN1257			Standard	NR_031658		Approved	hsa-mir-1257	uc021wfv.1				20.37:g.60528681A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000408490.1	37	NULL		20																																																																																			MIR1257	-	-	ENSG00000221417		0.682	MIR1257-201	KNOWN	basic	miRNA	MIR1257	HGNC	miRNA		27	0.00	0	A	NR_031658		60528681	60528681	-1	no_errors	ENST00000408490	ensembl	human	known	69_37n	rna	35	10.26	4	SNP	0.012	G
MIR3689A	100500846	genome.wustl.edu	37	9	137741455	137741455	+	RNA	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:137741455C>G	ENST00000578854.1	-	0	0				MIR3689F_ENST00000579617.1_RNA|MIR3689D2_ENST00000580187.1_RNA|MIR3689D1_ENST00000579706.1_RNA|AL603650.1_ENST00000583957.1_RNA|AL603650.4_ENST00000583817.1_RNA|MIR3689B_ENST00000581772.1_RNA|MIR3689C_ENST00000581239.1_RNA|AL603650.2_ENST00000581079.1_RNA|MIR3689E_ENST00000582479.1_RNA|AL603650.3_ENST00000582742.1_RNA	NR_037460.1				microRNA 3689a																		TCACACCTCTCAGGAAGAACA	0.592																																						dbGAP											0																																										-	-	-			0					9	2011-09-12				ENSG00000265872		"""ncRNAs / Micro RNAs"""	38904	non-coding RNA	RNA, micro							Standard	NR_037460		Approved	hsa-mir-3689a	uc022bpb.1				9.37:g.137741455C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000578854.1	37	NULL		9																																																																																			MIR3689D1	-	-	ENSG00000265848		0.592	MIR3689A-201	KNOWN	basic	miRNA	MIR3689D1	HGNC	miRNA		30	0.00	0	C	NR_037460		137741455	137741455	-1	no_errors	ENST00000579706	ensembl	human	known	69_37n	rna	24	22.58	7	SNP	0.449	G
NIFK	84365	genome.wustl.edu	37	2	122493199	122493199	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:122493199C>G	ENST00000285814.4	-	2	305	c.233G>C	c.(232-234)aGa>aCa	p.R78T		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		78	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						CCTTTTACTTCTGGACAGCCT	0.403																																						dbGAP											0													112.0	112.0	112.0					2																	122493199		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000285814.4:c.233G>C	2.37:g.122493199C>G	ENSP00000285814:p.Arg78Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K788|Q8TB66|Q96ED4	Missense_Mutation	SNP	pfam_hNIFK_FHA_Ki67_binding,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R78T	ENST00000285814.4	37	c.233	CCDS2135.1	2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645138	0.87859	.	.	ENSG00000155438	ENST00000285814;ENST00000409201;ENST00000451734	T;T	0.37584	1.19;1.19	4.28	4.28	0.50868	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.57489	0.2057	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.978	T	0.62272	-0.6889	10	0.87932	D	0	-23.43	12.5486	0.56214	0.0:1.0:0.0:0.0	.	78;78	B4DSM4;Q9BYG3	.;MK67I_HUMAN	T	78;78;46	ENSP00000285814:R78T;ENSP00000398116:R46T	ENSP00000285814:R78T	R	-	2	0	MKI67IP	122209669	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.058000	0.71126	2.093000	0.63338	0.561000	0.74099	AGA	MKI67IP	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000155438		0.403	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKI67IP	HGNC	protein_coding	OTTHUMT00000254239.2	34	0.00	0	C			122493199	122493199	-1	no_errors	ENST00000285814	ensembl	human	known	69_37n	missense	25	32.43	12	SNP	1.000	G
MKL2	57496	genome.wustl.edu	37	16	14345861	14345861	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:14345861G>A	ENST00000341243.5	+	12	2513	c.2513G>A	c.(2512-2514)gGa>gAa	p.G838E	MKL2_ENST00000574045.1_Missense_Mutation_p.G799E|MKL2_ENST00000571589.1_Missense_Mutation_p.G849E|MKL2_ENST00000318282.5_Missense_Mutation_p.G799E			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	838					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGCAAAATGGACCTAACACA	0.517																																						dbGAP											0													85.0	78.0	80.0					16																	14345861		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2513G>A	16.37:g.14345861G>A	ENSP00000345841:p.Gly838Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.G838E	ENST00000341243.5	37	c.2513		16	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744552	0.69418	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.63	4.68	0.58851	.	0.122555	0.53938	D	0.000050	T	0.69495	0.3117	M	0.66939	2.045	0.47341	D	0.999397	B;D	0.89917	0.053;1.0	B;D	0.97110	0.038;1.0	T	0.66850	-0.5819	9	0.11794	T	0.64	-19.4367	12.0137	0.53301	0.0799:0.0:0.9201:0.0	.	849;799	B4DGT8;Q9ULH7-4	.;.	E	799;838	.	ENSP00000339086:G799E	G	+	2	0	MKL2	14253362	1.000000	0.71417	0.328000	0.25416	0.959000	0.62525	6.332000	0.72934	1.388000	0.46506	0.655000	0.94253	GGA	MKL2	-	NULL	ENSG00000186260		0.517	MKL2-202	KNOWN	basic	protein_coding	MKL2	HGNC	protein_coding		37	0.00	0	G	NM_014048		14345861	14345861	+1	no_errors	ENST00000341243	ensembl	human	known	69_37n	missense	30	26.83	11	SNP	0.989	A
MLH3	27030	genome.wustl.edu	37	14	75509098	75509098	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:75509098C>T	ENST00000556740.1	-	2	3398	c.3363G>A	c.(3361-3363)atG>atA	p.M1121I	MLH3_ENST00000555671.1_Intron|MLH3_ENST00000238662.7_Missense_Mutation_p.M1121I|MLH3_ENST00000380968.2_Missense_Mutation_p.M67I|MLH3_ENST00000544985.1_Missense_Mutation_p.M116I|MLH3_ENST00000556257.1_Intron|MLH3_ENST00000355774.2_Missense_Mutation_p.M1121I			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1121					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TATCCTGTCTCATCACAGTCC	0.463								Mismatch excision repair (MMR)																														dbGAP											0													156.0	148.0	151.0					14																	75509098		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.3363G>A	14.37:g.75509098C>T	ENSP00000452316:p.Met1121Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C	p.M1121I	ENST00000556740.1	37	c.3363	CCDS32123.1	14	.	.	.	.	.	.	.	.	.	.	C	9.532	1.110993	0.20714	.	.	ENSG00000119684	ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556740;ENST00000544985	T;T;T;T;T	0.79940	-1.31;0.74;-1.32;-1.31;0.55	5.81	5.81	0.92471	.	0.727812	0.13661	N	0.371619	T	0.73140	0.3549	L	0.44542	1.39	0.26290	N	0.97815	B;B	0.21225	0.053;0.051	B;B	0.16722	0.014;0.016	T	0.59931	-0.7361	10	0.30854	T	0.27	-0.1412	9.8339	0.40958	0.0:0.8128:0.0:0.1872	.	1121;1121	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	I	1121;67;1121;1121;116	ENSP00000348020:M1121I;ENSP00000370355:M67I;ENSP00000238662:M1121I;ENSP00000452316:M1121I;ENSP00000441371:M116I	ENSP00000238662:M1121I	M	-	3	0	MLH3	74578851	1.000000	0.71417	0.949000	0.38748	0.165000	0.22458	2.369000	0.44231	2.746000	0.94184	0.591000	0.81541	ATG	MLH3	-	NULL	ENSG00000119684		0.463	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	HGNC	protein_coding	OTTHUMT00000415006.1	62	0.00	0	C	NM_014381		75509098	75509098	-1	no_errors	ENST00000355774	ensembl	human	known	69_37n	missense	61	16.44	12	SNP	0.976	T
KMT2E	55904	genome.wustl.edu	37	7	104748225	104748225	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:104748225G>A	ENST00000311117.3	+	22	3866	c.3321G>A	c.(3319-3321)ctG>ctA	p.L1107L	SRPK2_ENST00000493638.1_5'Flank|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000257745.4_Silent_p.L1107L|KMT2E_ENST00000334877.4_Silent_p.L1107L|KMT2E_ENST00000334914.7_Silent_p.L162L	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1107					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)										CAAAGTGCCTGATGCAGGATG	0.463																																						dbGAP											0													92.0	90.0	91.0					7																	104748225		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.3321G>A	7.37:g.104748225G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Silent	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.L1107	ENST00000311117.3	37	c.3321	CCDS34723.1	7																																																																																			MLL5	-	NULL	ENSG00000005483		0.463	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL5	HGNC	protein_coding	OTTHUMT00000348697.1	75	0.00	0	G			104748225	104748225	+1	no_errors	ENST00000257745	ensembl	human	known	69_37n	silent	66	12.00	9	SNP	1.000	A
MMS22L	253714	genome.wustl.edu	37	6	97720877	97720877	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:97720877G>A	ENST00000275053.4	-	5	667	c.402C>T	c.(400-402)ctC>ctT	p.L134L	MMS22L_ENST00000369251.2_Silent_p.L134L|MMS22L_ENST00000506256.1_5'Flank	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	134					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TAACATAATGGAGAAATAGTA	0.338																																						dbGAP											0													151.0	154.0	153.0					6																	97720877		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.402C>T	6.37:g.97720877G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Silent	SNP	superfamily_ARM-type_fold	p.L134	ENST00000275053.4	37	c.402	CCDS5039.1	6																																																																																			MMS22L	-	NULL	ENSG00000146263		0.338	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	HGNC	protein_coding	OTTHUMT00000041573.3	31	0.00	0	G	NM_198468		97720877	97720877	-1	no_errors	ENST00000275053	ensembl	human	known	69_37n	silent	27	20.59	7	SNP	0.996	A
MPG	4350	genome.wustl.edu	37	16	135462	135462	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:135462C>T	ENST00000219431.4	+	5	814	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	NPRL3_ENST00000405960.3_5'Flank|MPG_ENST00000397817.1_Nonsense_Mutation_p.Q178*	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	195					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GACCATGCGTCAGCTTCGCAG	0.657								Base excision repair (BER), DNA glycosylases																														dbGAP											0													65.0	68.0	67.0					16																	135462		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"""alkyladenine DNA glycosylase"""	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.583C>T	16.37:g.135462C>T	ENSP00000219431:p.Gln195*	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Nonsense_Mutation	SNP	pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse	p.Q195*	ENST00000219431.4	37	c.583	CCDS32346.1	16	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280258	0.40294	.	.	ENSG00000103152	ENST00000436333;ENST00000397817;ENST00000356432;ENST00000219431	.	.	.	5.2	1.87	0.25490	.	0.306550	0.31145	N	0.008161	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-13.7796	2.7529	0.05286	0.2699:0.4087:0.2317:0.0896	.	.	.	.	X	178;178;190;195	.	ENSP00000219431:Q195X	Q	+	1	0	MPG	75462	0.993000	0.37304	0.959000	0.39883	0.939000	0.58152	0.393000	0.20817	0.531000	0.28639	0.462000	0.41574	CAG	MPG	-	pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse	ENSG00000103152		0.657	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MPG	HGNC	protein_coding	OTTHUMT00000109121.4	73	0.00	0	C			135462	135462	+1	no_errors	ENST00000219431	ensembl	human	known	69_37n	nonsense	93	11.43	12	SNP	0.998	T
MPV17L	255027	genome.wustl.edu	37	16	15494712	15494712	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:15494712C>T	ENST00000396385.3	+	2	498	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L	MPV17L_ENST00000287594.7_Intron|RP11-1021N1.1_ENST00000568222.1_Intron	NM_001128423.1	NP_001121895.1	Q2QL34	MP17L_HUMAN	MPV17 mitochondrial membrane protein-like	127					negative regulation of hydrogen peroxide biosynthetic process (GO:0010730)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|reactive oxygen species metabolic process (GO:0072593)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|skin(1)	4						GAATACCTATCTGGTAAGATA	0.264																																						dbGAP											0													75.0	66.0	69.0					16																	15494712		1568	3582	5150	-	-	-	SO:0001819	synonymous_variant	0			DQ004255	CCDS10560.1, CCDS45421.1	16p13.11	2009-04-06			ENSG00000156968	ENSG00000156968			26827	protein-coding gene	gene with protein product						16631601	Standard	NM_001128423		Approved	FLJ39599, MLPH1, MLPH2, MPV17L1	uc002ddn.2	Q2QL34	OTTHUMG00000129882	ENST00000396385.3:c.379C>T	16.37:g.15494712C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDY1|Q6P7T6|Q8N8E9	Silent	SNP	pfam_Mpv17_PMP22	p.L127	ENST00000396385.3	37	c.379	CCDS45421.1	16																																																																																			MPV17L	-	pfam_Mpv17_PMP22	ENSG00000156968		0.264	MPV17L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MPV17L	HGNC	protein_coding	OTTHUMT00000422450.1	56	0.00	0	C	NM_173803		15494712	15494712	+1	no_errors	ENST00000396385	ensembl	human	known	69_37n	silent	46	17.86	10	SNP	0.997	T
MRPS31P5	100887750	genome.wustl.edu	37	13	52744130	52744130	+	RNA	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr13:52744130C>T	ENST00000451298.1	-	0	2191				MRPS31P5_ENST00000416599.1_RNA																							ACCCTTTTCTCAGCATAGCAG	0.338																																						dbGAP											0																																										-	-	-			0																															13.37:g.52744130C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000451298.1	37	NULL		13																																																																																			RP11-64P12.8	-	-	ENSG00000217576		0.338	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	MRPS31P3	Clone_based_vega_gene	processed_transcript	OTTHUMT00000471093.1	80	0.00	0	C			52744130	52744130	-1	no_errors	ENST00000416599	ensembl	human	known	69_37n	rna	58	14.71	10	SNP	0.975	T
MRPS36	92259	genome.wustl.edu	37	5	68513905	68513905	+	Intron	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:68513905C>T	ENST00000256441.4	+	1	112				MRPS36_ENST00000602380.1_5'UTR|MRPS36_ENST00000512880.1_5'UTR|MRPS36_ENST00000507022.1_Intron	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36						translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		GCCGAGGGTTCGAGCCTTGCG	0.662																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS34174.1	5q13.2	2013-09-20			ENSG00000134056	ENSG00000134056		"""Mitochondrial ribosomal proteins / small subunits"""	16631	protein-coding gene	gene with protein product		611996				11279123	Standard	NM_033281		Approved	DC47, MRP-S36	uc003jvq.3	P82909	OTTHUMG00000162443	ENST00000256441.4:c.42+207C>T	5.37:g.68513905C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H2H4	RNA	SNP	-	NULL	ENST00000256441.4	37	NULL	CCDS34174.1	5																																																																																			MRPS36	-	-	ENSG00000134056		0.662	MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS36	HGNC	protein_coding	OTTHUMT00000368940.1	12	0.00	0	C	NM_033281		68513905	68513905	+1	no_errors	ENST00000503793	ensembl	human	known	69_37n	rna	10	28.57	4	SNP	0.000	T
MSH6	2956	genome.wustl.edu	37	2	48028099	48028099	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:48028099G>A	ENST00000234420.5	+	4	3129	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K	MSH6_ENST00000538136.1_Missense_Mutation_p.E691K|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.E863K	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	993					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTGCCAGAAGAATACGAGTT	0.428			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											72.0	71.0	71.0					2																	48028099		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.2977G>A	2.37:g.48028099G>A	ENSP00000234420:p.Glu993Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_PWWP,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP	p.E993K	ENST00000234420.5	37	c.2977	CCDS1836.1	2	.	.	.	.	.	.	.	.	.	.	G	17.07	3.296307	0.60086	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.92099	-2.97;-2.97;-2.97	5.61	5.61	0.85477	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.000000	0.85682	D	0.000000	D	0.93275	0.7857	L	0.60455	1.87	0.80722	D	1	P;P;D	0.54207	0.67;0.792;0.965	P;P;P	0.52309	0.516;0.516;0.695	D	0.91413	0.5152	10	0.27785	T	0.31	-20.3239	19.6351	0.95728	0.0:0.0:1.0:0.0	.	863;993;993	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	K	993;991;863;691	ENSP00000234420:E993K;ENSP00000446475:E863K;ENSP00000438580:E691K	ENSP00000234420:E993K	E	+	1	0	MSH6	47881603	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.835000	0.99442	2.634000	0.89283	0.563000	0.77884	GAA	MSH6	-	pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_Msh6	ENSG00000116062		0.428	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	17	0.00	0	G	NM_000179		48028099	48028099	+1	no_errors	ENST00000234420	ensembl	human	known	69_37n	missense	17	22.73	5	SNP	1.000	A
MTHFD1	4522	genome.wustl.edu	37	14	64924931	64924931	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:64924931G>A	ENST00000216605.8	+	27	2796		c.e27-1		MTHFD1_ENST00000545908.1_Intron|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|MTHFD1_ENST00000556284.1_Splice_Site	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase						folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	TTACATCCTAGATGAGCACAA	0.458																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	dbGAP											0													134.0	133.0	133.0					14																	64924931		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000216605.8:c.2719-1G>A	14.37:g.64924931G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Splice_Site	SNP	-	e27-1	ENST00000216605.8	37	c.2887-1	CCDS9763.1	14	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155919	0.78114	.	.	ENSG00000100714	ENST00000555709;ENST00000216605	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2319	0.89937	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTHFD1	63994684	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.229000	0.95273	2.621000	0.88768	0.591000	0.81541	.	MTHFD1	-	-	ENSG00000100714		0.458	MTHFD1-019	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD1	HGNC	protein_coding	OTTHUMT00000471593.1	40	0.00	0	G		Intron	64924931	64924931	+1	no_errors	ENST00000216605	ensembl	human	known	69_37n	splice_site	25	26.47	9	SNP	1.000	A
MTOR	2475	genome.wustl.edu	37	1	11175548	11175548	+	Intron	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:11175548C>G	ENST00000361445.4	-	51	7093				MTOR_ENST00000376838.1_Intron	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)						cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GAAGACAGATCAGGGAGGGAT	0.478																																						dbGAP											0													115.0	101.0	106.0					1																	11175548		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7017-23G>C	1.37:g.11175548C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	RNA	SNP	-	NULL	ENST00000361445.4	37	NULL	CCDS127.1	1																																																																																			MTOR	-	-	ENSG00000198793		0.478	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	39	0.00	0	C	NM_004958		11175548	11175548	-1	no_errors	ENST00000490931	ensembl	human	known	69_37n	rna	29	12.12	4	SNP	0.003	G
MUC17	140453	genome.wustl.edu	37	7	100683067	100683067	+	Silent	SNP	C	C	T	rs112360991		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:100683067C>T	ENST00000306151.4	+	3	8434	c.8370C>T	c.(8368-8370)tcC>tcT	p.S2790S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2790	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGCCAGTTCCTCTCCTACAA	0.507																																						dbGAP											0													257.0	254.0	255.0					7																	100683067		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8370C>T	7.37:g.100683067C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O14761|Q685J2|Q8TDH7	Silent	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.S2790	ENST00000306151.4	37	c.8370	CCDS34711.1	7																																																																																			MUC17	-	NULL	ENSG00000169876		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	69	0.00	0	C	NM_001040105		100683067	100683067	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	silent	75	16.67	15	SNP	0.000	T
MUC6	4588	genome.wustl.edu	37	11	1025239	1025239	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:1025239C>T	ENST00000421673.2	-	23	2978	c.2928G>A	c.(2926-2928)ctG>ctA	p.L976L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	976	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGATGAGCGTCAGGTTGTACC	0.657																																						dbGAP											0													100.0	112.0	108.0					11																	1025239		2153	4247	6400	-	-	-	SO:0001819	synonymous_variant	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.2928G>A	11.37:g.1025239C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.L976	ENST00000421673.2	37	c.2928	CCDS44513.1	11																																																																																			MUC6	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000184956		0.657	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	25	0.00	0	C	XM_290540		1025239	1025239	-1	no_errors	ENST00000421673	ensembl	human	known	69_37n	silent	42	12.50	6	SNP	0.997	T
MX1	4599	genome.wustl.edu	37	21	42812922	42812922	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr21:42812922G>T	ENST00000398600.2	+	11	1725	c.700G>T	c.(700-702)Gag>Tag	p.E234*	AP001610.5_ENST00000411427.1_RNA|MX1_ENST00000288383.6_Nonsense_Mutation_p.E211*|MX1_ENST00000398598.3_Nonsense_Mutation_p.E234*|MX1_ENST00000455164.2_Nonsense_Mutation_p.E234*	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	234	Dynamin-type G.|GTPase domain (Globular).				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CATGGCCCAGGAGGTGGACCC	0.612																																						dbGAP											0													76.0	74.0	74.0					21																	42812922		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.700G>T	21.37:g.42812922G>T	ENSP00000381601:p.Glu234*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Nonsense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,smart_Dynamin_GTPase,smart_GED,prints_Dynamin	p.E234*	ENST00000398600.2	37	c.700	CCDS13673.1	21	.	.	.	.	.	.	.	.	.	.	G	40	8.150956	0.98678	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	.	.	.	4.65	3.76	0.43208	.	0.157184	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-43.3841	12.6406	0.56707	0.0837:0.0:0.9162:0.0	.	.	.	.	X	234;234;234;211	.	ENSP00000288383:E211X	E	+	1	0	MX1	41734792	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.645000	0.46621	1.252000	0.44001	0.650000	0.86243	GAG	MX1	-	pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin	ENSG00000157601		0.612	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MX1	HGNC	protein_coding	OTTHUMT00000195161.2	23	0.00	0	G			42812922	42812922	+1	no_errors	ENST00000398598	ensembl	human	known	69_37n	nonsense	30	14.29	5	SNP	1.000	T
MYBPC3	4607	genome.wustl.edu	37	11	47365084	47365084	+	Silent	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:47365084G>C	ENST00000545968.1	-	13	1236	c.1182C>G	c.(1180-1182)gtC>gtG	p.V394V	MYBPC3_ENST00000256993.4_Silent_p.V394V|MYBPC3_ENST00000399249.2_Silent_p.V394V	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	394	Ig-like C2-type 2.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TGAGCCATTTGACCTCAGCGT	0.632																																						dbGAP											0													56.0	54.0	55.0					11																	47365084		1996	4162	6158	-	-	-	SO:0001819	synonymous_variant	0			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1182C>G	11.37:g.47365084G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V394	ENST00000545968.1	37	c.1182	CCDS53621.1	11																																																																																			MYBPC3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000134571		0.632	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	HGNC	protein_coding	OTTHUMT00000392271.3	45	0.00	0	G			47365084	47365084	-1	no_errors	ENST00000399249	ensembl	human	known	69_37n	silent	49	15.52	9	SNP	1.000	C
MYO5C	55930	genome.wustl.edu	37	15	52556402	52556402	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr15:52556402C>T	ENST00000261839.7	-	9	1193	c.1032G>A	c.(1030-1032)gaG>gaA	p.E344E	MYO5C_ENST00000541028.1_5'UTR|MYO5C_ENST00000443683.2_Silent_p.E287E	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	344	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CTGAGGACCTCTCGTTGCCCA	0.463																																						dbGAP											0													86.0	85.0	85.0					15																	52556402		1973	4156	6129	-	-	-	SO:0001819	synonymous_variant	0			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.1032G>A	15.37:g.52556402C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1W8	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E344	ENST00000261839.7	37	c.1032	CCDS42036.1	15	.	.	.	.	.	.	.	.	.	.	C	0.509	-0.867491	0.02590	.	.	ENSG00000128833	ENST00000541028	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	T	0.43942	0.1270	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46582	-0.9181	7	0.59425	D	0.04	.	5.3302	0.15928	0.1974:0.6801:0.0:0.1226	.	244	F5H231	.	K	244	.	ENSP00000445574:R244K	R	-	2	0	MYO5C	50343694	0.996000	0.38824	1.000000	0.80357	0.158000	0.22134	0.542000	0.23222	2.447000	0.82792	0.655000	0.94253	AGA	MYO5C	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000128833		0.463	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	HGNC	protein_coding	OTTHUMT00000419562.1	35	0.00	0	C	NM_018728		52556402	52556402	-1	no_errors	ENST00000261839	ensembl	human	known	69_37n	silent	30	16.67	6	SNP	1.000	T
MYO9B	4650	genome.wustl.edu	37	19	17212891	17212891	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:17212891C>G	ENST00000594824.1	+	2	511	c.364C>G	c.(364-366)Cat>Gat	p.H122D	CTD-2528A14.5_ENST00000597045.1_RNA|MYO9B_ENST00000397274.2_Missense_Mutation_p.H122D|MYO9B_ENST00000595618.1_Missense_Mutation_p.H122D			Q13459	MYO9B_HUMAN	myosin IXB	122					actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CAAGTACGTGCATATGCAGCT	0.642																																						dbGAP											0													32.0	34.0	33.0					19																	17212891		2045	4195	6240	-	-	-	SO:0001583	missense	0				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.364C>G	19.37:g.17212891C>G	ENSP00000471367:p.His122Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.H122D	ENST00000594824.1	37	c.364		19	.	.	.	.	.	.	.	.	.	.	C	3.118	-0.181221	0.06380	.	.	ENSG00000099331	ENST00000397274	D	0.83914	-1.78	5.39	4.32	0.51571	.	0.252040	0.28176	N	0.016305	T	0.67011	0.2848	N	0.12746	0.255	0.09310	N	0.999997	B;B;B	0.22909	0.002;0.002;0.077	B;B;B	0.23275	0.005;0.005;0.045	T	0.44877	-0.9299	10	0.06891	T	0.86	.	14.8277	0.70125	0.0:0.8552:0.1448:0.0	.	122;122;128	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	D	122	ENSP00000380444:H122D	ENSP00000380444:H122D	H	+	1	0	MYO9B	17073891	0.521000	0.26258	0.009000	0.14445	0.827000	0.46813	1.766000	0.38491	1.205000	0.43262	0.655000	0.94253	CAT	MYO9B	-	NULL	ENSG00000099331		0.642	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1	36	0.00	0	C			17212891	17212891	+1	no_errors	ENST00000397274	ensembl	human	known	69_37n	missense	41	25.45	14	SNP	0.383	G
MYSM1	114803	genome.wustl.edu	37	1	59142677	59142677	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:59142677C>T	ENST00000472487.1	-	9	1350	c.1311G>A	c.(1309-1311)ctG>ctA	p.L437L	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	437	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CACAGTTCTTCAGGCCAGGAC	0.338																																						dbGAP											0													175.0	171.0	172.0					1																	59142677		1867	4093	5960	-	-	-	SO:0001819	synonymous_variant	0			AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.1311G>A	1.37:g.59142677C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Silent	SNP	pfam_SWIRM,pfam_JAB1_Mov34_MPN_PAD1,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB1_Mov34_MPN_PAD1,pfscan_SWIRM,pfscan_Myb-like_dom	p.L437	ENST00000472487.1	37	c.1311	CCDS41343.1	1																																																																																			MYSM1	-	pfam_SWIRM,superfamily_Homeodomain-like,pfscan_SWIRM	ENSG00000162601		0.338	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYSM1	HGNC	protein_coding	OTTHUMT00000026343.2	82	0.00	0	C	XM_055481		59142677	59142677	-1	no_errors	ENST00000472487	ensembl	human	known	69_37n	silent	61	12.86	9	SNP	1.000	T
NAA16	79612	genome.wustl.edu	37	13	41946442	41946442	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr13:41946442G>C	ENST00000379406.3	+	16	2375	c.2051G>C	c.(2050-2052)aGa>aCa	p.R684T	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	684					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						ATATATTTTAGAAAAGGTAAT	0.284																																						dbGAP											0													52.0	55.0	54.0					13																	41946442		2202	4285	6487	-	-	-	SO:0001583	missense	0			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.2051G>C	13.37:g.41946442G>C	ENSP00000368716:p.Arg684Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR-1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R684T	ENST00000379406.3	37	c.2051	CCDS9379.1	13	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997348	0.74818	.	.	ENSG00000172766	ENST00000379406	T	0.72725	-0.68	5.12	5.12	0.69794	Tetratricopeptide-like helical (1);	0.071957	0.64402	D	0.000020	D	0.86070	0.5845	M	0.91140	3.18	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.88646	0.3179	10	0.87932	D	0	-14.8063	11.9682	0.53049	0.0802:0.0:0.9198:0.0	.	684	Q6N069	NAA16_HUMAN	T	684	ENSP00000368716:R684T	ENSP00000368716:R684T	R	+	2	0	NAA16	40844442	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.377000	0.79668	2.364000	0.80123	0.655000	0.94253	AGA	NAA16	-	smart_TPR_repeat,pirsf_NatA_aux_su	ENSG00000172766		0.284	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA16	HGNC	protein_coding	OTTHUMT00000044672.2	37	0.00	0	G	NM_018527		41946442	41946442	+1	no_errors	ENST00000379406	ensembl	human	known	69_37n	missense	31	24.39	10	SNP	1.000	C
NAA25	80018	genome.wustl.edu	37	12	112492334	112492334	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:112492334C>T	ENST00000261745.4	-	14	1734	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	496						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AATCCCTCTTCCAGCAAAGTC	0.448																																						dbGAP											0													99.0	82.0	88.0					12																	112492334		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1486G>A	12.37:g.112492334C>T	ENSP00000261745:p.Glu496Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.E496K	ENST00000261745.4	37	c.1486	CCDS9159.1	12	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971372	0.92919	.	.	ENSG00000111300	ENST00000261745	T	0.56941	0.43	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);	0.111824	0.64402	D	0.000011	T	0.66944	0.2841	M	0.81942	2.565	0.58432	D	0.99999	P;P	0.46859	0.885;0.885	P;P	0.48770	0.589;0.589	T	0.72134	-0.4382	10	0.66056	D	0.02	-15.845	19.3927	0.94590	0.0:1.0:0.0:0.0	.	496;496	A8K8X0;Q14CX7	.;NAA25_HUMAN	K	496	ENSP00000261745:E496K	ENSP00000261745:E496K	E	-	1	0	NAA25	110976717	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.625000	0.61262	2.578000	0.87016	0.655000	0.94253	GAA	NAA25	-	pfam_N-acetylTrfase_B_cplx_non-cat	ENSG00000111300		0.448	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	38	0.00	0	C	NM_024953		112492334	112492334	-1	no_errors	ENST00000261745	ensembl	human	known	69_37n	missense	24	20.00	6	SNP	1.000	T
NAA25	80018	genome.wustl.edu	37	12	112492344	112492344	+	Silent	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:112492344C>G	ENST00000261745.4	-	14	1724	c.1476G>C	c.(1474-1476)ctG>ctC	p.L492L		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	492						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CCAGCAAAGTCAGGGCCTGCC	0.438																																						dbGAP											0													91.0	76.0	81.0					12																	112492344		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1476G>C	12.37:g.112492344C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.L492	ENST00000261745.4	37	c.1476	CCDS9159.1	12																																																																																			NAA25	-	pfam_N-acetylTrfase_B_cplx_non-cat	ENSG00000111300		0.438	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	38	0.00	0	C	NM_024953		112492344	112492344	-1	no_errors	ENST00000261745	ensembl	human	known	69_37n	silent	24	17.24	5	SNP	1.000	G
NAALADL2	254827	genome.wustl.edu	37	3	174581815	174581815	+	Intron	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:174581815C>G	ENST00000454872.1	+	1	171				NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2							integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CTCATAATCTCAAAACAAAAT	0.378																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.43+4575C>G	3.37:g.174581815C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	RNA	SNP	-	NULL	ENST00000454872.1	37	NULL	CCDS46960.1	3																																																																																			NAALADL2	-	-	ENSG00000177694		0.378	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2	21	0.00	0	C	NM_207015		174581815	174581815	+1	no_errors	ENST00000473253	ensembl	human	known	69_37n	rna	20	31.03	9	SNP	0.000	G
NAB2	4665	genome.wustl.edu	37	12	57485732	57485732	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:57485732G>C	ENST00000300131.3	+	2	1286	c.908G>C	c.(907-909)gGc>gCc	p.G303A	NAB2_ENST00000342556.6_Missense_Mutation_p.G303A|NAB2_ENST00000357680.4_Missense_Mutation_p.G303A	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	303	NCD2.				cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						ATCATCTATGGCCGTTTCGAC	0.552																																						dbGAP											0													77.0	78.0	78.0					12																	57485732		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.908G>C	12.37:g.57485732G>C	ENSP00000300131:p.Gly303Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAK3|O76006|Q14797	Missense_Mutation	SNP	pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed	p.G303A	ENST00000300131.3	37	c.908	CCDS8930.1	12	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709268	0.68615	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	5.16	4.27	0.50696	NAB co-repressor, domain (1);	0.000000	0.64402	D	0.000001	T	0.70544	0.3236	L	0.59436	1.845	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.72754	-0.4198	9	0.87932	D	0	-17.5661	11.4986	0.50424	0.0884:0.0:0.9116:0.0	.	303	Q15742	NAB2_HUMAN	A	303	.	ENSP00000300131:G303A	G	+	2	0	NAB2	55771999	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	9.756000	0.98918	1.172000	0.42781	-0.258000	0.10820	GGC	NAB2	-	pfam_NAB_co-repressor_dom	ENSG00000166886		0.552	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAB2	HGNC	protein_coding	OTTHUMT00000412222.1	37	0.00	0	G	NM_005967		57485732	57485732	+1	no_errors	ENST00000300131	ensembl	human	known	69_37n	missense	46	25.81	16	SNP	1.000	C
NAB2	4665	genome.wustl.edu	37	12	57486867	57486867	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:57486867G>A	ENST00000300131.3	+	5	1543	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	NAB2_ENST00000342556.6_Missense_Mutation_p.E389K|NAB2_ENST00000357680.4_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	389					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GAGTCACCCTGAAATCCAGCA	0.612																																						dbGAP											0													106.0	115.0	112.0					12																	57486867		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.1165G>A	12.37:g.57486867G>A	ENSP00000300131:p.Glu389Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAK3|O76006|Q14797	Missense_Mutation	SNP	pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed	p.E389K	ENST00000300131.3	37	c.1165	CCDS8930.1	12	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432386	0.62844	.	.	ENSG00000166886	ENST00000300131;ENST00000342556	.	.	.	5.28	5.28	0.74379	.	0.389549	0.23405	N	0.048526	T	0.24661	0.0598	N	0.08118	0	0.80722	D	1	P	0.47409	0.895	B	0.34873	0.191	T	0.08764	-1.0706	9	0.31617	T	0.26	-12.3455	14.2745	0.66170	0.0:0.0:1.0:0.0	.	389	Q15742	NAB2_HUMAN	K	389	.	ENSP00000300131:E389K	E	+	1	0	NAB2	55773134	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.201000	0.65163	2.755000	0.94549	0.655000	0.94253	GAA	NAB2	-	NULL	ENSG00000166886		0.612	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAB2	HGNC	protein_coding	OTTHUMT00000412222.1	34	0.00	0	G	NM_005967		57486867	57486867	+1	no_errors	ENST00000300131	ensembl	human	known	69_37n	missense	46	25.81	16	SNP	0.998	A
NANOS3	342977	genome.wustl.edu	37	19	13991286	13991286	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:13991286C>T	ENST00000397555.2	+	3	491	c.491C>T	c.(490-492)tCg>tTg	p.S164L	NANOS3_ENST00000591727.1_3'UTR|NANOS3_ENST00000339133.5_Missense_Mutation_p.S183L	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	164					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S183L(1)		breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TCTGAGCCTTCGCCCTCCTGC	0.612											OREG0025300	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											93.0	98.0	97.0					19																	13991286		2051	4186	6237	-	-	-	SO:0001583	missense	0			BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000397555.2:c.491C>T	19.37:g.13991286C>T	ENSP00000380687:p.Ser164Leu	Somatic	691	WXS	Illumina GAIIx	Phase_IV	Q495E5	Missense_Mutation	SNP	pfam_Znf_nanos-typ	p.S183L	ENST00000397555.2	37	c.548		19	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556973	0.45590	.	.	ENSG00000187556	ENST00000339133;ENST00000397555	T;T	0.48522	0.81;0.83	3.74	3.74	0.42951	.	2.131500	0.02598	N	0.100727	T	0.37433	0.1003	.	.	.	0.09310	N	1	P	0.42456	0.78	B	0.31547	0.132	T	0.44892	-0.9298	9	0.72032	D	0.01	-14.3856	11.3462	0.49563	0.0:1.0:0.0:0.0	.	183	P60323-2	.	L	183;164	ENSP00000341992:S183L;ENSP00000380687:S164L	ENSP00000341992:S183L	S	+	2	0	NANOS3	13852286	0.034000	0.19679	0.018000	0.16275	0.009000	0.06853	2.680000	0.46918	2.398000	0.81561	0.561000	0.74099	TCG	NANOS3	-	NULL	ENSG00000187556		0.612	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	NANOS3	HGNC	protein_coding		38	0.00	0	C	XM_292819		13991286	13991286	+1	no_errors	ENST00000339133	ensembl	human	known	69_37n	missense	50	23.08	15	SNP	0.018	T
NCAPD3	23310	genome.wustl.edu	37	11	134048630	134048630	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:134048630G>A	ENST00000534548.2	-	22	2745	c.2681C>T	c.(2680-2682)tCa>tTa	p.S894L	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	894					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GCCTTGAGATGATGGTGCTGC	0.512																																						dbGAP											0													95.0	92.0	93.0					11																	134048630		2201	4297	6498	-	-	-	SO:0001583	missense	0			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2681C>T	11.37:g.134048630G>A	ENSP00000433681:p.Ser894Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFS2|Q4KMQ9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_Condns_HCP-6	p.S894L	ENST00000534548.2	37	c.2681	CCDS31723.1	11	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753548	0.31046	.	.	ENSG00000151503	ENST00000534548	T	0.23950	1.88	5.37	3.51	0.40186	Armadillo-like helical (1);Armadillo-type fold (1);	1.032600	0.07612	N	0.925541	T	0.27027	0.0662	L	0.58669	1.825	0.09310	N	0.999996	B	0.16166	0.016	B	0.15052	0.012	T	0.28554	-1.0040	10	0.31617	T	0.26	0.058	8.4224	0.32710	0.1442:0.2442:0.6117:0.0	.	894	P42695	CNDD3_HUMAN	L	894	ENSP00000433681:S894L	ENSP00000434168:S894L	S	-	2	0	NCAPD3	133553840	0.001000	0.12720	0.000000	0.03702	0.051000	0.14879	-0.229000	0.09098	0.656000	0.30886	0.563000	0.77884	TCA	NCAPD3	-	superfamily_ARM-type_fold,pirsf_Condns_HCP-6	ENSG00000151503		0.512	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2	41	0.00	0	G	NM_015261		134048630	134048630	-1	no_errors	ENST00000534548	ensembl	human	known	69_37n	missense	28	22.22	8	SNP	0.001	A
NCAPH	23397	genome.wustl.edu	37	2	97035233	97035233	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:97035233G>A	ENST00000240423.4	+	17	2204	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K	NCAPH_ENST00000427946.1_Missense_Mutation_p.E585K|NCAPH_ENST00000455200.1_Missense_Mutation_p.E710K	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	721					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TTTAGCCAATGAAAAGGTAGG	0.428																																						dbGAP											0													159.0	149.0	152.0					2																	97035233		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.2161G>A	2.37:g.97035233G>A	ENSP00000240423:p.Glu721Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E189|Q8TB87	Missense_Mutation	SNP	pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2	p.E721K	ENST00000240423.4	37	c.2161	CCDS2021.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.315938	0.95655	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000455200	T;T;T	0.62941	-0.01;-0.01;-0.01	5.24	5.24	0.73138	.	0.102168	0.64402	D	0.000003	T	0.81394	0.4813	M	0.84683	2.71	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84576	0.0658	10	0.87932	D	0	-24.467	16.3207	0.82950	0.0:0.0:1.0:0.0	.	697;721	B4DRG7;Q15003	.;CND2_HUMAN	K	721;585;710	ENSP00000240423:E721K;ENSP00000400774:E585K;ENSP00000407308:E710K	ENSP00000240423:E721K	E	+	1	0	NCAPH	96398960	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.723000	0.91458	2.469000	0.83416	0.655000	0.94253	GAA	NCAPH	-	pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2	ENSG00000121152		0.428	NCAPH-001	KNOWN	basic|CCDS	protein_coding	NCAPH	HGNC	protein_coding	OTTHUMT00000252842.2	61	0.00	0	G	NM_015341		97035233	97035233	+1	no_errors	ENST00000240423	ensembl	human	known	69_37n	missense	56	15.15	10	SNP	1.000	A
NCF1	653361	genome.wustl.edu	37	7	74202954	74202954	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:74202954C>T	ENST00000289473.4	+	10	1027	c.957C>T	c.(955-957)ctC>ctT	p.L319L		NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	319	Arg/Lys-rich (highly basic).				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	GGAAGCGCCTCAGCCAGGACG	0.736																																						dbGAP											0													5.0	6.0	5.0					7																	74202954		1955	3843	5798	-	-	-	SO:0001819	synonymous_variant	0			M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"""NADPH oxidase organizer 2"", ""chronic granulomatous disease, autosomal 1"""	608512	"""neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"""				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.957C>T	7.37:g.74202954C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Silent	SNP	pfam_SH3_domain,pfam_NADPH_oxidase_p47Phox_C,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,prints_P47PHOX,pfscan_Phox,pfscan_SH3_domain	p.L319	ENST00000289473.4	37	c.957	CCDS34657.1	7																																																																																			NCF1	-	superfamily_SH3_domain	ENSG00000158517		0.736	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF1	HGNC	protein_coding	OTTHUMT00000314560.1	63	0.00	0	C	NM_000265		74202954	74202954	+1	no_errors	ENST00000289473	ensembl	human	known	69_37n	silent	66	12.00	9	SNP	1.000	T
NCOA6	23054	genome.wustl.edu	37	20	33329790	33329790	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:33329790C>T	ENST00000374796.2	-	12	6840	c.4270G>A	c.(4270-4272)Gac>Aac	p.D1424N	NCOA6_ENST00000359003.2_Missense_Mutation_p.D1424N			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1424					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CAATCACTGTCCTGAGGCACA	0.463																																						dbGAP											0													92.0	84.0	87.0					20																	33329790		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.4270G>A	20.37:g.33329790C>T	ENSP00000363929:p.Asp1424Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	NULL	p.D1424N	ENST00000374796.2	37	c.4270	CCDS13241.1	20	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539571	0.65085	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.37411	1.2;1.2	5.31	5.31	0.75309	.	0.070347	0.64402	D	0.000016	T	0.31231	0.0790	N	0.19112	0.55	0.38246	D	0.941464	P	0.47409	0.895	P	0.44518	0.452	T	0.08848	-1.0702	10	0.34782	T	0.22	-10.8836	19.16	0.93527	0.0:1.0:0.0:0.0	.	1424	Q14686	NCOA6_HUMAN	N	1424	ENSP00000363929:D1424N;ENSP00000351894:D1424N	ENSP00000351894:D1424N	D	-	1	0	NCOA6	32793451	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.638000	0.61353	2.758000	0.94735	0.591000	0.81541	GAC	NCOA6	-	NULL	ENSG00000198646		0.463	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	55	0.00	0	C	NM_014071		33329790	33329790	-1	no_errors	ENST00000359003	ensembl	human	known	69_37n	missense	47	25.40	16	SNP	1.000	T
NCOA5	57727	genome.wustl.edu	37	20	44695740	44695740	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:44695740C>T	ENST00000290231.6	-	5	747	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				ACGGGCCTTTCGGCATCAAAG	0.443																																						dbGAP											0													107.0	101.0	103.0					20																	44695740		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.583G>A	20.37:g.44695740C>T	ENSP00000290231:p.Glu195Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	superfamily_Anticodon-bd	p.E195K	ENST00000290231.6	37	c.583	CCDS13392.1	20	.	.	.	.	.	.	.	.	.	.	C	34	5.310641	0.95629	.	.	ENSG00000124160	ENST00000290231;ENST00000372291	T	0.49432	0.78	5.4	5.4	0.78164	.	0.045846	0.85682	D	0.000000	T	0.64283	0.2584	M	0.66939	2.045	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.58454	0.839;0.715	T	0.65467	-0.6161	10	0.59425	D	0.04	-0.5463	18.3484	0.90329	0.0:1.0:0.0:0.0	.	195;90	Q9HCD5;Q5JY17	NCOA5_HUMAN;.	K	195;90	ENSP00000290231:E195K	ENSP00000290231:E195K	E	-	1	0	NCOA5	44129147	1.000000	0.71417	0.997000	0.53966	0.522000	0.34438	7.651000	0.83577	2.805000	0.96524	0.655000	0.94253	GAA	NCOA5	-	NULL	ENSG00000124160		0.443	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA5	HGNC	protein_coding	OTTHUMT00000079559.1	47	0.00	0	C	NM_020967		44695740	44695740	-1	no_errors	ENST00000290231	ensembl	human	known	69_37n	missense	51	15.00	9	SNP	1.000	T
NCOR1	9611	genome.wustl.edu	37	17	15965063	15965063	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:15965063C>T	ENST00000268712.3	-	37	5790	c.5533G>A	c.(5533-5535)Gaa>Aaa	p.E1845K	NCOR1_ENST00000395857.3_Missense_Mutation_p.E429K|NCOR1_ENST00000395851.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1845	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTGGCAGCTTCATGCTTACTC	0.507																																						dbGAP											0													79.0	79.0	79.0					17																	15965063		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5533G>A	17.37:g.15965063C>T	ENSP00000268712:p.Glu1845Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E1845K	ENST00000268712.3	37	c.5533	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518266	0.85495	.	.	ENSG00000141027	ENST00000268712;ENST00000395849;ENST00000395857	T;T	0.51817	0.69;0.71	5.87	5.87	0.94306	.	0.255046	0.49305	D	0.000148	T	0.45256	0.1333	L	0.40543	1.245	0.48185	D	0.999608	P;B;B;P	0.39903	0.51;0.203;0.034;0.694	B;B;B;B	0.38755	0.142;0.05;0.025;0.281	T	0.45571	-0.9252	10	0.66056	D	0.02	-6.7606	19.1914	0.93667	0.0:1.0:0.0:0.0	.	655;1749;1845;365	B4DZ48;E7EVK1;O75376;Q86YY1	.;.;NCOR1_HUMAN;.	K	1845;1749;429	ENSP00000268712:E1845K;ENSP00000379198:E429K	ENSP00000268712:E1845K	E	-	1	0	NCOR1	15905788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.496000	0.66918	2.785000	0.95823	0.650000	0.86243	GAA	NCOR1	-	NULL	ENSG00000141027		0.507	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	35	0.00	0	C	NM_006311		15965063	15965063	-1	no_errors	ENST00000268712	ensembl	human	known	69_37n	missense	23	14.81	4	SNP	1.000	T
NDST3	9348	genome.wustl.edu	37	4	119154241	119154241	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:119154241G>C	ENST00000296499.5	+	9	2297	c.1894G>C	c.(1894-1896)Gag>Cag	p.E632Q	NDST3_ENST00000433996.2_Missense_Mutation_p.E551Q	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	632	Heparan sulfate N-sulfotransferase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AAAAACCTTTGAGGAGGTACA	0.383																																						dbGAP											0													129.0	128.0	128.0					4																	119154241		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1894G>C	4.37:g.119154241G>C	ENSP00000296499:p.Glu632Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.E632Q	ENST00000296499.5	37	c.1894	CCDS3708.1	4	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023099	0.93462	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.55413	0.52;0.52	5.64	5.64	0.86602	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.75946	0.3919	M	0.80183	2.485	0.46298	D	0.998978	D;D	0.89917	0.998;1.0	D;D	0.91635	0.993;0.999	T	0.78244	-0.2279	10	0.72032	D	0.01	.	19.705	0.96069	0.0:0.0:1.0:0.0	.	551;632	B4DI67;O95803	.;NDST3_HUMAN	Q	632;551	ENSP00000296499:E632Q;ENSP00000396625:E551Q	ENSP00000296499:E632Q	E	+	1	0	NDST3	119373689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.705000	0.98719	2.645000	0.89757	0.637000	0.83480	GAG	NDST3	-	pfam_Sulfotransferase_dom	ENSG00000164100		0.383	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4	44	0.00	0	G	NM_004784		119154241	119154241	+1	no_errors	ENST00000296499	ensembl	human	known	69_37n	missense	54	12.90	8	SNP	1.000	C
NEFH	4744	genome.wustl.edu	37	22	29885286	29885286	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr22:29885286C>T	ENST00000310624.6	+	4	1690	c.1657C>T	c.(1657-1659)Cca>Tca	p.P553S		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	553	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GGCCAAGTCTCCAGCAAAGGA	0.562																																						dbGAP											0													66.0	71.0	69.0					22																	29885286		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1657C>T	22.37:g.29885286C>T	ENSP00000311997:p.Pro553Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	pfam_F,pfam_DUF1388	p.P553S	ENST00000310624.6	37	c.1657	CCDS13858.1	22	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968784	0.74131	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.84660	-1.88	5.79	5.79	0.91817	.	0.127757	0.36200	N	0.002722	D	0.88325	0.6406	L	0.27053	0.805	0.50467	D	0.999879	D	0.89917	1.0	D	0.91635	0.999	D	0.89491	0.3757	10	0.87932	D	0	.	17.8044	0.88598	0.0:1.0:0.0:0.0	.	553	P12036	NFH_HUMAN	S	553	ENSP00000311997:P553S	ENSP00000311997:P553S	P	+	1	0	NEFH	28215286	0.103000	0.21917	0.991000	0.47740	0.586000	0.36452	1.390000	0.34464	2.746000	0.94184	0.655000	0.94253	CCA	NEFH	-	NULL	ENSG00000100285		0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEFH	HGNC	protein_coding	OTTHUMT00000321553.2	26	0.00	0	C	NM_021076		29885286	29885286	+1	no_errors	ENST00000310624	ensembl	human	known	69_37n	missense	13	43.48	10	SNP	1.000	T
NEK10	152110	genome.wustl.edu	37	3	27215993	27215993	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:27215993C>T	ENST00000429845.2	-	29	3075	c.2713G>A	c.(2713-2715)Gaa>Aaa	p.E905K	NEK10_ENST00000295720.6_Missense_Mutation_p.E217K|NEK10_ENST00000383770.3_Missense_Mutation_p.E217K|NEK10_ENST00000383771.4_Missense_Mutation_p.E217K|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000357467.2_Missense_Mutation_p.E302K			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	905					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATGTCCAATTCATCATCTACC	0.363																																						dbGAP											0													110.0	111.0	111.0					3																	27215993		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2713G>A	3.37:g.27215993C>T	ENSP00000395849:p.Glu905Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	p.E217K	ENST00000429845.2	37	c.649		3	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228062	0.79576	.	.	ENSG00000163491	ENST00000295720;ENST00000383771;ENST00000383770;ENST00000357467	T;T;T;T	0.73047	2.78;2.84;3.03;-0.71	5.78	5.78	0.91487	.	.	.	.	.	T	0.77850	0.4192	.	.	.	0.34171	D	0.669757	P;D;P	0.71674	0.837;0.998;0.7	B;D;B	0.64144	0.433;0.922;0.125	T	0.75252	-0.3383	8	0.11485	T	0.65	.	18.1865	0.89795	0.0:1.0:0.0:0.0	.	217;217;302	Q6ZWH5-5;Q6ZWH5-7;Q8N774	.;.;.	K	217;217;217;302	ENSP00000295720:E217K;ENSP00000373281:E217K;ENSP00000373280:E217K;ENSP00000350059:E302K	ENSP00000295720:E217K	E	-	1	0	NEK10	27190997	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	3.355000	0.52262	2.747000	0.94245	0.650000	0.86243	GAA	NEK10	-	NULL	ENSG00000163491		0.363	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NEK10	HGNC	protein_coding	OTTHUMT00000438156.1	39	0.00	0	C	NM_152534		27215993	27215993	-1	no_errors	ENST00000383771	ensembl	human	known	69_37n	missense	33	15.38	6	SNP	1.000	T
NELL2	4753	genome.wustl.edu	37	12	45000974	45000974	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:45000974G>A	ENST00000429094.2	-	15	2145	c.1641C>T	c.(1639-1641)ttC>ttT	p.F547F	NELL2_ENST00000333837.4_Silent_p.F570F|NELL2_ENST00000395487.2_Silent_p.F546F|NELL2_ENST00000437801.2_Silent_p.F597F|NELL2_ENST00000551601.1_Silent_p.F546F|NELL2_ENST00000549027.1_Silent_p.F546F|NELL2_ENST00000452445.2_Silent_p.F547F	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	547	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGGGTCCAGTGAAGCCTTGTG	0.378																																						dbGAP											0													82.0	79.0	80.0					12																	45000974		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1641C>T	12.37:g.45000974G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_VWF_C	p.F597	ENST00000429094.2	37	c.1791	CCDS8746.1	12																																																																																			NELL2	-	smart_EGF-like,pfscan_EG-like_dom	ENSG00000184613		0.378	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	43	0.00	0	G	NM_006159		45000974	45000974	-1	no_errors	ENST00000437801	ensembl	human	known	69_37n	silent	32	21.95	9	SNP	1.000	A
NEU3	10825	genome.wustl.edu	37	11	74717362	74717362	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:74717362C>T	ENST00000544263.1	+	4	1282	c.1112C>T	c.(1111-1113)tCt>tTt	p.S371F	NEU3_ENST00000545272.1_Missense_Mutation_p.S295F|NEU3_ENST00000531509.1_Missense_Mutation_p.S404F|NEU3_ENST00000529024.1_Intron|NEU3_ENST00000294064.4_Missense_Mutation_p.S404F|NEU3_ENST00000532963.1_3'UTR			Q9UQ49	NEUR3_HUMAN	sialidase 3 (membrane sialidase)	371					carbohydrate metabolic process (GO:0005975)|ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-sialidase activity (GO:0016997)|exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						TGTGGCTACTCTGATCTGGCT	0.557																																						dbGAP											0													71.0	81.0	78.0					11																	74717362		2125	4229	6354	-	-	-	SO:0001583	missense	0			AB008185	CCDS44682.1	11q13.5	2008-02-05				ENSG00000162139			7760	protein-coding gene	gene with protein product		604617				10405317	Standard	NM_006656		Approved		uc001ovw.3	Q9UQ49		ENST00000544263.1:c.1112C>T	11.37:g.74717362C>T	ENSP00000445591:p.Ser371Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K327|Q9NQE1	Missense_Mutation	SNP	superfamily_Neuraminidase	p.S404F	ENST00000544263.1	37	c.1211		11	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522326	0.85600	.	.	ENSG00000162139	ENST00000294064;ENST00000531509;ENST00000544263;ENST00000545272	D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65	5.35	5.35	0.76521	Neuraminidase (2);	0.000000	0.85682	D	0.000000	D	0.96284	0.8788	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96771	0.9568	10	0.87932	D	0	-21.2527	16.5979	0.84801	0.0:1.0:0.0:0.0	.	371;404	Q9UQ49;A8K327	NEUR3_HUMAN;.	F	404;404;371;295	ENSP00000294064:S404F;ENSP00000432097:S404F;ENSP00000445591:S371F;ENSP00000439908:S295F	ENSP00000294064:S404F	S	+	2	0	NEU3	74395010	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.897000	0.69831	2.785000	0.95823	0.591000	0.81541	TCT	NEU3	-	superfamily_Neuraminidase	ENSG00000162139		0.557	NEU3-201	KNOWN	basic|appris_candidate	protein_coding	NEU3	HGNC	protein_coding		69	0.00	0	C	NM_006656		74717362	74717362	+1	no_errors	ENST00000294064	ensembl	human	known	69_37n	missense	93	14.68	16	SNP	1.000	T
NINL	22981	genome.wustl.edu	37	20	25448084	25448084	+	Missense_Mutation	SNP	C	C	T	rs35479032	byFrequency	TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:25448084C>T	ENST00000278886.6	-	19	3437	c.3364G>A	c.(3364-3366)Gag>Aag	p.E1122K	NINL_ENST00000422516.1_Missense_Mutation_p.E773K	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1122					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.E1122Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTTAAAACCTCAATTTCCTTC	0.498																																						dbGAP											1	Substitution - Missense(1)	lung(1)											174.0	141.0	152.0					20																	25448084		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3364G>A	20.37:g.25448084C>T	ENSP00000278886:p.Glu1122Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E1122K	ENST00000278886.6	37	c.3364	CCDS33452.1	20	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654780	0.47467	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.36878	3.38;1.23	4.94	3.97	0.46021	.	0.304761	0.29273	N	0.012631	T	0.40619	0.1124	L	0.58101	1.795	0.09310	N	1	P;B	0.48162	0.906;0.181	P;B	0.49192	0.602;0.024	T	0.20505	-1.0273	10	0.25106	T	0.35	-14.8872	11.2922	0.49256	0.0:0.8161:0.1839:0.0	.	773;1122	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	K	1122;773	ENSP00000278886:E1122K;ENSP00000410431:E773K	ENSP00000278886:E1122K	E	-	1	0	NINL	25396084	0.071000	0.21146	0.005000	0.12908	0.973000	0.67179	1.803000	0.38863	1.395000	0.46643	0.591000	0.81541	GAG	NINL	-	NULL	ENSG00000101004		0.498	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	37	0.00	0	C	NM_025176		25448084	25448084	-1	no_errors	ENST00000278886	ensembl	human	known	69_37n	missense	50	10.71	6	SNP	0.010	T
NFATC2	4773	genome.wustl.edu	37	20	50140431	50140431	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:50140431G>C	ENST00000396009.3	-	2	568	c.349C>G	c.(349-351)Ccg>Gcg	p.P117A	NFATC2_ENST00000609943.1_Missense_Mutation_p.P97A|NFATC2_ENST00000371564.3_Missense_Mutation_p.P117A|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000414705.1_Missense_Mutation_p.P97A|NFATC2_ENST00000609507.1_Intron	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	117					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TCGTGGGACGGAGTGATCTCG	0.711																																						dbGAP											0													29.0	32.0	31.0					20																	50140431		2197	4287	6484	-	-	-	SO:0001583	missense	0			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.349C>G	20.37:g.50140431G>C	ENSP00000379330:p.Pro117Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NFAT,pfscan_RHD	p.P117A	ENST00000396009.3	37	c.349	CCDS13437.1	20	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795988	0.50208	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.77620	-1.11;-1.11;-1.11	5.7	4.76	0.60689	.	0.053770	0.85682	D	0.000000	T	0.71567	0.3355	L	0.31926	0.97	0.49051	D	0.999746	P;B;P;D	0.54207	0.651;0.451;0.651;0.965	B;B;B;P	0.47744	0.248;0.137;0.266;0.556	T	0.68217	-0.5467	10	0.23302	T	0.38	-7.6559	12.8447	0.57823	0.1365:0.0:0.8635:0.0	.	97;97;117;117	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	A	117;117;97	ENSP00000360619:P117A;ENSP00000379330:P117A;ENSP00000396471:P97A	ENSP00000360619:P117A	P	-	1	0	NFATC2	49573838	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	5.560000	0.67332	1.412000	0.46977	0.462000	0.41574	CCG	NFATC2	-	NULL	ENSG00000101096		0.711	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2	33	0.00	0	G	NM_012340		50140431	50140431	-1	no_errors	ENST00000396009	ensembl	human	known	69_37n	missense	44	12.00	6	SNP	1.000	C
NKTR	4820	genome.wustl.edu	37	3	42660574	42660574	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:42660574C>T	ENST00000232978.8	+	4	384	c.196C>T	c.(196-198)Cgt>Tgt	p.R66C	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|NKTR_ENST00000442970.1_Missense_Mutation_p.R66C	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	66	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TACGTTCCATCGTGTGGTTAA	0.333																																						dbGAP											0													144.0	159.0	153.0					3																	42660574		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.196C>T	3.37:g.42660574C>T	ENSP00000232978:p.Arg66Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	p.R66C	ENST00000232978.8	37	c.196	CCDS2702.1	3	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303306	0.81136	.	.	ENSG00000114857	ENST00000232978;ENST00000442970;ENST00000445842	T;T;T	0.65178	-0.14;-0.14;-0.14	4.8	4.8	0.61643	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);Peptidyl-prolyl cis-trans isomerase, cyclophilin-type, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89480	0.6727	H	0.99825	4.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94718	0.7898	10	0.87932	D	0	-12.2987	18.1969	0.89825	0.0:1.0:0.0:0.0	.	66;66	P30414;A8K7K2	NKTR_HUMAN;.	C	66	ENSP00000232978:R66C;ENSP00000390259:R66C;ENSP00000408660:R66C	ENSP00000232978:R66C	R	+	1	0	NKTR	42635578	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.235000	0.51328	2.378000	0.81104	0.555000	0.69702	CGT	NKTR	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	ENSG00000114857		0.333	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2	86	0.00	0	C	NM_005385		42660574	42660574	+1	no_errors	ENST00000232978	ensembl	human	known	69_37n	missense	50	35.06	27	SNP	1.000	T
NLRC5	84166	genome.wustl.edu	37	16	57095611	57095611	+	Silent	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:57095611C>G	ENST00000262510.6	+	32	4377	c.4152C>G	c.(4150-4152)ctC>ctG	p.L1384L	NLRC5_ENST00000436936.1_Silent_p.L1384L|NLRC5_ENST00000539144.1_Silent_p.L1355L|NLRC5_ENST00000308149.7_Silent_p.L1355L	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1384					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGTTCAGCCTCAGGTACCTCC	0.667																																						dbGAP											0													46.0	44.0	45.0					16																	57095611		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4152C>G	16.37:g.57095611C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Nonsense_Mutation	SNP	NULL	p.S386*	ENST00000262510.6	37	c.1157	CCDS10773.1	16	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264556	0.23136	.	.	ENSG00000140853	ENST00000538805;ENST00000399221	.	.	.	3.69	3.69	0.42338	.	.	.	.	.	T	0.61438	0.2347	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59144	-0.7509	4	.	.	.	.	11.3094	0.49356	0.0:1.0:0.0:0.0	.	.	.	.	E	1136;136	.	.	Q	+	1	0	NLRC5	55653112	1.000000	0.71417	0.999000	0.59377	0.137000	0.21094	1.595000	0.36708	2.358000	0.79984	0.435000	0.28638	CAG	NLRC5	-	NULL	ENSG00000140853		0.667	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	43	0.00	0	C	NM_032206		57095611	57095611	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000540182	ensembl	human	known	69_37n	nonsense	37	21.28	10	SNP	0.999	G
NLRP8	126205	genome.wustl.edu	37	19	56466955	56466955	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:56466955C>A	ENST00000291971.3	+	3	1602	c.1531C>A	c.(1531-1533)Cag>Aag	p.Q511K	NLRP8_ENST00000590542.1_Missense_Mutation_p.Q511K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	511	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CGTGACTTTTCAGGAATTTTT	0.463																																						dbGAP											0													203.0	195.0	198.0					19																	56466955		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1531C>A	19.37:g.56466955C>A	ENSP00000291971:p.Gln511Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7RTR4	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.Q511K	ENST00000291971.3	37	c.1531	CCDS12937.1	19	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428231	0.62844	.	.	ENSG00000179709	ENST00000291971	D	0.88664	-2.41	2.0	2.0	0.26442	.	.	.	.	.	D	0.93854	0.8034	M	0.87381	2.88	0.21579	N	0.999638	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	D	0.84070	0.0379	9	0.87932	D	0	.	7.6002	0.28071	0.0:1.0:0.0:0.0	.	511;511	Q86W28-2;Q86W28	.;NALP8_HUMAN	K	511	ENSP00000291971:Q511K	ENSP00000291971:Q511K	Q	+	1	0	NLRP8	61158767	1.000000	0.71417	0.890000	0.34922	0.354000	0.29330	4.624000	0.61254	1.448000	0.47680	0.508000	0.49915	CAG	NLRP8	-	NULL	ENSG00000179709		0.463	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	HGNC	protein_coding	OTTHUMT00000457462.1	104	0.00	0	C	NM_176811		56466955	56466955	+1	no_errors	ENST00000291971	ensembl	human	known	69_37n	missense	99	16.10	19	SNP	1.000	A
NOP16	51491	genome.wustl.edu	37	5	175813933	175813933	+	Intron	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:175813933G>A	ENST00000389158.5	-	3	652				NOP16_ENST00000510123.1_Intron|NOP16_ENST00000507413.1_Intron|NOP16_ENST00000509257.1_Intron|HIGD2A_ENST00000274787.2_5'Flank			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein							intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						GAGCCCTTGAGACCAGAAGGA	0.498																																						dbGAP											0													82.0	81.0	81.0					5																	175813933		1945	4140	6085	-	-	-	SO:0001627	intron_variant	0				CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"""hypothetical protein HSPC111"", ""HBV pre-S2 trans-regulated protein 3"""	612861	"""nucleolar protein 16 homolog (yeast)"", ""NOP16 nucleolar protein homolog (yeast)"""			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.217-23C>T	5.37:g.175813933G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Silent	SNP	pfam_Ribosome_biogenesis_Nop16	p.V76	ENST00000389158.5	37	c.228	CCDS43403.1	5																																																																																			NOP16	-	NULL	ENSG00000048162		0.498	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP16	HGNC	protein_coding	OTTHUMT00000371963.1	49	0.00	0	G	NM_016391		175813933	175813933	-1	no_errors	ENST00000502663	ensembl	human	known	69_37n	silent	54	10.00	6	SNP	0.309	A
NOS1	4842	genome.wustl.edu	37	12	117718580	117718580	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:117718580G>T	ENST00000338101.4	-	7	1478	c.1474C>A	c.(1474-1476)Cag>Aag	p.Q492K	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.Q492K			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CCGTCAGGCTGCTTGTAGCCA	0.617																																					Esophageal Squamous(162;1748 2599 51982 52956)	dbGAP											0													48.0	60.0	56.0					12																	117718580		2088	4240	6328	-	-	-	SO:0001583	missense	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1474C>A	12.37:g.117718580G>T	ENSP00000337459:p.Gln492Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.Q492K	ENST00000338101.4	37	c.1474	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953136	0.73902	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.21361	2.01;2.01	5.14	5.14	0.70334	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	M	0.88704	2.975	0.80722	D	1	B	0.28636	0.218	B	0.35114	0.196	T	0.40515	-0.9559	10	0.46703	T	0.11	-24.212	18.7976	0.92001	0.0:0.0:1.0:0.0	.	492	P29475	NOS1_HUMAN	K	492	ENSP00000320758:Q492K;ENSP00000337459:Q492K	ENSP00000320758:Q492K	Q	-	1	0	NOS1	116202963	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.381000	0.73163	2.653000	0.90120	0.563000	0.77884	CAG	NOS1	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met	ENSG00000089250		0.617	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	62	0.00	0	G			117718580	117718580	-1	no_errors	ENST00000317775	ensembl	human	known	69_37n	missense	86	10.42	10	SNP	1.000	T
NPC1L1	29881	genome.wustl.edu	37	7	44573386	44573386	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:44573386G>A	ENST00000289547.4	-	7	2288	c.2233C>T	c.(2233-2235)Ccc>Tcc	p.P745S	NPC1L1_ENST00000381160.3_Missense_Mutation_p.P745S|NPC1L1_ENST00000546276.1_Missense_Mutation_p.P745S|NPC1L1_ENST00000423141.1_Intron	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	745	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGCATGCTGGGAGCCACCCTG	0.637																																						dbGAP											0													43.0	42.0	43.0					7																	44573386		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2233C>T	7.37:g.44573386G>A	ENSP00000289547:p.Pro745Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.P745S	ENST00000289547.4	37	c.2233	CCDS5491.1	7	.	.	.	.	.	.	.	.	.	.	g	25.5	4.644133	0.87859	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.95980	-3.87;-3.87;-3.87	4.33	4.33	0.51752	.	0.118064	0.64402	D	0.000020	D	0.98055	0.9359	M	0.92459	3.31	0.58432	D	0.999999	P;D;D	0.89917	0.921;0.997;1.0	D;D;D	0.87578	0.952;0.984;0.998	D	0.98574	1.0647	10	0.56958	D	0.05	-43.074	14.338	0.66606	0.0:0.0:1.0:0.0	.	745;745;745	B7ZLE6;Q17RV5;D3DVK9	.;.;.	S	745	ENSP00000289547:P745S;ENSP00000370552:P745S;ENSP00000438033:P745S	ENSP00000289547:P745S	P	-	1	0	NPC1L1	44539911	1.000000	0.71417	0.991000	0.47740	0.981000	0.71138	8.530000	0.90606	2.232000	0.73038	0.561000	0.74099	CCC	NPC1L1	-	pfam_Patched,pfscan_SSD	ENSG00000015520		0.637	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	HGNC	protein_coding	OTTHUMT00000251256.1	28	0.00	0	G	NM_013389		44573386	44573386	-1	no_errors	ENST00000289547	ensembl	human	known	69_37n	missense	28	22.22	8	SNP	1.000	A
NPR2	4882	genome.wustl.edu	37	9	35800478	35800478	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:35800478C>G	ENST00000342694.2	+	5	1471	c.1216C>G	c.(1216-1218)Cag>Gag	p.Q406E		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	406					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGGGGACTTTCAGGTGATGGA	0.517																																						dbGAP											0													115.0	103.0	107.0					9																	35800478		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.1216C>G	9.37:g.35800478C>G	ENSP00000341083:p.Gln406Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.Q406E	ENST00000342694.2	37	c.1216	CCDS6590.1	9	.	.	.	.	.	.	.	.	.	.	C	5.727	0.318690	0.10845	.	.	ENSG00000159899	ENST00000342694	T	0.72167	-0.63	5.15	5.15	0.70609	.	0.000000	0.42821	D	0.000645	T	0.47303	0.1438	N	0.08118	0	0.40915	D	0.984265	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.46105	-0.9215	10	0.08599	T	0.76	.	13.0299	0.58837	0.0:0.8381:0.1619:0.0	.	406;406	P20594-2;P20594	.;ANPRB_HUMAN	E	406	ENSP00000341083:Q406E	ENSP00000341083:Q406E	Q	+	1	0	NPR2	35790478	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.580000	0.46068	2.401000	0.81631	0.655000	0.94253	CAG	NPR2	-	NULL	ENSG00000159899		0.517	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR2	HGNC	protein_coding	OTTHUMT00000052345.1	33	0.00	0	C			35800478	35800478	+1	no_errors	ENST00000342694	ensembl	human	known	69_37n	missense	26	23.53	8	SNP	1.000	G
NR1I2	8856	genome.wustl.edu	37	3	119535970	119535970	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:119535970C>T	ENST00000337940.4	+	9	1381	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*	NR1I2_ENST00000393716.2_Nonsense_Mutation_p.Q406*|NR1I2_ENST00000466380.1_Nonsense_Mutation_p.Q369*	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	406					drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|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)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	CATCAATGCTCAGCACACCCA	0.587																																						dbGAP											0													89.0	84.0	86.0					3																	119535970		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.1333C>T	3.37:g.119535970C>T	ENSP00000336528:p.Gln445*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Nonsense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.Q445*	ENST00000337940.4	37	c.1333	CCDS2995.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.288554	0.95517	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	.	.	.	4.68	2.83	0.33086	.	0.229090	0.17293	U	0.179570	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	8.0171	0.30387	0.1726:0.4931:0.3344:0.0	.	.	.	.	X	406;369;445	.	ENSP00000336528:Q445X	Q	+	1	0	NR1I2	121018660	0.989000	0.36119	0.988000	0.46212	0.907000	0.53573	0.994000	0.29693	0.544000	0.28883	0.591000	0.81541	CAG	NR1I2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Str_hrmn_rcpt	ENSG00000144852		0.587	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1I2	HGNC	protein_coding	OTTHUMT00000355126.1	40	0.00	0	C			119535970	119535970	+1	no_errors	ENST00000337940	ensembl	human	known	69_37n	nonsense	33	21.43	9	SNP	0.998	T
NRG1	3084	genome.wustl.edu	37	8	32621719	32621719	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:32621719G>A	ENST00000405005.3	+	12	1722	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E	NRG1_ENST00000519301.1_Silent_p.E524E|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000356819.4_Silent_p.E579E|NRG1_ENST00000539990.1_Silent_p.E417E|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000338921.4_Silent_p.E582E|NRG1_ENST00000287842.3_Silent_p.E571E|NRG1_ENST00000287845.5_Silent_p.E545E			Q02297	NRG1_HUMAN	neuregulin 1	574					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GTAACTCAGAGAGTGAAACAG	0.537																																						dbGAP											0													91.0	88.0	89.0					8																	32621719		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1722G>A	8.37:g.32621719G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EGF-like,pfscan_EG-like_dom,pfscan_Ig-like,prints_Neuregulin	p.E582	ENST00000405005.3	37	c.1746	CCDS6085.1	8																																																																																			NRG1	-	pfam_Neuregulin_1_C	ENSG00000157168		0.537	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1	32	0.00	0	G			32621719	32621719	+1	no_errors	ENST00000338921	ensembl	human	known	69_37n	silent	18	21.74	5	SNP	1.000	A
NRK	203447	genome.wustl.edu	37	X	105144612	105144612	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:105144612G>A	ENST00000243300.9	+	9	1016	c.713G>A	c.(712-714)aGt>aAt	p.S238N	NRK_ENST00000428173.2_Splice_Site_p.S238N	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	238	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TCTTTGCAGAGTGATGTGTGG	0.368										HNSCC(51;0.14)																												dbGAP											0													118.0	98.0	104.0					X																	105144612		1865	4105	5970	-	-	-	SO:0001630	splice_region_variant	0			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.712-1G>A	X.37:g.105144612G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.S238N	ENST00000243300.9	37	c.713		X	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430852	0.83776	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.28895	1.59;1.59	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000170	T	0.56992	0.2023	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61103	-0.7130	10	0.87932	D	0	.	15.8392	0.78831	0.0:0.0:1.0:0.0	.	238	Q7Z2Y5	NRK_HUMAN	N	238	ENSP00000434830:S238N;ENSP00000438378:S238N	ENSP00000434830:S238N	S	+	2	0	NRK	105031268	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.397000	0.97276	2.338000	0.79540	0.594000	0.82650	AGT	NRK	-	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	ENSG00000123572		0.368	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	79	0.00	0	G	NM_198465	Missense_Mutation	105144612	105144612	+1	no_errors	ENST00000428173	ensembl	human	known	69_37n	missense	56	11.11	7	SNP	1.000	A
NRXN1	9378	genome.wustl.edu	37	2	51254725	51254725	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:51254725G>A	ENST00000406316.2	-	2	2163	c.687C>T	c.(685-687)ctC>ctT	p.L229L	NRXN1_ENST00000405472.3_Silent_p.L229L|NRXN1_ENST00000401669.2_Silent_p.L229L|NRXN1_ENST00000405581.1_Silent_p.L229L|NRXN1_ENST00000406859.3_Silent_p.L229L|NRXN1_ENST00000402717.3_Silent_p.L229L|NRXN1_ENST00000404971.1_Silent_p.L229L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	229	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CACCTCCGTTGAGGCACACCC	0.716																																						dbGAP											0													15.0	20.0	18.0					2																	51254725		2131	4216	6347	-	-	-	SO:0001819	synonymous_variant	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.687C>T	2.37:g.51254725G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.L229	ENST00000406316.2	37	c.687	CCDS54360.1	2																																																																																			NRXN1	-	smart_EGF-like,pfscan_EG-like_dom	ENSG00000179915		0.716	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	8	0.00	0	G			51254725	51254725	-1	no_errors	ENST00000402717	ensembl	human	known	69_37n	silent	3	62.50	5	SNP	1.000	A
NSMAF	8439	genome.wustl.edu	37	8	59500239	59500239	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:59500239C>G	ENST00000038176.3	-	27	2445	c.2233G>C	c.(2233-2235)Gag>Cag	p.E745Q	NSMAF_ENST00000427130.2_Missense_Mutation_p.E776Q	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	745					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.E776*(1)|p.E745*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CCTGGCATCTCTGCAGGAACA	0.428																																						dbGAP											2	Substitution - Nonsense(2)	endometrium(2)											100.0	87.0	91.0					8																	59500239		2203	4300	6503	-	-	-	SO:0001583	missense	0			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.2233G>C	8.37:g.59500239C>G	ENSP00000038176:p.Glu745Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E776Q	ENST00000038176.3	37	c.2326	CCDS6173.1	8	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111668	0.56398	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.56611	0.46;0.45	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.264771	0.44688	D	0.000434	T	0.56688	0.2002	L	0.56769	1.78	0.42677	D	0.99353	P;B	0.35923	0.528;0.357	B;B	0.39771	0.309;0.094	T	0.51301	-0.8723	9	.	.	.	.	20.4239	0.99064	0.0:1.0:0.0:0.0	.	776;745	Q92636-2;Q92636	.;FAN_HUMAN	Q	745;776	ENSP00000038176:E745Q;ENSP00000411012:E776Q	.	E	-	1	0	NSMAF	59662793	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	3.770000	0.55310	2.828000	0.97474	0.655000	0.94253	GAG	NSMAF	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000035681		0.428	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMAF	HGNC	protein_coding	OTTHUMT00000378384.1	32	0.00	0	C	NM_003580		59500239	59500239	-1	no_errors	ENST00000427130	ensembl	human	known	69_37n	missense	28	28.21	11	SNP	1.000	G
NSUN4	387338	genome.wustl.edu	37	1	46807666	46807666	+	Intron	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:46807666C>T	ENST00000474844.1	+	1	743				NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Intron|NSUN4_ENST00000537428.1_Intron	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4						rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					GACCTCCCCTCAGCTCACTCA	0.572											OREG0013457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.93+1075C>T	1.37:g.46807666C>T		Somatic	942	WXS	Illumina GAIIx	Phase_IV	A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	RNA	SNP	-	NULL	ENST00000474844.1	37	NULL	CCDS534.1	1																																																																																			NSUN4	-	-	ENSG00000117481		0.572	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN4	HGNC	protein_coding	OTTHUMT00000021427.1	59	0.00	0	C	NM_199044		46807666	46807666	+1	no_errors	ENST00000498008	ensembl	human	known	69_37n	rna	34	12.82	5	SNP	0.002	T
NSUN4	387338	genome.wustl.edu	37	1	46808426	46808426	+	Intron	SNP	C	C	T	rs41293285	byFrequency	TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:46808426C>T	ENST00000474844.1	+	1	743				NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Intron|NSUN4_ENST00000537428.1_Intron	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4						rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					TCCCCCCAACCGAAGTCCCCT	0.552													C|||	660	0.131789	0.1331	0.147	5008	,	,		15704	0.0179		0.2724	False		,,,				2504	0.092					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.93+1835C>T	1.37:g.46808426C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	RNA	SNP	-	NULL	ENST00000474844.1	37	NULL	CCDS534.1	1																																																																																			NSUN4	-	-	ENSG00000117481		0.552	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN4	HGNC	protein_coding	OTTHUMT00000021427.1	42	0.00	0	C	NM_199044		46808426	46808426	+1	no_errors	ENST00000498008	ensembl	human	known	69_37n	rna	45	10.00	5	SNP	0.000	T
NTNG2	84628	genome.wustl.edu	37	9	135106788	135106788	+	Intron	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:135106788G>A	ENST00000393229.3	+	5	1830				NTNG2_ENST00000372179.3_Silent_p.E387E|NTNG2_ENST00000360670.3_Intron|NTNG2_ENST00000393228.4_Intron	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2						axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		AAATCTCAGAGATGCTTCTGG	0.657																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1054+806G>A	9.37:g.135106788G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_N	p.E387	ENST00000393229.3	37	c.1161	CCDS6946.1	9																																																																																			NTNG2	-	NULL	ENSG00000196358		0.657	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NTNG2	HGNC	protein_coding	OTTHUMT00000054779.1	60	0.00	0	G	NM_032536		135106788	135106788	+1	no_errors	ENST00000372179	ensembl	human	known	69_37n	silent	60	11.59	8	SNP	0.000	A
NUP54	53371	genome.wustl.edu	37	4	77069334	77069334	+	Intron	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:77069334C>G	ENST00000264883.3	-	1	208				NUP54_ENST00000514987.1_Intron|NUP54_ENST00000342467.6_Intron|NUP54_ENST00000515460.1_Intron|NUP54_ENST00000458189.2_Intron	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						CCGCCCTTTTCCAATGCCTCT	0.677																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"""nucleoporin 54kD"""			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.67+126G>C	4.37:g.77069334C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	RNA	SNP	-	NULL	ENST00000264883.3	37	NULL	CCDS3576.1	4																																																																																			NUP54	-	-	ENSG00000138750		0.677	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP54	HGNC	protein_coding	OTTHUMT00000252402.3	25	0.00	0	C			77069334	77069334	-1	no_errors	ENST00000510884	ensembl	human	known	69_37n	rna	21	22.22	6	SNP	0.001	G
NXF4	55999	genome.wustl.edu	37	X	101821105	101821105	+	RNA	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:101821105G>C	ENST00000360035.2	+	0	1305					NR_002216.1				nuclear RNA export factor 4 pseudogene											endometrium(2)|lung(8)	10						GGATGGCCAGGAGTTAGCATC	0.468																																						dbGAP											0																																										-	-	-			0			AK124700		Xq22	2005-01-24			ENSG00000196970	ENSG00000196970			8074	pseudogene	pseudogene		300318	"""nuclear RNA export factor 4"""			11566096	Standard	NR_002216		Approved		uc004ejf.1		OTTHUMG00000039695		X.37:g.101821105G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000360035.2	37	NULL		X																																																																																			NXF4	-	-	ENSG00000196970		0.468	NXF4-001	KNOWN	basic	processed_transcript	NXF4	HGNC	pseudogene	OTTHUMT00000095720.1	42	0.00	0	G			101821105	101821105	+1	no_errors	ENST00000360035	ensembl	human	known	69_37n	rna	32	21.95	9	SNP	0.859	C
OR10H4	126541	genome.wustl.edu	37	19	16060034	16060034	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:16060034C>T	ENST00000322107.1	+	1	217	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CTCTGAGATTCTGTTCACTGT	0.507																																						dbGAP											0													443.0	406.0	418.0					19																	16060034		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.217C>T	19.37:g.16060034C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFJ2|Q96R57	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L73	ENST00000322107.1	37	c.217	CCDS32941.1	19																																																																																			OR10H4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000176231		0.507	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H4	HGNC	protein_coding	OTTHUMT00000460311.1	127	0.00	0	C			16060034	16060034	+1	no_errors	ENST00000322107	ensembl	human	known	69_37n	silent	176	12.00	24	SNP	0.110	T
OR10J5	127385	genome.wustl.edu	37	1	159505112	159505112	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:159505112G>C	ENST00000334857.2	-	1	730	c.686C>G	c.(685-687)tCa>tGa	p.S229*		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GCCCTCAGCTGAGGCAATTTG	0.463																																						dbGAP											0													76.0	75.0	75.0					1																	159505112		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.686C>G	1.37:g.159505112G>C	ENSP00000334441:p.Ser229*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH35|Q6IFH2	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S229*	ENST00000334857.2	37	c.686	CCDS30910.1	1	.	.	.	.	.	.	.	.	.	.	G	8.681	0.905233	0.17760	.	.	ENSG00000184155	ENST00000334857	.	.	.	3.96	2.0	0.26442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.3952	0.21609	0.1017:0.0:0.7171:0.1812	.	.	.	.	X	229	.	ENSP00000334441:S229X	S	-	2	0	OR10J5	157771736	0.008000	0.16893	0.000000	0.03702	0.009000	0.06853	1.666000	0.37460	0.396000	0.25283	-0.373000	0.07131	TCA	OR10J5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000184155		0.463	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J5	HGNC	protein_coding	OTTHUMT00000059021.1	31	0.00	0	G	NM_001004469		159505112	159505112	-1	no_errors	ENST00000334857	ensembl	human	known	69_37n	nonsense	43	10.42	5	SNP	0.000	C
OR10W1	81341	genome.wustl.edu	37	11	58034944	58034944	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:58034944C>A	ENST00000395079.2	-	1	788	c.387G>T	c.(385-387)ttG>ttT	p.L129F		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CACAAAGAGTCAATGTCATGA	0.532																																						dbGAP											0													125.0	81.0	96.0					11																	58034944		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.387G>T	11.37:g.58034944C>A	ENSP00000378516:p.Leu129Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L129F	ENST00000395079.2	37	c.387	CCDS7968.1	11	.	.	.	.	.	.	.	.	.	.	C	0.251	-1.006434	0.02112	.	.	ENSG00000172772	ENST00000395079	T	0.00416	7.51	5.81	-1.15	0.09709	GPCR, rhodopsin-like superfamily (1);	1.854750	0.03150	N	0.167868	T	0.00241	0.0007	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.43228	-0.9404	10	0.42905	T	0.14	.	10.4258	0.44378	0.0:0.7242:0.1072:0.1686	.	129	Q8NGF6	O10W1_HUMAN	F	129	ENSP00000378516:L129F	ENSP00000378516:L129F	L	-	3	2	OR10W1	57791520	0.000000	0.05858	0.000000	0.03702	0.316000	0.28119	-1.424000	0.02448	-0.521000	0.06426	0.655000	0.94253	TTG	OR10W1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000172772		0.532	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10W1	HGNC	protein_coding	OTTHUMT00000394704.1	32	0.00	0	C	NM_207374		58034944	58034944	-1	no_errors	ENST00000395079	ensembl	human	known	69_37n	missense	26	16.13	5	SNP	0.000	A
OR2G6	391211	genome.wustl.edu	37	1	248685614	248685614	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:248685614C>G	ENST00000343414.4	+	1	699	c.667C>G	c.(667-669)Caa>Gaa	p.Q223E		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q223K(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTTATCACTCAAGCTGTGTT	0.468																																						dbGAP											1	Substitution - Missense(1)	lung(1)											113.0	118.0	116.0					1																	248685614		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.667C>G	1.37:g.248685614C>G	ENSP00000341291:p.Gln223Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP33	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Q223E	ENST00000343414.4	37	c.667	CCDS31119.1	1	.	.	.	.	.	.	.	.	.	.	N	3.558	-0.090160	0.07053	.	.	ENSG00000188558	ENST00000343414	T	0.37752	1.18	3.68	0.156	0.14910	GPCR, rhodopsin-like superfamily (1);	0.546525	0.15149	U	0.277849	T	0.31575	0.0801	L	0.50333	1.59	0.09310	N	1	B	0.33448	0.412	B	0.40982	0.345	T	0.31971	-0.9924	10	0.62326	D	0.03	.	2.8878	0.05667	0.3319:0.4246:0.148:0.0955	.	223	Q5TZ20	OR2G6_HUMAN	E	223	ENSP00000341291:Q223E	ENSP00000341291:Q223E	Q	+	1	0	OR2G6	246752237	0.000000	0.05858	0.002000	0.10522	0.047000	0.14425	-3.846000	0.00352	0.160000	0.19432	0.400000	0.26472	CAA	OR2G6	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000188558		0.468	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G6	HGNC	protein_coding	OTTHUMT00000097358.1	63	0.00	0	C	XM_372842		248685614	248685614	+1	no_errors	ENST00000343414	ensembl	human	known	69_37n	missense	86	13.13	13	SNP	0.000	G
OR56A4	120793	genome.wustl.edu	37	11	6024172	6024172	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:6024172G>A	ENST00000330728.4	-	1	252	c.207C>T	c.(205-207)ctC>ctT	p.L69L		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAAGCAGATGAGGAGGAATT	0.527																																						dbGAP											0													96.0	90.0	92.0					11																	6024172		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.207C>T	11.37:g.6024172G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH17	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L69	ENST00000330728.4	37	c.207	CCDS31404.1	11																																																																																			OR56A4	-	NULL	ENSG00000183389		0.527	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56A4	HGNC	protein_coding	OTTHUMT00000383756.2	21	0.00	0	G	NM_001005179		6024172	6024172	-1	no_errors	ENST00000330728	ensembl	human	known	69_37n	silent	22	38.89	14	SNP	1.000	A
OR5C1	392391	genome.wustl.edu	37	9	125551947	125551947	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:125551947G>A	ENST00000373680.2	+	1	798	c.736G>A	c.(736-738)Ggt>Agt	p.G246S		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CTCCACCGGTGGTTCCCACCT	0.602																																						dbGAP											0													80.0	70.0	73.0					9																	125551947		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.736G>A	9.37:g.125551947G>A	ENSP00000362784:p.Gly246Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G246S	ENST00000373680.2	37	c.736	CCDS35131.1	9	.	.	.	.	.	.	.	.	.	.	G	7.657	0.684085	0.14907	.	.	ENSG00000148215	ENST00000373680	T	0.35973	1.28	5.46	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.207207	0.23977	U	0.042718	T	0.25975	0.0633	N	0.16166	0.38	0.26185	N	0.979665	B	0.12013	0.005	B	0.15870	0.014	T	0.09952	-1.0651	10	0.37606	T	0.19	.	17.5474	0.87866	0.0:0.0:0.8734:0.1266	.	246	Q8NGR4	OR5C1_HUMAN	S	246	ENSP00000362784:G246S	ENSP00000362784:G246S	G	+	1	0	OR5C1	124591768	0.000000	0.05858	0.795000	0.32087	0.000000	0.00434	0.695000	0.25527	0.876000	0.35872	-0.808000	0.03180	GGT	OR5C1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000148215		0.602	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5C1	HGNC	protein_coding	OTTHUMT00000053953.1	23	0.00	0	G			125551947	125551947	+1	no_errors	ENST00000373680	ensembl	human	known	69_37n	missense	21	34.38	11	SNP	0.971	A
OR5D16	390144	genome.wustl.edu	37	11	55606808	55606808	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:55606808C>G	ENST00000378396.1	+	1	581	c.581C>G	c.(580-582)tCt>tGt	p.S194C		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TACCCTGACTCTTATCTCAGC	0.398																																						dbGAP											0													187.0	163.0	171.0					11																	55606808		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.581C>G	11.37:g.55606808C>G	ENSP00000367649:p.Ser194Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF65|Q96RB4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S194C	ENST00000378396.1	37	c.581	CCDS31512.1	11	.	.	.	.	.	.	.	.	.	.	.	19.11	3.762946	0.69763	.	.	ENSG00000205029	ENST00000378396	T	0.00198	8.57	4.17	-0.633	0.11519	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00384	0.0012	M	0.65677	2.01	0.09310	N	1	D	0.61697	0.99	D	0.69654	0.965	T	0.50355	-0.8838	9	0.87932	D	0	-10.6624	4.9366	0.13944	0.1427:0.4859:0.0:0.3714	.	194	Q8NGK9	OR5DG_HUMAN	C	194	ENSP00000367649:S194C	ENSP00000367649:S194C	S	+	2	0	OR5D16	55363384	0.000000	0.05858	0.000000	0.03702	0.831000	0.47069	-0.947000	0.03901	-0.040000	0.13580	0.530000	0.56133	TCT	OR5D16	-	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000205029		0.398	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D16	HGNC	protein_coding	OTTHUMT00000334506.1	88	0.00	0	C	NM_001005496		55606808	55606808	+1	no_errors	ENST00000378396	ensembl	human	known	69_37n	missense	63	12.50	9	SNP	0.000	G
OR8K5	219453	genome.wustl.edu	37	11	55927282	55927282	+	Missense_Mutation	SNP	G	G	C	rs371380657		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:55927282G>C	ENST00000313447.1	-	1	511	c.512C>G	c.(511-513)tCt>tGt	p.S171C		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S171Y(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GATGACATTAGAGCCACAGAA	0.383																																						dbGAP											1	Substitution - Missense(1)	lung(1)											90.0	90.0	90.0					11																	55927282		2201	4295	6496	-	-	-	SO:0001583	missense	0			BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.512C>G	11.37:g.55927282G>C	ENSP00000323853:p.Ser171Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFB5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S171C	ENST00000313447.1	37	c.512	CCDS31521.1	11	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851890	0.32699	.	.	ENSG00000181752	ENST00000313447	T	0.39592	1.07	4.18	3.22	0.36961	GPCR, rhodopsin-like superfamily (1);	0.376065	0.23167	N	0.051175	T	0.64170	0.2574	M	0.90595	3.13	0.09310	N	1	D	0.64830	0.994	D	0.65233	0.933	T	0.56625	-0.7948	10	0.66056	D	0.02	.	7.4698	0.27342	0.0:0.159:0.5154:0.3256	.	171	Q8NH50	OR8K5_HUMAN	C	171	ENSP00000323853:S171C	ENSP00000323853:S171C	S	-	2	0	OR8K5	55683858	0.001000	0.12720	0.997000	0.53966	0.984000	0.73092	0.894000	0.28350	1.034000	0.39945	0.567000	0.79289	TCT	OR8K5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181752		0.383	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K5	HGNC	protein_coding	OTTHUMT00000391543.1	29	0.00	0	G	NM_001004058		55927282	55927282	-1	no_errors	ENST00000313447	ensembl	human	known	69_37n	missense	27	12.90	4	SNP	0.020	C
OR8D1	283159	genome.wustl.edu	37	11	124180216	124180216	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:124180216G>A	ENST00000357821.2	-	1	517	c.447C>T	c.(445-447)ttC>ttT	p.F149F		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGCCCAAGAAGAAGGCAGCCA	0.463																																						dbGAP											0													74.0	64.0	67.0					11																	124180216		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.447C>T	11.37:g.124180216G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNL4|Q6IEW1|Q8NGH0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F149	ENST00000357821.2	37	c.447	CCDS31706.1	11																																																																																			OR8D1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196341		0.463	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D1	HGNC	protein_coding	OTTHUMT00000387285.1	33	0.00	0	G	NM_001002917		124180216	124180216	-1	no_errors	ENST00000357821	ensembl	human	known	69_37n	silent	38	15.56	7	SNP	0.000	A
OSTM1	28962	genome.wustl.edu	37	6	108395499	108395499	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:108395499G>A	ENST00000193322.3	-	1	442	c.357C>T	c.(355-357)ttC>ttT	p.F119F		NM_014028.3	NP_054747.2	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	119					ion transmembrane transport (GO:0034220)|osteoclast differentiation (GO:0030316)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		CGACCTGTTGGAAGAGGGGGT	0.647																																					Melanoma(162;1427 1909 3096 17430 21396)	dbGAP											0													23.0	26.0	25.0					6																	108395499		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF533891	CCDS5062.1	6q21	2014-06-17			ENSG00000081087	ENSG00000081087			21652	protein-coding gene	gene with protein product	"""CLCN7 accessory beta subunit"""	607649				12627228, 21527911	Standard	NM_014028		Approved	HSPC019, GL	uc003psd.3	Q86WC4	OTTHUMG00000015317	ENST00000193322.3:c.357C>T	6.37:g.108395499G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5E3|Q5R391|Q6PCA7|Q7RTW6|Q8NC29|Q8TC82|Q9Y2S9	Silent	SNP	pfam_Osteopetrosis-assoc_TM_1	p.F119	ENST00000193322.3	37	c.357	CCDS5062.1	6																																																																																			OSTM1	-	pfam_Osteopetrosis-assoc_TM_1	ENSG00000081087		0.647	OSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSTM1	HGNC	protein_coding	OTTHUMT00000041709.3	12	0.00	0	G	NM_014028		108395499	108395499	-1	no_errors	ENST00000193322	ensembl	human	known	69_37n	silent	13	27.78	5	SNP	1.000	A
OTOG	340990	genome.wustl.edu	37	11	17600052	17600052	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:17600052C>T	ENST00000399391.2	+	22	2774	c.2774C>T	c.(2773-2775)tCg>tTg	p.S925L	OTOG_ENST00000399397.1_Missense_Mutation_p.S852L|OTOG_ENST00000342528.2_5'UTR	NM_001277269.1	NP_001264198.1	Q6ZRI0	OTOG_HUMAN	otogelin	925					adult locomotory behavior (GO:0008344)|L-arabinose metabolic process (GO:0046373)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	alpha-L-arabinofuranosidase activity (GO:0046556)|structural molecule activity (GO:0005198)			breast(3)|central_nervous_system(1)|lung(1)|skin(1)	6						CCCTGCCTCTCGGGCTGCGCC	0.662																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK128214	CCDS59225.1	11p14.3	2014-07-17			ENSG00000188162	ENSG00000188162			8516	protein-coding gene	gene with protein product		604487				9405633	Standard	NM_001277269		Approved	mlemp, OTGN, FLJ46346	uc031pzc.1	Q6ZRI0	OTTHUMG00000149905	ENST00000399391.2:c.2774C>T	11.37:g.17600052C>T	ENSP00000382323:p.Ser925Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTX6|A8MUJ0|B7WPC4	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom	p.S925L	ENST00000399391.2	37	c.2774	CCDS59225.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.143954	0.94603	.	.	ENSG00000188162	ENST00000399391;ENST00000399397	T;T	0.30182	1.54;1.54	5.98	5.98	0.97165	.	0.267097	0.25299	U	0.031666	T	0.57460	0.2055	M	0.80422	2.495	0.43965	D	0.996644	.	.	.	.	.	.	T	0.58451	-0.7634	8	0.62326	D	0.03	.	18.2444	0.89979	0.0:1.0:0.0:0.0	.	.	.	.	L	925;852	ENSP00000382323:S925L;ENSP00000382329:S852L	ENSP00000382323:S925L	S	+	2	0	OTOG	17556628	1.000000	0.71417	0.995000	0.50966	0.851000	0.48451	6.300000	0.72776	2.847000	0.97988	0.591000	0.81541	TCG	OTOG	-	superfamily_TIL_dom	ENSG00000188162		0.662	OTOG-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOG	HGNC	protein_coding		24	0.00	0	C			17600052	17600052	+1	no_errors	ENST00000399391	ensembl	human	known	69_37n	missense	19	32.14	9	SNP	1.000	T
OTUD6A	139562	genome.wustl.edu	37	X	69282995	69282995	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:69282995C>T	ENST00000338352.2	+	1	655	c.621C>T	c.(619-621)tgC>tgT	p.C207C		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	207	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						TGATCTACTGCGACAACATCG	0.622																																						dbGAP											0													69.0	62.0	65.0					X																	69282995		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.621C>T	X.37:g.69282995C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPB7	Silent	SNP	pfam_OTU,pfscan_OTU	p.C207	ENST00000338352.2	37	c.621	CCDS14395.1	X																																																																																			OTUD6A	-	pfam_OTU,pfscan_OTU	ENSG00000189401		0.622	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD6A	HGNC	protein_coding	OTTHUMT00000358763.1	31	0.00	0	C	NM_207320		69282995	69282995	+1	no_errors	ENST00000338352	ensembl	human	known	69_37n	silent	27	25.00	9	SNP	0.459	T
P2RX6	9127	genome.wustl.edu	37	22	21380774	21380774	+	Silent	SNP	A	A	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr22:21380774A>T	ENST00000413302.2	+	12	1342	c.1194A>T	c.(1192-1194)cgA>cgT	p.R398R	P2RX6_ENST00000443995.3_Silent_p.R345R|P2RX6_ENST00000401443.1_Silent_p.R372R|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000336296.2_Silent_p.R388R			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	398					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										CCCAAGCCCGACTGGCCGAGT	0.632																																						dbGAP											0													50.0	44.0	46.0					22																	21380774		2203	4292	6495	-	-	-	SO:0001819	synonymous_variant	0				CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8538	protein-coding gene	gene with protein product		608077	"""purinergic receptor P2X-like 1, orphan receptor"""	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.1194A>T	22.37:g.21380774A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Silent	SNP	pfam_P2X_purnocptor,prints_P2X6_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.R398	ENST00000413302.2	37	c.1194	CCDS13788.2	22																																																																																			P2RX6	-	NULL	ENSG00000099957		0.632	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX6	HGNC	protein_coding	OTTHUMT00000319625.2	49	0.00	0	A	NM_005446		21380774	21380774	+1	no_errors	ENST00000413302	ensembl	human	known	69_37n	silent	66	14.29	11	SNP	0.000	T
P4HTM	54681	genome.wustl.edu	37	3	49041556	49041556	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:49041556C>T	ENST00000383729.4	+	5	1121	c.750C>T	c.(748-750)tcC>tcT	p.S250S	P4HTM_ENST00000343546.4_Silent_p.S250S|WDR6_ENST00000395474.3_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	250	EF-hand 2.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	AGGAGTTCTCCAACATGGACC	0.582																																						dbGAP											0													49.0	40.0	43.0					3																	49041556		2186	4267	6453	-	-	-	SO:0001819	synonymous_variant	0				CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.750C>T	3.37:g.49041556C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Nonsense_Mutation	SNP	NULL	p.Q180*	ENST00000383729.4	37	c.538	CCDS43089.1	3	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325310	0.24080	.	.	ENSG00000178467	ENST00000444213	.	.	.	5.72	1.21	0.21127	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.0617	6.0567	0.19815	0.0:0.3116:0.3303:0.3581	.	.	.	.	X	180	.	.	Q	+	1	0	P4HTM	49016560	0.000000	0.05858	0.942000	0.38095	0.998000	0.95712	-0.202000	0.09451	0.188000	0.20168	0.561000	0.74099	CAA	P4HTM	-	NULL	ENSG00000178467		0.582	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HTM	HGNC	protein_coding	OTTHUMT00000157211.1	34	0.00	0	C	NM_177938		49041556	49041556	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000444213	ensembl	human	putative	69_37n	nonsense	26	31.58	12	SNP	0.964	T
PABPC1L	80336	genome.wustl.edu	37	20	43559250	43559250	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:43559250G>A	ENST00000217073.2	+	8	1122	c.1122G>A	c.(1120-1122)cgG>cgA	p.R374R	PABPC1L_ENST00000217075.2_5'Flank|PABPC1L_ENST00000217074.4_3'UTR|PABPC1L_ENST00000372819.1_5'Flank|PABPC1L_ENST00000255136.3_Silent_p.R374R|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000372824.1_5'Flank			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	374					mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						AAGAGGAGCGGAAGGCCATCT	0.627																																						dbGAP											0													194.0	185.0	188.0					20																	43559250		1568	3582	5150	-	-	-	SO:0001819	synonymous_variant	0			AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1122G>A	20.37:g.43559250G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VY17	Silent	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.R374	ENST00000217073.2	37	c.1122	CCDS42878.1	20																																																																																			PABPC1L	-	tigrfam_PABP_1234	ENSG00000101104		0.627	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PABPC1L	HGNC	protein_coding	OTTHUMT00000127816.2	44	0.00	0	G			43559250	43559250	+1	no_errors	ENST00000217073	ensembl	human	known	69_37n	silent	42	16.00	8	SNP	1.000	A
PAICS	10606	genome.wustl.edu	37	4	57314710	57314710	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:57314710G>C	ENST00000512576.1	+	4	681	c.520G>C	c.(520-522)Gaa>Caa	p.E174Q	PAICS_ENST00000514888.1_Missense_Mutation_p.E82Q|PAICS_ENST00000264221.2_Missense_Mutation_p.E174Q|PAICS_ENST00000399688.3_Missense_Mutation_p.E181Q	NM_001079524.1	NP_001072992.1	P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	174	SAICAR synthetase.				'de novo' IMP biosynthetic process (GO:0006189)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|phosphoribosylaminoimidazole carboxylase activity (GO:0004638)|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity (GO:0004639)			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	GGCTATATTTGAAATACTGGA	0.388																																					GBM(53;429 1144 8755 40726)	dbGAP											0													42.0	37.0	39.0					4																	57314710		1823	4088	5911	-	-	-	SO:0001583	missense	0			X53793	CCDS47060.1, CCDS47061.1	4q12	2012-07-13			ENSG00000128050	ENSG00000128050	4.1.1.21, 6.3.2.6		8587	protein-coding gene	gene with protein product		172439		PAIS		2253271, 8106516	Standard	NM_006452		Approved	ADE2H1, AIRC	uc003hbt.1	P22234	OTTHUMG00000160957	ENST00000512576.1:c.520G>C	4.37:g.57314710G>C	ENSP00000421096:p.Glu174Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDH9|Q68CQ5	Missense_Mutation	SNP	pfam_SAICAR_synth,pfam_N5-CAIR_Mutase_PurE_dom,superfamily_N5-CAIR_Mutase_PurE_dom,tigrfam_N5-CAIR_Mutase_PurE_dom	p.E174Q	ENST00000512576.1	37	c.520	CCDS47061.1	4	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285117	0.80803	.	.	ENSG00000128050	ENST00000514888;ENST00000264221;ENST00000505164;ENST00000399688;ENST00000512576	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.53	5.53	0.82687	ATP-grasp fold, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	M	0.65677	2.01	0.80722	D	1	B;P;B	0.35600	0.314;0.511;0.314	B;B;B	0.42245	0.378;0.381;0.378	T	0.60682	-0.7215	10	0.87932	D	0	-27.2392	19.8372	0.96661	0.0:0.0:1.0:0.0	.	174;181;174	E9PBS1;P22234-2;P22234	.;.;PUR6_HUMAN	Q	82;174;174;181;174	ENSP00000424907:E82Q;ENSP00000264221:E174Q;ENSP00000424053:E174Q;ENSP00000382595:E181Q;ENSP00000421096:E174Q	ENSP00000264221:E174Q	E	+	1	0	PAICS	57009467	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.700000	0.98707	2.770000	0.95276	0.655000	0.94253	GAA	PAICS	-	pfam_SAICAR_synth	ENSG00000128050		0.388	PAICS-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAICS	HGNC	protein_coding	OTTHUMT00000363136.2	40	0.00	0	G	NM_006452		57314710	57314710	+1	no_errors	ENST00000264221	ensembl	human	known	69_37n	missense	33	13.16	5	SNP	1.000	C
PAN3	255967	genome.wustl.edu	37	13	28855481	28855481	+	Silent	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr13:28855481C>G	ENST00000380958.3	+	17	2501	c.2349C>G	c.(2347-2349)ctC>ctG	p.L783L	PAN3_ENST00000399613.1_Silent_p.L583L|PAN3_ENST00000282391.5_Silent_p.L471L	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TGTTTAGGCTCCTAGCAAAAT	0.299																																						dbGAP											0													71.0	80.0	77.0					13																	28855481		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.2349C>G	13.37:g.28855481C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_cat_dom	p.L783	ENST00000380958.3	37	c.2349	CCDS9329.2	13																																																																																			PAN3	-	NULL	ENSG00000152520		0.299	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3	HGNC	protein_coding	OTTHUMT00000044318.4	25	0.00	0	C	NM_175854		28855481	28855481	+1	no_errors	ENST00000380958	ensembl	human	known	69_37n	silent	20	23.08	6	SNP	1.000	G
PAPSS1	9061	genome.wustl.edu	37	4	108641343	108641343	+	5'UTR	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:108641343G>A	ENST00000265174.4	-	0	265				PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1						3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CATGACCGCGGAGCGCGCTGA	0.687																																						dbGAP											0													47.0	45.0	45.0					4																	108641343		2202	4298	6500	-	-	-	SO:0001623	5_prime_UTR_variant	0			Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.-8C>T	4.37:g.108641343G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	RNA	SNP	-	NULL	ENST00000265174.4	37	NULL	CCDS3676.1	4																																																																																			PAPSS1	-	-	ENSG00000138801		0.687	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPSS1	HGNC	protein_coding	OTTHUMT00000253946.2	59	0.00	0	G			108641343	108641343	-1	no_errors	ENST00000504987	ensembl	human	known	69_37n	rna	58	23.68	18	SNP	0.002	A
PCDH9	5101	genome.wustl.edu	37	13	67205531	67205531	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr13:67205531C>A	ENST00000377865.2	-	3	3285	c.3151G>T	c.(3151-3153)Gtt>Ttt	p.V1051F	RNU7-87P_ENST00000459343.1_RNA|PCDH9_ENST00000456367.1_Missense_Mutation_p.V1017F|PCDH9_ENST00000328454.5_Missense_Mutation_p.V1017F|PCDH9_ENST00000544246.1_Missense_Mutation_p.V1051F			Q9HC56	PCDH9_HUMAN	protocadherin 9	1051					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGAAACGTAACACGGCGCTGC	0.493																																						dbGAP											0													79.0	70.0	73.0					13																	67205531		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3151G>T	13.37:g.67205531C>A	ENSP00000367096:p.Val1051Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V1051F	ENST00000377865.2	37	c.3151	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802839	0.70682	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.68479	-0.33;-0.33;0.18;0.18	5.63	5.63	0.86233	.	0.000000	0.40144	N	0.001172	T	0.71804	0.3383	L	0.59436	1.845	0.49213	D	0.999762	B;D	0.60575	0.007;0.988	B;P	0.48627	0.005;0.584	T	0.74284	-0.3715	10	0.56958	D	0.05	.	19.6801	0.95958	0.0:1.0:0.0:0.0	.	1017;1051	Q9HC56-2;Q9HC56	.;PCDH9_HUMAN	F	1051;1051;1017;1017	ENSP00000442186:V1051F;ENSP00000367096:V1051F;ENSP00000401699:V1017F;ENSP00000332060:V1017F	ENSP00000332060:V1017F	V	-	1	0	PCDH9	66103532	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.652000	0.90054	0.655000	0.94253	GTT	PCDH9	-	NULL	ENSG00000184226		0.493	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	38	0.00	0	C	NM_203487		67205531	67205531	-1	no_errors	ENST00000377865	ensembl	human	known	69_37n	missense	27	42.55	20	SNP	1.000	A
PCDHA8	56140	genome.wustl.edu	37	5	140221572	140221572	+	Silent	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:140221572C>G	ENST00000531613.1	+	1	666	c.666C>G	c.(664-666)ctC>ctG	p.L222L	PCDHA8_ENST00000378123.3_Silent_p.L222L|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	222	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCTGAGCTCACAGGCACTG	0.478																																						dbGAP											0													50.0	51.0	51.0					5																	140221572		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.666C>G	5.37:g.140221572C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGT7|O75281	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L222	ENST00000531613.1	37	c.666	CCDS54919.1	5																																																																																			PCDHA8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204962		0.478	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	38	0.00	0	C	NM_018911		140221572	140221572	+1	no_errors	ENST00000531613	ensembl	human	known	69_37n	silent	38	13.64	6	SNP	0.003	G
PCDHGA1	56114	genome.wustl.edu	37	5	140712607	140712607	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:140712607G>C	ENST00000517417.1	+	1	2356	c.2356G>C	c.(2356-2358)Gag>Cag	p.E786Q	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E786Q	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	786					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAGCTGTGAGAAAAAGGG	0.478																																						dbGAP											0													99.0	108.0	105.0					5																	140712607		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2356G>C	5.37:g.140712607G>C	ENSP00000431083:p.Glu786Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M273|Q9Y5D6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E786Q	ENST00000517417.1	37	c.2356	CCDS54922.1	5	.	.	.	.	.	.	.	.	.	.	.	13.97	2.394575	0.42512	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.51071	0.82;0.72	4.04	4.04	0.47022	.	0.142646	0.30911	N	0.008623	T	0.61615	0.2361	M	0.78916	2.43	0.20196	N	0.999923	D;P	0.58268	0.982;0.731	D;B	0.63488	0.915;0.285	T	0.55509	-0.8130	10	0.72032	D	0.01	.	5.8987	0.18953	0.1044:0.1975:0.6981:0.0	.	786;786	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	Q	786	ENSP00000431083:E786Q;ENSP00000367345:E786Q	ENSP00000367345:E786Q	E	+	1	0	PCDHGA1	140692791	0.026000	0.19158	1.000000	0.80357	0.983000	0.72400	1.134000	0.31442	2.245000	0.73994	0.585000	0.79938	GAG	PCDHGA1	-	NULL	ENSG00000204956		0.478	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1	46	0.00	0	G	NM_018912		140712607	140712607	+1	no_errors	ENST00000517417	ensembl	human	known	69_37n	missense	49	12.50	7	SNP	1.000	C
PCDHGB3	56102	genome.wustl.edu	37	5	140807592	140807592	+	Intron	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:140807592G>A	ENST00000576222.1	+	1	2546				PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_5'Flank|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCGCAGAGTCCGGCTA	0.652																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+55216G>A	5.37:g.140807592G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E229|Q9Y5C7	RNA	SNP	-	NULL	ENST00000576222.1	37	NULL	CCDS58980.1	5																																																																																			PCDHGB8P	-	-	ENSG00000248449		0.652	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB8P	HGNC	protein_coding	OTTHUMT00000437094.1	76	0.00	0	G	NM_018924		140807592	140807592	+1	no_errors	ENST00000502926	ensembl	human	known	69_37n	rna	85	13.27	13	SNP	0.051	A
PCNT	5116	genome.wustl.edu	37	21	47766851	47766851	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr21:47766851C>T	ENST00000359568.5	+	5	1022	c.915C>T	c.(913-915)ctC>ctT	p.L305L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	305	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGCTGGAGCTCCTCAGGGAGC	0.657																																						dbGAP											0													33.0	25.0	28.0					21																	47766851		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.915C>T	21.37:g.47766851C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O43152|Q7Z7C9	Silent	SNP	pfam_PACT_domain	p.L305	ENST00000359568.5	37	c.915	CCDS33592.1	21																																																																																			PCNT	-	NULL	ENSG00000160299		0.657	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	31	0.00	0	C	NM_006031		47766851	47766851	+1	no_errors	ENST00000359568	ensembl	human	known	69_37n	silent	21	16.00	4	SNP	0.000	T
PCSK5	5125	genome.wustl.edu	37	9	78804114	78804114	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:78804114G>A	ENST00000545128.1	+	19	3023	c.2485G>A	c.(2485-2487)Gag>Aag	p.E829K	PCSK5_ENST00000376752.4_Missense_Mutation_p.E829K	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	829	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCACTCTTCAGAGAATGGATA	0.443																																						dbGAP											0													116.0	101.0	106.0					9																	78804114		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.2485G>A	9.37:g.78804114G>A	ENSP00000446280:p.Glu829Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EGF-like,prints_Peptidase_S8_subtilisin-rel	p.E829K	ENST00000545128.1	37	c.2485	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297004	0.81025	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376752;ENST00000424854;ENST00000455778	T;T;T;T	0.53857	0.8;0.6;1.67;0.96	5.7	4.81	0.61882	Growth factor, receptor (1);	0.227351	0.52532	N	0.000067	T	0.35307	0.0927	L	0.31420	0.93	0.39191	D	0.962961	B;P	0.35139	0.022;0.486	B;B	0.31946	0.039;0.138	T	0.19386	-1.0307	10	0.12103	T	0.63	-19.3098	10.7632	0.46277	0.1441:0.0:0.8559:0.0	.	829;829	Q92824;Q92824-2	PCSK5_HUMAN;.	K	829;532;829;502;48	ENSP00000446280:E829K;ENSP00000365943:E829K;ENSP00000411654:E502K;ENSP00000407239:E48K	ENSP00000365943:E829K	E	+	1	0	PCSK5	77993934	1.000000	0.71417	0.950000	0.38849	0.995000	0.86356	6.918000	0.75788	1.437000	0.47472	0.561000	0.74099	GAG	PCSK5	-	superfamily_Growth_fac_rcpt	ENSG00000099139		0.443	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		49	0.00	0	G			78804114	78804114	+1	no_errors	ENST00000545128	ensembl	human	known	69_37n	missense	50	18.03	11	SNP	0.988	A
PDE3A	5139	genome.wustl.edu	37	12	20709646	20709646	+	Splice_Site	SNP	T	T	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:20709646T>A	ENST00000359062.3	+	2	1051		c.e2+2			NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited						blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GGATCACAGGTAAGTTTCTTT	0.383																																						dbGAP											0													84.0	82.0	83.0					12																	20709646		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1011+2T>A	12.37:g.20709646T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O60865|Q13348|Q17RD1	Splice_Site	SNP	-	e2+2	ENST00000359062.3	37	c.1011+2	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	T	14.78	2.638510	0.47153	.	.	ENSG00000172572	ENST00000359062	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3219	0.49428	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDE3A	20600913	1.000000	0.71417	0.998000	0.56505	0.579000	0.36224	2.594000	0.46189	2.237000	0.73441	0.473000	0.43528	.	PDE3A	-	-	ENSG00000172572		0.383	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	26	0.00	0	T		Intron	20709646	20709646	+1	no_errors	ENST00000359062	ensembl	human	known	69_37n	splice_site	20	16.67	4	SNP	0.998	A
PDE4B	5142	genome.wustl.edu	37	1	66829094	66829094	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:66829094G>C	ENST00000329654.4	+	12	1311	c.1124G>C	c.(1123-1125)aGa>aCa	p.R375T	PDE4B_ENST00000480109.2_Missense_Mutation_p.R142T|PDE4B_ENST00000371045.5_Missense_Mutation_p.R203T|PDE4B_ENST00000371049.3_Missense_Mutation_p.R375T|PDE4B_ENST00000423207.2_Missense_Mutation_p.R360T	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	375					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	ACACAGGAAAGAGACCTCCTA	0.333																																						dbGAP											0													52.0	52.0	52.0					1																	66829094		2203	4300	6503	-	-	-	SO:0001583	missense	0			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1124G>C	1.37:g.66829094G>C	ENSP00000332116:p.Arg375Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.R375T	ENST00000329654.4	37	c.1124	CCDS632.1	1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833158	0.91036	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000480109	T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.61	5.61	0.85477	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.82595	0.5071	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.89917	0.995;0.981;1.0;1.0;1.0	P;P;D;D;D	0.91635	0.902;0.888;0.999;0.999;0.999	D	0.84758	0.0760	10	0.87932	D	0	.	19.6299	0.95698	0.0:0.0:1.0:0.0	.	142;360;245;365;375	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	T	375;375;375;360;203;142	ENSP00000332116:R375T;ENSP00000342637:R375T;ENSP00000360088:R375T;ENSP00000392947:R360T;ENSP00000360084:R203T;ENSP00000432592:R142T	ENSP00000332116:R375T	R	+	2	0	PDE4B	66601682	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.869000	0.99810	2.639000	0.89480	0.655000	0.94253	AGA	PDE4B	-	NULL	ENSG00000184588		0.333	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	34	0.00	0	G	NM_002600		66829094	66829094	+1	no_errors	ENST00000329654	ensembl	human	known	69_37n	missense	34	12.82	5	SNP	1.000	C
PDZD2	23037	genome.wustl.edu	37	5	32087471	32087471	+	Missense_Mutation	SNP	G	G	A	rs544825168		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:32087471G>A	ENST00000438447.1	+	20	4305	c.3917G>A	c.(3916-3918)cGa>cAa	p.R1306Q	PDZD2_ENST00000282493.3_Missense_Mutation_p.R1306Q			O15018	PDZD2_HUMAN	PDZ domain containing 2	1306					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGCAAGACTCGATCAGCATCG	0.642																																						dbGAP											0													65.0	70.0	68.0					5																	32087471		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3917G>A	5.37:g.32087471G>A	ENSP00000402033:p.Arg1306Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R1306Q	ENST00000438447.1	37	c.3917	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	8.225	0.803301	0.16397	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.05855	3.38;3.38	3.49	-2.85	0.05734	.	2.337680	0.02363	N	0.077111	T	0.06600	0.0169	L	0.51422	1.61	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.37596	-0.9699	10	0.19590	T	0.45	.	4.6994	0.12820	0.4018:0.3236:0.2747:0.0	.	1306	O15018	PDZD2_HUMAN	Q	1306;1107;1306	ENSP00000402033:R1306Q;ENSP00000282493:R1306Q	ENSP00000282493:R1306Q	R	+	2	0	PDZD2	32123228	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.702000	0.05069	-0.740000	0.04803	-0.229000	0.12294	CGA	PDZD2	-	NULL	ENSG00000133401		0.642	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	20	0.00	0	G			32087471	32087471	+1	no_errors	ENST00000282493	ensembl	human	known	69_37n	missense	10	52.38	11	SNP	0.000	A
PDZD2	23037	genome.wustl.edu	37	5	32109108	32109108	+	3'UTR	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:32109108C>T	ENST00000438447.1	+	0	9775				PDZD2_ENST00000513490.1_3'UTR|CTD-2152M20.2_ENST00000503441.1_RNA|PDZD2_ENST00000282493.3_3'UTR			O15018	PDZD2_HUMAN	PDZ domain containing 2						cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGCTTGAATTCAAGACTGGTC	0.388																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.*867C>T	5.37:g.32109108C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXD4	RNA	SNP	-	NULL	ENST00000438447.1	37	NULL	CCDS34137.1	5																																																																																			PDZD2	-	-	ENSG00000133401		0.388	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	36	0.00	0	C			32109108	32109108	+1	no_errors	ENST00000513490	ensembl	human	known	69_37n	rna	33	23.26	10	SNP	0.988	T
PELP1	27043	genome.wustl.edu	37	17	4576547	4576547	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:4576547C>G	ENST00000574876.1	-	15	1860	c.1843G>C	c.(1843-1845)Gag>Cag	p.E615Q	PELP1_ENST00000436683.2_Missense_Mutation_p.E468Q|PELP1_ENST00000301396.4_Missense_Mutation_p.E759Q|PELP1_ENST00000269230.7_Missense_Mutation_p.L527F|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000572293.1_Missense_Mutation_p.E665Q			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	615					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						ACAGTTACCTCAAGGCTATCT	0.582																																						dbGAP											0													17.0	22.0	20.0					17																	4576547		2045	4204	6249	-	-	-	SO:0001583	missense	0				CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.1843G>C	17.37:g.4576547C>G	ENSP00000461625:p.Glu615Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold	p.E759Q	ENST00000574876.1	37	c.2275	CCDS58503.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.66|10.66	1.412020|1.412020	0.25465|0.25465	.|.	.|.	ENSG00000141456|ENSG00000141456	ENST00000301396;ENST00000436683|ENST00000269230	T;T|T	0.70869|0.43294	-0.52;-0.4|0.95	5.54|5.54	5.54|5.54	0.83059|0.83059	Uncharacterised domain NUC202 (1);|.	0.249848|.	0.40469|.	N|.	0.001085|.	T|T	0.35008|0.35008	0.0917|0.0917	N|N	0.12182|0.12182	0.205|0.205	0.38836|0.38836	D|D	0.955967|0.955967	P;P|.	0.39094|.	0.659;0.659|.	B;B|.	0.42882|.	0.401;0.401|.	T|T	0.34403|0.34403	-0.9830|-0.9830	10|7	0.40728|0.72032	T|D	0.16|0.01	-28.4622|-28.4622	12.5252|12.5252	0.56083|0.56083	0.0:0.833:0.167:0.0|0.0:0.833:0.167:0.0	.|.	468;615|.	E7EV54;Q8IZL8|.	.;PELP1_HUMAN|.	Q|F	759;468|527	ENSP00000301396:E759Q;ENSP00000416231:E468Q|ENSP00000269230:L527F	ENSP00000301396:E759Q|ENSP00000269230:L527F	E|L	-|-	1|3	0|2	AC091153.1|AC091153.1	4523296|4523296	0.944000|0.944000	0.32072|0.32072	0.996000|0.996000	0.52242|0.52242	0.988000|0.988000	0.76386|0.76386	1.777000|1.777000	0.38604|0.38604	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GAG|TTG	PELP1	-	pfam_Uncharacterised_NUC202	ENSG00000141456		0.582	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PELP1	HGNC	protein_coding	OTTHUMT00000439140.2	33	0.00	0	C	NM_014389		4576547	4576547	-1	no_errors	ENST00000301396	ensembl	human	known	69_37n	missense	23	34.29	12	SNP	0.994	G
PGK1	5230	genome.wustl.edu	37	X	77359848	77359848	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:77359848C>G	ENST00000373316.4	+	1	178	c.11C>G	c.(10-12)tCt>tGt	p.S4C	PGK1_ENST00000537456.1_5'Flank|PGK1_ENST00000442431.1_Missense_Mutation_p.S4C	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	4					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	ATGTCGCTTTCTAACAAGCTG	0.562																																						dbGAP											0													91.0	61.0	71.0					X																	77359848		2203	4296	6499	-	-	-	SO:0001583	missense	0			L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.11C>G	X.37:g.77359848C>G	ENSP00000362413:p.Ser4Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase	p.S4C	ENST00000373316.4	37	c.11	CCDS14438.1	X	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859187	0.71834	.	.	ENSG00000102144	ENST00000373316;ENST00000442431	D;D	0.92595	-3.07;-2.78	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.94145	0.8122	M	0.90082	3.085	0.80722	D	1	D	0.57571	0.98	P	0.45474	0.482	D	0.95376	0.8469	10	0.72032	D	0.01	-9.1813	16.4762	0.84133	0.0:1.0:0.0:0.0	.	4	P00558	PGK1_HUMAN	C	4	ENSP00000362413:S4C;ENSP00000405452:S4C	ENSP00000362413:S4C	S	+	2	0	PGK1	77246504	1.000000	0.71417	0.953000	0.39169	0.231000	0.25187	6.592000	0.74095	2.350000	0.79820	0.600000	0.82982	TCT	PGK1	-	NULL	ENSG00000102144		0.562	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGK1	HGNC	protein_coding	OTTHUMT00000057310.1	47	0.00	0	C			77359848	77359848	+1	no_errors	ENST00000373316	ensembl	human	known	69_37n	missense	38	11.63	5	SNP	1.000	G
PHF12	57649	genome.wustl.edu	37	17	27239657	27239657	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:27239657C>T	ENST00000332830.4	-	9	2742	c.1932G>A	c.(1930-1932)aaG>aaA	p.K644K	PHF12_ENST00000268756.3_Silent_p.K644K|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000577226.1_Silent_p.K644K	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			ATTGGACAGTCTTTCTTTGCA	0.587																																						dbGAP											0													86.0	94.0	91.0					17																	27239657		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.1932G>A	17.37:g.27239657C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.K644	ENST00000332830.4	37	c.1932	CCDS32598.1	17																																																																																			PHF12	-	NULL	ENSG00000109118		0.587	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	68	0.00	0	C	NM_020889		27239657	27239657	-1	no_errors	ENST00000332830	ensembl	human	known	69_37n	silent	59	16.67	12	SNP	1.000	T
JADE2	23338	genome.wustl.edu	37	5	133898055	133898055	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:133898055G>C	ENST00000402835.1	+	7	1105	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	PHF15_ENST00000282605.4_Missense_Mutation_p.E284Q|PHF15_ENST00000361895.2_Missense_Mutation_p.E284Q|PHF15_ENST00000395003.1_Missense_Mutation_p.E284Q																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGGATTCCTGAGGTGGGTGA	0.592																																						dbGAP											0													66.0	56.0	60.0					5																	133898055		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000402835.1:c.850G>C	5.37:g.133898055G>C	ENSP00000384671:p.Glu284Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E300Q	ENST00000402835.1	37	c.898		5	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974744	0.92919	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.53334	0.1790	M	0.91510	3.215	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.998;0.998;0.997;0.998	D;D;D;D;D	0.70935	0.971;0.967;0.971;0.96;0.971	T	0.60490	-0.7253	10	0.62326	D	0.03	.	20.3632	0.98871	0.0:0.0:1.0:0.0	.	284;284;284;284;300	Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	JADE2_HUMAN;.;.;.;.	Q	284;300;284;284;284;284;284	ENSP00000282605:E284Q;ENSP00000354425:E284Q;ENSP00000384671:E284Q;ENSP00000378451:E284Q	ENSP00000282605:E284Q	E	+	1	0	PHF15	133925954	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.760000	0.98935	2.826000	0.97356	0.561000	0.74099	GAG	PHF15	-	NULL	ENSG00000043143		0.592	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000318543.1	53	0.00	0	G			133898055	133898055	+1	no_errors	ENST00000448712	ensembl	human	known	69_37n	missense	55	14.06	9	SNP	1.000	C
PHF20L1	51105	genome.wustl.edu	37	8	133823350	133823350	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:133823350G>A	ENST00000395386.2	+	9	1206	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Missense_Mutation_p.E278K|PHF20L1_ENST00000337920.4_Missense_Mutation_p.E277K|PHF20L1_ENST00000395376.1_Missense_Mutation_p.E308K|PHF20L1_ENST00000395379.1_Missense_Mutation_p.E303K	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	303							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AGACTACAATGAAACAGCTCC	0.378																																						dbGAP											0													136.0	145.0	142.0					8																	133823350		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.907G>A	8.37:g.133823350G>A	ENSP00000378784:p.Glu303Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	pfam_DUF3776,smart_Tudor,smart_Tudor-like_plant	p.E303K	ENST00000395386.2	37	c.907	CCDS6367.2	8	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087742	0.76642	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395382;ENST00000395390;ENST00000395374	T;T;T;T;T;T;T;T	0.54479	0.61;0.72;0.57;1.27;0.58;0.65;0.73;1.26	6.07	6.07	0.98685	.	0.377392	0.33253	N	0.005103	T	0.40498	0.1119	L	0.29908	0.895	0.80722	D	1	P;B;B;B;B	0.34639	0.461;0.264;0.117;0.095;0.073	B;B;B;B;B	0.31101	0.107;0.124;0.072;0.042;0.049	T	0.20273	-1.0280	10	0.14656	T	0.56	-0.9018	17.7998	0.88583	0.0:0.0:1.0:0.0	.	278;142;303;303;277	F8W9L8;G5E9D0;A8MW92;A8MW92-4;A8MW92-2	.;.;P20L1_HUMAN;.;.	K	307;303;278;303;303;277;308;173;278;142	ENSP00000378781:E307K;ENSP00000378777:E303K;ENSP00000355301:E278K;ENSP00000378784:E303K;ENSP00000324519:E303K;ENSP00000338269:E277K;ENSP00000378775:E308K;ENSP00000378788:E278K	ENSP00000324519:E303K	E	+	1	0	PHF20L1	133892532	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	5.007000	0.63984	2.890000	0.99128	0.650000	0.86243	GAA	PHF20L1	-	pfam_DUF3776	ENSG00000129292		0.378	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PHF20L1	HGNC	protein_coding	OTTHUMT00000308949.3	58	0.00	0	G	NM_016018		133823350	133823350	+1	no_errors	ENST00000315808	ensembl	human	known	69_37n	missense	41	19.61	10	SNP	0.995	A
PHKB	5257	genome.wustl.edu	37	16	47730305	47730305	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:47730305C>T	ENST00000323584.5	+	29	2933	c.2909C>T	c.(2908-2910)tCa>tTa	p.S970L	PHKB_ENST00000455779.1_Missense_Mutation_p.S963L|PHKB_ENST00000299167.8_Missense_Mutation_p.S970L|PHKB_ENST00000566044.1_Missense_Mutation_p.S963L	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	970					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CCAACCCTGTCAGATATGACC	0.373																																						dbGAP											0													131.0	115.0	120.0					16																	47730305		2201	4300	6501	-	-	-	SO:0001583	missense	0				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2909C>T	16.37:g.47730305C>T	ENSP00000313504:p.Ser970Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N4T5	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.S970L	ENST00000323584.5	37	c.2909	CCDS10729.1	16	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603688	0.87157	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	T;T	0.69926	-0.44;-0.44	5.55	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.82522	0.5055	M	0.85373	2.75	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.70935	0.928;0.96;0.971	D	0.85652	0.1283	10	0.72032	D	0.01	-11.5208	14.4967	0.67694	0.0:0.9294:0.0:0.0706	.	211;970;963	B3KVX5;Q93100;Q93100-4	.;KPBB_HUMAN;.	L	963;963;970	ENSP00000414345:S963L;ENSP00000313504:S970L	ENSP00000299167:S963L	S	+	2	0	PHKB	46287806	1.000000	0.71417	0.975000	0.42487	0.800000	0.45204	7.751000	0.85126	1.362000	0.46000	0.650000	0.86243	TCA	PHKB	-	NULL	ENSG00000102893		0.373	PHKB-002	KNOWN	basic|CCDS	protein_coding	PHKB	HGNC	protein_coding	OTTHUMT00000430413.1	63	0.00	0	C			47730305	47730305	+1	no_errors	ENST00000299167	ensembl	human	known	69_37n	missense	41	34.92	22	SNP	1.000	T
PHRF1	57661	genome.wustl.edu	37	11	591405	591405	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:591405G>A	ENST00000264555.5	+	5	570	c.442G>A	c.(442-444)Gat>Aat	p.D148N	PHRF1_ENST00000533464.1_Missense_Mutation_p.D144N|PHRF1_ENST00000413872.2_Missense_Mutation_p.D147N|PHRF1_ENST00000416188.2_Missense_Mutation_p.D148N	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	148					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CTGTCCAGTTGATCGAACTCT	0.403																																						dbGAP											0													132.0	125.0	127.0					11																	591405		1933	4135	6068	-	-	-	SO:0001583	missense	0			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.442G>A	11.37:g.591405G>A	ENSP00000264555:p.Asp148Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D148N	ENST00000264555.5	37	c.442		11	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801918	0.50315	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	4.15	4.15	0.48705	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.35870	U	0.002938	T	0.82217	0.4989	M	0.83953	2.67	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.84533	0.0634	10	0.51188	T	0.08	-19.006	15.3666	0.74526	0.0:0.0:1.0:0.0	.	144;147;148;148	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	N	148;147;148;144	ENSP00000264555:D148N;ENSP00000388589:D147N;ENSP00000410626:D148N;ENSP00000431870:D144N	ENSP00000264555:D148N	D	+	1	0	PHRF1	581405	1.000000	0.71417	0.574000	0.28523	0.371000	0.29859	8.015000	0.88690	2.155000	0.67459	0.501000	0.49751	GAT	PHRF1	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000070047		0.403	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	68	0.00	0	G	NM_020901		591405	591405	+1	no_errors	ENST00000264555	ensembl	human	known	69_37n	missense	69	10.39	8	SNP	1.000	A
PICALM	8301	genome.wustl.edu	37	11	85692951	85692951	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:85692951C>T	ENST00000393346.3	-	15	1760	c.1612G>A	c.(1612-1614)Gat>Aat	p.D538N	PICALM_ENST00000528398.1_Missense_Mutation_p.D437N|PICALM_ENST00000532317.1_Missense_Mutation_p.D488N|PICALM_ENST00000526033.1_Missense_Mutation_p.D531N|PICALM_ENST00000356360.5_Missense_Mutation_p.D538N			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	538					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TCCAAGTCATCAGATACTAAC	0.413			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	dbGAP		Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	0													120.0	114.0	116.0					11																	85692951		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.1612G>A	11.37:g.85692951C>T	ENSP00000377015:p.Asp538Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.D538N	ENST00000393346.3	37	c.1612	CCDS8272.1	11	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400512	0.25291	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.28	5.28	0.74379	.	0.219838	0.46442	D	0.000288	T	0.50463	0.1617	L	0.32530	0.975	0.47441	D	0.999427	B;D;B;B;B;B	0.71674	0.058;0.998;0.001;0.001;0.019;0.001	B;D;B;B;B;B	0.78314	0.011;0.991;0.003;0.008;0.015;0.006	T	0.37596	-0.9699	9	.	.	.	-9.0859	19.2688	0.94000	0.0:1.0:0.0:0.0	.	437;115;538;531;538;488	E9PN05;B4DLM1;A8MX97;F8VPG7;Q13492;Q13492-3	.;.;.;.;PICAL_HUMAN;.	N	488;531;538;538;437;538	ENSP00000436958:D488N;ENSP00000433846:D531N;ENSP00000377015:D538N;ENSP00000434884:D437N;ENSP00000348718:D538N	.	D	-	1	0	PICALM	85370599	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.675000	0.68123	2.639000	0.89480	0.591000	0.81541	GAT	PICALM	-	NULL	ENSG00000073921		0.413	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PICALM	HGNC	protein_coding	OTTHUMT00000392224.1	76	0.00	0	C	NM_007166		85692951	85692951	-1	no_errors	ENST00000393346	ensembl	human	known	69_37n	missense	46	30.30	20	SNP	1.000	T
PIEZO2	63895	genome.wustl.edu	37	18	10759833	10759833	+	Silent	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr18:10759833C>G	ENST00000503781.3	-	23	3449	c.3450G>C	c.(3448-3450)ctG>ctC	p.L1150L	PIEZO2_ENST00000383408.2_Silent_p.L438L|PIEZO2_ENST00000302079.6_Silent_p.L1150L|PIEZO2_ENST00000580640.1_Silent_p.L1175L	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	1150					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										AGACAGCGATCAGCCAGCAGG	0.468																																						dbGAP											0													102.0	89.0	93.0					18																	10759833		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.3450G>C	18.37:g.10759833C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	NULL	p.L1164	ENST00000503781.3	37	c.3492		18																																																																																			PIEZO2	-	NULL	ENSG00000154864		0.468	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	32	0.00	0	C	NM_022068		10759833	10759833	-1	no_errors	ENST00000582913	ensembl	human	known	69_37n	silent	18	28.00	7	SNP	0.998	G
PIH1D1	55011	genome.wustl.edu	37	19	49952758	49952758	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:49952758C>A	ENST00000262265.5	-	3	546	c.311G>T	c.(310-312)gGa>gTa	p.G104V	PIH1D1_ENST00000596049.1_Missense_Mutation_p.G104V|PIH1D1_ENST00000602226.1_5'Flank	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	104					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		ATGAGGCTCTCCCAGACTCAT	0.612																																						dbGAP											0													103.0	91.0	95.0					19																	49952758		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.311G>T	19.37:g.49952758C>A	ENSP00000262265:p.Gly104Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGN7|B4E2X7|Q9BVL0	Missense_Mutation	SNP	NULL	p.G104V	ENST00000262265.5	37	c.311	CCDS12765.1	19	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586102	0.66105	.	.	ENSG00000104872	ENST00000262265	T	0.26373	1.74	5.22	3.08	0.35506	.	0.119796	0.56097	N	0.000030	T	0.49558	0.1564	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.47995	-0.9073	10	0.87932	D	0	-12.4526	6.691	0.23171	0.1757:0.7334:0.0:0.0909	.	104;104	B4DGN7;Q9NWS0	.;PIHD1_HUMAN	V	104	ENSP00000262265:G104V	ENSP00000262265:G104V	G	-	2	0	PIH1D1	54644570	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.993000	0.63895	0.587000	0.29643	-0.169000	0.13324	GGA	PIH1D1	-	NULL	ENSG00000104872		0.612	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIH1D1	HGNC	protein_coding	OTTHUMT00000465389.2	41	0.00	0	C	NM_017916		49952758	49952758	-1	no_errors	ENST00000262265	ensembl	human	known	69_37n	missense	43	21.82	12	SNP	1.000	A
PIH1D1	55011	genome.wustl.edu	37	19	49954100	49954100	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:49954100C>T	ENST00000262265.5	-	2	331	c.96G>A	c.(94-96)tcG>tcA	p.S32S	ALDH16A1_ENST00000293350.4_5'Flank|ALDH16A1_ENST00000540132.1_5'Flank|ALDH16A1_ENST00000433981.2_5'Flank|PIH1D1_ENST00000596049.1_Silent_p.S32S|ALDH16A1_ENST00000455361.2_5'Flank	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	32					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GGAGCTCCTTCGAGGCCTGTA	0.527																																						dbGAP											0													176.0	160.0	165.0					19																	49954100		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.96G>A	19.37:g.49954100C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGN7|B4E2X7|Q9BVL0	Silent	SNP	NULL	p.S32	ENST00000262265.5	37	c.96	CCDS12765.1	19																																																																																			PIH1D1	-	NULL	ENSG00000104872		0.527	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIH1D1	HGNC	protein_coding	OTTHUMT00000465389.2	47	0.00	0	C	NM_017916		49954100	49954100	-1	no_errors	ENST00000262265	ensembl	human	known	69_37n	silent	52	35.37	29	SNP	0.989	T
PIK3C2G	5288	genome.wustl.edu	37	12	18793483	18793483	+	Missense_Mutation	SNP	G	G	A	rs267603405		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:18793483G>A	ENST00000266497.5	+	30	4218	c.4180G>A	c.(4180-4182)Gaa>Aaa	p.E1394K	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.E1394K|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E1435K			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1394	C2.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|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 binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CACTTACAATGAAATTGTAAG	0.353																																						dbGAP											0													32.0	32.0	32.0					12																	18793483		1824	4083	5907	-	-	-	SO:0001583	missense	0			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.4180G>A	12.37:g.18793483G>A	ENSP00000266497:p.Glu1394Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U0	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.E1435K	ENST00000266497.5	37	c.4303	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041327	0.75732	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.77750	0.44;0.44;-1.12	3.71	3.71	0.42584	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000002	D	0.87819	0.6273	M	0.83118	2.625	0.51767	D	0.999932	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.996	D	0.89587	0.3825	10	0.87932	D	0	-19.2695	13.782	0.63087	0.0:0.0:1.0:0.0	.	1434;1435;1394	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	K	1394;1394;1435	ENSP00000404845:E1394K;ENSP00000266497:E1394K;ENSP00000445381:E1435K	ENSP00000266497:E1394K	E	+	1	0	PIK3C2G	18684750	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.612000	0.67681	2.370000	0.80446	0.655000	0.94253	GAA	PIK3C2G	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000139144		0.353	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	HGNC	protein_coding	OTTHUMT00000401316.1	32	0.00	0	G	NM_004570		18793483	18793483	+1	no_errors	ENST00000538779	ensembl	human	known	69_37n	missense	42	22.22	12	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178916854	178916854	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:178916854G>A	ENST00000263967.3	+	2	398	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	81	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		E -> K (in MCAP). {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.E81K(8)		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)	AGAAAGGGAAGAATTTTTTGA	0.358		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"""	8	Substitution - Missense(8)	endometrium(4)|large_intestine(3)|breast(1)											107.0	101.0	103.0					3																	178916854		1820	4081	5901	-	-	-	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.241G>A	3.37:g.178916854G>A	ENSP00000263967:p.Glu81Lys	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.E81K	ENST00000263967.3	37	c.241	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983574	0.93044	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.77620	-1.11;-1.11	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.89305	0.6677	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89493	0.3758	9	.	.	.	-5.0909	19.2635	0.93977	0.0:0.0:1.0:0.0	.	81	P42336	PK3CA_HUMAN	K	81	ENSP00000263967:E81K;ENSP00000417479:E81K	.	E	+	1	0	PIK3CA	180399548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.547000	0.85894	0.555000	0.69702	GAA	PIK3CA	-	pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom	ENSG00000121879		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	48	0.00	0	G			178916854	178916854	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	52	26.76	19	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:178928079G>A	ENST00000263967.3	+	8	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		E -> Q (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).|Missing (in MCAP). {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.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(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)	TCATGGATTAGAAGATTTGCT	0.348		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"""	19	Substitution - Missense(16)|Complex - frameshift(1)|Complex - deletion inframe(1)|Deletion - In frame(1)	endometrium(8)|breast(6)|lung(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)											137.0	130.0	132.0					3																	178928079		1829	4090	5919	-	-	-	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.1357G>A	3.37:g.178928079G>A	ENSP00000263967:p.Glu453Lys	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.E453K	ENST00000263967.3	37	c.1357	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.164616	0.94727	.	.	ENSG00000121879	ENST00000263967	T	0.71103	-0.54	5.64	5.64	0.86602	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77130	0.4085	M	0.68317	2.08	0.80722	D	1	P	0.50528	0.936	P	0.50970	0.655	T	0.72500	-0.4274	10	0.20046	T	0.44	-22.2286	19.6973	0.96031	0.0:0.0:1.0:0.0	.	453	P42336	PK3CA_HUMAN	K	453	ENSP00000263967:E453K	ENSP00000263967:E453K	E	+	1	0	PIK3CA	180410773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.448000	0.97600	2.674000	0.91012	0.655000	0.94253	GAA	PIK3CA	-	pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000121879		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	19	0.00	0	G			178928079	178928079	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	21	22.22	6	SNP	1.000	A
PIK3CG	5294	genome.wustl.edu	37	7	106526648	106526648	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:106526648G>C	ENST00000359195.3	+	10	3251	c.2941G>C	c.(2941-2943)Gag>Cag	p.E981Q	PIK3CG_ENST00000440650.2_Missense_Mutation_p.E981Q|PIK3CG_ENST00000496166.1_Missense_Mutation_p.E981Q	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	981	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CATTAATAAAGAGAGAGTGCC	0.403																																						dbGAP											0													102.0	100.0	101.0					7																	106526648		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2941G>C	7.37:g.106526648G>C	ENSP00000352121:p.Glu981Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,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.E981Q	ENST00000359195.3	37	c.2941	CCDS5739.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.191123	0.94923	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	D;D;D	0.87412	-2.25;-2.25;-2.25	5.64	5.64	0.86602	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.088147	0.85682	D	0.000000	D	0.95758	0.8620	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96259	0.9189	10	0.87932	D	0	-40.9092	20.0691	0.97712	0.0:0.0:1.0:0.0	.	981	P48736	PK3CG_HUMAN	Q	981	ENSP00000392258:E981Q;ENSP00000419260:E981Q;ENSP00000352121:E981Q	ENSP00000352121:E981Q	E	+	1	0	PIK3CG	106313884	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.820000	0.97059	0.650000	0.86243	GAG	PIK3CG	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000105851		0.403	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIK3CG	HGNC	protein_coding	OTTHUMT00000349294.1	19	0.00	0	G			106526648	106526648	+1	no_errors	ENST00000359195	ensembl	human	known	69_37n	missense	19	17.39	4	SNP	1.000	C
PJA1	64219	genome.wustl.edu	37	X	68381728	68381728	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:68381728C>G	ENST00000361478.1	-	2	1731	c.1354G>C	c.(1354-1356)Gag>Cag	p.E452Q	PJA1_ENST00000374583.1_Missense_Mutation_p.E452Q|PJA1_ENST00000477231.1_5'Flank|PJA1_ENST00000374584.3_Missense_Mutation_p.E264Q|PJA1_ENST00000374571.4_Missense_Mutation_p.E397Q	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	452					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GATGCCTGCTCTTCCTGAAGA	0.552																																						dbGAP											0													92.0	94.0	93.0					X																	68381728		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1354G>C	X.37:g.68381728C>G	ENSP00000355014:p.Glu452Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E452Q	ENST00000361478.1	37	c.1354	CCDS14393.1	X	.	.	.	.	.	.	.	.	.	.	c	16.90	3.248937	0.59103	.	.	ENSG00000181191	ENST00000396010;ENST00000374584;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T;T	0.06371	3.31;3.31;3.31;3.31	3.54	3.54	0.40534	.	0.430201	0.17931	U	0.157170	T	0.15349	0.0370	L	0.50333	1.59	0.09310	N	0.999998	P;D	0.61080	0.818;0.989	B;D	0.72982	0.259;0.979	T	0.03017	-1.1082	10	0.72032	D	0.01	-4.7076	6.1338	0.20219	0.0:0.8603:0.0:0.1397	.	452;264	Q8NG27;Q8NG27-2	PJA1_HUMAN;.	Q	367;264;452;452;397	ENSP00000363712:E264Q;ENSP00000363711:E452Q;ENSP00000355014:E452Q;ENSP00000363699:E397Q	ENSP00000355014:E452Q	E	-	1	0	PJA1	68298453	0.999000	0.42202	0.027000	0.17364	0.340000	0.28889	5.224000	0.65288	2.049000	0.60858	0.540000	0.68198	GAG	PJA1	-	NULL	ENSG00000181191		0.552	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PJA1	HGNC	protein_coding	OTTHUMT00000057031.2	79	0.00	0	C	NM_145119		68381728	68381728	-1	no_errors	ENST00000361478	ensembl	human	known	69_37n	missense	98	16.24	19	SNP	0.428	G
PKD1L3	342372	genome.wustl.edu	37	16	71967854	71967854	+	RNA	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:71967854C>T	ENST00000534738.1	-	0	4783				RP11-498D10.6_ENST00000573861.1_RNA			Q7Z443	PK1L3_HUMAN	polycystic kidney disease 1-like 3						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|neuropeptide signaling pathway (GO:0007218)|sensory perception of sour taste (GO:0050915)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						TTAGGATGATCAGCAGAAAGC	0.577																																						dbGAP											0													38.0	38.0	38.0					16																	71967854		692	1591	2283	-	-	-			0			AY164485	CCDS73912.1	16q22.2	2008-02-05				ENSG00000277481			21716	protein-coding gene	gene with protein product		607895				12782129	Standard	NM_181536		Approved		uc010vmm.2	Q7Z443			16.37:g.71967854C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000534738.1	37	NULL		16																																																																																			PKD1L3	-	-	ENSG00000187008		0.577	PKD1L3-001	KNOWN	basic	processed_transcript	PKD1L3	HGNC	processed_transcript	OTTHUMT00000387876.1	38	0.00	0	C	NM_181536		71967854	71967854	-1	no_errors	ENST00000335106	ensembl	human	known	69_37n	rna	26	31.58	12	SNP	1.000	T
PKD1L3	342372	genome.wustl.edu	37	16	71969322	71969322	+	RNA	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:71969322C>G	ENST00000534738.1	-	0	4547							Q7Z443	PK1L3_HUMAN	polycystic kidney disease 1-like 3						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|neuropeptide signaling pathway (GO:0007218)|sensory perception of sour taste (GO:0050915)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						CTCTTCATGTCAAGCCCCAGG	0.473																																						dbGAP											0													216.0	176.0	188.0					16																	71969322		692	1591	2283	-	-	-			0			AY164485	CCDS73912.1	16q22.2	2008-02-05				ENSG00000277481			21716	protein-coding gene	gene with protein product		607895				12782129	Standard	NM_181536		Approved		uc010vmm.2	Q7Z443			16.37:g.71969322C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000534738.1	37	NULL		16																																																																																			PKD1L3	-	-	ENSG00000187008		0.473	PKD1L3-001	KNOWN	basic	processed_transcript	PKD1L3	HGNC	processed_transcript	OTTHUMT00000387876.1	49	0.00	0	C	NM_181536		71969322	71969322	-1	no_errors	ENST00000335106	ensembl	human	known	69_37n	rna	26	18.75	6	SNP	0.353	G
PKD2L1	9033	genome.wustl.edu	37	10	102056047	102056047	+	Silent	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr10:102056047G>C	ENST00000318222.3	-	7	1570	c.1188C>G	c.(1186-1188)ctC>ctG	p.L396L	PKD2L1_ENST00000338519.3_Silent_p.L321L|PKD2L1_ENST00000353274.3_Silent_p.L396L	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	396					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCACAATGGAGAGCTGTCACA	0.552																																						dbGAP											0													45.0	44.0	44.0					10																	102056047		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1188C>G	10.37:g.102056047G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1	p.L396	ENST00000318222.3	37	c.1188	CCDS7492.1	10																																																																																			PKD2L1	-	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2	ENSG00000107593		0.552	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2L1	HGNC	protein_coding	OTTHUMT00000049863.2	36	0.00	0	G	NM_016112		102056047	102056047	-1	no_errors	ENST00000318222	ensembl	human	known	69_37n	silent	43	18.87	10	SNP	0.997	C
PKN3	29941	genome.wustl.edu	37	9	131482032	131482032	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:131482032G>A	ENST00000291906.4	+	19	2586	c.2193G>A	c.(2191-2193)ctG>ctA	p.L731L	ZDHHC12_ENST00000467312.1_5'Flank|PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	731	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CCGAGGTGCTGACCCAGGAGG	0.627																																						dbGAP											0													136.0	145.0	142.0					9																	131482032		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.2193G>A	9.37:g.131482032G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UM03	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.L731	ENST00000291906.4	37	c.2193	CCDS6908.1	9																																																																																			PKN3	-	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	ENSG00000160447		0.627	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN3	HGNC	protein_coding	OTTHUMT00000054487.1	54	0.00	0	G	NM_013355		131482032	131482032	+1	no_errors	ENST00000291906	ensembl	human	known	69_37n	silent	47	21.67	13	SNP	1.000	A
PKP3	11187	genome.wustl.edu	37	11	397562	397562	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:397562C>T	ENST00000331563.2	+	4	1044	c.968C>T	c.(967-969)tCa>tTa	p.S323L		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	323					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACCTGCCCTCAGCAGTCAAG	0.607																																						dbGAP											0													67.0	62.0	63.0					11																	397562		2203	4298	6501	-	-	-	SO:0001583	missense	0			Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.968C>T	11.37:g.397562C>T	ENSP00000331678:p.Ser323Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	F8J390|Q53EX8	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S323L	ENST00000331563.2	37	c.968	CCDS7695.1	11	.	.	.	.	.	.	.	.	.	.	c	16.58	3.161816	0.57368	.	.	ENSG00000184363	ENST00000533249;ENST00000331563	T	0.47869	0.83	4.45	3.54	0.40534	Armadillo-like helical (1);Armadillo-type fold (1);	0.384724	0.22962	N	0.053537	T	0.36082	0.0954	L	0.50333	1.59	0.36409	D	0.863636	P	0.35844	0.524	B	0.25140	0.058	T	0.48603	-0.9021	10	0.72032	D	0.01	-8.2377	8.8992	0.35484	0.0:0.8251:0.0:0.1749	.	323	Q9Y446	PKP3_HUMAN	L	167;323	ENSP00000331678:S323L	ENSP00000331678:S323L	S	+	2	0	PKP3	387562	0.870000	0.30015	0.922000	0.36590	0.977000	0.68977	4.173000	0.58249	1.024000	0.39682	0.556000	0.70494	TCA	PKP3	-	superfamily_ARM-type_fold	ENSG00000184363		0.607	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP3	HGNC	protein_coding	OTTHUMT00000239281.1	55	0.00	0	C	NM_007183		397562	397562	+1	no_errors	ENST00000331563	ensembl	human	known	69_37n	missense	62	15.07	11	SNP	0.766	T
PLBD2	196463	genome.wustl.edu	37	12	113824889	113824889	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:113824889G>A	ENST00000280800.3	+	10	1465	c.1434G>A	c.(1432-1434)ctG>ctA	p.L478L	PLBD2_ENST00000545182.2_Silent_p.L446L	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	478					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TGGTCAGGCTGATGAGGTAGG	0.562																																						dbGAP											0													60.0	67.0	64.0					12																	113824889		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1434G>A	12.37:g.113824889G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	F5H5E2	Silent	SNP	pfam_PLipase_B-like	p.L478	ENST00000280800.3	37	c.1434	CCDS9168.1	12																																																																																			PLBD2	-	pfam_PLipase_B-like	ENSG00000151176		0.562	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD2	HGNC	protein_coding	OTTHUMT00000404835.1	32	0.00	0	G	NM_173542		113824889	113824889	+1	no_errors	ENST00000280800	ensembl	human	known	69_37n	silent	30	16.67	6	SNP	0.003	A
PLEKHA6	22874	genome.wustl.edu	37	1	204228735	204228735	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:204228735C>A	ENST00000272203.3	-	8	974	c.658G>T	c.(658-660)Gag>Tag	p.E220*	PLEKHA6_ENST00000485632.1_5'Flank|PLEKHA6_ENST00000414478.1_Nonsense_Mutation_p.E240*	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	220	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCCTTCTCTCTGCCTTCTCA	0.632																																						dbGAP											0													72.0	71.0	71.0					1																	204228735		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.658G>T	1.37:g.204228735C>A	ENSP00000272203:p.Glu220*	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD51|Q5VTI6	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E220*	ENST00000272203.3	37	c.658	CCDS1444.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.985688	0.97983	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	.	.	.	5.55	5.55	0.83447	.	0.189638	0.46758	D	0.000273	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-32.5006	19.0875	0.93212	0.0:1.0:0.0:0.0	.	.	.	.	X	220;240	.	ENSP00000272203:E220X	E	-	1	0	PLEKHA6	202495358	1.000000	0.71417	0.976000	0.42696	0.662000	0.39071	6.101000	0.71479	2.601000	0.87937	0.561000	0.74099	GAG	PLEKHA6	-	NULL	ENSG00000143850		0.632	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA6	HGNC	protein_coding	OTTHUMT00000087889.3	50	0.00	0	C	NM_014935		204228735	204228735	-1	no_errors	ENST00000272203	ensembl	human	known	69_37n	nonsense	46	36.11	26	SNP	0.991	A
PLEKHH2	130271	genome.wustl.edu	37	2	43926827	43926827	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:43926827G>A	ENST00000282406.4	+	8	840	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	244					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCAAGTTCTAGAAAACAACAG	0.398																																						dbGAP											0													71.0	77.0	75.0					2																	43926827		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.730G>A	2.37:g.43926827G>A	ENSP00000282406:p.Glu244Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.E244K	ENST00000282406.4	37	c.730	CCDS1812.1	2	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407247	0.62399	.	.	ENSG00000152527	ENST00000282406	T	0.46451	0.87	5.84	5.84	0.93424	.	0.517159	0.20639	N	0.088436	T	0.34221	0.0890	L	0.36672	1.1	0.52099	D	0.999941	P;B	0.40970	0.734;0.225	B;B	0.37198	0.243;0.048	T	0.07539	-1.0767	10	0.13853	T	0.58	-8.8974	18.3105	0.90197	0.0:0.0:1.0:0.0	.	244;244	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	K	244	ENSP00000282406:E244K	ENSP00000282406:E244K	E	+	1	0	PLEKHH2	43780331	1.000000	0.71417	0.787000	0.31911	0.997000	0.91878	5.769000	0.68865	2.765000	0.95021	0.655000	0.94253	GAA	PLEKHH2	-	NULL	ENSG00000152527		0.398	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1	20	0.00	0	G	NM_172069		43926827	43926827	+1	no_errors	ENST00000282406	ensembl	human	known	69_37n	missense	27	18.18	6	SNP	0.992	A
PLEKHH3	79990	genome.wustl.edu	37	17	40826403	40826403	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:40826403G>A	ENST00000591022.1	-	2	574	c.187C>T	c.(187-189)Cag>Tag	p.Q63*	PLEKHH3_ENST00000293349.6_Nonsense_Mutation_p.Q63*|PLEKHH3_ENST00000412503.1_Nonsense_Mutation_p.Q63*|PLEKHH3_ENST00000456950.2_5'UTR	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	63					signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CTCACTGGCTGAGTCAGCGTC	0.647																																						dbGAP											0													67.0	60.0	62.0					17																	40826403		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.187C>T	17.37:g.40826403G>A	ENSP00000468678:p.Gln63*	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Nonsense_Mutation	SNP	pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.Q63*	ENST00000591022.1	37	c.187	CCDS11434.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.639188	0.96693	.	.	ENSG00000068137	ENST00000293349;ENST00000412503	.	.	.	4.49	4.49	0.54785	.	0.361937	0.20049	N	0.100352	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-14.5495	14.0164	0.64527	0.0:0.0:1.0:0.0	.	.	.	.	X	63	.	ENSP00000293349:Q63X	Q	-	1	0	PLEKHH3	38079929	1.000000	0.71417	0.998000	0.56505	0.026000	0.11368	4.090000	0.57693	2.313000	0.78055	0.491000	0.48974	CAG	PLEKHH3	-	NULL	ENSG00000068137		0.647	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHH3	HGNC	protein_coding	OTTHUMT00000452332.1	63	0.00	0	G	NM_024927		40826403	40826403	-1	no_errors	ENST00000591022	ensembl	human	known	69_37n	nonsense	53	18.46	12	SNP	0.997	A
PLXNA1	5361	genome.wustl.edu	37	3	126722189	126722189	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:126722189C>T	ENST00000393409.2	+	3	1394	c.1394C>T	c.(1393-1395)tCa>tTa	p.S465L	PLXNA1_ENST00000251772.4_Missense_Mutation_p.S442L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	465	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GTGGACCTCTCAAACCCCGGT	0.667																																						dbGAP											0													59.0	60.0	60.0					3																	126722189		2203	4300	6503	-	-	-	SO:0001583	missense	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1394C>T	3.37:g.126722189C>T	ENSP00000377061:p.Ser465Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.S465L	ENST00000393409.2	37	c.1394	CCDS33847.2	3	.	.	.	.	.	.	.	.	.	.	C	4.943	0.175278	0.09391	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.12879	2.64;2.64	4.67	-1.16	0.09678	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	.	.	.	.	T	0.10637	0.0260	L	0.29908	0.895	0.09310	N	1	B	0.14805	0.011	B	0.17979	0.02	T	0.29305	-1.0016	9	0.45353	T	0.12	.	11.6119	0.51064	0.2142:0.2808:0.505:0.0	.	465	Q9UIW2	PLXA1_HUMAN	L	465;442	ENSP00000377061:S465L;ENSP00000251772:S442L	ENSP00000251772:S442L	S	+	2	0	PLXNA1	128204879	0.006000	0.16342	0.001000	0.08648	0.049000	0.14656	1.151000	0.31651	-0.491000	0.06697	0.591000	0.81541	TCA	PLXNA1	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000114554		0.667	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	74	0.00	0	C	NM_032242		126722189	126722189	+1	no_errors	ENST00000393409	ensembl	human	known	69_37n	missense	77	22.22	22	SNP	0.000	T
POLA1	5422	genome.wustl.edu	37	X	24717574	24717574	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:24717574C>G	ENST00000379059.3	+	2	73	c.58C>G	c.(58-60)Cga>Gga	p.R20G	AC004655.1_ENST00000577230.1_RNA|POLA1_ENST00000379068.3_Missense_Mutation_p.R26G	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	20					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TGTATCTTCTCGAGCCCGGCG	0.383																																						dbGAP											0													22.0	23.0	23.0					X																	24717574		2201	4294	6495	-	-	-	SO:0001583	missense	0				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.58C>G	X.37:g.24717574C>G	ENSP00000368349:p.Arg20Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UQ7	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.R26G	ENST00000379059.3	37	c.76	CCDS14214.1	X	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761261	0.69763	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.32023	1.58;1.47	5.05	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.43299	0.1241	L	0.32530	0.975	0.58432	D	0.999999	D;D	0.76494	0.997;0.999	D;D	0.79784	0.987;0.993	T	0.38090	-0.9677	10	0.72032	D	0.01	-6.2727	12.9005	0.58123	0.1637:0.8363:0.0:0.0	.	26;20	A6NMQ1;P09884	.;DPOLA_HUMAN	G	26;20	ENSP00000368358:R26G;ENSP00000368349:R20G	ENSP00000368349:R20G	R	+	1	2	POLA1	24627495	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	2.101000	0.41787	1.102000	0.41551	0.513000	0.50165	CGA	POLA1	-	NULL	ENSG00000101868		0.383	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	HGNC	protein_coding	OTTHUMT00000056111.1	88	0.00	0	C	NM_016937		24717574	24717574	+1	no_errors	ENST00000379068	ensembl	human	known	69_37n	missense	75	10.71	9	SNP	1.000	G
POLQ	10721	genome.wustl.edu	37	3	121217467	121217467	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:121217467G>A	ENST00000264233.5	-	13	2138	c.2010C>T	c.(2008-2010)ttC>ttT	p.F670F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	670					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCCATAAACAGAAAAATCGAT	0.368								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	dbGAP											0													97.0	91.0	93.0					3																	121217467		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2010C>T	3.37:g.121217467G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O95160|Q6VMB5	Silent	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.F670	ENST00000264233.5	37	c.2010	CCDS33833.1	3																																																																																			POLQ	-	NULL	ENSG00000051341		0.368	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	66	0.00	0	G	NM_199420		121217467	121217467	-1	no_errors	ENST00000264233	ensembl	human	known	69_37n	silent	63	17.11	13	SNP	1.000	A
POLR1D	51082	genome.wustl.edu	37	13	28196057	28196057	+	5'UTR	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr13:28196057C>G	ENST00000302979.3	+	0	959				POLR1D_ENST00000465887.1_3'UTR|POLR1D_ENST00000399696.1_5'UTR|POLR1D_ENST00000399697.3_5'UTR|LNX2_ENST00000316334.3_5'Flank	NM_015972.3	NP_057056.1	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D, 16kDa						gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(1)|large_intestine(1)|lung(4)|stomach(2)	8		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		CTCCGCGCCTCGCGCTATGGG	0.697																																						dbGAP											0													14.0	16.0	15.0					13																	28196057		692	1590	2282	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF077044, BC018528	CCDS9324.1, CCDS9325.1, CCDS73555.1	13q12.2	2013-01-21			ENSG00000186184	ENSG00000186184		"""RNA polymerase subunits"""	20422	protein-coding gene	gene with protein product		613715				11042152, 12391170	Standard	NM_015972		Approved	RPAC2, RPA16, RPO1-3, RPA9, MGC9850	uc001urp.3	Q9Y2S0	OTTHUMG00000016635	ENST00000302979.3:c.-64C>G	13.37:g.28196057C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TBX2|Q96BR3	RNA	SNP	-	NULL	ENST00000302979.3	37	NULL	CCDS9325.1	13																																																																																			POLR1D	-	-	ENSG00000186184		0.697	POLR1D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POLR1D	HGNC	protein_coding	OTTHUMT00000044305.1	68	0.00	0	C	NM_015972, NM_152705		28196057	28196057	+1	no_errors	ENST00000465887	ensembl	human	known	69_37n	rna	44	35.29	24	SNP	0.000	G
POU1F1	5449	genome.wustl.edu	37	3	87309196	87309196	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:87309196G>C	ENST00000350375.2	-	6	848	c.724C>G	c.(724-726)Caa>Gaa	p.Q242E	POU1F1_ENST00000344265.3_Missense_Mutation_p.Q268E|POU1F1_ENST00000560656.1_Silent_p.L166L	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	242					B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		ATGATCTCTTGAGAAGAAGGT	0.443																																						dbGAP											0													68.0	67.0	67.0					3																	87309196		2203	4300	6503	-	-	-	SO:0001583	missense	0			D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"""Homeoboxes / POU class"""	9210	protein-coding gene	gene with protein product	"""growth hormone factor 1"""	173110	"""POU domain class 1, transcription factor 1"""	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.724C>G	3.37:g.87309196G>C	ENSP00000263781:p.Gln242Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.Q268E	ENST00000350375.2	37	c.802	CCDS2919.1	3	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702996	0.48412	.	.	ENSG00000064835	ENST00000350375;ENST00000344265	D;D	0.95656	-3.77;-3.77	6.07	6.07	0.98685	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95912	0.8669	N	0.25201	0.72	0.80722	D	1	D;D	0.54601	0.967;0.96	D;D	0.66497	0.944;0.931	D	0.96352	0.9259	10	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	268;242	P28069-2;P28069	.;PIT1_HUMAN	E	242;268	ENSP00000263781:Q242E;ENSP00000342931:Q268E	ENSP00000342931:Q268E	Q	-	1	0	POU1F1	87391886	1.000000	0.71417	0.990000	0.47175	0.928000	0.56348	9.441000	0.97557	2.885000	0.99019	0.655000	0.94253	CAA	POU1F1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000064835		0.443	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU1F1	HGNC	protein_coding	OTTHUMT00000352827.1	41	0.00	0	G	NM_000306		87309196	87309196	-1	no_errors	ENST00000344265	ensembl	human	known	69_37n	missense	29	25.64	10	SNP	1.000	C
POU4F2	5458	genome.wustl.edu	37	4	147561215	147561215	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:147561215C>G	ENST00000281321.3	+	2	733	c.485C>G	c.(484-486)tCg>tGg	p.S162W	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	162					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GTGCCCATCTCGCACCCTTCC	0.652																																						dbGAP											0													97.0	103.0	101.0					4																	147561215		2203	4300	6503	-	-	-	SO:0001583	missense	0			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.485C>G	4.37:g.147561215C>G	ENSP00000281321:p.Ser162Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.S162W	ENST00000281321.3	37	c.485	CCDS34074.1	4	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618561	0.66787	.	.	ENSG00000151615	ENST00000281321	D	0.82619	-1.63	5.77	5.77	0.91146	.	0.280259	0.39083	N	0.001474	D	0.87022	0.6074	L	0.38175	1.15	0.80722	D	1	D	0.76494	0.999	D	0.64237	0.923	D	0.87781	0.2612	10	0.72032	D	0.01	.	18.7641	0.91865	0.0:1.0:0.0:0.0	.	162	Q12837	PO4F2_HUMAN	W	162	ENSP00000281321:S162W	ENSP00000281321:S162W	S	+	2	0	POU4F2	147780665	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.669000	0.46825	2.729000	0.93468	0.467000	0.42956	TCG	POU4F2	-	NULL	ENSG00000151615		0.652	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F2	HGNC	protein_coding	OTTHUMT00000367020.1	36	0.00	0	C	NM_004575		147561215	147561215	+1	no_errors	ENST00000281321	ensembl	human	known	69_37n	missense	52	16.13	10	SNP	1.000	G
POU5F2	134187	genome.wustl.edu	37	5	93076634	93076634	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:93076634C>G	ENST00000510627.4	-	1	709	c.636G>C	c.(634-636)tgG>tgC	p.W212C	POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000505869.1_Intron|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	212					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		TTGCCCGTCTCCACTTCCCAG	0.537																																						dbGAP											0													115.0	111.0	112.0					5																	93076634		2055	4233	6288	-	-	-	SO:0001583	missense	0				CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.636G>C	5.37:g.93076634C>G	ENSP00000464890:p.Trp212Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15169|Q6MZL7|Q8N748	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.W212C	ENST00000510627.4	37	c.636	CCDS59489.1	5																																																																																			POU5F2	-	superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_POU	ENSG00000248483		0.537	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F2	HGNC	protein_coding	OTTHUMT00000369873.5	47	0.00	0	C	NM_153216		93076634	93076634	-1	no_errors	ENST00000510627	ensembl	human	known	69_37n	missense	54	10.00	6	SNP	0.993	G
POU6F1	5463	genome.wustl.edu	37	12	51591678	51591678	+	5'UTR	SNP	G	G	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:51591678G>T	ENST00000389243.4	-	0	730				POU6F1_ENST00000550824.1_5'Flank|POU6F1_ENST00000333640.10_5'UTR			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1						brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GGTGTggtctgcagcagcggc	0.701																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.-210C>A	12.37:g.51591678G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15944|Q6DK47|Q7Z7P6	RNA	SNP	-	NULL	ENST00000389243.4	37	NULL	CCDS31803.1	12																																																																																			POU6F1	-	-	ENSG00000184271		0.701	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU6F1	HGNC	protein_coding	OTTHUMT00000405126.1	39	0.00	0	G	NM_002702		51591678	51591678	-1	no_errors	ENST00000552305	ensembl	human	known	69_37n	rna	37	15.91	7	SNP	1.000	T
POU6F2	11281	genome.wustl.edu	37	7	39503959	39503959	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:39503959G>A	ENST00000403058.1	+	11	1904	c.1750G>A	c.(1750-1752)Gag>Aag	p.E584K	POU6F2_ENST00000559001.1_Missense_Mutation_p.E529K|POU6F2_ENST00000518318.2_Missense_Mutation_p.E548K	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	584	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GTGGATGGCTGAGGCTGAGGC	0.562																																						dbGAP											0													60.0	62.0	62.0					7																	39503959		2203	4300	6503	-	-	-	SO:0001583	missense	0			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1750G>A	7.37:g.39503959G>A	ENSP00000384004:p.Glu584Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.E584K	ENST00000403058.1	37	c.1750	CCDS34620.2	7	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804231	0.70682	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	D;D	0.85258	-1.96;-1.96	5.28	5.28	0.74379	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.91828	0.7414	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.92368	0.5903	10	0.87932	D	0	.	19.2786	0.94042	0.0:0.0:1.0:0.0	.	584	P78424	PO6F2_HUMAN	K	584;548	ENSP00000384004:E584K;ENSP00000430514:E548K	ENSP00000384004:E584K	E	+	1	0	POU6F2	39470484	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.623000	0.88846	0.655000	0.94253	GAG	POU6F2	-	pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU	ENSG00000106536		0.562	POU6F2-002	KNOWN	basic|CCDS	protein_coding	POU6F2	HGNC	protein_coding	OTTHUMT00000320146.3	32	0.00	0	G	NM_007252		39503959	39503959	+1	no_errors	ENST00000403058	ensembl	human	known	69_37n	missense	38	26.92	14	SNP	1.000	A
PPAPDC2	403313	genome.wustl.edu	37	9	4662873	4662873	+	Silent	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:4662873G>C	ENST00000381883.2	+	1	576	c.498G>C	c.(496-498)ctG>ctC	p.L166L	SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000381895.5_Intron|SPATA6L_ENST00000223517.5_Intron	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain containing 2	166						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		GCGAGGTGCTGATGAACCTGC	0.647																																					Melanoma(187;1057 3809 8526)	dbGAP											0													49.0	40.0	43.0					9																	4662873		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK128369	CCDS34981.1	9p24	2010-04-23			ENSG00000205808	ENSG00000205808			23682	protein-coding gene	gene with protein product	"""polyisoprenoid diphosphate phosphatase type 1"""	611666				16464866	Standard	NM_203453		Approved	FLJ90191, FLJ46512, PDP1	uc003zin.4	Q8IY26	OTTHUMG00000019466	ENST00000381883.2:c.498G>C	9.37:g.4662873G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KY05|Q5JVJ6|Q8NCK9	Silent	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.L166	ENST00000381883.2	37	c.498	CCDS34981.1	9																																																																																			PPAPDC2	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	ENSG00000205808		0.647	PPAPDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAPDC2	HGNC	protein_coding	OTTHUMT00000051567.1	37	0.00	0	G	NM_203453		4662873	4662873	+1	no_errors	ENST00000381883	ensembl	human	known	69_37n	silent	58	18.31	13	SNP	0.990	C
PPFIA3	8541	genome.wustl.edu	37	19	49652821	49652821	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:49652821C>T	ENST00000334186.4	+	28	3721	c.3372C>T	c.(3370-3372)ttC>ttT	p.F1124F	PPFIA3_ENST00000602351.1_Silent_p.F1115F	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1124					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CCAAGTCTTTCAGCCGCTCCC	0.622																																						dbGAP											0													38.0	38.0	38.0					19																	49652821		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.3372C>T	19.37:g.49652821C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.F1124	ENST00000334186.4	37	c.3372	CCDS12758.1	19																																																																																			PPFIA3	-	NULL	ENSG00000177380		0.622	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1	51	0.00	0	C	NM_003660		49652821	49652821	+1	no_errors	ENST00000334186	ensembl	human	known	69_37n	silent	34	33.33	17	SNP	1.000	T
PPIL6	285755	genome.wustl.edu	37	6	109757394	109757394	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:109757394C>G	ENST00000521072.2	-	2	724	c.144G>C	c.(142-144)aaG>aaC	p.K48N	PPIL6_ENST00000440797.2_Missense_Mutation_p.K48N|AL109947.1_ENST00000459391.1_RNA|PPIL6_ENST00000424445.2_Intron	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	48					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		GATGATTATTCTTCAGATTCT	0.308																																						dbGAP											0													69.0	73.0	72.0					6																	109757394		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"""radial spoke 12 homolog (Chlamydomonas)"""						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.144G>C	6.37:g.109757394C>G	ENSP00000427929:p.Lys48Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A9NIU0|A9NIU9|E7EX15	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	p.K48N	ENST00000521072.2	37	c.144	CCDS5074.1	6	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977103	0.53720	.	.	ENSG00000185250	ENST00000440797;ENST00000521072	T;T	0.22336	1.96;1.97	5.48	4.6	0.57074	.	0.054810	0.64402	D	0.000001	T	0.25158	0.0611	M	0.75264	2.295	0.80722	D	1	D;D	0.65815	0.995;0.991	P;P	0.54060	0.741;0.741	T	0.07046	-1.0793	10	0.87932	D	0	-14.6379	10.5983	0.45352	0.0:0.908:0.0:0.092	.	48;48	A9NIU9;Q8IXY8	.;PPIL6_HUMAN	N	48	ENSP00000392257:K48N;ENSP00000427929:K48N	ENSP00000392257:K48N	K	-	3	2	PPIL6	109864087	0.950000	0.32346	0.878000	0.34440	0.690000	0.40134	1.924000	0.40065	1.288000	0.44600	0.655000	0.94253	AAG	PPIL6	-	NULL	ENSG00000185250		0.308	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL6	HGNC	protein_coding	OTTHUMT00000089003.4	45	0.00	0	C			109757394	109757394	-1	no_errors	ENST00000521072	ensembl	human	known	69_37n	missense	37	31.48	17	SNP	0.851	G
PPL	5493	genome.wustl.edu	37	16	4934664	4934664	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:4934664G>A	ENST00000345988.2	-	22	4081	c.3992C>T	c.(3991-3993)tCc>tTc	p.S1331F	PPL_ENST00000590782.2_Missense_Mutation_p.S1329F	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1331					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTCTTCCTGGGAAGCTCTTTC	0.577																																						dbGAP											0													175.0	184.0	181.0					16																	4934664		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3992C>T	16.37:g.4934664G>A	ENSP00000340510:p.Ser1331Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.S1331F	ENST00000345988.2	37	c.3992	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	G	5.415	0.261823	0.10239	.	.	ENSG00000118898	ENST00000345988	T	0.44881	0.91	5.45	4.47	0.54385	.	0.654236	0.15300	N	0.269673	T	0.22898	0.0553	N	0.08118	0	0.09310	N	1	P	0.37038	0.579	B	0.36378	0.223	T	0.08493	-1.0719	10	0.56958	D	0.05	.	7.7354	0.28810	0.1107:0.1635:0.7258:0.0	.	1331	O60437	PEPL_HUMAN	F	1331	ENSP00000340510:S1331F	ENSP00000340510:S1331F	S	-	2	0	PPL	4874665	0.214000	0.23563	0.088000	0.20740	0.018000	0.09664	1.289000	0.33307	1.268000	0.44264	0.655000	0.94253	TCC	PPL	-	NULL	ENSG00000118898		0.577	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	51	0.00	0	G	NM_002705		4934664	4934664	-1	no_errors	ENST00000345988	ensembl	human	known	69_37n	missense	43	37.68	26	SNP	0.065	A
PPP1R32	220004	genome.wustl.edu	37	11	61250191	61250191	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:61250191G>A	ENST00000338608.2	+	4	417	c.292G>A	c.(292-294)Gac>Aac	p.D98N	RP11-286N22.8_ENST00000544880.1_Intron|PPP1R32_ENST00000432063.2_Missense_Mutation_p.D98N	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	98							phosphatase binding (GO:0019902)										GGAGGTGCCTGACGGCAAGCA	0.667											OREG0021002	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													40.0	42.0	41.0					11																	61250191		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28869	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 66"""	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.292G>A	11.37:g.61250191G>A	ENSP00000344140:p.Asp98Asn	Somatic	1052	WXS	Illumina GAIIx	Phase_IV	Q4G0P4|Q96M77	Missense_Mutation	SNP	NULL	p.D98N	ENST00000338608.2	37	c.292	CCDS8008.1	11	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091974	0.76756	.	.	ENSG00000162148	ENST00000432063;ENST00000338608	T;T	0.51574	0.7;1.24	5.2	4.29	0.51040	.	0.285366	0.29752	N	0.011298	T	0.66848	0.2831	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.69146	-0.5222	10	0.62326	D	0.03	-23.3834	10.6406	0.45590	0.0905:0.0:0.9095:0.0	.	98;98	Q7Z5V6-2;Q7Z5V6	.;PPR32_HUMAN	N	98	ENSP00000391560:D98N;ENSP00000344140:D98N	ENSP00000344140:D98N	D	+	1	0	C11orf66	61006767	0.983000	0.35010	0.017000	0.16124	0.024000	0.10985	3.566000	0.53805	1.180000	0.42898	0.655000	0.94253	GAC	PPP1R32	-	NULL	ENSG00000162148		0.667	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R32	HGNC	protein_coding	OTTHUMT00000398621.1	84	0.00	0	G	NM_145017		61250191	61250191	+1	no_errors	ENST00000338608	ensembl	human	known	69_37n	missense	86	21.10	23	SNP	0.801	A
PPP1CA	5499	genome.wustl.edu	37	11	67168587	67168587	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:67168587G>A	ENST00000376745.4	-	2	287	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L	TBC1D10C_ENST00000526387.1_5'Flank|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000358239.4_Intron|TBC1D10C_ENST00000312390.5_5'Flank|PPP1CA_ENST00000312989.7_Silent_p.L58L	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	47					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GGCTGGCTCAGAAAAATCTCC	0.617																																						dbGAP											0													55.0	63.0	60.0					11																	67168587		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0				CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9281	protein-coding gene	gene with protein product		176875	"""protein phosphatase 1, catalytic subunit, alpha isoform"""	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.139C>T	11.37:g.67168587G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Silent	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.L58	ENST00000376745.4	37	c.172	CCDS8160.1	11																																																																																			PPP1CA	-	smart_Ser/Thr-sp_prot-phosphatase	ENSG00000172531		0.617	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1CA	HGNC	protein_coding	OTTHUMT00000395487.1	26	0.00	0	G	NM_002708		67168587	67168587	-1	no_errors	ENST00000312989	ensembl	human	known	69_37n	silent	29	30.95	13	SNP	1.000	A
PPP2R4	5524	genome.wustl.edu	37	9	131898844	131898844	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:131898844C>T	ENST00000337738.1	+	8	1027	c.760C>T	c.(760-762)Ccc>Tcc	p.P254S	PPP2R4_ENST00000348141.5_Missense_Mutation_p.P225S|PPP2R4_ENST00000357197.4_Missense_Mutation_p.P190S|PPP2R4_ENST00000423100.1_5'Flank|PPP2R4_ENST00000355007.3_Missense_Mutation_p.P177S|PPP2R4_ENST00000393370.2_Missense_Mutation_p.P219S|PPP2R4_ENST00000524946.2_5'Flank|PPP2R4_ENST00000452489.2_Missense_Mutation_p.P254S|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000358994.4_Missense_Mutation_p.P219S	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	254					ATP catabolic process (GO:0006200)|mitotic spindle organization in nucleus (GO:0030472)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of protein dephosphorylation (GO:0035308)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein dephosphorylation (GO:0035307)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of phosphoprotein phosphatase activity (GO:0043666)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	ATP binding (GO:0005524)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein tyrosine phosphatase activator activity (GO:0008160)|receptor binding (GO:0005102)			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CCAGTTTCTGCCCTTCATCTG	0.597																																					Colon(158;2158 2504 4450 20433)	dbGAP											0													150.0	160.0	156.0					9																	131898844		2203	4300	6503	-	-	-	SO:0001583	missense	0			X73478	CCDS6920.1, CCDS65156.1, CCDS75917.1	9q34	2010-06-18	2007-01-22		ENSG00000119383	ENSG00000119383		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9308	protein-coding gene	gene with protein product	"""phosphotyrosyl phosphatase activator"", ""PP2A phosphatase activator"""	600756	"""protein phosphatase 2A, regulatory subunit B' (PR 53)"""			8530035	Standard	NM_021131		Approved	PTPA, PR53	uc004bxm.2	Q15257	OTTHUMG00000020774	ENST00000337738.1:c.760C>T	9.37:g.131898844C>T	ENSP00000337448:p.Pro254Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A347|A9IZU4|B4DXM4|Q15258|Q53GZ3|Q5TZQ2|Q9BUK1|Q9NNZ7|Q9NNZ8|Q9NNZ9	Missense_Mutation	SNP	pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac	p.P254S	ENST00000337738.1	37	c.760		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	30|30	5.051963|5.051963	0.93793|0.93793	.|.	.|.	ENSG00000119383|ENSG00000119383	ENST00000455240|ENST00000358994;ENST00000393370;ENST00000337738;ENST00000348141;ENST00000452489;ENST00000357197;ENST00000355007;ENST00000417728	.|T;T;T;T;T;T;T;T	.|0.55930	.|0.49;0.49;0.49;0.49;0.49;0.49;0.49;1.22	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.050119	.|0.85682	.|D	.|0.000000	T|T	0.74176|0.74176	0.3682|0.3682	M|M	0.85462|0.85462	2.755|2.755	0.80722|0.80722	D|D	1|1	.|D;P;D;D;P;D	.|0.60575	.|0.988;0.945;0.977;0.969;0.95;0.982	.|D;P;D;P;P;P	.|0.65323	.|0.934;0.721;0.934;0.728;0.817;0.739	T|T	0.77950|0.77950	-0.2395|-0.2395	5|10	.|0.59425	.|D	.|0.04	-23.7919|-23.7919	16.371|16.371	0.83361|0.83361	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|177;190;254;177;254;219	.|B4DLX5;Q15257-3;B4DZF8;Q15257-4;Q15257;Q15257-2	.|.;.;.;.;PTPA_HUMAN;.	V|S	32|219;219;254;225;254;190;177;184	.|ENSP00000351885:P219S;ENSP00000377036:P219S;ENSP00000337448:P254S;ENSP00000335200:P225S;ENSP00000394338:P254S;ENSP00000349726:P190S;ENSP00000347109:P177S;ENSP00000403542:P184S	.|ENSP00000337448:P254S	A|P	+|+	2|1	0|0	PPP2R4|PPP2R4	130938665|130938665	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.783000|7.783000	0.85696|0.85696	2.537000|2.537000	0.85549|0.85549	0.557000|0.557000	0.71058|0.71058	GCC|CCC	PPP2R4	-	pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac	ENSG00000119383		0.597	PPP2R4-201	KNOWN	basic	protein_coding	PPP2R4	HGNC	protein_coding		68	0.00	0	C	NM_021131		131898844	131898844	+1	no_errors	ENST00000452489	ensembl	human	known	69_37n	missense	58	13.43	9	SNP	1.000	T
PPP2R5C	5527	genome.wustl.edu	37	14	102349833	102349833	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:102349833G>A	ENST00000334743.5	+	5	611	c.563G>A	c.(562-564)aGa>aAa	p.R188K	PPP2R5C_ENST00000328724.5_Missense_Mutation_p.R243K|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.R188K|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.R219K|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.R188K|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.R188K	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	188					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						ACCCTTCACAGAATCTATGGG	0.403																																						dbGAP											0													78.0	87.0	84.0					14																	102349833		2197	4298	6495	-	-	-	SO:0001583	missense	0			L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.563G>A	14.37:g.102349833G>A	ENSP00000333905:p.Arg188Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.R219K	ENST00000334743.5	37	c.656	CCDS9964.1	14	.	.	.	.	.	.	.	.	.	.	G	31	5.101023	0.94245	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334756;ENST00000557621;ENST00000445439;ENST00000334743;ENST00000557095	T;T;T;T;T	0.55234	0.54;0.54;0.53;0.59;0.57	4.62	4.62	0.57501	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81702	0.4878	H	0.96333	3.805	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.998;1.0;0.995;1.0	D;D;D;D;D;D	0.91635	0.995;0.98;0.96;0.997;0.946;0.999	D	0.88446	0.3045	10	0.87932	D	0	-20.0554	17.8539	0.88756	0.0:0.0:1.0:0.0	.	219;86;188;188;188;243	F5GWP3;E9PHN5;Q13362-3;Q13362;Q13362-2;Q6ZN33	.;.;.;2A5G_HUMAN;.;.	K	219;243;217;188;86;157;188;188;188	ENSP00000412324:R219K;ENSP00000329009:R243K;ENSP00000450931:R217K;ENSP00000262239:R188K;ENSP00000333905:R188K	ENSP00000329009:R243K	R	+	2	0	PPP2R5C	101419586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.781000	0.99029	2.284000	0.76573	0.655000	0.94253	AGA	PPP2R5C	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	ENSG00000078304		0.403	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5C	HGNC	protein_coding	OTTHUMT00000414373.2	65	0.00	0	G	NM_002719		102349833	102349833	+1	no_errors	ENST00000422945	ensembl	human	known	69_37n	missense	42	22.22	12	SNP	1.000	A
PPP4R1L	55370	genome.wustl.edu	37	20	56838576	56838576	+	Intron	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:56838576C>T	ENST00000334187.8	-	5	449				PPP4R1L_ENST00000462333.1_5'UTR|PPP4R1L_ENST00000244070.3_Intron			Q9P1A2	PP4RL_HUMAN	protein phosphatase 4, regulatory subunit 1-like																		TTGATTTTCTCACCCAGAAGG	0.493																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF119843		20q13.32	2013-03-28			ENSG00000124224	ENSG00000124224			15755	other	unknown				C20orf192		14702039, 11780052	Standard	NR_003505		Approved	bA196N14.4, bA196N14.5	uc002xyy.1	Q9P1A2	OTTHUMG00000032838	ENST00000334187.8:c.435+7842G>A	20.37:g.56838576C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRM4|Q96LY6|Q9BZ17|Q9BZ18	RNA	SNP	-	NULL	ENST00000334187.8	37	NULL		20																																																																																			PPP4R1L	-	-	ENSG00000124224		0.493	PPP4R1L-201	KNOWN	basic|appris_candidate_longest	protein_coding	PPP4R1L	HGNC	protein_coding		21	0.00	0	C	NR_003505		56838576	56838576	-1	no_errors	ENST00000462333	ensembl	human	known	69_37n	rna	18	18.18	4	SNP	0.988	T
PPP5C	5536	genome.wustl.edu	37	19	46878932	46878932	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:46878932G>C	ENST00000012443.4	+	3	538	c.435G>C	c.(433-435)caG>caC	p.Q145H	PPP5C_ENST00000391919.1_Missense_Mutation_p.Q39H	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	145					cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TCGTGAAGCAGAAGGCCTTTG	0.592																																						dbGAP											0													70.0	56.0	61.0					19																	46878932		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.435G>C	19.37:g.46878932G>C	ENSP00000012443:p.Gln145His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16722|Q53XV2	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pfam_PPP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase	p.Q145H	ENST00000012443.4	37	c.435	CCDS12684.1	19	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661950	0.67700	.	.	ENSG00000011485	ENST00000012443;ENST00000451918;ENST00000391919	T;T	0.32023	1.47;1.47	3.3	3.3	0.37823	Tetratricopeptide-like helical (1);Serine/threonine phosphatase, PPP5 (1);	0.671060	0.14612	N	0.308957	T	0.49098	0.1537	M	0.76574	2.34	0.58432	D	0.999999	D;D	0.58970	0.984;0.984	P;P	0.56823	0.76;0.807	T	0.55897	-0.8068	10	0.87932	D	0	-18.259	12.8775	0.57998	0.0:0.0:1.0:0.0	.	145;145	B2R6R6;P53041	.;PPP5_HUMAN	H	145;132;39	ENSP00000012443:Q145H;ENSP00000375786:Q39H	ENSP00000012443:Q145H	Q	+	3	2	PPP5C	51570772	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	4.220000	0.58567	2.148000	0.66965	0.561000	0.74099	CAG	PPP5C	-	pfam_PPP_dom,pirsf_Ser/Thr_PPase_5	ENSG00000011485		0.592	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP5C	HGNC	protein_coding	OTTHUMT00000258969.2	43	0.00	0	G	NM_006247		46878932	46878932	+1	no_errors	ENST00000012443	ensembl	human	known	69_37n	missense	40	13.04	6	SNP	1.000	C
NPY4R	5540	genome.wustl.edu	37	10	47087782	47087782	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr10:47087782C>G	ENST00000395716.1	+	2	1084	c.999C>G	c.(997-999)atC>atG	p.I333M	NPY4R_ENST00000374312.1_Missense_Mutation_p.I333M			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	333					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										AGAAGGAGATCAAGGCCCTGG	0.557																																						dbGAP											0													162.0	158.0	159.0					10																	47087782		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.999C>G	10.37:g.47087782C>G	ENSP00000379066:p.Ile333Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_NPY4_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.I333M	ENST00000395716.1	37	c.999	CCDS31193.1	10	.	.	.	.	.	.	.	.	.	.	C	8.208	0.799653	0.16397	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.55413	0.52;0.52	4.96	2.93	0.34026	.	0.639345	0.15549	N	0.256555	T	0.31358	0.0794	N	0.12182	0.205	0.33110	D	0.54043	B	0.14012	0.009	B	0.12156	0.007	T	0.34079	-0.9843	10	0.48119	T	0.1	.	6.9106	0.24333	0.0:0.5918:0.3058:0.1024	.	333	P50391	NPY4R_HUMAN	M	333	ENSP00000363431:I333M;ENSP00000379066:I333M	ENSP00000363431:I333M	I	+	3	3	PPYR1	46507788	1.000000	0.71417	0.999000	0.59377	0.642000	0.38348	0.753000	0.26376	1.243000	0.43853	-0.137000	0.14449	ATC	PPYR1	-	pfam_7TM_GPCR_olfarory/Srsx,prints_NPY4_rcpt,prints_NPY_rcpt	ENSG00000204174		0.557	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPYR1	HGNC	protein_coding	OTTHUMT00000047837.1	112	0.00	0	C			47087782	47087782	+1	no_errors	ENST00000374312	ensembl	human	known	69_37n	missense	136	10.53	16	SNP	1.000	G
PRAMEF18	391003	genome.wustl.edu	37	1	13474917	13474917	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:13474917C>T	ENST00000376126.2	-	3	1211	c.1212G>A	c.(1210-1212)ctG>ctA	p.L404L		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	404					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAAATTGCTCAGCCTGCCTG	0.577																																						dbGAP											0													7.0	8.0	8.0					1																	13474917		1898	3962	5860	-	-	-	SO:0001819	synonymous_variant	0					1p36.21	2013-01-17			ENSG00000204491			"""-"""	30693	protein-coding gene	gene with protein product							Standard			Approved	OTTHUMG00000002932		Q5VWM3	OTTHUMG00000002932	ENST00000376126.2:c.1212G>A	1.37:g.13474917C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.L404	ENST00000376126.2	37	c.1212	CCDS41258.1	1																																																																																			PRAMEF18	-	NULL	ENSG00000204491		0.577	PRAMEF18-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PRAMEF18	HGNC	protein_coding	OTTHUMT00000008177.2	52	0.00	0	C	NM_001099850		13474917	13474917	-1	no_errors	ENST00000376126	ensembl	human	known	69_37n	silent	60	11.76	8	SNP	0.002	T
PRMT2	3275	genome.wustl.edu	37	21	48071892	48071892	+	Intron	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr21:48071892C>G	ENST00000397637.1	+	6	1608				PRMT2_ENST00000451211.2_Intron|PRMT2_ENST00000397638.2_Intron|PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000440086.1_Intron|PRMT2_ENST00000355680.3_Intron|PRMT2_ENST00000458387.2_Intron|PRMT2_ENST00000334494.4_Missense_Mutation_p.L277V			P55345	ANM2_HUMAN	protein arginine methyltransferase 2						developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		AGGCCTTCATCTCTCCTGGCC	0.552																																						dbGAP											0													79.0	72.0	74.0					21																	48071892		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"""Protein arginine methyltransferases"""	5186	protein-coding gene	gene with protein product		601961	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1"", ""HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"""	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.654+2241C>G	21.37:g.48071892C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.L277V	ENST00000397637.1	37	c.829	CCDS13737.1	21	.	.	.	.	.	.	.	.	.	.	.	7.191	0.591610	0.13812	.	.	ENSG00000160310	ENST00000334494	T	0.67345	-0.26	0.852	0.852	0.18995	.	.	.	.	.	T	0.61009	0.2313	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.56366	-0.7991	6	0.87932	D	0	.	5.0168	0.14341	0.0:1.0:0.0:0.0	.	.	.	.	V	277	ENSP00000335490:L277V	ENSP00000335490:L277V	L	+	1	0	PRMT2	46896320	0.006000	0.16342	0.003000	0.11579	0.234000	0.25298	0.923000	0.28757	0.756000	0.33013	0.313000	0.20887	CTC	PRMT2	-	NULL	ENSG00000160310		0.552	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRMT2	HGNC	protein_coding	OTTHUMT00000207401.1	57	0.00	0	C	NM_001535		48071892	48071892	+1	no_errors	ENST00000334494	ensembl	human	novel	69_37n	missense	63	22.89	19	SNP	0.004	G
PROM1	8842	genome.wustl.edu	37	4	15995622	15995622	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:15995622G>A	ENST00000510224.1	-	16	2003	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L	PROM1_ENST00000505450.1_Silent_p.L576L|PROM1_ENST00000508167.1_Silent_p.L576L|PROM1_ENST00000540805.1_Silent_p.L585L|PROM1_ENST00000543373.1_Silent_p.L576L|PROM1_ENST00000447510.2_Silent_p.L585L|PROM1_ENST00000539194.1_Silent_p.L585L			O43490	PROM1_HUMAN	prominin 1	585					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						CATTAATGTTGAGATGTTCAC	0.383																																						dbGAP											0													219.0	216.0	217.0					4																	15995622		1909	4130	6039	-	-	-	SO:0001819	synonymous_variant	0			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1755C>T	4.37:g.15995622G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Silent	SNP	pfam_Prominin	p.L585	ENST00000510224.1	37	c.1755	CCDS47029.1	4																																																																																			PROM1	-	pfam_Prominin	ENSG00000007062		0.383	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROM1	HGNC	protein_coding	OTTHUMT00000359595.2	37	0.00	0	G	NM_006017		15995622	15995622	-1	no_errors	ENST00000447510	ensembl	human	known	69_37n	silent	37	13.95	6	SNP	0.974	A
PRPF19	27339	genome.wustl.edu	37	11	60668823	60668823	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:60668823C>G	ENST00000227524.4	-	8	791	c.586G>C	c.(586-588)Gag>Cag	p.E196Q		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19											haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						ACCAGCTCCTCAGGCACAGTC	0.552																																						dbGAP											0													56.0	54.0	55.0					11																	60668823		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.586G>C	11.37:g.60668823C>G	ENSP00000227524:p.Glu196Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Pre-mRNA_splic_Prp19,pfam_Ubox_domain,superfamily_WD40_repeat_dom,smart_Ubox_domain,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E196Q	ENST00000227524.4	37	c.586	CCDS7995.1	11	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924947	0.92319	.	.	ENSG00000110107	ENST00000227524;ENST00000540473;ENST00000541371	T	0.62105	0.05	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.66177	0.2763	M	0.70595	2.14	0.80722	D	1	P	0.39326	0.668	B	0.38106	0.265	T	0.68743	-0.5328	10	0.54805	T	0.06	-36.8311	19.9089	0.97019	0.0:1.0:0.0:0.0	.	196	Q9UMS4	PRP19_HUMAN	Q	196;25;196	ENSP00000227524:E196Q	ENSP00000227524:E196Q	E	-	1	0	PRPF19	60425399	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.259000	0.78381	2.793000	0.96121	0.655000	0.94253	GAG	PRPF19	-	NULL	ENSG00000110107		0.552	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF19	HGNC	protein_coding	OTTHUMT00000396334.1	83	0.00	0	C	NM_014502		60668823	60668823	-1	no_errors	ENST00000227524	ensembl	human	known	69_37n	missense	50	10.71	6	SNP	1.000	G
PRPS2	5634	genome.wustl.edu	37	X	12840921	12840921	+	3'UTR	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:12840921G>A	ENST00000380668.5	+	0	1091				PRPS2_ENST00000398491.2_3'UTR	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2						5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TATAAATCCAGAATGGGAAGT	0.448																																						dbGAP											0													115.0	79.0	91.0					X																	12840921		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.*6G>A	X.37:g.12840921G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VDH9|Q0VDI0|Q15245|Q2TAK7	RNA	SNP	-	NULL	ENST00000380668.5	37	NULL	CCDS14150.1	X																																																																																			PRPS2	-	-	ENSG00000101911		0.448	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRPS2	HGNC	protein_coding	OTTHUMT00000055772.2	47	0.00	0	G	NM_002765		12840921	12840921	+1	no_errors	ENST00000460102	ensembl	human	known	69_37n	rna	48	14.29	8	SNP	0.000	A
PRR14	78994	genome.wustl.edu	37	16	30663158	30663158	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:30663158G>A	ENST00000542965.2	+	2	521	c.65G>A	c.(64-66)cGa>cAa	p.R22Q	PRR14_ENST00000300835.4_Missense_Mutation_p.R22Q			Q9BWN1	PRR14_HUMAN	proline rich 14	22										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCTCTGACTCGAGCATTATGG	0.682																																						dbGAP											0													36.0	45.0	42.0					16																	30663158		2129	4218	6347	-	-	-	SO:0001583	missense	0			AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.65G>A	16.37:g.30663158G>A	ENSP00000441641:p.Arg22Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WTX2	Missense_Mutation	SNP	NULL	p.R22Q	ENST00000542965.2	37	c.65	CCDS10687.1	16	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871977	0.91587	.	.	ENSG00000156858	ENST00000300835;ENST00000542965	T;T	0.60548	0.18;0.18	5.38	5.38	0.77491	.	0.317648	0.22424	N	0.060252	T	0.69242	0.3089	M	0.64997	1.995	0.24644	N	0.993559	D	0.71674	0.998	P	0.58780	0.845	T	0.64580	-0.6374	10	0.62326	D	0.03	-0.2902	14.632	0.68663	0.0:0.0:1.0:0.0	.	22	Q9BWN1	PRR14_HUMAN	Q	22	ENSP00000300835:R22Q;ENSP00000441641:R22Q	ENSP00000300835:R22Q	R	+	2	0	PRR14	30570659	1.000000	0.71417	0.755000	0.31263	0.944000	0.59088	3.057000	0.49931	2.535000	0.85469	0.455000	0.32223	CGA	PRR14	-	NULL	ENSG00000156858		0.682	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR14	HGNC	protein_coding	OTTHUMT00000434433.1	89	0.00	0	G	NM_024031		30663158	30663158	+1	no_errors	ENST00000300835	ensembl	human	known	69_37n	missense	88	27.64	34	SNP	0.506	A
PRRG3	79057	genome.wustl.edu	37	X	150873749	150873749	+	3'UTR	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:150873749C>T	ENST00000370353.3	+	0	5330							Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)							extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGATGCTTCGCTGTCAGAC	0.403																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.*4244C>T	X.37:g.150873749C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A523|A1A575|Q8N2N6	Silent	SNP	NULL	p.F51	ENST00000370353.3	37	c.153	CCDS14699.1	X																																																																																			PRRG3	-	NULL	ENSG00000130032		0.403	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG3	HGNC	protein_coding	OTTHUMT00000060880.1	66	0.00	0	C	NM_024082		150873749	150873749	+1	no_start_codon	ENST00000448324	ensembl	human	known	69_37n	silent	51	12.07	7	SNP	0.000	T
PRUNE2	158471	genome.wustl.edu	37	9	79322053	79322053	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:79322053C>T	ENST00000376718.3	-	8	5260	c.5137G>A	c.(5137-5139)Gaa>Aaa	p.E1713K	PRUNE2_ENST00000428286.1_Missense_Mutation_p.E1354K	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1713					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						GCTCTGGATTCATCCTCAGCA	0.448																																						dbGAP											0													100.0	85.0	90.0					9																	79322053		1568	3582	5150	-	-	-	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5137G>A	9.37:g.79322053C>T	ENSP00000365908:p.Glu1713Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.E1354K	ENST00000376718.3	37	c.4060	CCDS47982.1	9	.	.	.	.	.	.	.	.	.	.	C	5.564	0.288881	0.10513	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.54279	0.58;0.59	5.83	2.91	0.33838	.	0.851520	0.10242	N	0.698231	T	0.47377	0.1442	L	0.57536	1.79	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.40478	-0.9561	10	0.46703	T	0.11	-1.287	7.1476	0.25591	0.0:0.6141:0.0:0.3859	.	1713	Q8WUY3	PRUN2_HUMAN	K	1713;1354;1712	ENSP00000365908:E1713K;ENSP00000397425:E1354K	ENSP00000365908:E1713K	E	-	1	0	PRUNE2	78511873	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.033000	0.12246	0.336000	0.23639	0.655000	0.94253	GAA	PRUNE2	-	NULL	ENSG00000106772		0.448	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	38	0.00	0	C	NM_138818		79322053	79322053	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	missense	42	14.29	7	SNP	0.000	T
KIAA0391	9692	genome.wustl.edu	37	14	35782079	35782079	+	Intron	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:35782079C>G	ENST00000557565.1	+	13	3357				PSMA6_ENST00000556506.1_Intron|PSMA6_ENST00000555764.1_Intron|PSMA6_ENST00000261479.4_Intron|PSMA6_ENST00000553809.1_Silent_p.L140L|PSMA6_ENST00000540871.1_Intron	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391						tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		GGTCTTTTCTCTTTTTAGGTA	0.388																																						dbGAP											0													80.0	92.0	88.0					14																	35782079		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.1750-8C>G	14.37:g.35782079C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Silent	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.L140	ENST00000557565.1	37	c.420	CCDS32063.1	14																																																																																			PSMA6	-	pfam_Proteasome_sua/b	ENSG00000100902		0.388	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	PSMA6	HGNC	protein_coding	OTTHUMT00000411280.1	34	0.00	0	C	NM_014672		35782079	35782079	+1	no_errors	ENST00000553809	ensembl	human	novel	69_37n	silent	37	17.78	8	SNP	0.014	G
PTCH2	8643	genome.wustl.edu	37	1	45289025	45289025	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:45289025C>T	ENST00000372192.3	-	20	3277	c.3147G>A	c.(3145-3147)ctG>ctA	p.L1049L	PTCH2_ENST00000447098.2_Silent_p.L1049L	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1049					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGGCGGCCCGCAGGTTCCGGC	0.622									Basal Cell Nevus syndrome																													dbGAP											0													47.0	52.0	50.0					1																	45289025		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.3147G>A	1.37:g.45289025C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.L1049	ENST00000372192.3	37	c.3147	CCDS516.1	1																																																																																			PTCH2	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000117425		0.622	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCH2	HGNC	protein_coding	OTTHUMT00000023428.4	35	0.00	0	C	NM_003738		45289025	45289025	-1	no_errors	ENST00000372192	ensembl	human	known	69_37n	silent	27	15.62	5	SNP	0.994	T
PTPRR	5801	genome.wustl.edu	37	12	71029497	71029497	+	IGR	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:71029497G>A	ENST00000283228.2	-	0	3529				PTPRB_ENST00000334414.6_Silent_p.V135V|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Silent_p.V134V|PTPRB_ENST00000550358.1_Silent_p.V135V|PTPRR_ENST00000537619.2_5'Flank	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CCTCCTTGTTGACATCTATTT	0.418																																						dbGAP											0													74.0	69.0	71.0					12																	71029497		1866	4115	5981	-	-	-	SO:0001628	intergenic_variant	0			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502		12.37:g.71029497G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Silent	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.V135	ENST00000283228.2	37	c.405	CCDS8998.1	12																																																																																			PTPRB	-	superfamily_Ricin_B_lectin	ENSG00000127329		0.418	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404485.1	37	0.00	0	G	NM_002849		71029497	71029497	-1	no_errors	ENST00000334414	ensembl	human	known	69_37n	silent	46	24.59	15	SNP	0.998	A
PVT1	5820	genome.wustl.edu	37	8	128808275	128808275	+	RNA	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:128808275C>G	ENST00000408388.1	+	0	134					NR_031609.1				Pvt1 oncogene (non-protein coding)																		GCCTCGTGGTCTAAAGCTTCG	0.493																																						dbGAP											0													91.0	89.0	90.0					8																	128808275		692	1591	2283	-	-	-			0			M31519		8q24	2014-07-18	2008-09-02		ENSG00000249859	ENSG00000249859		"""-"""	9709	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 79"", ""long intergenic non-protein coding RNA 79"""	165140	"""pvt-1 (murine) oncogene homolog, MYC activator"", ""Pvt1 oncogene homolog (mouse)"""			17503467, 23801869	Standard	NR_003367		Approved	NCRNA00079, LINC00079	uc003ysl.3		OTTHUMG00000164871		8.37:g.128808275C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000408388.1	37	NULL		8																																																																																			PVT1	-	-	ENSG00000249859		0.493	PVT1-201	KNOWN	basic	miRNA	PVT1	HGNC	processed_transcript		38	0.00	0	C	NR_003367		128808275	128808275	+1	no_errors	ENST00000518528	ensembl	human	known	69_37n	rna	27	27.03	10	SNP	0.000	G
RAB3D	9545	genome.wustl.edu	37	19	11446153	11446153	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:11446153C>T	ENST00000222120.3	-	4	702	c.442G>A	c.(442-444)Gag>Aag	p.E148K	RAB3D_ENST00000589655.1_Missense_Mutation_p.E148K	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	148					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.E148K(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						CGGCCATCCTCAGCAGGCACA	0.612																																						dbGAP											1	Substitution - Missense(1)	cervix(1)											82.0	66.0	72.0					19																	11446153		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"""RAB, member RAS oncogene"""	9779	protein-coding gene	gene with protein product	"""Rab3D upregulated with myeloid differentiation"", ""glioblastoma overexpressed"""	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.442G>A	19.37:g.11446153C>T	ENSP00000222120:p.Glu148Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E148K	ENST00000222120.3	37	c.442	CCDS12257.1	19	.	.	.	.	.	.	.	.	.	.	C	31	5.079676	0.94050	.	.	ENSG00000105514	ENST00000222120	T	0.78126	-1.15	4.62	4.62	0.57501	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83339	0.5233	L	0.54965	1.715	0.80722	D	1	P	0.35208	0.49	P	0.50970	0.655	D	0.84339	0.0526	10	0.62326	D	0.03	.	16.747	0.85475	0.0:1.0:0.0:0.0	.	148	O95716	RAB3D_HUMAN	K	148	ENSP00000222120:E148K	ENSP00000222120:E148K	E	-	1	0	RAB3D	11307153	1.000000	0.71417	0.952000	0.39060	0.688000	0.40055	7.535000	0.82014	2.575000	0.86900	0.448000	0.29417	GAG	RAB3D	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000105514		0.612	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3D	HGNC	protein_coding	OTTHUMT00000453211.1	40	0.00	0	C	NM_004283		11446153	11446153	-1	no_errors	ENST00000222120	ensembl	human	known	69_37n	missense	67	10.67	8	SNP	1.000	T
RAB3GAP2	25782	genome.wustl.edu	37	1	220335565	220335565	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:220335565G>A	ENST00000358951.2	-	28	3316	c.3200C>T	c.(3199-3201)tCt>tTt	p.S1067F		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1067					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TGTAGCAGCAGAAAATCTTTT	0.289																																						dbGAP											0													127.0	123.0	124.0					1																	220335565		2203	4296	6499	-	-	-	SO:0001583	missense	0			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.3200C>T	1.37:g.220335565G>A	ENSP00000351832:p.Ser1067Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.S1067F	ENST00000358951.2	37	c.3200	CCDS31028.1	1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965725	0.92855	.	.	ENSG00000118873	ENST00000358951	T	0.33438	1.41	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.50466	-0.8825	10	0.56958	D	0.05	.	19.5641	0.95386	0.0:0.0:1.0:0.0	.	1067;1067	Q9H2M9;A6H8V0	RBGPR_HUMAN;.	F	1067	ENSP00000351832:S1067F	ENSP00000351832:S1067F	S	-	2	0	RAB3GAP2	218402188	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.374000	0.97172	2.619000	0.88677	0.591000	0.81541	TCT	RAB3GAP2	-	NULL	ENSG00000118873		0.289	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	34	0.00	0	G	NM_012414		220335565	220335565	-1	no_errors	ENST00000358951	ensembl	human	known	69_37n	missense	37	26.00	13	SNP	1.000	A
RAB43	339122	genome.wustl.edu	37	3	128810100	128810100	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:128810100C>G	ENST00000315150.5	-	3	778	c.478G>C	c.(478-480)Gag>Cag	p.E160Q	RAB43_ENST00000393305.1_Missense_Mutation_p.E160Q|RAB43_ENST00000393308.1_Missense_Mutation_p.E160Q|ISY1-RAB43_ENST00000418265.1_3'UTR|RAB43_ENST00000476465.1_3'UTR|RAB43_ENST00000393304.1_Missense_Mutation_p.E160Q|RAB43_ENST00000393307.1_Missense_Mutation_p.E160Q	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	160					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(2)|liver(1)|lung(2)|skin(1)	6						GCAGACGTCTCAATGGCACAC	0.612																																						dbGAP											0													20.0	18.0	19.0					3																	128810100		2202	4276	6478	-	-	-	SO:0001583	missense	0			AY166852	CCDS33850.1, CCDS56275.1	3q21.3	2010-03-30			ENSG00000172780	ENSG00000172780		"""RAB, member RAS oncogene"""	19983	protein-coding gene	gene with protein product						15018353	Standard	NM_198490		Approved	RAB41, RAB11B, ISY1	uc021xdp.1	Q86YS6	OTTHUMG00000137364	ENST00000315150.5:c.478G>C	3.37:g.128810100C>G	ENSP00000319781:p.Glu160Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4P9|E9PBQ0	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E160Q	ENST00000315150.5	37	c.478	CCDS33850.1	3	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279512	0.80692	.	.	ENSG00000172780	ENST00000315150;ENST00000393304;ENST00000393308;ENST00000393307;ENST00000393305	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	4.88	4.88	0.63580	Small GTP-binding protein domain (1);	.	.	.	.	D	0.93197	0.7833	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94845	0.8008	9	0.87932	D	0	.	15.8666	0.79069	0.0:1.0:0.0:0.0	.	160	Q86YS6	RAB43_HUMAN	Q	160	ENSP00000319781:E160Q;ENSP00000376981:E160Q;ENSP00000376985:E160Q;ENSP00000376984:E160Q;ENSP00000376982:E160Q	ENSP00000319781:E160Q	E	-	1	0	RAB43	130292790	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	5.587000	0.67510	2.409000	0.81822	0.491000	0.48974	GAG	RAB43	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000172780		0.612	RAB43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB43	HGNC	protein_coding	OTTHUMT00000267849.1	35	0.00	0	C	XM_290714		128810100	128810100	-1	no_errors	ENST00000315150	ensembl	human	known	69_37n	missense	42	16.00	8	SNP	1.000	G
RAD23A	5886	genome.wustl.edu	37	19	13059579	13059579	+	Silent	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:13059579G>C	ENST00000586534.1	+	5	613	c.552G>C	c.(550-552)ctG>ctC	p.L184L	RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000592268.1_Silent_p.L184L|RAD23A_ENST00000541222.1_Silent_p.L19L|RAD23A_ENST00000316856.3_Silent_p.L184L			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	184	UBA 1. {ECO:0000255|PROSITE- ProRule:PRU00212}.				nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						TGGCCGCCCTGAGAGCCAGCT	0.637								Nucleotide excision repair (NER)																														dbGAP											0													87.0	93.0	91.0					19																	13059579		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"""RAD23, yeast homolog, A"""	600061	"""RAD23 (S. cerevisiae) homolog A"""			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.552G>C	19.37:g.13059579G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	K7ESE3|Q59EU8|Q5M7Z1	Nonstop_Mutation	SNP	pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.*26S	ENST00000586534.1	37	c.77	CCDS12289.1	19																																																																																			RAD23A	-	pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	ENSG00000179262		0.637	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAD23A	HGNC	protein_coding	OTTHUMT00000452752.1	26	0.00	0	G	NM_005053		13059579	13059579	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000586375	ensembl	human	known	69_37n	nonstop	39	11.36	5	SNP	1.000	C
RAG1	5896	genome.wustl.edu	37	11	36595236	36595236	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:36595236C>G	ENST00000299440.5	+	2	494	c.382C>G	c.(382-384)Cca>Gca	p.P128A		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	128	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CAGGAGATATCCAGTCCATGG	0.493									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	dbGAP											0													111.0	104.0	106.0					11																	36595236		2202	4298	6500	-	-	-	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.382C>G	11.37:g.36595236C>G	ENSP00000299440:p.Pro128Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING	p.P128A	ENST00000299440.5	37	c.382	CCDS7902.1	11	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825731	0.71143	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.37235	1.21;1.21	6.14	5.2	0.72013	.	0.245265	0.41396	D	0.000883	T	0.62648	0.2445	M	0.79343	2.45	0.52099	D	0.999942	D	0.71674	0.998	D	0.75484	0.986	T	0.65199	-0.6226	10	0.87932	D	0	.	17.7021	0.88298	0.0:0.8779:0.1221:0.0	.	128	P15918	RAG1_HUMAN	A	128	ENSP00000434610:P128A;ENSP00000299440:P128A	ENSP00000299440:P128A	P	+	1	0	RAG1	36551812	0.996000	0.38824	0.998000	0.56505	0.870000	0.49936	2.766000	0.47629	2.937000	0.99478	0.650000	0.86243	CCA	RAG1	-	NULL	ENSG00000166349		0.493	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG1	HGNC	protein_coding	OTTHUMT00000389535.1	47	0.00	0	C	NM_000448		36595236	36595236	+1	no_errors	ENST00000299440	ensembl	human	known	69_37n	missense	28	37.78	17	SNP	0.996	G
RALGAPB	57148	genome.wustl.edu	37	20	37150316	37150316	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:37150316G>A	ENST00000262879.6	+	10	1878	c.1594G>A	c.(1594-1596)Gag>Aag	p.E532K	RALGAPB_ENST00000397042.3_Missense_Mutation_p.E532K|RALGAPB_ENST00000397040.1_Missense_Mutation_p.E532K|RALGAPB_ENST00000397038.1_Missense_Mutation_p.E310K|RALGAPB_ENST00000537204.1_Intron			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	532					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GACTGGAGAAGAGATTCTGCC	0.388																																						dbGAP											0													139.0	132.0	134.0					20																	37150316		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1594G>A	20.37:g.37150316G>A	ENSP00000262879:p.Glu532Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.E532K	ENST00000262879.6	37	c.1594	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365037	0.61513	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	T;T	0.65549	-0.16;-0.16	5.94	5.94	0.96194	.	0.042919	0.85682	D	0.000000	T	0.56731	0.2005	L	0.46741	1.465	0.80722	D	1	B;B;B;B	0.34290	0.447;0.447;0.447;0.447	B;B;B;B	0.26969	0.075;0.075;0.075;0.075	T	0.54788	-0.8241	10	0.38643	T	0.18	.	20.3632	0.98871	0.0:0.0:1.0:0.0	.	360;532;532;532	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	K	532;532;532;310;532;360	ENSP00000262879:E532K;ENSP00000380233:E532K	ENSP00000262879:E532K	E	+	1	0	RALGAPB	36583730	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.826000	0.97356	0.561000	0.74099	GAG	RALGAPB	-	superfamily_ARM-type_fold	ENSG00000170471		0.388	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	30	0.00	0	G	NM_020336		37150316	37150316	+1	no_errors	ENST00000262879	ensembl	human	known	69_37n	missense	24	20.00	6	SNP	1.000	A
RANBP10	57610	genome.wustl.edu	37	16	67839359	67839359	+	Missense_Mutation	SNP	C	C	T	rs189620738		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:67839359C>T	ENST00000317506.3	-	2	434	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	RANBP10_ENST00000602887.1_5'UTR|TSNAXIP1_ENST00000415766.3_5'Flank|RANBP10_ENST00000425512.2_De_novo_Start_OutOfFrame|RANBP10_ENST00000536251.1_De_novo_Start_InFrame|RANBP10_ENST00000411657.2_Intron|TSNAXIP1_ENST00000388833.3_5'Flank|TSNAXIP1_ENST00000561639.1_5'Flank|RANBP10_ENST00000448631.2_Missense_Mutation_p.V107M|RANBP10_ENST00000602677.1_Missense_Mutation_p.V107M	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	107	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ACAATCTTCACTTCAAAGTAA	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		20924	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													76.0	72.0	73.0					16																	67839359		2198	4300	6498	-	-	-	SO:0001583	missense	0			AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.319G>A	16.37:g.67839359C>T	ENSP00000316589:p.Val107Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.V107M	ENST00000317506.3	37	c.319	CCDS32469.1	16	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	28.9	4.956084	0.92726	.	.	ENSG00000141084	ENST00000317506;ENST00000448631	T;T	0.73469	-0.75;-0.75	5.28	5.28	0.74379	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.86176	0.5870	M	0.75615	2.305	0.80722	D	1	D;D;D	0.76494	0.986;0.999;0.997	D;D;D	0.78314	0.93;0.991;0.967	D	0.86808	0.1996	10	0.54805	T	0.06	-4.5608	18.5113	0.90917	0.0:1.0:0.0:0.0	.	107;107;107	B4E1Y2;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	M	107	ENSP00000316589:V107M;ENSP00000392808:V107M	ENSP00000316589:V107M	V	-	1	0	RANBP10	66396860	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.694000	0.84235	2.482000	0.83794	0.655000	0.94253	GTG	RANBP10	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000141084		0.507	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP10	HGNC	protein_coding	OTTHUMT00000467896.1	50	0.00	0	C	NM_020850		67839359	67839359	-1	no_errors	ENST00000317506	ensembl	human	known	69_37n	missense	42	14.29	7	SNP	1.000	T
RAP1A	5906	genome.wustl.edu	37	1	112234037	112234037	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:112234037C>G	ENST00000369709.3	+	2	234	c.55C>G	c.(55-57)Ctg>Gtg	p.L19V	RAP1A_ENST00000356415.1_Missense_Mutation_p.L19V|RAP1A_ENST00000545460.1_Missense_Mutation_p.L19V|RAP1A_ENST00000436150.2_Missense_Mutation_p.L19V|RAP1A_ENST00000494982.1_3'UTR	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	19					activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		GAAGTCTGCTCTGGTAAGTTA	0.388																																						dbGAP											0													123.0	109.0	113.0					1																	112234037		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014086	CCDS840.1	1p13.3	2014-05-09			ENSG00000116473	ENSG00000116473			9855	protein-coding gene	gene with protein product		179520				3143720	Standard	XM_006710803		Approved	KREV-1, SMGP21	uc001ebl.3	P62834	OTTHUMG00000011959	ENST00000369709.3:c.55C>G	1.37:g.112234037C>G	ENSP00000358723:p.Leu19Val	Somatic		WXS	Illumina GAIIx	Phase_IV	P10113	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L19V	ENST00000369709.3	37	c.55	CCDS840.1	1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428660	0.62844	.	.	ENSG00000116473	ENST00000356415;ENST00000433097;ENST00000369709;ENST00000436150;ENST00000545460	T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36	4.72	2.72	0.32119	Small GTP-binding protein domain (1);	0.078649	0.52532	D	0.000067	D	0.84243	0.5429	M	0.85041	2.73	0.80722	D	1	D	0.67145	0.996	D	0.68192	0.956	D	0.84158	0.0427	10	0.56958	D	0.05	.	6.7178	0.23312	0.0:0.6219:0.0:0.3781	.	19	P62834	RAP1A_HUMAN	V	19	ENSP00000348786:L19V;ENSP00000396741:L19V;ENSP00000358723:L19V;ENSP00000394318:L19V;ENSP00000443009:L19V	ENSP00000348786:L19V	L	+	1	2	RAP1A	112035560	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.251000	0.32862	1.034000	0.39945	0.455000	0.32223	CTG	RAP1A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000116473		0.388	RAP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP1A	HGNC	protein_coding	OTTHUMT00000033071.1	45	0.00	0	C	NM_002884		112234037	112234037	+1	no_errors	ENST00000356415	ensembl	human	known	69_37n	missense	51	17.74	11	SNP	1.000	G
RARRES3	5920	genome.wustl.edu	37	11	63312301	63312301	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:63312301G>A	ENST00000255688.3	+	3	375	c.327G>A	c.(325-327)gtG>gtA	p.V109V	RARRES3_ENST00000439013.2_Silent_p.V109V|RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Silent_p.V109V	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	109					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						ACAGTATTGTGAGCAGGAACT	0.507																																						dbGAP											0													162.0	165.0	164.0					11																	63312301		2063	4209	6272	-	-	-	SO:0001819	synonymous_variant	0				CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.327G>A	11.37:g.63312301G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R599|B4DDW2|E7ENZ7|O95200	Silent	SNP	pfam_LRAT-like_dom	p.V109	ENST00000255688.3	37	c.327	CCDS41662.1	11																																																																																			RARRES3	-	pfam_LRAT-like_dom	ENSG00000133321		0.507	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RARRES3	HGNC	protein_coding	OTTHUMT00000396629.1	43	0.00	0	G			63312301	63312301	+1	no_errors	ENST00000255688	ensembl	human	known	69_37n	silent	72	19.10	17	SNP	0.000	A
RARS2	57038	genome.wustl.edu	37	6	88299660	88299660	+	Missense_Mutation	SNP	G	G	A	rs201899366	byFrequency	TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:88299660G>A	ENST00000369536.5	-	1	61	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	ORC3_ENST00000546266.1_5'Flank|ORC3_ENST00000417380.2_5'Flank|ORC3_ENST00000392844.3_5'Flank|ORC3_ENST00000257789.4_5'Flank	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	6					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.R6C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ATAGCGCGGCGAAAGCCGCAC	0.672											OREG0031911	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	G|||	2	0.000399361	0.0	0.0014	5008	,	,		12638	0.001		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	breast(1)											26.0	32.0	30.0					6																	88299660		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.16C>T	6.37:g.88299660G>A	ENSP00000358549:p.Arg6Cys	Somatic	1258	WXS	Illumina GAIIx	Phase_IV	B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-synth_Ia	p.R6C	ENST00000369536.5	37	c.16	CCDS5011.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.34	3.364729	0.61513	.	.	ENSG00000146282	ENST00000369536	T	0.73897	-0.79	5.11	5.11	0.69529	Arginyl tRNA synthetase, class Ia, N-terminal (2);	0.101495	0.64402	D	0.000003	T	0.70753	0.3260	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	P	0.50231	0.635	T	0.75277	-0.3374	10	0.87932	D	0	.	14.2251	0.65853	0.0:0.0:1.0:0.0	.	6	Q5T160	SYRM_HUMAN	C	6	ENSP00000358549:R6C	ENSP00000358549:R6C	R	-	1	0	RARS2	88356379	1.000000	0.71417	0.978000	0.43139	0.031000	0.12232	2.529000	0.45632	2.826000	0.97356	0.655000	0.94253	CGC	RARS2	-	superfamily_Arg-tRNA-synth_N	ENSG00000146282		0.672	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS2	HGNC	protein_coding	OTTHUMT00000041448.1	66	0.00	0	G	NM_020320		88299660	88299660	-1	no_errors	ENST00000369536	ensembl	human	known	69_37n	missense	91	31.06	41	SNP	0.853	A
RBM15B	29890	genome.wustl.edu	37	3	51430965	51430965	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:51430965C>T	ENST00000323686.4	+	1	2235	c.2135C>T	c.(2134-2136)tCa>tTa	p.S712L		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	712	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAGAATCTTTCAGAGTACGCT	0.537																																						dbGAP											0													103.0	102.0	102.0					3																	51430965		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.2135C>T	3.37:g.51430965C>T	ENSP00000313890:p.Ser712Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.S712L	ENST00000323686.4	37	c.2135	CCDS33764.1	3	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112988	0.56398	.	.	ENSG00000179837	ENST00000323686;ENST00000540284;ENST00000541145;ENST00000536338	T	0.15718	2.4	5.65	4.76	0.60689	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);	.	.	.	.	T	0.15392	0.0371	L	0.29908	0.895	0.39807	D	0.97265	P	0.43750	0.816	B	0.43916	0.436	T	0.03773	-1.1005	9	0.49607	T	0.09	-7.2847	9.9075	0.41386	0.0:0.7876:0.1402:0.0721	.	712	Q8NDT2	RB15B_HUMAN	L	712;33;385;131	ENSP00000313890:S712L	ENSP00000313890:S712L	S	+	2	0	RBM15B	51406005	0.998000	0.40836	0.042000	0.18584	0.888000	0.51559	4.052000	0.57420	1.347000	0.45714	0.655000	0.94253	TCA	RBM15B	-	superfamily_SPOC-like,pfscan_SPOC_met	ENSG00000179837		0.537	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM15B	HGNC	protein_coding	OTTHUMT00000346489.1	47	0.00	0	C	NM_013286		51430965	51430965	+1	no_errors	ENST00000323686	ensembl	human	novel	69_37n	missense	31	22.50	9	SNP	0.881	T
RBMX	27316	genome.wustl.edu	37	X	135956543	135956543	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:135956543C>T	ENST00000320676.7	-	9	1088	c.934G>A	c.(934-936)Gat>Aat	p.D312N	RBMX_ENST00000496459.2_5'Flank|RBMX_ENST00000562646.1_3'UTR|RBMX_ENST00000565438.1_Missense_Mutation_p.D184N|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Missense_Mutation_p.D177N	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	312					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTGCTGTAATCATCATAGCGA	0.527																																						dbGAP											0													116.0	107.0	110.0					X																	135956543		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.934G>A	X.37:g.135956543C>T	ENSP00000359645:p.Asp312Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.D312N	ENST00000320676.7	37	c.934	CCDS14661.1	X	.	.	.	.	.	.	.	.	.	.	.	19.31	3.803485	0.70682	.	.	ENSG00000147274	ENST00000320676;ENST00000449161	T	0.77750	-1.12	5.4	5.4	0.78164	.	0.000000	0.85682	U	0.000000	T	0.82047	0.4952	L	0.59436	1.845	0.80722	D	1	D	0.64830	0.994	P	0.52109	0.69	T	0.82448	-0.0452	10	0.45353	T	0.12	.	18.4308	0.90624	0.0:1.0:0.0:0.0	.	312	P38159	HNRPG_HUMAN	N	312;299	ENSP00000359645:D312N	ENSP00000359645:D312N	D	-	1	0	RBMX	135784209	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.728000	0.84847	2.380000	0.81148	0.600000	0.82982	GAT	RBMX	-	NULL	ENSG00000147274		0.527	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX	HGNC	protein_coding	OTTHUMT00000058507.1	91	0.00	0	C	NM_002139		135956543	135956543	-1	no_errors	ENST00000320676	ensembl	human	known	69_37n	missense	96	13.51	15	SNP	1.000	T
RBP3	5949	genome.wustl.edu	37	10	48388468	48388468	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr10:48388468C>G	ENST00000224600.4	-	1	2523	c.2410G>C	c.(2410-2412)Gag>Cag	p.E804Q	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	804	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGGCGGGGCTCTGCCTCAAAG	0.627																																						dbGAP											0													17.0	17.0	17.0					10																	48388468		2197	4294	6491	-	-	-	SO:0001583	missense	0			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2410G>C	10.37:g.48388468C>G	ENSP00000224600:p.Glu804Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.E804Q	ENST00000224600.4	37	c.2410	CCDS7218.1	10	.	.	.	.	.	.	.	.	.	.	C	7.845	0.722832	0.15439	.	.	ENSG00000107618	ENST00000224600	T	0.65364	-0.15	5.21	4.28	0.50868	Interphotoreceptor retinol-binding (2);	0.065278	0.56097	D	0.000021	T	0.56514	0.1990	L	0.51853	1.615	0.39798	D	0.972528	B	0.30763	0.294	B	0.31614	0.133	T	0.60520	-0.7247	10	0.66056	D	0.02	-22.1716	11.9974	0.53212	0.0:0.9125:0.0:0.0875	.	804	P10745	RET3_HUMAN	Q	804	ENSP00000224600:E804Q	ENSP00000224600:E804Q	E	-	1	0	RBP3	48008474	0.986000	0.35501	0.962000	0.40283	0.455000	0.32408	2.670000	0.46833	1.156000	0.42514	0.561000	0.74099	GAG	RBP3	-	pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd	ENSG00000107618		0.627	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1	53	0.00	0	C	NM_002900		48388468	48388468	-1	no_errors	ENST00000224600	ensembl	human	known	69_37n	missense	65	32.29	31	SNP	0.948	G
RECK	8434	genome.wustl.edu	37	9	36085236	36085236	+	Intron	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:36085236G>A	ENST00000377966.3	+	8	1203				RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs						blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ACAATGAGAAGAGAGCCTGAT	0.338																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.637+1677G>A	9.37:g.36085236G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNS1|Q5W0K6|Q8WX37	RNA	SNP	-	NULL	ENST00000377966.3	37	NULL	CCDS6597.1	9																																																																																			RECK	-	-	ENSG00000122707		0.338	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECK	HGNC	protein_coding	OTTHUMT00000052409.1	48	0.00	0	G			36085236	36085236	+1	no_errors	ENST00000479053	ensembl	human	known	69_37n	rna	47	17.54	10	SNP	0.000	A
RMND5A	64795	genome.wustl.edu	37	2	86993036	86993036	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:86993036C>T	ENST00000283632.4	+	6	1238	c.743C>T	c.(742-744)tCa>tTa	p.S248L	RMND5A_ENST00000472843.1_3'UTR	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	248										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						ATTGAGAACTCACCATATGTT	0.468																																						dbGAP											0													162.0	133.0	142.0					2																	86993036		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog A"""					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.743C>T	2.37:g.86993036C>T	ENSP00000283632:p.Ser248Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Missense_Mutation	SNP	smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.S248L	ENST00000283632.4	37	c.743	CCDS1991.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.612714	0.96637	.	.	ENSG00000153561	ENST00000283632	.	.	.	5.54	5.54	0.83059	Ran binding protein-like, CRA domain (1);	0.201958	0.34725	N	0.003721	D	0.86569	0.5964	M	0.93016	3.37	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.89392	0.3689	9	0.87932	D	0	-18.7525	19.546	0.95297	0.0:1.0:0.0:0.0	.	248	Q9H871	RMD5A_HUMAN	L	248	.	ENSP00000283632:S248L	S	+	2	0	RMND5A	86846547	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.818000	0.86416	2.626000	0.88956	0.585000	0.79938	TCA	RMND5A	-	smart_CRA_dom	ENSG00000153561		0.468	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RMND5A	HGNC	protein_coding	OTTHUMT00000252591.2	67	0.00	0	C	NM_022780		86993036	86993036	+1	no_errors	ENST00000283632	ensembl	human	known	69_37n	missense	84	14.29	14	SNP	1.000	T
RFX8	731220	genome.wustl.edu	37	2	102038224	102038224	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:102038224C>A	ENST00000376826.2	-	7	537	c.538G>T	c.(538-540)Gac>Tac	p.D180Y	RFX8_ENST00000428343.1_Missense_Mutation_p.D67Y			Q6ZV50	RFX8_HUMAN	RFX family member 8, lacking RFX DNA binding domain	180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|stomach(1)	3						CAGTATTCGTCAGCAAGGAAG	0.378																																						dbGAP											0													120.0	105.0	109.0					2																	102038224		692	1591	2283	-	-	-	SO:0001583	missense	0			AK124976	CCDS46376.1	2q11.2	2012-11-15	2012-11-15		ENSG00000196460	ENSG00000196460			37253	protein-coding gene	gene with protein product			"""regulatory factor X, 8"", ""RFX gene family member 8, lacking RFX DNA binding domain"""				Standard	NM_001145664		Approved	FLJ42986	uc010yvx.1	Q6ZV50	OTTHUMG00000130693	ENST00000376826.2:c.538G>T	2.37:g.102038224C>A	ENSP00000366022:p.Asp180Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQ32	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.D180Y	ENST00000376826.2	37	c.538		2	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697718	0.68386	.	.	ENSG00000196460	ENST00000540519;ENST00000376826;ENST00000428343	T;T	0.78595	-1.19;0.8	5.0	5.0	0.66597	.	.	.	.	.	T	0.80065	0.4555	L	0.29908	0.895	0.34083	D	0.659768	D	0.69078	0.997	D	0.63192	0.912	D	0.85003	0.0901	9	0.66056	D	0.02	.	13.6515	0.62314	0.0:1.0:0.0:0.0	.	67	Q6ZV50-3	.	Y	30;180;67	ENSP00000366022:D180Y;ENSP00000401536:D67Y	ENSP00000366022:D180Y	D	-	1	0	RFX8	101404656	0.996000	0.38824	0.992000	0.48379	0.978000	0.69477	1.845000	0.39279	2.586000	0.87340	0.609000	0.83330	GAC	RFX8	-	NULL	ENSG00000196460		0.378	RFX8-201	KNOWN	basic|appris_principal	protein_coding	RFX8	HGNC	protein_coding		43	0.00	0	C	NM_001145664		102038224	102038224	-1	no_errors	ENST00000376826	ensembl	human	known	69_37n	missense	31	16.22	6	SNP	0.999	A
LRRC63	220416	genome.wustl.edu	37	13	46824343	46824343	+	Intron	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr13:46824343G>A	ENST00000595396.1	+	6	1089				RN7SKP5_ENST00000517045.1_RNA|LRRC63_ENST00000446175.1_Intron			Q05C16	LRC63_HUMAN	leucine rich repeat containing 63											lung(1)|ovary(1)	2						AAGGTTGACCGAGGGTGTTTA	0.353																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS61325.1	13q14.12	2014-02-12			ENSG00000173988	ENSG00000173988			34296	protein-coding gene	gene with protein product							Standard	NM_001282460		Approved	RP11-139H14.4	uc001vbc.3	Q05C16	OTTHUMG00000016866	ENST00000595396.1:c.1090-147G>A	13.37:g.46824343G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TBN0	RNA	SNP	-	NULL	ENST00000595396.1	37	NULL		13																																																																																			RN7SKP5	-	-	ENSG00000252854		0.353	LRRC63-002	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	RN7SKP5	HGNC	protein_coding	OTTHUMT00000463266.1	29	0.00	0	G	XM_001718341		46824343	46824343	+1	no_errors	ENST00000517045	ensembl	human	known	69_37n	rna	20	25.93	7	SNP	0.000	A
RNF123	63891	genome.wustl.edu	37	3	49736493	49736493	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:49736493C>G	ENST00000327697.6	+	10	863	c.719C>G	c.(718-720)tCt>tGt	p.S240C	RNF123_ENST00000432042.1_Missense_Mutation_p.S94C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	240	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ATCAGCCTCTCTTTCAAGGAG	0.577																																						dbGAP											0													88.0	88.0	88.0					3																	49736493		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.719C>G	3.37:g.49736493C>G	ENSP00000328287:p.Ser240Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.S240C	ENST00000327697.6	37	c.719	CCDS33758.1	3	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977529	0.74360	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.70516	-0.49;-0.49	5.02	5.02	0.67125	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.135522	0.51477	D	0.000089	D	0.82604	0.5073	M	0.66506	2.035	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.84709	0.0733	10	0.72032	D	0.01	-19.8376	17.3183	0.87229	0.0:1.0:0.0:0.0	.	240	Q5XPI4	RN123_HUMAN	C	240;240;94	ENSP00000328287:S240C;ENSP00000392443:S94C	ENSP00000328287:S240C	S	+	2	0	RNF123	49711497	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.398000	0.79919	2.328000	0.79073	0.561000	0.74099	TCT	RNF123	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000164068		0.577	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF123	HGNC	protein_coding	OTTHUMT00000346475.2	41	0.00	0	C	NM_022064		49736493	49736493	+1	no_errors	ENST00000327697	ensembl	human	known	69_37n	missense	40	13.04	6	SNP	1.000	G
RNF168	165918	genome.wustl.edu	37	3	196199119	196199119	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:196199119C>T	ENST00000318037.3	-	6	1881	c.1287G>A	c.(1285-1287)ctG>ctA	p.L429L	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	429					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CCAAATCTATCAGTTTTTGGG	0.398																																						dbGAP											0													154.0	149.0	151.0					3																	196199119		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.1287G>A	3.37:g.196199119C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NA67|Q96NS4	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L429	ENST00000318037.3	37	c.1287	CCDS3317.1	3																																																																																			RNF168	-	NULL	ENSG00000163961		0.398	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF168	HGNC	protein_coding	OTTHUMT00000340778.1	20	0.00	0	C	NM_152617		196199119	196199119	-1	no_errors	ENST00000318037	ensembl	human	known	69_37n	silent	16	30.43	7	SNP	1.000	T
RNF168	165918	genome.wustl.edu	37	3	196199266	196199266	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:196199266C>T	ENST00000318037.3	-	6	1734	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	380					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CCTTACTGATCAGTAGGCACG	0.448																																						dbGAP											0													136.0	135.0	135.0					3																	196199266		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.1140G>A	3.37:g.196199266C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NA67|Q96NS4	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L380	ENST00000318037.3	37	c.1140	CCDS3317.1	3																																																																																			RNF168	-	NULL	ENSG00000163961		0.448	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF168	HGNC	protein_coding	OTTHUMT00000340778.1	45	0.00	0	C	NM_152617		196199266	196199266	-1	no_errors	ENST00000318037	ensembl	human	known	69_37n	silent	39	22.00	11	SNP	0.000	T
RNF213	57674	genome.wustl.edu	37	17	78320002	78320002	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:78320002C>G	ENST00000582970.1	+	29	8010	c.7867C>G	c.(7867-7869)Cag>Gag	p.Q2623E	RNF213_ENST00000336301.6_Missense_Mutation_p.Q696E|RNF213_ENST00000508628.2_Missense_Mutation_p.Q2672E	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2623					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTGCGCCTCTCAGGGTTTCAT	0.522																																						dbGAP											0													93.0	96.0	95.0					17																	78320002		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7867C>G	17.37:g.78320002C>G	ENSP00000464087:p.Gln2623Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.Q2623E	ENST00000582970.1	37	c.7867	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580485	0.46006	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.39056	1.1	5.77	5.77	0.91146	.	0.158548	0.43579	D	0.000555	T	0.70657	0.3249	M	0.85197	2.74	0.47065	D	0.999305	D	0.71674	0.998	D	0.81914	0.995	T	0.74456	-0.3659	10	0.87932	D	0	.	19.9759	0.97304	0.0:1.0:0.0:0.0	.	696	Q63HN8	RN213_HUMAN	E	2623;2672;696	ENSP00000338218:Q696E	ENSP00000338218:Q696E	Q	+	1	0	RNF213	75934597	1.000000	0.71417	0.679000	0.29978	0.898000	0.52572	7.710000	0.84655	2.717000	0.92951	0.655000	0.94253	CAG	RNF213	-	NULL	ENSG00000173821		0.522	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	37	0.00	0	C	NM_020914		78320002	78320002	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	missense	42	10.64	5	SNP	1.000	G
RNF31	55072	genome.wustl.edu	37	14	24617260	24617260	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:24617260C>T	ENST00000324103.6	+	2	588	c.268C>T	c.(268-270)Cag>Tag	p.Q90*	PSME2_ENST00000216802.5_5'Flank|RNF31_ENST00000382687.3_5'Flank|RNF31_ENST00000559275.1_5'UTR|PSME2_ENST00000471700.2_5'Flank|PSME2_ENST00000560410.1_5'Flank|RNF31_ENST00000557878.1_3'UTR	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	90	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		TCTCAGCCCTCAGCGGCCTCG	0.582																																						dbGAP											0													101.0	103.0	103.0					14																	24617260		2027	4177	6204	-	-	-	SO:0001587	stop_gained	0			AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.268C>T	14.37:g.24617260C>T	ENSP00000315112:p.Gln90*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Nonsense_Mutation	SNP	pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2	p.Q90*	ENST00000324103.6	37	c.268	CCDS41931.1	14	.	.	.	.	.	.	.	.	.	.	C	33	5.215884	0.95104	.	.	ENSG00000092098	ENST00000324103	.	.	.	5.31	5.31	0.75309	.	0.402932	0.26282	N	0.025264	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.6509	17.9131	0.88940	0.0:1.0:0.0:0.0	.	.	.	.	X	90	.	.	Q	+	1	0	RNF31	23687100	0.939000	0.31865	1.000000	0.80357	0.989000	0.77384	1.939000	0.40213	2.779000	0.95612	0.655000	0.94253	CAG	RNF31	-	pfam_PUB_domain	ENSG00000092098		0.582	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF31	HGNC	protein_coding	OTTHUMT00000071921.3	63	0.00	0	C	NM_017999		24617260	24617260	+1	no_errors	ENST00000324103	ensembl	human	known	69_37n	nonsense	69	13.75	11	SNP	0.991	T
ROBO1	6091	genome.wustl.edu	37	3	78700970	78700970	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:78700970C>T	ENST00000464233.1	-	19	2837	c.2724G>A	c.(2722-2724)tgG>tgA	p.W908*	ROBO1_ENST00000467549.1_Nonsense_Mutation_p.W872*|ROBO1_ENST00000436010.2_Nonsense_Mutation_p.W869*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.W872*	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	908					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGAGGATGATCCAACAGGCTG	0.502																																						dbGAP											0													107.0	106.0	107.0					3																	78700970		2028	4189	6217	-	-	-	SO:0001587	stop_gained	0			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2724G>A	3.37:g.78700970C>T	ENSP00000420321:p.Trp908*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	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_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.W908*	ENST00000464233.1	37	c.2724	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	C	39	7.734478	0.98459	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	869;872;908;872;872;912	.	.	W	-	3	0	ROBO1	78783660	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	TGG	ROBO1	-	NULL	ENSG00000169855		0.502	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	62	0.00	0	C	NM_002941		78700970	78700970	-1	no_errors	ENST00000464233	ensembl	human	known	69_37n	nonsense	42	28.81	17	SNP	1.000	T
ROR2	4920	genome.wustl.edu	37	9	94495670	94495670	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:94495670G>A	ENST00000375708.3	-	6	869	c.671C>T	c.(670-672)tCa>tTa	p.S224L	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.S84L	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	224	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGCGAACTGTGAGCACTGGTC	0.657																																						dbGAP											0													48.0	47.0	47.0					9																	94495670		2203	4300	6503	-	-	-	SO:0001583	missense	0			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.671C>T	9.37:g.94495670G>A	ENSP00000364860:p.Ser224Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S224L	ENST00000375708.3	37	c.671	CCDS6691.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.131059	0.94473	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.77229	-1.08;-1.08	4.44	4.44	0.53790	Frizzled domain (2);	0.000000	0.37053	N	0.002266	D	0.83427	0.5252	L	0.41236	1.265	0.80722	D	1	P;D;D	0.69078	0.858;0.997;0.971	P;D;P	0.80764	0.536;0.994;0.811	D	0.84695	0.0725	10	0.52906	T	0.07	.	17.2815	0.87129	0.0:0.0:1.0:0.0	.	224;224;84	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	L	84;224	ENSP00000364867:S84L;ENSP00000364860:S224L	ENSP00000364860:S224L	S	-	2	0	ROR2	93535491	1.000000	0.71417	0.938000	0.37757	0.995000	0.86356	9.519000	0.98025	2.306000	0.77630	0.561000	0.74099	TCA	ROR2	-	pirsf_Tyr_kinase_rcpt_ROR,pfam_Frizzled_dom,superfamily_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000169071		0.657	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	45	0.00	0	G			94495670	94495670	-1	no_errors	ENST00000375708	ensembl	human	known	69_37n	missense	67	11.84	9	SNP	1.000	A
RP1	6101	genome.wustl.edu	37	8	55539243	55539243	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:55539243C>T	ENST00000220676.1	+	4	2949	c.2801C>T	c.(2800-2802)tCa>tTa	p.S934L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	934					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTATAAAATCAGCTCCAGTA	0.323																																					Colon(91;1014 1389 7634 14542 40420)	dbGAP											0													36.0	38.0	38.0					8																	55539243		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2801C>T	8.37:g.55539243C>T	ENSP00000220676:p.Ser934Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.S934L	ENST00000220676.1	37	c.2801	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.448391	0.01080	.	.	ENSG00000104237	ENST00000220676	T	0.48836	0.8	5.89	2.79	0.32731	.	0.480549	0.17523	N	0.171161	T	0.28632	0.0709	L	0.38838	1.175	0.09310	N	0.999999	B	0.09022	0.002	B	0.08055	0.003	T	0.26155	-1.0111	10	0.06236	T	0.91	.	5.2078	0.15300	0.0:0.4586:0.0:0.5414	.	934	P56715	RP1_HUMAN	L	934	ENSP00000220676:S934L	ENSP00000220676:S934L	S	+	2	0	RP1	55701796	0.681000	0.27614	0.720000	0.30636	0.250000	0.25880	0.479000	0.22228	0.839000	0.34971	-0.140000	0.14226	TCA	RP1	-	NULL	ENSG00000104237		0.323	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	29	0.00	0	C	NM_006269		55539243	55539243	+1	no_errors	ENST00000220676	ensembl	human	known	69_37n	missense	36	14.29	6	SNP	0.214	T
RPL22L1	200916	genome.wustl.edu	37	3	170584177	170584177	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:170584177C>G	ENST00000295830.8	-	4	676	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	RPL22L1_ENST00000463836.1_Missense_Mutation_p.E120Q	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	121					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GCCTAGTCCTCCGACTCTGAT	0.398																																						dbGAP											0													44.0	40.0	41.0					3																	170584177		1818	4091	5909	-	-	-	SO:0001583	missense	0			BC062731	CCDS46955.1	3q26.2	2005-08-09			ENSG00000163584	ENSG00000163584			27610	protein-coding gene	gene with protein product							Standard	NM_001099645		Approved		uc003fhc.4	Q6P5R6	OTTHUMG00000158957	ENST00000295830.8:c.361G>C	3.37:g.170584177C>G	ENSP00000346080:p.Glu121Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32Q77	Missense_Mutation	SNP	pfam_Ribosomal_L22e	p.E121Q	ENST00000295830.8	37	c.361	CCDS46955.1	3	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009060	0.75046	.	.	ENSG00000163584	ENST00000295830;ENST00000466674;ENST00000463836	T;T;T	0.52754	0.74;0.65;0.73	5.37	5.37	0.77165	.	0.106561	0.64402	D	0.000006	T	0.51517	0.1679	M	0.69823	2.125	0.80722	D	1	P	0.45044	0.849	B	0.39617	0.305	T	0.60929	-0.7165	10	0.66056	D	0.02	.	19.1162	0.93340	0.0:1.0:0.0:0.0	.	121	Q6P5R6	RL22L_HUMAN	Q	121;141;120	ENSP00000346080:E121Q;ENSP00000419713:E141Q;ENSP00000419041:E120Q	ENSP00000346080:E121Q	E	-	1	0	RPL22L1	172066871	1.000000	0.71417	0.995000	0.50966	0.937000	0.57800	7.792000	0.85828	2.524000	0.85096	0.313000	0.20887	GAG	RPL22L1	-	NULL	ENSG00000163584		0.398	RPL22L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPL22L1	HGNC	protein_coding	OTTHUMT00000352586.2	27	0.00	0	C	XM_114317		170584177	170584177	-1	no_errors	ENST00000295830	ensembl	human	known	69_37n	missense	21	30.00	9	SNP	1.000	G
RPP40	10799	genome.wustl.edu	37	6	4996298	4996298	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:4996298G>C	ENST00000380051.2	-	7	824	c.780C>G	c.(778-780)ttC>ttG	p.F260L	RPP40_ENST00000319533.5_Missense_Mutation_p.F237L|RPP40_ENST00000464646.1_Missense_Mutation_p.F200L	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	260					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				AGGTTGATATGAAATTATTAG	0.368																																						dbGAP											0													75.0	77.0	77.0					6																	4996298		2203	4300	6503	-	-	-	SO:0001583	missense	0			U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"""ribonuclease P1"", ""ribonuclease P 40kDa subunit"""	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.780C>G	6.37:g.4996298G>C	ENSP00000369391:p.Phe260Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VX97|Q8WVK8	Missense_Mutation	SNP	pfam_RNase_P_Rpp40	p.F260L	ENST00000380051.2	37	c.780	CCDS34333.1	6	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206991	0.58343	.	.	ENSG00000124787	ENST00000380051;ENST00000319533;ENST00000464646	T;T;T	0.46451	0.87;0.87;0.87	5.34	3.22	0.36961	.	0.000000	0.85682	D	0.000000	T	0.51075	0.1653	M	0.75447	2.3	0.53688	D	0.999973	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.977	T	0.53899	-0.8373	10	0.44086	T	0.13	-16.0387	11.6072	0.51039	0.224:0.0:0.776:0.0	.	237;260	O75818-2;O75818	.;RPP40_HUMAN	L	260;237;200	ENSP00000369391:F260L;ENSP00000317998:F237L;ENSP00000419431:F200L	ENSP00000317998:F237L	F	-	3	2	RPP40	4941297	0.999000	0.42202	0.979000	0.43373	0.652000	0.38707	2.456000	0.44997	1.255000	0.44051	-0.136000	0.14681	TTC	RPP40	-	pfam_RNase_P_Rpp40	ENSG00000124787		0.368	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RPP40	HGNC	protein_coding	OTTHUMT00000039733.2	26	0.00	0	G	NM_006638		4996298	4996298	-1	no_errors	ENST00000380051	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	0.986	C
RRAD	6236	genome.wustl.edu	37	16	66958816	66958816	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:66958816C>G	ENST00000299759.6	-	2	517	c.267G>C	c.(265-267)gaG>gaC	p.E89D	RRAD_ENST00000420652.1_Missense_Mutation_p.E89D			P55042	RAD_HUMAN	Ras-related associated with diabetes	89					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		TGTAAACGCTCTCGTCTGAGT	0.721																																						dbGAP											0													10.0	11.0	11.0					16																	66958816		2195	4298	6493	-	-	-	SO:0001583	missense	0			L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.267G>C	16.37:g.66958816C>G	ENSP00000299759:p.Glu89Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96F39	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E89D	ENST00000299759.6	37	c.267	CCDS10824.1	16	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827138	0.32329	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.78924	-1.22;-1.22	4.24	-8.04	0.01110	.	0.812429	0.11296	N	0.578757	T	0.42291	0.1196	N	0.02865	-0.47	0.21675	N	0.999599	B	0.02656	0.0	B	0.01281	0.0	T	0.47535	-0.9110	10	0.10377	T	0.69	.	7.2146	0.25953	0.2243:0.2124:0.4954:0.0679	.	89	P55042	RAD_HUMAN	D	89	ENSP00000388744:E89D;ENSP00000299759:E89D	ENSP00000299759:E89D	E	-	3	2	RRAD	65516317	0.072000	0.21174	0.845000	0.33349	0.922000	0.55478	-0.311000	0.08124	-0.977000	0.03537	-0.165000	0.13383	GAG	RRAD	-	smart_Small_GTPase_Ras,pirsf_Small_GTPase_GEM/REM/Rad	ENSG00000166592		0.721	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAD	HGNC	protein_coding	OTTHUMT00000268830.1	12	0.00	0	C	NM_004165		66958816	66958816	-1	no_errors	ENST00000299759	ensembl	human	known	69_37n	missense	12	55.56	15	SNP	0.484	G
RRAGC	64121	genome.wustl.edu	37	1	39311645	39311645	+	Silent	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:39311645G>C	ENST00000373001.3	-	6	1190	c.1014C>G	c.(1012-1014)gtC>gtG	p.V338V	RRAGC_ENST00000474456.1_5'UTR	NM_022157.2	NP_071440.1			Ras-related GTP binding C											endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				TTAGAATGCAGACCAGTGCCA	0.328																																						dbGAP											0													101.0	101.0	101.0					1																	39311645		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.1014C>G	1.37:g.39311645G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su	p.V338	ENST00000373001.3	37	c.1014	CCDS430.1	1																																																																																			RRAGC	-	NULL	ENSG00000116954		0.328	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAGC	HGNC	protein_coding	OTTHUMT00000001222.2	50	0.00	0	G	NM_022157		39311645	39311645	-1	no_errors	ENST00000373001	ensembl	human	known	69_37n	silent	41	16.33	8	SNP	0.997	C
RRM1	6240	genome.wustl.edu	37	11	4133204	4133204	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:4133204G>C	ENST00000300738.5	+	7	766	c.562G>C	c.(562-564)Gaa>Caa	p.E188Q	RRM1_ENST00000423050.2_Missense_Mutation_p.E91Q	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	188					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TGCAGCAATTGAAACATATAA	0.418																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	dbGAP											0													121.0	117.0	118.0					11																	4133204		2201	4298	6499	-	-	-	SO:0001583	missense	0			X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.562G>C	11.37:g.4133204G>C	ENSP00000300738:p.Glu188Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UNN2	Missense_Mutation	SNP	pfam_Ribncl_red_lg_C,pfam_Ribncl_Rdtase_lsu_N,pfam_ATP-cone,superfamily_Ribnucl_Rdtase_R1-su_N,pfscan_ATP-cone,prints_Ribncl_red_lg_C,tigrfam_NrdE_NrdA	p.E188Q	ENST00000300738.5	37	c.562	CCDS7750.1	11	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121995	0.77436	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894	T;T	0.35605	1.3;1.32	5.47	5.47	0.80525	Ribonucleotide reductase large subunit, N-terminal (1);Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase R1 subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.37293	0.0998	M	0.71581	2.175	0.80722	D	1	P	0.47191	0.891	B	0.33042	0.157	T	0.47611	-0.9104	10	0.52906	T	0.07	-18.4064	18.6768	0.91531	0.0:0.0:1.0:0.0	.	188	P23921	RIR1_HUMAN	Q	188;91;101	ENSP00000300738:E188Q;ENSP00000390539:E91Q	ENSP00000300738:E188Q	E	+	1	0	RRM1	4089780	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.520000	0.81821	2.724000	0.93272	0.655000	0.94253	GAA	RRM1	-	pfam_Ribncl_Rdtase_lsu_N,superfamily_Ribnucl_Rdtase_R1-su_N,tigrfam_NrdE_NrdA	ENSG00000167325		0.418	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRM1	HGNC	protein_coding	OTTHUMT00000257197.1	41	0.00	0	G	NM_001033		4133204	4133204	+1	no_errors	ENST00000300738	ensembl	human	known	69_37n	missense	31	18.42	7	SNP	1.000	C
RSBN1	54665	genome.wustl.edu	37	1	114308679	114308679	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:114308679G>A	ENST00000261441.5	-	7	2395	c.2332C>T	c.(2332-2334)Cca>Tca	p.P778S	RSBN1_ENST00000369581.2_5'Flank	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	778						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTAAAACTGGAATAGGCTGA	0.398																																						dbGAP											0													109.0	105.0	106.0					1																	114308679		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.2332C>T	1.37:g.114308679G>A	ENSP00000261441:p.Pro778Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	NULL	p.P778S	ENST00000261441.5	37	c.2332	CCDS862.1	1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124298	0.56613	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.85	3.99	0.46301	.	0.085962	0.51477	N	0.000095	T	0.38612	0.1047	L	0.47716	1.5	0.43326	D	0.995351	B	0.16802	0.019	B	0.18263	0.021	T	0.29971	-0.9994	9	0.40728	T	0.16	-0.4457	12.4574	0.55712	0.1352:0.0:0.8648:0.0	.	778	Q5VWQ0	RSBN1_HUMAN	S	778	.	ENSP00000261441:P778S	P	-	1	0	RSBN1	114110202	1.000000	0.71417	0.527000	0.27925	0.994000	0.84299	5.037000	0.64170	0.819000	0.34492	0.557000	0.71058	CCA	RSBN1	-	NULL	ENSG00000081019		0.398	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1	HGNC	protein_coding	OTTHUMT00000033022.2	48	0.00	0	G	NM_018364		114308679	114308679	-1	no_errors	ENST00000261441	ensembl	human	known	69_37n	missense	73	13.10	11	SNP	0.999	A
RSPH3	83861	genome.wustl.edu	37	6	159420602	159420602	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:159420602C>T	ENST00000252655.1	-	1	596	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	RP1-111C20.4_ENST00000607796.1_RNA|RSPH3_ENST00000367069.2_5'UTR|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000449822.1_5'UTR|RSPH3_ENST00000297262.3_Missense_Mutation_p.R136Q|RP1-111C20.4_ENST00000606470.1_RNA	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	136										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		CTGACTGCCTCGCTTTCGGTG	0.647																																						dbGAP											0													90.0	97.0	94.0					6																	159420602		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.407G>A	6.37:g.159420602C>T	ENSP00000252655:p.Arg136Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	pfam_Radial_spoke_3	p.R136Q	ENST00000252655.1	37	c.407	CCDS5260.1	6	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398092	0.42512	.	.	ENSG00000130363	ENST00000252655;ENST00000297262	T;T	0.12774	2.67;2.65	5.07	-2.53	0.06326	.	1.993550	0.02621	N	0.103235	T	0.01940	0.0061	L	0.27053	0.805	0.09310	N	1	B;B	0.29862	0.259;0.024	B;B	0.16722	0.016;0.007	T	0.36768	-0.9734	10	0.21540	T	0.41	-0.1317	2.0011	0.03467	0.1353:0.4132:0.1206:0.331	.	136;136	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	Q	136	ENSP00000252655:R136Q;ENSP00000297262:R136Q	ENSP00000252655:R136Q	R	-	2	0	RSPH3	159340590	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.279000	0.02807	-0.326000	0.08564	0.563000	0.77884	CGA	RSPH3	-	NULL	ENSG00000130363		0.647	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH3	HGNC	protein_coding		61	0.00	0	C	NM_031924		159420602	159420602	-1	no_errors	ENST00000252655	ensembl	human	known	69_37n	missense	84	14.29	14	SNP	0.000	T
RYR3	6263	genome.wustl.edu	37	15	34113753	34113753	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr15:34113753C>T	ENST00000389232.4	+	80	11015	c.10945C>T	c.(10945-10947)Ctg>Ttg	p.L3649L	RYR3_ENST00000415757.3_Silent_p.L3644L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3649					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.L3648M(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGTTGAGACGCTGAAGCTGGG	0.552																																						dbGAP											1	Substitution - Missense(1)	lung(1)											85.0	89.0	88.0					15																	34113753		2098	4235	6333	-	-	-	SO:0001819	synonymous_variant	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10945C>T	15.37:g.34113753C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O15175|Q15412	Silent	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.L3649	ENST00000389232.4	37	c.10945	CCDS45210.1	15																																																																																			RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.552	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	32	0.00	0	C			34113753	34113753	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	silent	29	21.62	8	SNP	1.000	T
S100PBP	64766	genome.wustl.edu	37	1	33321706	33321706	+	3'UTR	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:33321706C>G	ENST00000373475.5	+	0	1548				S100PBP_ENST00000373476.1_3'UTR	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ATTTCATGTTCTTTTGCTGTT	0.408																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.*67C>G	1.37:g.33321706C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000373475.5	37	NULL	CCDS30666.1	1																																																																																			S100PBP	-	-	ENSG00000116497		0.408	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100PBP	HGNC	protein_coding	OTTHUMT00000011266.1	26	0.00	0	C	NM_022753		33321706	33321706	+1	no_errors	ENST00000527692	ensembl	human	putative	69_37n	rna	23	30.30	10	SNP	0.875	G
SATB1	6304	genome.wustl.edu	37	3	18390766	18390766	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:18390766C>T	ENST00000338745.6	-	11	3922	c.2188G>A	c.(2188-2190)Gag>Aag	p.E730K	SATB1_ENST00000454909.2_Missense_Mutation_p.E730K|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.E762K	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	730					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGGACACTCTCTTCCAAATCC	0.413																																						dbGAP											0													155.0	163.0	160.0					3																	18390766		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.2188G>A	3.37:g.18390766C>T	ENSP00000341024:p.Glu730Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.E730K	ENST00000338745.6	37	c.2188	CCDS2631.1	3	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270500	0.40194	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	T;T;T	0.55413	0.58;0.58;0.52	5.61	5.61	0.85477	.	0.115379	0.56097	D	0.000027	T	0.49355	0.1552	N	0.14661	0.345	0.80722	D	1	P;D	0.53885	0.867;0.963	B;P	0.50082	0.288;0.63	T	0.56848	-0.7911	10	0.87932	D	0	-13.6514	19.6379	0.95744	0.0:1.0:0.0:0.0	.	762;730	Q01826-2;Q01826	.;SATB1_HUMAN	K	730;730;762	ENSP00000341024:E730K;ENSP00000399708:E730K;ENSP00000399518:E762K	ENSP00000341024:E730K	E	-	1	0	SATB1	18365770	1.000000	0.71417	0.921000	0.36526	0.125000	0.20455	5.445000	0.66594	2.657000	0.90304	0.655000	0.94253	GAG	SATB1	-	NULL	ENSG00000182568		0.413	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB1	HGNC	protein_coding	OTTHUMT00000252138.4	31	0.00	0	C	NM_001131010		18390766	18390766	-1	no_errors	ENST00000338745	ensembl	human	known	69_37n	missense	33	13.16	5	SNP	1.000	T
SCAMP1	9522	genome.wustl.edu	37	5	77714654	77714654	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:77714654C>G	ENST00000538629.1	+	5	556	c.399C>G	c.(397-399)ttC>ttG	p.F133L	SCAMP1_ENST00000339292.4_3'UTR	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1	133					endocytosis (GO:0006897)|exocytosis (GO:0006887)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	clathrin-coated vesicle (GO:0030136)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|synaptic vesicle membrane (GO:0030672)|trans-Golgi network (GO:0005802)|zymogen granule membrane (GO:0042589)							all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		GACCTTGTTTCTATCAGGATT	0.313																																						dbGAP											0													52.0	46.0	48.0					5																	77714654		1804	4056	5860	-	-	-	SO:0001583	missense	0			AF038966	CCDS75264.1	5q14.1	2013-02-21			ENSG00000085365	ENSG00000085365		"""Secretory carrier membrane proteins"""	10563	protein-coding gene	gene with protein product		606911				9378760	Standard	NM_004866		Approved	SCAMP37	uc003kfl.3	O15126	OTTHUMG00000162479	ENST00000538629.1:c.399C>G	5.37:g.77714654C>G	ENSP00000475496:p.Phe133Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O43587|Q6FG23|Q96BX1|Q96QK5	RNA	SNP	-	NULL	ENST00000538629.1	37	NULL		5																																																																																			SCAMP1	-	-	ENSG00000085365		0.313	SCAMP1-201	KNOWN	basic|appris_principal	protein_coding	SCAMP1	HGNC	protein_coding		43	0.00	0	C	NM_004866		77714654	77714654	+1	no_errors	ENST00000320280	ensembl	human	known	69_37n	rna	43	10.42	5	SNP	1.000	G
SCN5A	6331	genome.wustl.edu	37	3	38601833	38601833	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:38601833G>A	ENST00000333535.4	-	23	4199	c.4050C>T	c.(4048-4050)atC>atT	p.I1350I	SCN5A_ENST00000443581.1_Silent_p.I1349I|SCN5A_ENST00000414099.2_Silent_p.I1350I|SCN5A_ENST00000425664.1_Silent_p.I1350I|SCN5A_ENST00000451551.2_Silent_p.I1296I|SCN5A_ENST00000449557.2_Silent_p.I1296I|SCN5A_ENST00000413689.1_Silent_p.I1350I|SCN5A_ENST00000450102.2_Silent_p.I1296I|SCN5A_ENST00000423572.2_Silent_p.I1349I|SCN5A_ENST00000455624.2_Silent_p.I1349I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1350					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCACGCCCATGATGCTGAAGA	0.547																																						dbGAP											0													113.0	108.0	110.0					3																	38601833		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4050C>T	3.37:g.38601833G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.I1350	ENST00000333535.4	37	c.4050	CCDS46796.1	3																																																																																			SCN5A	-	pfam_Ion_trans_dom	ENSG00000183873		0.547	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	34	0.00	0	G	NM_198056		38601833	38601833	-1	no_errors	ENST00000333535	ensembl	human	known	69_37n	silent	42	16.00	8	SNP	1.000	A
SCN5A	6331	genome.wustl.edu	37	3	38647444	38647444	+	Nonsense_Mutation	SNP	C	C	A	rs199473339	byFrequency	TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:38647444C>A	ENST00000333535.4	-	10	1485	c.1336G>T	c.(1336-1338)Gag>Tag	p.E446*	SCN5A_ENST00000443581.1_Nonsense_Mutation_p.E446*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.E446*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.E446*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.E446*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.E446*|SCN5A_ENST00000413689.1_Nonsense_Mutation_p.E446*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.E446*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.E446*|SCN5A_ENST00000455624.2_Nonsense_Mutation_p.E446*			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	446					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCACCCACCTCGTGTTCTTTC	0.562																																						dbGAP											0													67.0	75.0	72.0					3																	38647444		2050	4189	6239	-	-	-	SO:0001587	stop_gained	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1336G>T	3.37:g.38647444C>A	ENSP00000328968:p.Glu446*	Somatic		WXS	Illumina GAIIx	Phase_IV	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.E446*	ENST00000333535.4	37	c.1336	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	C	39	7.373667	0.98245	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	.	.	.	5.54	5.54	0.83059	.	0.232433	0.44483	D	0.000451	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.6787	0.95950	0.0:1.0:0.0:0.0	.	.	.	.	X	446	.	ENSP00000328968:E446X	E	-	1	0	SCN5A	38622448	0.992000	0.36948	0.976000	0.42696	0.963000	0.63663	2.604000	0.46274	2.884000	0.98904	0.655000	0.94253	GAG	SCN5A	-	prints_Na_channel_a5su	ENSG00000183873		0.562	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	60	0.00	0	C	NM_198056		38647444	38647444	-1	no_errors	ENST00000333535	ensembl	human	known	69_37n	nonsense	78	11.36	10	SNP	0.999	A
SCN10A	6336	genome.wustl.edu	37	3	38783794	38783794	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:38783794C>G	ENST00000449082.2	-	13	2093	c.2094G>C	c.(2092-2094)caG>caC	p.Q698H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	698					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TGTTGCCTATCTGGAGCATGG	0.607																																						dbGAP											0													93.0	70.0	78.0					3																	38783794		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2094G>C	3.37:g.38783794C>G	ENSP00000390600:p.Gln698His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.Q698H	ENST00000449082.2	37	c.2094	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	C	4.080	0.012808	0.07912	.	.	ENSG00000185313	ENST00000449082	D	0.97455	-4.39	4.15	0.0967	0.14491	.	1.103280	0.06814	N	0.790815	D	0.93789	0.8014	L	0.54323	1.7	0.09310	N	1	B	0.31054	0.306	B	0.29716	0.106	D	0.86023	0.1508	10	0.72032	D	0.01	.	0.3387	0.00330	0.2867:0.203:0.2814:0.2289	.	698	Q9Y5Y9	SCNAA_HUMAN	H	698	ENSP00000390600:Q698H	ENSP00000390600:Q698H	Q	-	3	2	SCN10A	38758798	0.000000	0.05858	0.036000	0.18154	0.463000	0.32649	-3.243000	0.00543	0.114000	0.18032	-0.226000	0.12346	CAG	SCN10A	-	NULL	ENSG00000185313		0.607	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	24	0.00	0	C	NM_006514		38783794	38783794	-1	no_errors	ENST00000449082	ensembl	human	known	69_37n	missense	17	22.73	5	SNP	0.000	G
SCN7A	6332	genome.wustl.edu	37	2	167266302	167266302	+	Missense_Mutation	SNP	C	C	G	rs199934497	byFrequency	TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:167266302C>G	ENST00000409855.1	-	24	3981	c.3855G>C	c.(3853-3855)tgG>tgC	p.W1285C		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1285					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TTGAGTTAATCCAGTAGAGAG	0.338																																						dbGAP											0													55.0	55.0	55.0					2																	167266302		1851	4094	5945	-	-	-	SO:0001583	missense	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.3855G>C	2.37:g.167266302C>G	ENSP00000386796:p.Trp1285Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.W1285C	ENST00000409855.1	37	c.3855	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392553	0.42410	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.98400	-4.91	5.54	5.54	0.83059	Ion transport (1);	0.078649	0.56097	D	0.000039	D	0.96923	0.8995	L	0.56769	1.78	0.58432	D	0.999999	B	0.30439	0.279	B	0.31290	0.127	D	0.95473	0.8553	10	0.39692	T	0.17	.	17.0229	0.86438	0.0:1.0:0.0:0.0	.	1285	Q01118	SCN7A_HUMAN	C	1285	ENSP00000386796:W1285C	ENSP00000259060:W1285C	W	-	3	0	SCN7A	166974548	0.373000	0.25073	0.995000	0.50966	0.542000	0.35054	1.046000	0.30354	2.880000	0.98712	0.650000	0.86243	TGG	SCN7A	-	pfam_Ion_trans_dom	ENSG00000136546		0.338	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	36	0.00	0	C			167266302	167266302	-1	no_errors	ENST00000409855	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	1.000	G
SCUBE1	80274	genome.wustl.edu	37	22	43623467	43623467	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr22:43623467C>T	ENST00000360835.4	-	10	1246	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	374	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CAGCCCTGGTCACAGCTCCCG	0.677																																						dbGAP											0													81.0	64.0	70.0					22																	43623467		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1120G>A	22.37:g.43623467C>T	ENSP00000354080:p.Asp374Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5R336	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.D374N	ENST00000360835.4	37	c.1120	CCDS14048.1	22	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348010	0.61183	.	.	ENSG00000159307	ENST00000360835	D	0.92199	-2.99	3.91	2.84	0.33178	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.166877	0.52532	D	0.000074	D	0.85496	0.5710	N	0.14661	0.345	0.80722	D	1	B	0.14805	0.011	B	0.28305	0.088	T	0.81066	-0.1101	10	0.56958	D	0.05	.	13.4268	0.61030	0.0:0.8408:0.1592:0.0	.	374	Q8IWY4	SCUB1_HUMAN	N	374	ENSP00000354080:D374N	ENSP00000354080:D374N	D	-	1	0	SCUBE1	41953411	0.970000	0.33590	0.272000	0.24630	0.915000	0.54546	2.387000	0.44389	0.931000	0.37242	0.591000	0.81541	GAC	SCUBE1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000159307		0.677	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	HGNC	protein_coding	OTTHUMT00000319582.3	46	0.00	0	C	NM_173050		43623467	43623467	-1	no_errors	ENST00000360835	ensembl	human	known	69_37n	missense	66	18.52	15	SNP	0.999	T
SCYL2	55681	genome.wustl.edu	37	12	100704969	100704969	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:100704969G>C	ENST00000360820.2	+	5	1065	c.628G>C	c.(628-630)Gag>Cag	p.E210Q		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	210	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TTCTGAACAAGAGGTAATGAA	0.338																																						dbGAP											0													75.0	78.0	77.0					12																	100704969		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.628G>C	12.37:g.100704969G>C	ENSP00000354061:p.Glu210Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.E210Q	ENST00000360820.2	37	c.628	CCDS9076.1	12	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723469	0.48728	.	.	ENSG00000136021	ENST00000549687;ENST00000548392;ENST00000258506;ENST00000360820	T;T	0.29655	1.87;1.56	4.98	4.98	0.66077	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	L	0.28649	0.875	0.80722	D	1	B	0.20550	0.046	B	0.31869	0.137	T	0.06570	-1.0819	10	0.15066	T	0.55	.	18.6207	0.91319	0.0:0.0:1.0:0.0	.	210	Q6P3W7	SCYL2_HUMAN	Q	210;37;37;210	ENSP00000448366:E210Q;ENSP00000354061:E210Q	ENSP00000258506:E37Q	E	+	1	0	SCYL2	99229100	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.508000	0.98000	2.457000	0.83068	0.650000	0.86243	GAG	SCYL2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000136021		0.338	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL2	HGNC	protein_coding	OTTHUMT00000408493.2	70	0.00	0	G	NM_017988		100704969	100704969	+1	no_errors	ENST00000360820	ensembl	human	known	69_37n	missense	51	16.39	10	SNP	1.000	C
SDK1	221935	genome.wustl.edu	37	7	4213923	4213923	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:4213923G>A	ENST00000404826.2	+	33	5009	c.4870G>A	c.(4870-4872)Gaa>Aaa	p.E1624K	SDK1_ENST00000389531.3_Missense_Mutation_p.E1624K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1624	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCTGGAGTATGAAGCCGGGTC	0.552																																						dbGAP											0													205.0	199.0	201.0					7																	4213923		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4870G>A	7.37:g.4213923G>A	ENSP00000385899:p.Glu1624Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,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.E1624K	ENST00000404826.2	37	c.4870	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086665	0.55861	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.58506	0.33;0.33	4.91	4.91	0.64330	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.076952	0.49916	D	0.000121	T	0.61248	0.2332	L	0.59436	1.845	0.43211	D	0.995073	P;P;P	0.48998	0.837;0.776;0.918	B;P;P	0.49140	0.363;0.601;0.532	T	0.58103	-0.7695	10	0.20519	T	0.43	.	16.282	0.82694	0.0:0.0:1.0:0.0	.	1624;111;1624	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	K	1624	ENSP00000385899:E1624K;ENSP00000374182:E1624K	ENSP00000374182:E1624K	E	+	1	0	SDK1	4180449	0.999000	0.42202	0.606000	0.28943	0.484000	0.33280	3.748000	0.55142	2.265000	0.75225	0.462000	0.41574	GAA	SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	29	0.00	0	G	NM_152744		4213923	4213923	+1	no_errors	ENST00000404826	ensembl	human	known	69_37n	missense	45	16.67	9	SNP	0.956	A
SDPR	8436	genome.wustl.edu	37	2	192711414	192711414	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:192711414C>T	ENST00000304141.4	-	1	567	c.238G>A	c.(238-240)Gag>Aag	p.E80K	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TGTCGCTGCTCCATCTTGTGC	0.572																																						dbGAP											0													117.0	96.0	103.0					2																	192711414		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.238G>A	2.37:g.192711414C>T	ENSP00000305675:p.Glu80Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E80K	ENST00000304141.4	37	c.238	CCDS2313.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.077585	0.94000	.	.	ENSG00000168497	ENST00000304141	T	0.67523	-0.27	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.83022	0.5164	M	0.82517	2.595	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.85856	0.1407	10	0.72032	D	0.01	-32.4703	18.0107	0.89222	0.0:1.0:0.0:0.0	.	80	O95810	SDPR_HUMAN	K	80	ENSP00000305675:E80K	ENSP00000305675:E80K	E	-	1	0	SDPR	192419659	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.575000	0.82447	2.564000	0.86499	0.484000	0.47621	GAG	SDPR	-	NULL	ENSG00000168497		0.572	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDPR	HGNC	protein_coding	OTTHUMT00000334791.2	102	0.00	0	C	NM_004657		192711414	192711414	-1	no_errors	ENST00000304141	ensembl	human	known	69_37n	missense	93	30.08	40	SNP	1.000	T
SDPR	8436	genome.wustl.edu	37	2	192711603	192711603	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:192711603C>G	ENST00000304141.4	-	1	378	c.49G>C	c.(49-51)Gac>Cac	p.D17H	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TGCCGCATGTCAGACCCAGGG	0.617																																						dbGAP											0													64.0	64.0	64.0					2																	192711603		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.49G>C	2.37:g.192711603C>G	ENSP00000305675:p.Asp17His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.D17H	ENST00000304141.4	37	c.49	CCDS2313.1	2	.	.	.	.	.	.	.	.	.	.	C	4.096	0.015807	0.07959	.	.	ENSG00000168497	ENST00000304141	T	0.66995	-0.24	4.84	3.96	0.45880	.	1.230050	0.05338	N	0.529508	T	0.61185	0.2327	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.49615	-0.8921	10	0.42905	T	0.14	-18.4737	12.4621	0.55736	0.0:0.9168:0.0:0.0832	.	17	O95810	SDPR_HUMAN	H	17	ENSP00000305675:D17H	ENSP00000305675:D17H	D	-	1	0	SDPR	192419848	0.003000	0.15002	0.012000	0.15200	0.039000	0.13416	1.549000	0.36212	1.400000	0.46741	0.555000	0.69702	GAC	SDPR	-	NULL	ENSG00000168497		0.617	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDPR	HGNC	protein_coding	OTTHUMT00000334791.2	88	0.00	0	C	NM_004657		192711603	192711603	-1	no_errors	ENST00000304141	ensembl	human	known	69_37n	missense	96	29.20	40	SNP	0.016	G
SEC24D	9871	genome.wustl.edu	37	4	119649793	119649793	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:119649793C>T	ENST00000280551.6	-	22	3119	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K	SEC24D_ENST00000511481.1_Missense_Mutation_p.E592K|SEC24D_ENST00000379735.5_Missense_Mutation_p.E962K|SEC24D_ENST00000429811.2_3'UTR|SEC24D_ENST00000505134.1_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D	961					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TTTCCCACTTCAGGCAGCAAT	0.299																																						dbGAP											0													125.0	119.0	121.0					4																	119649793		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.2881G>A	4.37:g.119649793C>T	ENSP00000280551:p.Glu961Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYI7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.E962K	ENST00000280551.6	37	c.2884	CCDS3710.1	4	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923287	0.33908	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000511481	T;T;T	0.56776	0.44;0.44;0.44	5.77	5.77	0.91146	Gelsolin domain (1);	0.187707	0.47455	D	0.000229	T	0.46464	0.1394	L	0.53671	1.685	0.80722	D	1	B;B	0.34290	0.012;0.447	B;B	0.28465	0.009;0.09	T	0.45934	-0.9227	10	0.07813	T	0.8	-29.3438	19.996	0.97383	0.0:1.0:0.0:0.0	.	962;961	O94855-2;O94855	.;SC24D_HUMAN	K	961;962;592	ENSP00000280551:E961K;ENSP00000369059:E962K;ENSP00000425491:E592K	ENSP00000280551:E961K	E	-	1	0	SEC24D	119869241	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	5.649000	0.67936	2.718000	0.92993	0.579000	0.79373	GAA	SEC24D	-	pfam_Gelsolin_dom	ENSG00000150961		0.299	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24D	HGNC	protein_coding	OTTHUMT00000256514.4	42	0.00	0	C			119649793	119649793	-1	no_errors	ENST00000379735	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	1.000	T
SEL1L2	80343	genome.wustl.edu	37	20	13830022	13830022	+	IGR	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:13830022G>C	ENST00000284951.5	-	0	2224				SEL1L2_ENST00000486903.1_5'Flank			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)							integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TCACAGCCCTGAGCGGGAAAC	0.488																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910		20.37:g.13830022G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXX5	RNA	SNP	-	NULL	ENST00000284951.5	37	NULL		20																																																																																			SEL1L2	-	-	ENSG00000101251		0.488	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	HGNC	protein_coding	OTTHUMT00000078067.3	49	0.00	0	G	NM_025229		13830022	13830022	-1	no_errors	ENST00000482196	ensembl	human	known	69_37n	rna	41	21.15	11	SNP	0.000	C
SEL1L2	80343	genome.wustl.edu	37	20	13830047	13830047	+	IGR	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:13830047G>C	ENST00000284951.5	-	0	2224				SEL1L2_ENST00000486903.1_5'Flank			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)							integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GCGGACTCTTGATTTGGATGG	0.488																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910		20.37:g.13830047G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXX5	RNA	SNP	-	NULL	ENST00000284951.5	37	NULL		20																																																																																			SEL1L2	-	-	ENSG00000101251		0.488	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	HGNC	protein_coding	OTTHUMT00000078067.3	60	0.00	0	G	NM_025229		13830047	13830047	-1	no_errors	ENST00000482196	ensembl	human	known	69_37n	rna	55	21.43	15	SNP	0.271	C
SENP6	26054	genome.wustl.edu	37	6	76385692	76385692	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:76385692C>G	ENST00000447266.2	+	13	2021	c.1543C>G	c.(1543-1545)Caa>Gaa	p.Q515E	SENP6_ENST00000541192.1_Missense_Mutation_p.Q111E|SENP6_ENST00000370010.2_Missense_Mutation_p.Q508E|SENP6_ENST00000327284.8_Missense_Mutation_p.Q508E|SENP6_ENST00000370014.3_Missense_Mutation_p.Q515E	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	515					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGCAGTTTATCAAAAGCTGAG	0.313																																						dbGAP											0													73.0	67.0	69.0					6																	76385692		1819	4090	5909	-	-	-	SO:0001583	missense	0				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1543C>G	6.37:g.76385692C>G	ENSP00000402527:p.Gln515Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.Q515E	ENST00000447266.2	37	c.1543	CCDS47454.1	6	.	.	.	.	.	.	.	.	.	.	C	9.029	0.986741	0.18889	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	T;T;T;T;T;T	0.30981	2.71;2.73;1.51;2.73;1.51;1.53	5.21	3.34	0.38264	.	0.617589	0.17118	N	0.186359	T	0.13329	0.0323	L	0.53249	1.67	0.33327	D	0.568048	B;B;B	0.11235	0.004;0.002;0.003	B;B;B	0.11329	0.006;0.004;0.006	T	0.05533	-1.0879	10	0.33141	T	0.24	-5.2372	10.8313	0.46663	0.144:0.6093:0.2468:0.0	.	508;515;508	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	E	508;515;508;515;405;111	ENSP00000359027:Q508E;ENSP00000359031:Q515E;ENSP00000321820:Q508E;ENSP00000402527:Q515E;ENSP00000391426:Q405E;ENSP00000441715:Q111E	ENSP00000321820:Q508E	Q	+	1	0	SENP6	76442412	0.994000	0.37717	1.000000	0.80357	0.980000	0.70556	1.377000	0.34317	0.521000	0.28445	0.650000	0.86243	CAA	SENP6	-	NULL	ENSG00000112701		0.313	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP6	HGNC	protein_coding	OTTHUMT00000041272.2	41	0.00	0	C	NM_015571		76385692	76385692	+1	no_errors	ENST00000370014	ensembl	human	known	69_37n	missense	26	33.33	13	SNP	1.000	G
SEPT7P2	641977	genome.wustl.edu	37	7	45797717	45797717	+	RNA	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:45797717G>A	ENST00000429741.1	-	0	455									septin 7 pseudogene 2																		GTTCACTTGCGATTCTGCATT	0.383																																						dbGAP											0																																										-	-	-			0			AL133216		7p12.3	2010-03-24	2010-03-24	2010-03-24	ENSG00000214765	ENSG00000214765			32339	pseudogene	pseudogene		611563	"""septin 7B"", ""septin 13"""	SEPT7B, SEPT13		15915442	Standard	NR_024271		Approved	DKFZp313J1114	uc003tnf.4		OTTHUMG00000155423		7.37:g.45797717G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000429741.1	37	NULL		7																																																																																			SEPT7P2	-	-	ENSG00000214765		0.383	SEPT7P2-001	KNOWN	basic	processed_transcript	SEPT7P2	HGNC	pseudogene	OTTHUMT00000340060.1	145	0.68	1	G	NR_024271		45797717	45797717	-1	no_errors	ENST00000338231	ensembl	human	known	69_37n	rna	136	12.82	20	SNP	1.000	A
HYPK	25764	genome.wustl.edu	37	15	44091854	44091854	+	5'UTR	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr15:44091854C>T	ENST00000406925.1	+	0	3515				SERF2_ENST00000409646.1_3'UTR|SERINC4_ENST00000299969.6_Intron|SERINC4_ENST00000319327.6_Intron|SERINC4_ENST00000249714.3_Intron|SERF2_ENST00000600633.1_5'Flank|SERF2_ENST00000594896.1_Intron|HYPK_ENST00000442995.2_5'Flank|SERF2_ENST00000409291.1_Missense_Mutation_p.R38C|RP11-296A16.1_ENST00000417761.2_5'Flank|HYPK_ENST00000458412.1_5'Flank			Q9NX55	HYPK_HUMAN	huntingtin interacting protein K							cytoplasm (GO:0005737)|nucleus (GO:0005634)							all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;8.1e-07)		TTGGGATTGCCGCCCACTGAC	0.478																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AF049613	CCDS10104.1	15q14	2012-10-08	2012-10-08	2012-10-08	ENSG00000242028	ENSG00000242028			18418	protein-coding gene	gene with protein product	"""Huntingtin yeast partner K"""	612784	"""chromosome 15 open reading frame 63"""	C15orf63		9700202, 20154145	Standard	NM_016400		Approved	HSPC136, FLJ20431	uc001ztf.3	Q9NX55	OTTHUMG00000060146	ENST00000406925.1:c.-597C>T	15.37:g.44091854C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JKJ0|O75408|Q8WUW8|Q9P024	Missense_Mutation	SNP	NULL	p.R38C	ENST00000406925.1	37	c.112	CCDS10104.1	15	.	.	.	.	.	.	.	.	.	.	C	9.963	1.223430	0.22457	.	.	ENSG00000140264	ENST00000409291	.	.	.	5.44	-2.64	0.06114	.	.	.	.	.	T	0.37100	0.0991	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.45775	-0.9238	5	0.87932	D	0	.	5.4812	0.16725	0.1394:0.3436:0.0:0.517	.	.	.	.	C	38	.	ENSP00000387041:R38C	R	+	1	0	SERF2	41879146	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.179000	0.03090	-0.314000	0.08716	0.655000	0.94253	CGC	SERF2	-	NULL	ENSG00000140264		0.478	HYPK-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SERF2	HGNC	protein_coding	OTTHUMT00000133876.3	40	0.00	0	C	NM_016400		44091854	44091854	+1	no_errors	ENST00000409291	ensembl	human	putative	69_37n	missense	36	18.18	8	SNP	0.000	T
SERINC2	347735	genome.wustl.edu	37	1	31896623	31896623	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:31896623C>G	ENST00000373709.3	+	2	273	c.123C>G	c.(121-123)atC>atG	p.I41M	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000373710.1_Missense_Mutation_p.I50M|SERINC2_ENST00000536859.1_Missense_Mutation_p.I45M|SERINC2_ENST00000536384.1_Missense_Mutation_p.I45M	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	41					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		GCCGCCTCATCTTCACGTTCT	0.657																																						dbGAP											0													76.0	78.0	77.0					1																	31896623		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.123C>G	1.37:g.31896623C>G	ENSP00000362813:p.Ile41Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	pfam_TMS_TDE	p.I50M	ENST00000373709.3	37	c.150	CCDS30662.1	1	.	.	.	.	.	.	.	.	.	.	C	4.410	0.075866	0.08485	.	.	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	4.8	3.86	0.44501	.	0.940606	0.09101	N	0.848549	T	0.07234	0.0183	N	0.05078	-0.115	0.38198	D	0.940105	B;B;B;B	0.10296	0.002;0.002;0.002;0.003	B;B;B;B	0.17979	0.02;0.02;0.02;0.02	T	0.09952	-1.0651	10	0.02654	T	1	-13.4507	13.8512	0.63499	0.1541:0.8459:0.0:0.0	.	45;50;45;41	B4DJK5;E7EUZ9;B7Z567;Q96SA4	.;.;.;SERC2_HUMAN	M	50;45;41;45	ENSP00000362814:I50M;ENSP00000444307:I45M;ENSP00000362813:I41M;ENSP00000439048:I45M	ENSP00000362813:I41M	I	+	3	3	SERINC2	31669210	0.947000	0.32204	0.996000	0.52242	0.193000	0.23685	1.971000	0.40530	1.187000	0.43000	0.655000	0.94253	ATC	SERINC2	-	pfam_TMS_TDE	ENSG00000168528		0.657	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC2	HGNC	protein_coding	OTTHUMT00000010680.1	39	0.00	0	C	NM_018565		31896623	31896623	+1	no_errors	ENST00000373710	ensembl	human	known	69_37n	missense	53	17.19	11	SNP	0.996	G
SERINC2	347735	genome.wustl.edu	37	1	31896632	31896632	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:31896632C>T	ENST00000373709.3	+	2	282	c.132C>T	c.(130-132)ttC>ttT	p.F44F	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000373710.1_Silent_p.F53F|SERINC2_ENST00000536859.1_Silent_p.F48F|SERINC2_ENST00000536384.1_Silent_p.F48F	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	44					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TCTTCACGTTCTTCCTCTTCC	0.667																																						dbGAP											0													82.0	84.0	83.0					1																	31896632		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.132C>T	1.37:g.31896632C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Silent	SNP	pfam_TMS_TDE	p.F53	ENST00000373709.3	37	c.159	CCDS30662.1	1																																																																																			SERINC2	-	pfam_TMS_TDE	ENSG00000168528		0.667	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC2	HGNC	protein_coding	OTTHUMT00000010680.1	42	0.00	0	C	NM_018565		31896632	31896632	+1	no_errors	ENST00000373710	ensembl	human	known	69_37n	silent	56	15.15	10	SNP	0.974	T
SERPINB10	5273	genome.wustl.edu	37	18	61585256	61585256	+	Missense_Mutation	SNP	G	G	C	rs200131187		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr18:61585256G>C	ENST00000238508.3	+	4	351	c.292G>C	c.(292-294)Gaa>Caa	p.E98Q		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	98					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				ACTTATCTCAGAAATCCTCAA	0.348																																						dbGAP											0													92.0	86.0	88.0					18																	61585256		2202	4300	6502	-	-	-	SO:0001583	missense	0			U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.292G>C	18.37:g.61585256G>C	ENSP00000238508:p.Glu98Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VAX4|Q4VAX7	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.E98Q	ENST00000238508.3	37	c.292	CCDS11990.1	18	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244333	0.59103	.	.	ENSG00000242550	ENST00000238508	D	0.84516	-1.86	5.82	4.94	0.65067	Serpin domain (3);	0.112392	0.64402	D	0.000011	D	0.88669	0.6499	L	0.55481	1.735	0.40557	D	0.981178	D	0.63880	0.993	P	0.60789	0.879	D	0.89198	0.3555	10	0.52906	T	0.07	.	13.0844	0.59132	0.0784:0.0:0.9216:0.0	.	98	P48595	SPB10_HUMAN	Q	98	ENSP00000238508:E98Q	ENSP00000238508:E98Q	E	+	1	0	SERPINB10	59736236	0.988000	0.35896	0.933000	0.37362	0.393000	0.30537	2.439000	0.44846	1.446000	0.47643	0.650000	0.86243	GAA	SERPINB10	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000242550		0.348	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB10	HGNC	protein_coding	OTTHUMT00000134012.3	49	0.00	0	G	NM_005024		61585256	61585256	+1	no_errors	ENST00000238508	ensembl	human	known	69_37n	missense	39	13.33	6	SNP	0.999	C
SERPINB10	5273	genome.wustl.edu	37	18	61602231	61602231	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr18:61602231C>T	ENST00000238508.3	+	8	1008	c.949C>T	c.(949-951)Caa>Taa	p.Q317*	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	317					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TGCCTTCAGCCAAAGCAAAGC	0.418																																						dbGAP											0													138.0	118.0	125.0					18																	61602231		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.949C>T	18.37:g.61602231C>T	ENSP00000238508:p.Gln317*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VAX4|Q4VAX7	Nonsense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.Q317*	ENST00000238508.3	37	c.949	CCDS11990.1	18	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274003	0.23221	.	.	ENSG00000242550	ENST00000238508	.	.	.	5.65	1.62	0.23740	.	0.936798	0.08975	N	0.866604	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	3.9223	0.09248	0.1204:0.5062:0.2345:0.1389	.	.	.	.	X	317	.	ENSP00000238508:Q317X	Q	+	1	0	SERPINB10	59753211	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.065000	0.11617	0.414000	0.25790	-0.150000	0.13652	CAA	SERPINB10	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000242550		0.418	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB10	HGNC	protein_coding	OTTHUMT00000134012.3	50	0.00	0	C	NM_005024		61602231	61602231	+1	no_errors	ENST00000238508	ensembl	human	known	69_37n	nonsense	41	26.79	15	SNP	0.000	T
SERPINB9	5272	genome.wustl.edu	37	6	2890790	2890790	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:2890790G>A	ENST00000380698.4	-	7	827	c.738C>T	c.(736-738)ctC>ctT	p.L246L		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	246					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TCTCAAAAGTGAGACTTTTTT	0.433																																						dbGAP											0													71.0	71.0	71.0					6																	2890790		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.738C>T	6.37:g.2890790G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBW3|Q5TD03	Silent	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom,prints_Serpin_B9/Maspin	p.L246	ENST00000380698.4	37	c.738	CCDS4478.1	6																																																																																			SERPINB9	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000170542		0.433	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB9	HGNC	protein_coding	OTTHUMT00000039656.1	25	0.00	0	G			2890790	2890790	-1	no_errors	ENST00000380698	ensembl	human	known	69_37n	silent	30	23.08	9	SNP	0.991	A
SERPINE1	5054	genome.wustl.edu	37	7	100773724	100773724	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:100773724C>T	ENST00000223095.4	+	3	451	c.294C>T	c.(292-294)ctC>ctT	p.L98L	SERPINE1_ENST00000445463.2_Silent_p.L83L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	98					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CCCCCGCCCTCCGGCATCTGT	0.607																																						dbGAP											0													90.0	89.0	90.0					7																	100773724		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.294C>T	7.37:g.100773724C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4S0|F8WD53	Silent	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.L98	ENST00000223095.4	37	c.294	CCDS5711.1	7																																																																																			SERPINE1	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000106366		0.607	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINE1	HGNC	protein_coding	OTTHUMT00000347458.1	51	0.00	0	C	NM_000602		100773724	100773724	+1	no_errors	ENST00000223095	ensembl	human	known	69_37n	silent	49	14.04	8	SNP	0.961	T
SETD2	29072	genome.wustl.edu	37	3	47122395	47122395	+	Intron	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:47122395C>T	ENST00000409792.3	-	12	6103				SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2						angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCACCTCTGTCCTCTTTTCAC	0.473			"""N, F, S, Mis"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										-	-	-	SO:0001627	intron_variant	0			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6060+2814G>A	3.37:g.47122395C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	RNA	SNP	-	NULL	ENST00000409792.3	37	NULL	CCDS2749.2	3																																																																																			SETD2	-	-	ENSG00000181555		0.473	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	31	0.00	0	C	NM_014159		47122395	47122395	-1	no_errors	ENST00000492397	ensembl	human	known	69_37n	rna	32	17.95	7	SNP	1.000	T
SETD2	29072	genome.wustl.edu	37	3	47122398	47122398	+	Intron	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:47122398C>T	ENST00000409792.3	-	12	6103				SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2						angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCTCTGTCCTCTTTTCACCTA	0.468			"""N, F, S, Mis"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										-	-	-	SO:0001627	intron_variant	0			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6060+2811G>A	3.37:g.47122398C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	RNA	SNP	-	NULL	ENST00000409792.3	37	NULL	CCDS2749.2	3																																																																																			SETD2	-	-	ENSG00000181555		0.468	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	30	0.00	0	C	NM_014159		47122398	47122398	-1	no_errors	ENST00000492397	ensembl	human	known	69_37n	rna	32	17.95	7	SNP	1.000	T
SETD2	29072	genome.wustl.edu	37	3	47122419	47122419	+	Intron	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:47122419C>T	ENST00000409792.3	-	12	6103				SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2						angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTATATTTTTCATGCATCATC	0.453			"""N, F, S, Mis"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										-	-	-	SO:0001627	intron_variant	0			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6060+2790G>A	3.37:g.47122419C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	RNA	SNP	-	NULL	ENST00000409792.3	37	NULL	CCDS2749.2	3																																																																																			SETD2	-	-	ENSG00000181555		0.453	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	33	0.00	0	C	NM_014159		47122419	47122419	-1	no_errors	ENST00000492397	ensembl	human	known	69_37n	rna	34	17.07	7	SNP	1.000	T
SGPL1	8879	genome.wustl.edu	37	10	72604358	72604358	+	Silent	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr10:72604358G>C	ENST00000373202.3	+	3	356	c.156G>C	c.(154-156)ctG>ctC	p.L52L		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	52					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						GGACCCTGCTGATAGTCTGGG	0.453																																					Colon(151;1054 2458 6676 40971)	dbGAP											0													163.0	146.0	152.0					10																	72604358		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.156G>C	10.37:g.72604358G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Silent	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.L52	ENST00000373202.3	37	c.156	CCDS31216.1	10																																																																																			SGPL1	-	NULL	ENSG00000166224		0.453	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPL1	HGNC	protein_coding	OTTHUMT00000048533.1	51	0.00	0	G	NM_003901		72604358	72604358	+1	no_errors	ENST00000373202	ensembl	human	known	69_37n	silent	72	11.11	9	SNP	0.914	C
SH2B2	10603	genome.wustl.edu	37	7	101943912	101943912	+	Silent	SNP	C	C	T	rs2694150		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:101943912C>T	ENST00000536178.1	+	2	252	c.207C>T	c.(205-207)ttC>ttT	p.F69F	SH2B2_ENST00000306803.8_Silent_p.F26F			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	26					actin cytoskeleton organization (GO:0030036)|antigen receptor-mediated signaling pathway (GO:0050851)|B-1 B cell homeostasis (GO:0001922)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cytokine-mediated signaling pathway (GO:0019221)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|regulation of JAK-STAT cascade (GO:0046425)|regulation of metabolic process (GO:0019222)|regulation of Ras protein signal transduction (GO:0046578)|signal transduction (GO:0007165)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stress fiber (GO:0001725)	JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						GGCGGCAGTTCTGCGAGCTGC	0.716																																						dbGAP											0													10.0	13.0	12.0					7																	101943912		1781	3845	5626	-	-	-	SO:0001819	synonymous_variant	0			AB000520		7q22.1	2013-02-14			ENSG00000160999	ENSG00000160999		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	17381	protein-coding gene	gene with protein product	"""adaptor protein with pleckstrin homology and src"""	605300				9233773	Standard	XM_005276976		Approved	APS	uc011kko.2	O14492	OTTHUMG00000150652	ENST00000536178.1:c.207C>T	7.37:g.101943912C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND74	Silent	SNP	pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,prints_SH2,pfscan_Pleckstrin_homology,pfscan_SH2	p.F69	ENST00000536178.1	37	c.207		7																																																																																			SH2B2	-	pfam_Phe_ZIP,superfamily_Phe_ZIP	ENSG00000160999		0.716	SH2B2-202	KNOWN	basic|appris_candidate_longest	protein_coding	SH2B2	HGNC	protein_coding		11	0.00	0	C	NM_020979		101943912	101943912	+1	no_errors	ENST00000536178	ensembl	human	known	69_37n	silent	11	38.89	7	SNP	1.000	T
SH3RF1	57630	genome.wustl.edu	37	4	170037744	170037744	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:170037744C>T	ENST00000284637.9	-	10	2156	c.1815G>A	c.(1813-1815)gtG>gtA	p.V605V	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	605					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GGATGGGTGTCACTGCTGCCG	0.572																																						dbGAP											0													43.0	49.0	47.0					4																	170037744		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1815G>A	4.37:g.170037744C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05BT2|Q8IW46|Q9HAM2|Q9P234	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain	p.V605	ENST00000284637.9	37	c.1815	CCDS34099.1	4																																																																																			SH3RF1	-	NULL	ENSG00000154447		0.572	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3RF1	HGNC	protein_coding	OTTHUMT00000363382.3	49	0.00	0	C	NM_020870		170037744	170037744	-1	no_errors	ENST00000284637	ensembl	human	known	69_37n	silent	28	33.33	14	SNP	1.000	T
SIGLEC1	6614	genome.wustl.edu	37	20	3686615	3686615	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:3686615G>A	ENST00000344754.4	-	3	481	c.482C>T	c.(481-483)tCc>tTc	p.S161F	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S161F	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	161	Ig-like C2-type 1.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTAGGGAGTGGAGCAGTTGAA	0.612																																						dbGAP											0													96.0	90.0	92.0					20																	3686615		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.482C>T	20.37:g.3686615G>A	ENSP00000341141:p.Ser161Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S161F	ENST00000344754.4	37	c.482	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631686	0.67015	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.78126	-1.15;-1.15	5.21	5.21	0.72293	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39687	N	0.001287	D	0.86418	0.5928	L	0.61036	1.89	0.40145	D	0.97687	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.994	D	0.87902	0.2691	10	0.66056	D	0.02	.	16.246	0.82445	0.0:0.0:1.0:0.0	.	161;161;161	Q9BZZ2-2;Q9BZZ2;Q9BZZ2-3	.;SN_HUMAN;.	F	161	ENSP00000341141:S161F;ENSP00000202578:S161F	ENSP00000202578:S161F	S	-	2	0	SIGLEC1	3634615	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	2.784000	0.47774	2.435000	0.82474	0.462000	0.41574	TCC	SIGLEC1	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000088827		0.612	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	46	0.00	0	G	NM_023068		3686615	3686615	-1	no_errors	ENST00000344754	ensembl	human	known	69_37n	missense	46	17.86	10	SNP	1.000	A
SIGLEC11	114132	genome.wustl.edu	37	19	50463852	50463852	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:50463852C>T	ENST00000447370.2	-	2	507	c.417G>A	c.(415-417)gtG>gtA	p.V139V	CTC-326K19.6_ENST00000451973.1_5'Flank|SIGLEC11_ENST00000426971.2_Silent_p.V139V	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	139					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.V127V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AACTATGTCTCACACGGCTTC	0.567																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											39.0	58.0	52.0					19																	50463852		2000	4294	6294	-	-	-	SO:0001819	synonymous_variant	0			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.417G>A	19.37:g.50463852C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V139	ENST00000447370.2	37	c.417	CCDS12790.2	19																																																																																			SIGLEC11	-	smart_Ig_sub	ENSG00000161640		0.567	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC11	HGNC	protein_coding	OTTHUMT00000347382.1	64	0.00	0	C	NM_052884		50463852	50463852	-1	no_errors	ENST00000447370	ensembl	human	known	69_37n	silent	72	10.00	8	SNP	0.001	T
SIM1	6492	genome.wustl.edu	37	6	100896443	100896443	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:100896443G>C	ENST00000369208.3	-	7	1437	c.655C>G	c.(655-657)Ccc>Gcc	p.P219A	SIM1_ENST00000262901.4_Missense_Mutation_p.P219A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	219	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ACGGCGCTGGGAGGCAGCGAG	0.602																																						dbGAP											0													59.0	52.0	54.0					6																	100896443		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.655C>G	6.37:g.100896443G>C	ENSP00000358210:p.Pro219Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDP7	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd	p.P219A	ENST00000369208.3	37	c.655	CCDS5045.1	6	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352218	0.82132	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.27402	1.67;1.67	5.57	4.7	0.59300	.	0.094831	0.85682	D	0.000000	T	0.29389	0.0732	M	0.77103	2.36	0.80722	D	1	P	0.42010	0.768	P	0.45232	0.474	T	0.09400	-1.0676	10	0.41790	T	0.15	.	14.0828	0.64937	0.0717:0.0:0.9283:0.0	.	219	P81133	SIM1_HUMAN	A	219	ENSP00000358210:P219A;ENSP00000262901:P219A	ENSP00000262901:P219A	P	-	1	0	SIM1	101003164	1.000000	0.71417	0.986000	0.45419	0.967000	0.64934	9.476000	0.97823	1.351000	0.45789	0.655000	0.94253	CCC	SIM1	-	NULL	ENSG00000112246		0.602	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	HGNC	protein_coding	OTTHUMT00000041628.3	57	0.00	0	G	NM_005068		100896443	100896443	-1	no_errors	ENST00000262901	ensembl	human	known	69_37n	missense	49	30.99	22	SNP	1.000	C
SIRT7	51547	genome.wustl.edu	37	17	79875438	79875438	+	Intron	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:79875438G>A	ENST00000328666.6	-	3	399					NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7						histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGTTTTTCGCGATTACTGGAG	0.493																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7"", ""sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"""			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.336+52C>T	17.37:g.79875438G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	SNP	pfam_NAD-dep_deAcase_sirtuin,pfscan_NAD-dep_deAcase_sirtuin	p.R6C	ENST00000328666.6	37	c.16	CCDS11792.1	17																																																																																			SIRT7	-	NULL	ENSG00000187531		0.493	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT7	HGNC	protein_coding	OTTHUMT00000439961.1	43	0.00	0	G	NM_016538		79875438	79875438	-1	no_errors	ENST00000576004	ensembl	human	putative	69_37n	missense	56	33.33	28	SNP	0.000	A
SKI	6497	genome.wustl.edu	37	1	2236018	2236018	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:2236018C>T	ENST00000378536.4	+	5	1833	c.1761C>T	c.(1759-1761)ctC>ctT	p.L587L		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	587					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		AGCGCAGCCTCCACCAGGTGA	0.642																																					Ovarian(177;144 1678 13697 20086 27838 40755)	dbGAP											0													18.0	13.0	15.0					1																	2236018		2176	4257	6433	-	-	-	SO:0001819	synonymous_variant	0			X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1761C>T	1.37:g.2236018C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SYT7	Silent	SNP	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.L587	ENST00000378536.4	37	c.1761	CCDS39.1	1																																																																																			SKI	-	NULL	ENSG00000157933		0.642	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKI	HGNC	protein_coding	OTTHUMT00000004070.1	52	0.00	0	C	NM_003036		2236018	2236018	+1	no_errors	ENST00000378536	ensembl	human	known	69_37n	silent	52	16.13	10	SNP	0.004	T
SKOR1	390598	genome.wustl.edu	37	15	68122549	68122549	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr15:68122549C>T	ENST00000380035.2	+	4	2486	c.2428C>T	c.(2428-2430)Cac>Tac	p.H810Y	SKOR1_ENST00000389002.1_Missense_Mutation_p.H766Y|SKOR1_ENST00000554054.1_Missense_Mutation_p.H782Y|RP11-34F13.3_ENST00000558889.1_RNA|SKOR1_ENST00000341418.5_Missense_Mutation_p.H713Y|SKOR1_ENST00000554240.1_Missense_Mutation_p.H771Y			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	810					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GGAAGACAATCACTCGCCCGC	0.542																																						dbGAP											0													71.0	64.0	66.0					15																	68122549		2200	4298	6498	-	-	-	SO:0001583	missense	0				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2428C>T	15.37:g.68122549C>T	ENSP00000369374:p.His810Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.H810Y	ENST00000380035.2	37	c.2428		15	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773013	0.90108	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.79	5.79	0.91817	.	0.182513	0.47852	D	0.000215	T	0.50633	0.1627	L	0.32530	0.975	0.38049	D	0.935712	P	0.51057	0.941	P	0.58266	0.836	T	0.40869	-0.9540	10	0.28530	T	0.3	-33.9792	18.5901	0.91208	0.0:1.0:0.0:0.0	.	766	P84550-3	.	Y	713;771;782;810;766	ENSP00000343200:H713Y;ENSP00000451193:H771Y;ENSP00000452361:H782Y;ENSP00000369374:H810Y;ENSP00000373654:H766Y	ENSP00000343200:H713Y	H	+	1	0	SKOR1	65909603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.660000	0.54496	2.735000	0.93741	0.655000	0.94253	CAC	SKOR1	-	NULL	ENSG00000188779		0.542	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1	43	0.00	0	C	NM_001031807		68122549	68122549	+1	no_errors	ENST00000380035	ensembl	human	known	69_37n	missense	37	15.91	7	SNP	1.000	T
SLC10A6	345274	genome.wustl.edu	37	4	87745030	87745030	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:87745030C>T	ENST00000273905.6	-	6	1092	c.945G>A	c.(943-945)ttG>ttA	p.L315L	SLC10A6_ENST00000505535.1_5'Flank	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	315					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GTTTGTTCTTCAATCTCCTCT	0.393																																						dbGAP											0													209.0	183.0	192.0					4																	87745030		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.945G>A	4.37:g.87745030C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q70EX7	Silent	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.L315	ENST00000273905.6	37	c.945	CCDS3614.1	4																																																																																			SLC10A6	-	tigrfam_Bil_ac_transpt	ENSG00000145283		0.393	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A6	HGNC	protein_coding	OTTHUMT00000253043.2	78	0.00	0	C	NM_197965		87745030	87745030	-1	no_errors	ENST00000273905	ensembl	human	known	69_37n	silent	88	19.27	21	SNP	0.797	T
SLC10A6	345274	genome.wustl.edu	37	4	87745039	87745039	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:87745039C>G	ENST00000273905.6	-	6	1083	c.936G>C	c.(934-936)aaG>aaC	p.K312N	SLC10A6_ENST00000505535.1_5'Flank	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	312					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TCAATCTCCTCTTGTACGTCT	0.393																																						dbGAP											0													189.0	166.0	174.0					4																	87745039		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.936G>C	4.37:g.87745039C>G	ENSP00000273905:p.Lys312Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q70EX7	Missense_Mutation	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.K312N	ENST00000273905.6	37	c.936	CCDS3614.1	4	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344695	0.61073	.	.	ENSG00000145283	ENST00000273905	T	0.08458	3.09	5.3	4.46	0.54185	.	0.222949	0.38111	N	0.001818	T	0.16041	0.0386	L	0.46157	1.445	0.31668	N	0.644729	D	0.67145	0.996	P	0.59487	0.858	T	0.04737	-1.0930	10	0.33940	T	0.23	-15.5597	9.8894	0.41281	0.0:0.9082:0.0:0.0918	.	312	Q3KNW5	SOAT_HUMAN	N	312	ENSP00000273905:K312N	ENSP00000273905:K312N	K	-	3	2	SLC10A6	87964063	0.979000	0.34478	1.000000	0.80357	0.807000	0.45602	0.140000	0.16056	1.485000	0.48380	0.585000	0.79938	AAG	SLC10A6	-	tigrfam_Bil_ac_transpt	ENSG00000145283		0.393	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A6	HGNC	protein_coding	OTTHUMT00000253043.2	75	0.00	0	C	NM_197965		87745039	87745039	-1	no_errors	ENST00000273905	ensembl	human	known	69_37n	missense	90	18.92	21	SNP	1.000	G
SLC22A10	387775	genome.wustl.edu	37	11	63064904	63064904	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:63064904C>T	ENST00000332793.6	+	3	638	c.636C>T	c.(634-636)atC>atT	p.I212I	SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000544661.1_Silent_p.I57I|SLC22A10_ENST00000535888.1_Silent_p.I2I	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	212						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	CTTCCATGATCATTATATCAA	0.398																																						dbGAP											0													150.0	148.0	149.0					11																	63064904		1965	4158	6123	-	-	-	SO:0001819	synonymous_variant	0			AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.636C>T	11.37:g.63064904C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68CJ0	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I212	ENST00000332793.6	37	c.636	CCDS41661.1	11																																																																																			SLC22A10	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000184999		0.398	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A10	HGNC	protein_coding	OTTHUMT00000382622.3	42	0.00	0	C	NM_001039752		63064904	63064904	+1	no_errors	ENST00000332793	ensembl	human	known	69_37n	silent	39	25.00	13	SNP	0.002	T
SLC25A12	8604	genome.wustl.edu	37	2	172641902	172641902	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:172641902C>T	ENST00000422440.2	-	18	1956	c.1919G>A	c.(1918-1920)aGa>aAa	p.R640K	SLC25A12_ENST00000392592.4_Missense_Mutation_p.R533K	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	640					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TGTGGCGAGTCTGTATCCACC	0.488																																						dbGAP											0													180.0	166.0	171.0					2																	172641902		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1919G>A	2.37:g.172641902C>T	ENSP00000388658:p.Arg640Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR64|Q96AM8	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.R640K	ENST00000422440.2	37	c.1919	CCDS33327.1	2	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819125	0.32145	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.78126	-1.15;-1.12	6.02	5.15	0.70609	.	0.044849	0.85682	D	0.000000	T	0.68421	0.2999	L	0.33485	1.01	0.47621	D	0.999472	B;B	0.11235	0.004;0.004	B;B	0.15052	0.012;0.012	T	0.62397	-0.6863	10	0.21540	T	0.41	-17.1071	15.4976	0.75666	0.0:0.9337:0.0:0.0663	.	533;640	B3KR64;O75746	.;CMC1_HUMAN	K	640;533	ENSP00000388658:R640K;ENSP00000376371:R533K	ENSP00000376371:R533K	R	-	2	0	SLC25A12	172350148	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.298000	0.51818	1.548000	0.49413	0.650000	0.86243	AGA	SLC25A12	-	NULL	ENSG00000115840		0.488	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A12	HGNC	protein_coding	OTTHUMT00000259010.2	68	0.00	0	C	NM_003705		172641902	172641902	-1	no_errors	ENST00000422440	ensembl	human	known	69_37n	missense	64	30.43	28	SNP	1.000	T
SLC25A6	293	genome.wustl.edu	37	X	1510815	1510815	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:1510815C>G	ENST00000381401.5	-	1	802	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	30					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	TTGACCCGCTCGATCGGAGCC	0.716																																						dbGAP											0													23.0	24.0	24.0					X																	1510815		2195	4290	6485	-	-	-	SO:0001583	missense	0			AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.88G>C	X.37:g.1510815C>G	ENSP00000370808:p.Glu30Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96C49	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling	p.E30Q	ENST00000381401.5	37	c.88	CCDS14114.1	X	.	.	.	.	.	.	.	.	.	.	c	12.48	1.950244	0.34377	.	.	ENSG00000169100	ENST00000381401;ENST00000447786	T	0.80304	-1.36	1.54	-3.08	0.05347	Mitochondrial carrier domain (2);	0.122581	0.30930	U	0.008583	D	0.90728	0.7090	H	0.98951	4.38	0.09310	N	1	D	0.62365	0.991	D	0.64042	0.921	D	0.83768	0.0218	10	0.87932	D	0	.	6.3313	0.21272	0.3399:0.4909:0.1693:0.0	.	30	P12236	ADT3_HUMAN	Q	30	ENSP00000370808:E30Q	ENSP00000370808:E30Q	E	-	1	0	SLC25A6	1470815	1.000000	0.71417	0.216000	0.23742	0.102000	0.19082	5.401000	0.66326	-1.762000	0.01308	-0.941000	0.02677	GAG	SLC25A6	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	ENSG00000169100		0.716	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A6	HGNC	protein_coding	OTTHUMT00000055596.1	58	0.00	0	C	NM_001636		1510815	1510815	-1	no_errors	ENST00000381401	ensembl	human	known	69_37n	missense	74	22.11	21	SNP	1.000	G
SLC26A4	5172	genome.wustl.edu	37	7	107329554	107329554	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:107329554C>G	ENST00000265715.3	+	9	1282	c.1058C>G	c.(1057-1059)tCa>tGa	p.S353*	SLC26A4_ENST00000541474.1_5'Flank|SLC26A4_ENST00000544569.1_5'Flank	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	353					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTGGCTGCATCATTTTCCATC	0.453									Pendred syndrome																													dbGAP											0													166.0	154.0	158.0					7																	107329554		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1058C>G	7.37:g.107329554C>G	ENSP00000265715:p.Ser353*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z266|O43170	Nonsense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.S353*	ENST00000265715.3	37	c.1058	CCDS5746.1	7	.	.	.	.	.	.	.	.	.	.	C	39	7.785352	0.98489	.	.	ENSG00000091137	ENST00000265715	.	.	.	5.62	5.62	0.85841	.	0.262720	0.32769	N	0.005670	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6596	0.95859	0.0:1.0:0.0:0.0	.	.	.	.	X	353	.	ENSP00000265715:S353X	S	+	2	0	SLC26A4	107116790	.	.	0.152000	0.22495	0.963000	0.63663	.	.	2.648000	0.89879	0.561000	0.74099	TCA	SLC26A4	-	pfam_Sulph_transpt,tigrfam_SulP_transpt	ENSG00000091137		0.453	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A4	HGNC	protein_coding	OTTHUMT00000337148.1	65	0.00	0	C	NM_000441		107329554	107329554	+1	no_errors	ENST00000265715	ensembl	human	known	69_37n	nonsense	60	14.29	10	SNP	0.923	G
SLC35F1	222553	genome.wustl.edu	37	6	118596740	118596740	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:118596740G>A	ENST00000360388.4	+	5	957	c.756G>A	c.(754-756)atG>atA	p.M252I		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	252					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCCTGGGAATGATTGGTCTCT	0.403																																						dbGAP											0													110.0	108.0	109.0					6																	118596740		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.756G>A	6.37:g.118596740G>A	ENSP00000353557:p.Met252Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	pfam_DUF914_euk,pfam_DMT	p.M252I	ENST00000360388.4	37	c.756	CCDS34524.1	6	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021154	0.93462	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.07	5.07	0.68467	.	0.041482	0.85682	D	0.000000	T	0.79015	0.4375	M	0.82323	2.585	0.80722	D	1	D	0.56035	0.974	D	0.64877	0.93	T	0.75912	-0.3150	9	0.32370	T	0.25	.	18.9978	0.92819	0.0:0.0:1.0:0.0	.	252	Q5T1Q4	S35F1_HUMAN	I	252	.	ENSP00000353557:M252I	M	+	3	0	SLC35F1	118703433	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.157000	0.94714	2.780000	0.95670	0.655000	0.94253	ATG	SLC35F1	-	pfam_DUF914_euk,pfam_DMT	ENSG00000196376		0.403	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F1	HGNC	protein_coding	OTTHUMT00000041991.2	90	0.00	0	G	XM_167044		118596740	118596740	+1	no_errors	ENST00000360388	ensembl	human	known	69_37n	missense	83	15.31	15	SNP	1.000	A
SLC39A12	221074	genome.wustl.edu	37	10	18254617	18254617	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr10:18254617C>G	ENST00000377369.2	+	4	1022	c.749C>G	c.(748-750)tCa>tGa	p.S250*	SLC39A12_ENST00000539911.1_Nonsense_Mutation_p.S116*|SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.S250*|SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.S250*	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	250					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CTCCGCCTATCAGGTAAGGAT	0.418																																						dbGAP											0													40.0	39.0	39.0					10																	18254617		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.749C>G	10.37:g.18254617C>G	ENSP00000366586:p.Ser250*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Nonsense_Mutation	SNP	pfam_ZIP	p.S250*	ENST00000377369.2	37	c.749	CCDS44362.1	10	.	.	.	.	.	.	.	.	.	.	C	40	7.924152	0.98563	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	.	.	.	5.81	4.86	0.63082	.	0.841724	0.10993	N	0.611431	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-1.8601	15.7065	0.77588	0.1373:0.8627:0.0:0.0	.	.	.	.	X	250;250;250;116;170	.	ENSP00000366586:S250X	S	+	2	0	SLC39A12	18294623	0.017000	0.18338	0.040000	0.18447	0.976000	0.68499	2.770000	0.47662	2.756000	0.94617	0.655000	0.94253	TCA	SLC39A12	-	NULL	ENSG00000148482		0.418	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A12	HGNC	protein_coding		37	0.00	0	C	NM_152725		18254617	18254617	+1	no_errors	ENST00000377369	ensembl	human	known	69_37n	nonsense	38	13.64	6	SNP	0.350	G
SLC39A5	283375	genome.wustl.edu	37	12	56629024	56629024	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:56629024C>T	ENST00000266980.4	+	5	1011	c.718C>T	c.(718-720)Cgt>Tgt	p.R240C	SLC39A5_ENST00000454355.2_Missense_Mutation_p.R240C|ANKRD52_ENST00000548241.1_5'Flank	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	240					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTGGGACCTCGTCTACTACG	0.637																																						dbGAP											0													103.0	109.0	107.0					12																	56629024		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.718C>T	12.37:g.56629024C>T	ENSP00000266980:p.Arg240Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R808|Q8N6Y3	Missense_Mutation	SNP	pfam_ZIP	p.R240C	ENST00000266980.4	37	c.718	CCDS8912.2	12	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127329	0.37533	.	.	ENSG00000139540	ENST00000454355;ENST00000436633;ENST00000266980	T;T;T	0.64803	0.69;-0.12;0.69	4.44	4.44	0.53790	.	0.479552	0.19749	N	0.106943	T	0.67951	0.2948	M	0.68952	2.095	0.32708	N	0.511942	D;D	0.56287	0.975;0.975	P;P	0.51229	0.663;0.471	T	0.77327	-0.2629	10	0.56958	D	0.05	-17.7849	12.488	0.55885	0.1681:0.8319:0.0:0.0	.	240;131	Q6ZMH5;B4DPG8	S39A5_HUMAN;.	C	240;211;240	ENSP00000405360:R240C;ENSP00000391711:R211C;ENSP00000266980:R240C	ENSP00000266980:R240C	R	+	1	0	SLC39A5	54915291	0.002000	0.14202	0.987000	0.45799	0.292000	0.27327	0.647000	0.24812	2.420000	0.82092	0.561000	0.74099	CGT	SLC39A5	-	pfam_ZIP	ENSG00000139540		0.637	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A5	HGNC	protein_coding	OTTHUMT00000346834.1	53	0.00	0	C	NM_173596		56629024	56629024	+1	no_errors	ENST00000266980	ensembl	human	known	69_37n	missense	63	14.86	11	SNP	0.542	T
SLC45A3	85414	genome.wustl.edu	37	1	205627918	205627918	+	3'UTR	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:205627918G>C	ENST00000367145.3	-	0	2401				SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCCCATGCAAGAGCTACATTA	0.453			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP		Dom	yes		1	1q32	85414	"""solute carrier family 45, member 3"""		E	0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.*444C>G	1.37:g.205627918G>C		Somatic	2153	WXS	Illumina GAIIx	Phase_IV	A8K2U9	RNA	SNP	-	NULL	ENST00000367145.3	37	NULL	CCDS1458.1	1																																																																																			SLC45A3	-	-	ENSG00000158715		0.453	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A3	HGNC	protein_coding	OTTHUMT00000090619.1	44	0.00	0	G	NM_033102		205627918	205627918	-1	no_errors	ENST00000460934	ensembl	human	known	69_37n	rna	60	31.03	27	SNP	0.016	C
SLC6A14	11254	genome.wustl.edu	37	X	115585533	115585533	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:115585533G>A	ENST00000371900.4	+	10	1417	c.1329G>A	c.(1327-1329)atG>atA	p.M443I		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	443					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CCAAAGTGATGAAGAAAATGA	0.373																																						dbGAP											0													175.0	129.0	144.0					X																	115585533		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1329G>A	X.37:g.115585533G>A	ENSP00000360967:p.Met443Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H942	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.M443I	ENST00000371900.4	37	c.1329	CCDS14570.1	X	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839543	0.51057	.	.	ENSG00000087916	ENST00000371900	T	0.73575	-0.76	5.48	5.48	0.80851	.	0.085190	0.85682	D	0.000000	T	0.60405	0.2266	N	0.10874	0.06	0.43750	D	0.996252	P	0.41345	0.746	B	0.41988	0.372	T	0.63829	-0.6548	10	0.34782	T	0.22	.	15.5985	0.76606	0.0:0.0:1.0:0.0	.	443	Q9UN76	S6A14_HUMAN	I	443	ENSP00000360967:M443I	ENSP00000360967:M443I	M	+	3	0	SLC6A14	115499561	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.653000	0.67967	2.279000	0.76181	0.538000	0.68166	ATG	SLC6A14	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000087916		0.373	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A14	HGNC	protein_coding	OTTHUMT00000057986.1	68	0.00	0	G			115585533	115585533	+1	no_errors	ENST00000371900	ensembl	human	known	69_37n	missense	71	13.41	11	SNP	1.000	A
SLC9A5	6553	genome.wustl.edu	37	16	67298294	67298294	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:67298294G>A	ENST00000299798.11	+	13	1947	c.1882G>A	c.(1882-1884)Gcg>Acg	p.A628T	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	628					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CTCAGAGGATGCGCAGGAGCG	0.572																																						dbGAP											0													29.0	33.0	32.0					16																	67298294		2185	4290	6475	-	-	-	SO:0001583	missense	0				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1882G>A	16.37:g.67298294G>A	ENSP00000299798:p.Ala628Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKY7|Q9Y626	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.A628T	ENST00000299798.11	37	c.1882	CCDS42178.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.57|13.57	2.277450|2.277450	0.40294|0.40294	.|.	.|.	ENSG00000135740|ENSG00000135740	ENST00000299798|ENST00000360183	T|.	0.55413|.	0.52|.	5.33|5.33	4.35|4.35	0.52113|0.52113	.|.	0.392549|.	0.27210|.	N|.	0.020404|.	T|T	0.19765|0.19765	0.0475|0.0475	N|N	0.03154|0.03154	-0.405|-0.405	0.22156|0.22156	N|N	0.999325|0.999325	B|.	0.25105|.	0.118|.	B|.	0.23852|.	0.049|.	T|T	0.15065|0.15065	-1.0450|-1.0450	10|6	0.14656|0.66056	T|D	0.56|0.02	.|.	8.8489|8.8489	0.35188|0.35188	0.0869:0.1543:0.7587:0.0|0.0869:0.1543:0.7587:0.0	.|.	628|.	Q14940|.	SL9A5_HUMAN|.	T|I	628|141	ENSP00000299798:A628T|.	ENSP00000299798:A628T|ENSP00000353311:M141I	A|M	+|+	1|3	0|0	SLC9A5|SLC9A5	65855795|65855795	1.000000|1.000000	0.71417|0.71417	0.938000|0.938000	0.37757|0.37757	0.959000|0.959000	0.62525|0.62525	2.950000|2.950000	0.49081|0.49081	1.344000|1.344000	0.45657|0.45657	0.561000|0.561000	0.74099|0.74099	GCG|ATG	SLC9A5	-	tigrfam_NaH_exchanger	ENSG00000135740		0.572	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A5	HGNC	protein_coding	OTTHUMT00000421386.1	44	0.00	0	G			67298294	67298294	+1	no_errors	ENST00000299798	ensembl	human	known	69_37n	missense	40	34.92	22	SNP	0.653	A
SMARCA2	6595	genome.wustl.edu	37	9	2039490	2039490	+	Missense_Mutation	SNP	C	C	T	rs267602196		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:2039490C>T	ENST00000382203.1	+	4	589	c.380C>T	c.(379-381)cCa>cTa	p.P127L	SMARCA2_ENST00000357248.2_Missense_Mutation_p.P127L|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_Missense_Mutation_p.P127L|SMARCA2_ENST00000382194.1_Missense_Mutation_p.P127L			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	127					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CACCCATCTCCATTAGGAGCC	0.522																																						dbGAP											0													78.0	85.0	82.0					9																	2039490		2203	4300	6503	-	-	-	SO:0001583	missense	0			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.380C>T	9.37:g.2039490C>T	ENSP00000371638:p.Pro127Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.P127L	ENST00000382203.1	37	c.380	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984117	0.93044	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000439732;ENST00000382203;ENST00000382194	D;D;T;D;D	0.88975	-2.45;-2.45;0.42;-2.45;-2.45	5.46	5.46	0.80206	.	0.071375	0.64402	N	0.000017	D	0.93035	0.7783	L	0.52573	1.65	0.80722	D	1	D;D	0.63046	0.992;0.987	D;D	0.75020	0.985;0.966	D	0.93318	0.6690	10	0.66056	D	0.02	-8.0945	19.2963	0.94124	0.0:1.0:0.0:0.0	.	127;127	P51531-2;P51531	.;SMCA2_HUMAN	L	127	ENSP00000265773:P127L;ENSP00000349788:P127L;ENSP00000392081:P127L;ENSP00000371638:P127L;ENSP00000371629:P127L	ENSP00000265773:P127L	P	+	2	0	SMARCA2	2029490	1.000000	0.71417	0.952000	0.39060	0.949000	0.60115	7.818000	0.86416	2.562000	0.86427	0.655000	0.94253	CCA	SMARCA2	-	NULL	ENSG00000080503		0.522	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	34	0.00	0	C	NM_003070		2039490	2039490	+1	no_errors	ENST00000349721	ensembl	human	known	69_37n	missense	50	15.25	9	SNP	1.000	T
SMC2	10592	genome.wustl.edu	37	9	106889684	106889684	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:106889684G>A	ENST00000286398.7	+	20	3001	c.2713G>A	c.(2713-2715)Gat>Aat	p.D905N	SMC2_ENST00000374787.3_Missense_Mutation_p.D905N|SMC2_ENST00000303219.8_Missense_Mutation_p.D905N|SMC2_ENST00000374793.3_Missense_Mutation_p.D905N	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	905					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GCAAAACAATGATTCTCAGCT	0.388																																						dbGAP											0													157.0	148.0	151.0					9																	106889684		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2713G>A	9.37:g.106889684G>A	ENSP00000286398:p.Asp905Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEE0|Q9P1P2	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	p.D905N	ENST00000286398.7	37	c.2713	CCDS35086.1	9	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851749	0.51270	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.77750	-0.26;-0.26;-1.12;-0.26	5.84	3.67	0.42095	RecF/RecN/SMC (1);	0.418564	0.29172	N	0.012938	T	0.68229	0.2978	L	0.36672	1.1	0.31969	N	0.607444	B	0.09022	0.002	B	0.15052	0.012	T	0.70400	-0.4882	10	0.45353	T	0.12	-1.2605	12.4461	0.55651	0.1634:0.0:0.8366:0.0	.	905	O95347	SMC2_HUMAN	N	905	ENSP00000286398:D905N;ENSP00000363925:D905N;ENSP00000306152:D905N;ENSP00000363919:D905N	ENSP00000286398:D905N	D	+	1	0	SMC2	105929505	1.000000	0.71417	0.991000	0.47740	0.923000	0.55619	7.219000	0.78000	1.462000	0.47948	0.650000	0.86243	GAT	SMC2	-	pfam_RecF/RecN/SMC	ENSG00000136824		0.388	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1	42	0.00	0	G			106889684	106889684	+1	no_errors	ENST00000286398	ensembl	human	known	69_37n	missense	36	12.20	5	SNP	1.000	A
TRNAU1AP	54952	genome.wustl.edu	37	1	28907388	28907388	+	IGR	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:28907388G>C	ENST00000373830.3	+	0	1793				SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000475441.1_RNA|SNORD99_ENST00000408612.1_RNA|SNHG12_ENST00000488745.1_RNA|SNHG12_ENST00000384342.1_RNA|SNHG12_ENST00000384584.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000384581.1_RNA	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1						selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						AGCCCATTTTGATAAAGGTCT	0.463																																						dbGAP											0													117.0	114.0	115.0					1																	28907388		876	1991	2867	-	-	-	SO:0001628	intergenic_variant	0				CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653		1.37:g.28907388G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86SU7	RNA	SNP	-	NULL	ENST00000373830.3	37	NULL	CCDS324.1	1																																																																																			SNHG12	-	-	ENSG00000197989		0.463	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNHG12	HGNC	protein_coding	OTTHUMT00000010346.1	38	0.00	0	G	NM_017846		28907388	28907388	-1	no_errors	ENST00000464612	ensembl	human	known	69_37n	rna	42	20.75	11	SNP	0.000	C
SMG7	9887	genome.wustl.edu	37	1	183522252	183522252	+	3'UTR	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:183522252C>G	ENST00000347615.2	+	0	4719				SMG7_ENST00000515829.2_3'UTR|SMG7_ENST00000367537.3_3'UTR|SMG7_ENST00000507469.1_Missense_Mutation_p.F1151L	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GAGTGAAATTCAAGGCAGCAC	0.507																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.*1186C>G	1.37:g.183522252C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	pfam_EST1	p.F1151L	ENST00000347615.2	37	c.3453	CCDS1355.1	1	.	.	.	.	.	.	.	.	.	.	C	1.449	-0.565577	0.03939	.	.	ENSG00000116698	ENST00000507469	T	0.16324	2.35	5.02	3.09	0.35607	.	6.091010	0.00397	N	0.000044	T	0.10594	0.0259	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26224	-1.0109	10	0.87932	D	0	.	3.4268	0.07413	0.1459:0.5691:0.1518:0.1332	.	1151	E9PEH2	.	L	1151	ENSP00000425133:F1151L	ENSP00000425133:F1151L	F	+	3	2	SMG7	181788875	0.006000	0.16342	0.033000	0.17914	0.882000	0.50991	0.375000	0.20518	0.477000	0.27464	0.655000	0.94253	TTC	SMG7	-	NULL	ENSG00000116698		0.507	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	HGNC	protein_coding	OTTHUMT00000085432.1	22	0.00	0	C	NM_014837		183522252	183522252	+1	no_errors	ENST00000507469	ensembl	human	known	69_37n	missense	11	42.11	8	SNP	0.012	G
MTCL1	23255	genome.wustl.edu	37	18	8813204	8813204	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr18:8813204G>C	ENST00000306329.11	+	10	3789	c.3789G>C	c.(3787-3789)aaG>aaC	p.K1263N	SOGA2_ENST00000400050.3_Missense_Mutation_p.K903N|SOGA2_ENST00000359865.3_Missense_Mutation_p.K944N|SOGA2_ENST00000518815.1_Missense_Mutation_p.K297N|SOGA2_ENST00000517570.1_Missense_Mutation_p.K903N|SOGA2_ENST00000306285.7_Missense_Mutation_p.K297N																							AGCGGCAGAAGAAGGAATTCT	0.577																																						dbGAP											0													23.0	24.0	24.0					18																	8813204		2201	4300	6501	-	-	-	SO:0001583	missense	0																														ENST00000306329.11:c.3789G>C	18.37:g.8813204G>C	ENSP00000305027:p.Lys1263Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF3166	p.K944N	ENST00000306329.11	37	c.2832		18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.14|13.14	2.149221|2.149221	0.37923|0.37923	.|.	.|.	ENSG00000168502|ENSG00000168502	ENST00000519823|ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	.|T;T;T;T	.|0.44482	.|0.92;0.92;0.92;0.92	4.96|4.96	4.1|4.1	0.47936|0.47936	.|.	.|0.543405	.|0.16903	.|N	.|0.194828	T|T	0.35595|0.35595	0.0937|0.0937	L|L	0.54323|0.54323	1.7|1.7	0.30405|0.30405	N|N	0.77964|0.77964	.|P;P	.|0.43094	.|0.651;0.799	.|B;B	.|0.39339	.|0.198;0.297	T|T	0.23762|0.23762	-1.0179|-1.0179	5|10	.|0.16420	.|T	.|0.52	-20.4304|-20.4304	10.8629|10.8629	0.46837|0.46837	0.1525:0.0:0.8475:0.0|0.1525:0.0:0.8475:0.0	.|.	.|1254;944	.|Q9Y4B5;Q9Y4B5-3	.|CC165_HUMAN;.	Q|N	78|965;903;944;903;297	.|ENSP00000429556:K903N;ENSP00000352927:K944N;ENSP00000382924:K903N;ENSP00000303670:K297N	.|ENSP00000303670:K297N	E|K	+|+	1|3	0|2	CCDC165|CCDC165	8803204|8803204	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.902000|0.902000	0.53008|0.53008	4.234000|4.234000	0.58658|0.58658	1.328000|1.328000	0.45358|0.45358	-0.448000|-0.448000	0.05591|0.05591	GAA|AAG	SOGA2	-	NULL	ENSG00000168502		0.577	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	37	0.00	0	G			8813204	8813204	+1	no_errors	ENST00000359865	ensembl	human	known	69_37n	missense	21	19.23	5	SNP	1.000	C
CAPN15	6650	genome.wustl.edu	37	16	599151	599151	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:599151C>T	ENST00000219611.2	+	5	1971	c.1608C>T	c.(1606-1608)ttC>ttT	p.F536F	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	536	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GGTCTGTGTTCCACACACTGC	0.692																																						dbGAP											0													63.0	66.0	65.0					16																	599151		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.1608C>T	16.37:g.599151C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.F536	ENST00000219611.2	37	c.1608	CCDS10410.1	16																																																																																			SOLH	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat	ENSG00000103326		0.692	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOLH	HGNC	protein_coding	OTTHUMT00000239271.1	49	0.00	0	C	NM_005632		599151	599151	+1	no_errors	ENST00000219611	ensembl	human	known	69_37n	silent	39	27.78	15	SNP	1.000	T
SORBS2	8470	genome.wustl.edu	37	4	186544246	186544246	+	Silent	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:186544246C>G	ENST00000284776.7	-	13	2834	c.2325G>C	c.(2323-2325)ctG>ctC	p.L775L	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Silent_p.L875L|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Silent_p.L679L|SORBS2_ENST00000431808.1_Silent_p.L775L|SORBS2_ENST00000498125.1_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	775					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCAGCGCTCTCAGGGATGAGT	0.577																																					Esophageal Squamous(153;41 2433 9491 36028)	dbGAP											0													94.0	107.0	103.0					4																	186544246		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2325G>C	4.37:g.186544246C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.L775	ENST00000284776.7	37	c.2325	CCDS3845.1	4																																																																																			SORBS2	-	NULL	ENSG00000154556		0.577	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3	29	0.00	0	C	NM_003603		186544246	186544246	-1	no_errors	ENST00000284776	ensembl	human	known	69_37n	silent	28	17.14	6	SNP	0.000	G
SOX2	6657	genome.wustl.edu	37	3	181430271	181430271	+	Silent	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:181430271C>G	ENST00000325404.1	+	1	550	c.123C>G	c.(121-123)gtC>gtG	p.V41V	SOX2_ENST00000431565.2_Silent_p.V41V	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	41					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			CGGACCGCGTCAAGCGGCCCA	0.692			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																															dbGAP		Dom	yes		3	3q26.3-q27	6657	SRY (sex determining region Y)-box 2	yes	E	0													23.0	26.0	25.0					3																	181430271		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"""SRY (sex determining region Y)-boxes"""	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.123C>G	3.37:g.181430271C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14537	Silent	SNP	pfam_TF_SOX,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.V41	ENST00000325404.1	37	c.123	CCDS3239.1	3																																																																																			SOX2	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	ENSG00000181449		0.692	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX2	HGNC	protein_coding	OTTHUMT00000350419.1	39	0.00	0	C	NM_003106		181430271	181430271	+1	no_errors	ENST00000325404	ensembl	human	known	69_37n	silent	44	20.00	11	SNP	1.000	G
SOX6	55553	genome.wustl.edu	37	11	16068182	16068182	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:16068182G>C	ENST00000352083.6	-	12	1578	c.1501C>G	c.(1501-1503)Cag>Gag	p.Q501E	SOX6_ENST00000396356.3_Missense_Mutation_p.Q501E|SOX6_ENST00000316399.6_Missense_Mutation_p.Q501E|SOX6_ENST00000528429.1_Missense_Mutation_p.Q501E|SOX6_ENST00000528252.1_Missense_Mutation_p.Q474E|SOX6_ENST00000527619.1_Missense_Mutation_p.Q477E			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	501					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CGCGCCTCCTGAATGGCTTTC	0.493																																						dbGAP											0													108.0	97.0	100.0					11																	16068182		2200	4294	6494	-	-	-	SO:0001583	missense	0			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1501C>G	11.37:g.16068182G>C	ENSP00000339876:p.Gln501Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.Q501E	ENST00000352083.6	37	c.1501		11	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865896	0.91511	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.97906	-4.54;-4.6;-4.54;-4.58;-4.58;-4.6	5.96	5.96	0.96718	.	0.052201	0.85682	D	0.000000	D	0.97851	0.9294	M	0.69823	2.125	0.80722	D	1	P;P;D	0.57257	0.749;0.803;0.979	B;P;P	0.50405	0.341;0.49;0.64	D	0.97962	1.0338	10	0.59425	D	0.04	.	20.394	0.98981	0.0:0.0:1.0:0.0	.	501;501;477	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	E	501;501;501;474;477;501	ENSP00000324948:Q501E;ENSP00000339876:Q501E;ENSP00000379644:Q501E;ENSP00000432134:Q474E;ENSP00000434455:Q477E;ENSP00000433233:Q501E	ENSP00000324948:Q501E	Q	-	1	0	SOX6	16024758	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.355000	0.97087	2.830000	0.97506	0.585000	0.79938	CAG	SOX6	-	NULL	ENSG00000110693		0.493	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	SOX6	HGNC	protein_coding	OTTHUMT00000386811.1	71	0.00	0	G	NM_033326		16068182	16068182	-1	no_errors	ENST00000352083	ensembl	human	known	69_37n	missense	35	32.69	17	SNP	1.000	C
RNF19A	25897	genome.wustl.edu	37	8	101271477	101271477	+	Intron	SNP	G	G	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:101271477G>T	ENST00000519449.1	-	11	2143				RNF19A_ENST00000341084.2_Intron|RNF19A_ENST00000523255.1_Intron	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase						microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TGCCTTCTCTGAAATATAAGA	0.398											OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													75.0	70.0	72.0					8																	101271477		2202	4296	6498	-	-	-	SO:0001627	intron_variant	0			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1827-3C>A	8.37:g.101271477G>T		Somatic	1357	WXS	Illumina GAIIx	Phase_IV	A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	RNA	SNP	-	NULL	ENST00000519449.1	37	NULL	CCDS6286.1	8																																																																																			SPAG1	-	-	ENSG00000104450		0.398	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPAG1	HGNC	protein_coding	OTTHUMT00000380004.1	75	0.00	0	G	NM_015435		101271477	101271477	+1	no_errors	ENST00000519409	ensembl	human	known	69_37n	rna	81	15.62	15	SNP	0.997	T
SPDEF	25803	genome.wustl.edu	37	6	34511944	34511944	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:34511944C>G	ENST00000374037.3	-	2	703	c.289G>C	c.(289-291)Gac>Cac	p.D97H	SPDEF_ENST00000544425.1_Missense_Mutation_p.D97H	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	97					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						GCTTGGCTGTCAATGACCGGG	0.672																																						dbGAP											0													34.0	36.0	35.0					6																	34511944		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"""SAM pointed domain containing ets transcription factor"""			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.289G>C	6.37:g.34511944C>G	ENSP00000363149:p.Asp97His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWH8|F5H778	Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.D97H	ENST00000374037.3	37	c.289	CCDS4794.1	6	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819485	0.71028	.	.	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.18174	2.23;2.37	5.12	5.12	0.69794	.	0.571162	0.17347	N	0.177548	T	0.25121	0.0610	L	0.34521	1.04	0.44395	D	0.997304	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.972	T	0.05683	-1.0870	10	0.72032	D	0.01	.	18.6176	0.91308	0.0:1.0:0.0:0.0	.	97;97	F5H778;O95238	.;SPDEF_HUMAN	H	97	ENSP00000363149:D97H;ENSP00000442715:D97H	ENSP00000363149:D97H	D	-	1	0	SPDEF	34619922	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	4.433000	0.59929	2.385000	0.81259	0.585000	0.79938	GAC	SPDEF	-	NULL	ENSG00000124664		0.672	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDEF	HGNC	protein_coding	OTTHUMT00000040246.1	50	0.00	0	C	NM_012391		34511944	34511944	-1	no_errors	ENST00000374037	ensembl	human	known	69_37n	missense	47	17.54	10	SNP	0.996	G
SPEN	23013	genome.wustl.edu	37	1	16254693	16254693	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:16254693G>A	ENST00000375759.3	+	11	2162	c.1958G>A	c.(1957-1959)cGa>cAa	p.R653Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	653	Arg-rich.|Tyr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TATCCAGCTCGAGGGAGAGAG	0.453																																						dbGAP											0													101.0	102.0	102.0					1																	16254693		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1958G>A	1.37:g.16254693G>A	ENSP00000364912:p.Arg653Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.R653Q	ENST00000375759.3	37	c.1958	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152604	0.78001	.	.	ENSG00000065526	ENST00000375759	T	0.12039	2.72	4.54	4.54	0.55810	.	.	.	.	.	T	0.27933	0.0688	L	0.34521	1.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.01819	-1.1267	9	0.44086	T	0.13	-3.7381	17.8431	0.88720	0.0:0.0:1.0:0.0	.	653	Q96T58	MINT_HUMAN	Q	653	ENSP00000364912:R653Q	ENSP00000364912:R653Q	R	+	2	0	SPEN	16127280	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.146000	0.94640	2.514000	0.84764	0.563000	0.77884	CGA	SPEN	-	NULL	ENSG00000065526		0.453	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	22	0.00	0	G	NM_015001		16254693	16254693	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	missense	22	15.38	4	SNP	1.000	A
SPEN	23013	genome.wustl.edu	37	1	16259369	16259369	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:16259369G>A	ENST00000375759.3	+	11	6838	c.6634G>A	c.(6634-6636)Gaa>Aaa	p.E2212K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2212	Interaction with MSX2. {ECO:0000250}.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCAAGCAAGTGAAACAGAGCT	0.577																																						dbGAP											0													60.0	60.0	60.0					1																	16259369		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6634G>A	1.37:g.16259369G>A	ENSP00000364912:p.Glu2212Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E2212K	ENST00000375759.3	37	c.6634	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037750	0.75617	.	.	ENSG00000065526	ENST00000375759	T	0.29142	1.58	5.16	5.16	0.70880	.	.	.	.	.	T	0.56381	0.1981	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.54655	-0.8261	9	0.39692	T	0.17	-19.2135	18.6457	0.91409	0.0:0.0:1.0:0.0	.	2212	Q96T58	MINT_HUMAN	K	2212	ENSP00000364912:E2212K	ENSP00000364912:E2212K	E	+	1	0	SPEN	16131956	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	9.414000	0.97362	2.411000	0.81874	0.462000	0.41574	GAA	SPEN	-	NULL	ENSG00000065526		0.577	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	25	0.00	0	G	NM_015001		16259369	16259369	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	missense	39	23.53	12	SNP	1.000	A
SPG11	80208	genome.wustl.edu	37	15	44859755	44859755	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr15:44859755G>C	ENST00000261866.7	-	36	6637	c.6621C>G	c.(6619-6621)atC>atG	p.I2207M	SPG11_ENST00000427534.2_Missense_Mutation_p.I2207M|SPG11_ENST00000535302.2_Missense_Mutation_p.I2094M	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2207					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GGCAGCGTTTGATGTAGTCCA	0.542																																						dbGAP											0													82.0	73.0	76.0					15																	44859755		2198	4298	6496	-	-	-	SO:0001583	missense	0				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6621C>G	15.37:g.44859755G>C	ENSP00000261866:p.Ile2207Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Nonsense_Mutation	SNP	NULL	p.S331*	ENST00000261866.7	37	c.992	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813216	0.70912	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.78481	-1.18;-0.86;-1.01	6.14	5.23	0.72850	.	0.049076	0.85682	D	0.000000	D	0.86510	0.5950	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.79108	0.992;0.987;0.992;0.992	D	0.87656	0.2531	10	0.72032	D	0.01	.	11.6356	0.51202	0.1352:0.0:0.8648:0.0	.	2207;2094;2207;2207	C4B7M2;F5H3N6;C4B7M4;Q96JI7	.;.;.;SPTCS_HUMAN	M	2207;2094;2207	ENSP00000261866:I2207M;ENSP00000445278:I2094M;ENSP00000396110:I2207M	ENSP00000261866:I2207M	I	-	3	3	SPG11	42647047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.428000	0.34892	1.618000	0.50286	0.637000	0.83480	ATC	SPG11	-	NULL	ENSG00000104133		0.542	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	48	0.00	0	G			44859755	44859755	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000559511	ensembl	human	novel	69_37n	nonsense	60	14.29	10	SNP	1.000	C
SPG7	6687	genome.wustl.edu	37	16	89614411	89614411	+	Splice_Site	SNP	G	G	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:89614411G>T	ENST00000268704.2	+	12	1568	c.1553G>T	c.(1552-1554)gGg>gTg	p.G518V		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	518					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GTGTTGACAGGGGCTGACATC	0.607																																						dbGAP											0													105.0	102.0	103.0					16																	89614411		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1553-1G>T	16.37:g.89614411G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase,tigrfam_FtsH	p.G518V	ENST00000268704.2	37	c.1553	CCDS10977.1	16	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034207	0.75617	.	.	ENSG00000197912	ENST00000268704	D	0.95069	-3.6	5.47	5.47	0.80525	Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.98858	0.9614	H	0.99834	4.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99226	1.0880	9	.	.	.	.	19.3041	0.94153	0.0:0.0:1.0:0.0	.	518	Q9UQ90	SPG7_HUMAN	V	518	ENSP00000268704:G518V	.	G	+	2	0	SPG7	88141912	1.000000	0.71417	0.986000	0.45419	0.289000	0.27227	9.472000	0.97709	2.570000	0.86706	0.561000	0.74099	GGG	SPG7	-	tigrfam_FtsH	ENSG00000197912		0.607	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG7	HGNC	protein_coding	OTTHUMT00000269921.2	30	0.00	0	G	NM_003119	Missense_Mutation	89614411	89614411	+1	no_errors	ENST00000268704	ensembl	human	known	69_37n	missense	23	41.03	16	SNP	1.000	T
SPTBN2	6712	genome.wustl.edu	37	11	66461725	66461725	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:66461725G>A	ENST00000533211.1	-	22	4719	c.4388C>T	c.(4387-4389)tCg>tTg	p.S1463L	SPTBN2_ENST00000529997.1_Missense_Mutation_p.S1463L|SPTBN2_ENST00000309996.2_Missense_Mutation_p.S1463L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1463					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CACGGCCCTCGAGGTTCTCTC	0.657											OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													63.0	57.0	59.0					11																	66461725		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4388C>T	11.37:g.66461725G>A	ENSP00000432568:p.Ser1463Leu	Somatic	1092	WXS	Illumina GAIIx	Phase_IV	O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type	p.S1463L	ENST00000533211.1	37	c.4388	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251563	0.59212	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.38722	1.12;1.12;1.12	4.63	4.63	0.57726	.	0.143577	0.48767	D	0.000161	T	0.25457	0.0619	N	0.16903	0.455	0.33954	D	0.644744	P	0.52061	0.95	P	0.45406	0.479	T	0.19679	-1.0298	10	0.20046	T	0.44	.	5.8175	0.18500	0.096:0.0:0.7106:0.1934	.	1463	O15020	SPTN2_HUMAN	L	1463	ENSP00000432568:S1463L;ENSP00000311489:S1463L;ENSP00000433593:S1463L	ENSP00000311489:S1463L	S	-	2	0	SPTBN2	66218301	0.328000	0.24687	0.939000	0.37840	0.449000	0.32228	2.261000	0.43276	2.397000	0.81536	0.563000	0.77884	TCG	SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000173898		0.657	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	63	0.00	0	G	NM_006946		66461725	66461725	-1	no_errors	ENST00000309996	ensembl	human	known	69_37n	missense	53	19.70	13	SNP	0.856	A
SRBD1	55133	genome.wustl.edu	37	2	45645601	45645601	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:45645601C>T	ENST00000263736.4	-	18	2298	c.2236G>A	c.(2236-2238)Gaa>Aaa	p.E746K	SRBD1_ENST00000535761.1_Missense_Mutation_p.E265K|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	746					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTCAGCTGTTCTCGGTTGATA	0.423																																						dbGAP											0													236.0	156.0	183.0					2																	45645601		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2236G>A	2.37:g.45645601C>T	ENSP00000263736:p.Glu746Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.E746K	ENST00000263736.4	37	c.2236	CCDS1823.1	2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840845	0.91197	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.30714	1.92;1.52	5.96	5.96	0.96718	Tex RuvX-like domain (1);	0.000000	0.85682	D	0.000000	T	0.42585	0.1209	L	0.31120	0.905	0.80722	D	1	D	0.58970	0.984	P	0.61800	0.894	T	0.03166	-1.1065	10	0.22109	T	0.4	.	20.475	0.99174	0.0:1.0:0.0:0.0	.	746	Q8N5C6	SRBD1_HUMAN	K	746;265	ENSP00000263736:E746K;ENSP00000441272:E265K	ENSP00000263736:E746K	E	-	1	0	SRBD1	45499105	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.377000	0.79668	2.842000	0.97951	0.644000	0.83932	GAA	SRBD1	-	superfamily_RuvA_2-like	ENSG00000068784		0.423	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRBD1	HGNC	protein_coding	OTTHUMT00000250747.3	56	0.00	0	C	NM_018079		45645601	45645601	-1	no_errors	ENST00000263736	ensembl	human	known	69_37n	missense	53	10.17	6	SNP	1.000	T
SRC	6714	genome.wustl.edu	37	20	36032156	36032156	+	3'UTR	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:36032156C>T	ENST00000373578.2	+	0	2334				SRC_ENST00000360723.4_3'UTR|SRC_ENST00000445403.1_3'UTR|SRC_ENST00000358208.4_3'UTR|SRC_ENST00000373558.2_3'UTR|SRC_ENST00000373567.2_3'UTR|SRC_ENST00000477066.1_3'UTR	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	TTCCCCACTTCTGTGCCACCC	0.652																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.*374C>T	20.37:g.36032156C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5V4|Q76P87|Q86VB9|Q9H5A8	RNA	SNP	-	NULL	ENST00000373578.2	37	NULL	CCDS13294.1	20																																																																																			SRC	-	-	ENSG00000197122		0.652	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SRC	HGNC	protein_coding	OTTHUMT00000268142.1	83	0.00	0	C	NM_005417		36032156	36032156	+1	no_errors	ENST00000477066	ensembl	human	known	69_37n	rna	103	11.21	13	SNP	0.001	T
SRRM1	10250	genome.wustl.edu	37	1	24977977	24977977	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:24977977C>G	ENST00000323848.9	+	6	914	c.599C>G	c.(598-600)tCt>tGt	p.S200C	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.S200C|SRRM1_ENST00000447431.2_Missense_Mutation_p.S200C|SRRM1_ENST00000537199.1_Intron	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	200	Arg-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CATTCTCGATCTCCCCGTCAC	0.478																																					Ovarian(68;897 1494 3282 17478)	dbGAP											0													51.0	55.0	54.0					1																	24977977		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.599C>G	1.37:g.24977977C>G	ENSP00000326261:p.Ser200Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O60585|Q5VVN4	Missense_Mutation	SNP	pfam_PWI,superfamily_PWI,smart_PWI	p.S200C	ENST00000323848.9	37	c.599	CCDS255.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243840	0.79912	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.52754	0.65;0.67;0.65	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000011	T	0.68677	0.3027	M	0.61703	1.905	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.984	T	0.69461	-0.5139	10	0.87932	D	0	-3.5059	20.0684	0.97708	0.0:1.0:0.0:0.0	.	200;200	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	C	200	ENSP00000326261:S200C;ENSP00000391430:S200C;ENSP00000363510:S200C	ENSP00000326261:S200C	S	+	2	0	SRRM1	24850564	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.991000	0.76232	2.734000	0.93682	0.650000	0.86243	TCT	SRRM1	-	NULL	ENSG00000133226		0.478	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM1	HGNC	protein_coding	OTTHUMT00000009292.2	31	0.00	0	C	NM_005839		24977977	24977977	+1	no_errors	ENST00000447431	ensembl	human	known	69_37n	missense	28	22.22	8	SNP	1.000	G
SRRM1	10250	genome.wustl.edu	37	1	24981345	24981345	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:24981345G>A	ENST00000323848.9	+	9	1355		c.e9-1		SRRM1_ENST00000479034.1_Splice_Site|SRRM1_ENST00000374389.4_Splice_Site|SRRM1_ENST00000447431.2_Splice_Site|SRRM1_ENST00000537199.1_Splice_Site	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TTATTCCACAGAAGAAGACGT	0.423																																					Ovarian(68;897 1494 3282 17478)	dbGAP											0													104.0	105.0	105.0					1																	24981345		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1041-1G>A	1.37:g.24981345G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O60585|Q5VVN4	Splice_Site	SNP	-	e9-1	ENST00000323848.9	37	c.1041-1	CCDS255.1	1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513261	0.64522	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389;ENST00000537199	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8472	0.96713	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SRRM1	24853932	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.078000	0.76821	2.768000	0.95171	0.650000	0.86243	.	SRRM1	-	-	ENSG00000133226		0.423	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM1	HGNC	protein_coding	OTTHUMT00000009292.2	45	0.00	0	G	NM_005839	Intron	24981345	24981345	+1	no_errors	ENST00000447431	ensembl	human	known	69_37n	splice_site	27	18.18	6	SNP	1.000	A
SRRT	51593	genome.wustl.edu	37	7	100479731	100479731	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:100479731C>G	ENST00000347433.4	+	5	614	c.456C>G	c.(454-456)ttC>ttG	p.F152L	SRRT_ENST00000457580.2_Missense_Mutation_p.F152L|SRRT_ENST00000388793.4_Missense_Mutation_p.F152L|SRRT_ENST00000432932.1_Missense_Mutation_p.F152L			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	152					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGAAGACCTTCAAGGAGTTTC	0.582																																						dbGAP											0													120.0	111.0	114.0					7																	100479731		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.456C>G	7.37:g.100479731C>G	ENSP00000314491:p.Phe152Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.F152L	ENST00000347433.4	37	c.456	CCDS34709.1	7	.	.	.	.	.	.	.	.	.	.	C	11.04	1.520710	0.27211	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000539682;ENST00000432932;ENST00000347433	.	.	.	4.59	3.62	0.41486	.	0.000000	0.85682	D	0.000000	T	0.62122	0.2402	L	0.51853	1.615	0.58432	D	0.999997	D;D;D;D	0.57257	0.974;0.974;0.974;0.979	D;D;D;D	0.71414	0.953;0.953;0.953;0.973	T	0.58418	-0.7640	9	0.22109	T	0.4	.	5.4164	0.16376	0.0:0.7739:0.0:0.2261	.	152;152;152;152	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	L	152;152;67;152;152	.	ENSP00000314491:F152L	F	+	3	2	SRRT	100317667	1.000000	0.71417	1.000000	0.80357	0.084000	0.17831	1.779000	0.38624	2.351000	0.79841	0.563000	0.77884	TTC	SRRT	-	pfam_DUF3546	ENSG00000087087		0.582	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	60	0.00	0	C	NM_015908		100479731	100479731	+1	no_errors	ENST00000388793	ensembl	human	known	69_37n	missense	62	15.07	11	SNP	1.000	G
SRSF6	6431	genome.wustl.edu	37	20	42089630	42089630	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:42089630G>C	ENST00000244020.3	+	6	1068	c.962G>C	c.(961-963)aGa>aCa	p.R321T		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	321	Arg/Ser-rich (RS domain).				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)	p.R321K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						CCACCAAAAAGAGCTACTTCA	0.473																																						dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											79.0	79.0	79.0					20																	42089630		2203	4300	6503	-	-	-	SO:0001583	missense	0			U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.962G>C	20.37:g.42089630G>C	ENSP00000244020:p.Arg321Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	p.R321T	ENST00000244020.3	37	c.962	CCDS13318.1	20	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723599	0.30593	.	.	ENSG00000124193	ENST00000244020	T	0.16324	2.35	5.64	4.69	0.59074	.	0.328953	0.34853	N	0.003627	T	0.07413	0.0187	N	0.08118	0	0.37738	D	0.925526	P	0.37781	0.608	B	0.32980	0.156	T	0.40040	-0.9584	10	0.19590	T	0.45	.	9.6179	0.39704	0.0763:0.1416:0.7821:0.0	.	321	Q13247	SRSF6_HUMAN	T	321	ENSP00000244020:R321T	ENSP00000244020:R321T	R	+	2	0	SRSF6	41523044	.	.	1.000000	0.80357	0.988000	0.76386	.	.	1.515000	0.48885	0.591000	0.81541	AGA	SRSF6	-	NULL	ENSG00000124193		0.473	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF6	HGNC	protein_coding	OTTHUMT00000079292.1	35	0.00	0	G	NM_006275		42089630	42089630	+1	no_errors	ENST00000244020	ensembl	human	known	69_37n	missense	33	19.51	8	SNP	1.000	C
SSX2IP	117178	genome.wustl.edu	37	1	85121255	85121255	+	Intron	SNP	A	A	G	rs4537578	byFrequency	TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:85121255A>G	ENST00000342203.3	-	11	1653				SSX2IP_ENST00000370612.4_Intron|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000437941.2_Intron|SSX2IP_ENST00000605755.1_Intron	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein						cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TAAAACACTTAGCAGGAGAAA	0.378													A|||	2577	0.514577	0.2542	0.5346	5008	,	,		16350	0.7034		0.6521	False		,,,				2504	0.5164					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1389+259T>C	1.37:g.85121255A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	RNA	SNP	-	NULL	ENST00000342203.3	37	NULL	CCDS699.1	1	1222	0.5595238095238095	123	0.25	200	0.5524861878453039	399	0.6975524475524476	500	0.6596306068601583	A	6.740	0.505305	0.12822	.	.	ENSG00000117155	ENST00000544699	.	.	.	3.92	1.46	0.22682	.	.	.	.	.	T	0.23532	0.0569	.	.	.	0.80722	P	0.0	P	0.39022	0.655	B	0.39840	0.311	T	0.03852	-1.0998	6	0.62326	D	0.03	.	8.0465	0.30553	0.587:0.413:0.0:0.0	rs4537578;rs4537578	465	F5H549	.	P	465	.	ENSP00000444731:L465P	L	-	2	0	SSX2IP	84893843	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.328000	0.19681	0.290000	0.22444	0.460000	0.39030	CTA	SSX2IP	-	-	ENSG00000117155		0.378	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX2IP	HGNC	protein_coding	OTTHUMT00000027469.1	24	0.00	0	A	NM_014021		85121255	85121255	-1	no_errors	ENST00000459708	ensembl	human	known	69_37n	rna	25	16.67	5	SNP	0.000	G
STARD9	57519	genome.wustl.edu	37	15	42973654	42973654	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr15:42973654C>G	ENST00000290607.7	+	21	1966	c.1909C>G	c.(1909-1911)Cag>Gag	p.Q637E		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	637					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						CGAGGACCATCAGACACCGAG	0.527																																						dbGAP											0													91.0	95.0	94.0					15																	42973654		692	1590	2282	-	-	-	SO:0001583	missense	0			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.1909C>G	15.37:g.42973654C>G	ENSP00000290607:p.Gln637Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q637E	ENST00000290607.7	37	c.1909	CCDS53935.1	15	.	.	.	.	.	.	.	.	.	.	C	3.903	-0.021658	0.07634	.	.	ENSG00000159433	ENST00000290607	T	0.64803	-0.12	5.46	1.32	0.21799	.	.	.	.	.	T	0.52565	0.1742	L	0.27053	0.805	0.09310	N	1	.	.	.	.	.	.	T	0.47749	-0.9093	7	0.56958	D	0.05	.	10.0638	0.42290	0.457:0.4812:0.0:0.0619	.	.	.	.	E	637	ENSP00000290607:Q637E	ENSP00000290607:Q637E	Q	+	1	0	STARD9	40760946	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	0.922000	0.28734	0.057000	0.16193	0.655000	0.94253	CAG	STARD9	-	NULL	ENSG00000159433		0.527	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	24	0.00	0	C			42973654	42973654	+1	no_errors	ENST00000290607	ensembl	human	known	69_37n	missense	25	19.35	6	SNP	0.000	G
STARD9	57519	genome.wustl.edu	37	15	42980700	42980700	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr15:42980700C>T	ENST00000290607.7	+	23	6981	c.6924C>T	c.(6922-6924)ttC>ttT	p.F2308F		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	2308					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						ACACGTTTTTCAGGCAGGAAA	0.458																																						dbGAP											0													57.0	47.0	50.0					15																	42980700		692	1590	2282	-	-	-	SO:0001819	synonymous_variant	0			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.6924C>T	15.37:g.42980700C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Silent	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.F2308	ENST00000290607.7	37	c.6924	CCDS53935.1	15																																																																																			STARD9	-	NULL	ENSG00000159433		0.458	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	37	0.00	0	C			42980700	42980700	+1	no_errors	ENST00000290607	ensembl	human	known	69_37n	silent	29	12.12	4	SNP	0.003	T
STAT6	6778	genome.wustl.edu	37	12	57493638	57493638	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:57493638G>A	ENST00000300134.3	-	15	1981	c.1656C>T	c.(1654-1656)ctC>ctT	p.L552L	STAT6_ENST00000538913.2_Silent_p.L442L|STAT6_ENST00000537215.2_Silent_p.L442L|STAT6_ENST00000543873.2_Silent_p.L552L|STAT6_ENST00000556155.1_Silent_p.L552L|STAT6_ENST00000454075.3_Silent_p.L552L	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	552	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CGGGCTCATTGAGAAGAAGGC	0.572																																						dbGAP											0													94.0	86.0	89.0					12																	57493638		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1656C>T	12.37:g.57493638G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Nonsense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_SH2,superfamily_p53-like_TF_DNA-bd,pfscan_SH2	p.Q271*	ENST00000300134.3	37	c.811	CCDS8931.1	12	.	.	.	.	.	.	.	.	.	.	G	8.090	0.774377	0.16051	.	.	ENSG00000166888	ENST00000553533	.	.	.	4.91	3.04	0.35103	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999985	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.8068	5.5244	0.16951	0.1705:0.1724:0.6571:0.0	.	.	.	.	X	271	.	.	Q	-	1	0	STAT6	55779905	0.997000	0.39634	0.989000	0.46669	0.893000	0.52053	1.640000	0.37186	1.306000	0.44926	-0.126000	0.14955	CAA	STAT6	-	pfam_SH2,pfscan_SH2	ENSG00000166888		0.572	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	HGNC	protein_coding	OTTHUMT00000412248.3	42	0.00	0	G	NM_003153		57493638	57493638	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000553533	ensembl	human	putative	69_37n	nonsense	57	12.31	8	SNP	0.844	A
STAT6	6778	genome.wustl.edu	37	12	57496109	57496109	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:57496109G>A	ENST00000300134.3	-	13	1801	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	STAT6_ENST00000538913.2_Silent_p.F382F|STAT6_ENST00000537215.2_Silent_p.F382F|STAT6_ENST00000543873.2_Silent_p.F492F|STAT6_ENST00000556155.1_Silent_p.F492F|STAT6_ENST00000454075.3_Silent_p.F492F	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	492					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						AACGGTGCTGGAAGGCCTCCA	0.592																																						dbGAP											0													171.0	149.0	157.0					12																	57496109		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1476C>T	12.37:g.57496109G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_SH2,superfamily_p53-like_TF_DNA-bd,pfscan_SH2	p.P193S	ENST00000300134.3	37	c.577	CCDS8931.1	12	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339359	0.24339	.	.	ENSG00000166888	ENST00000553533	.	.	.	5.05	4.15	0.48705	.	.	.	.	.	T	0.60586	0.2280	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58451	-0.7634	4	.	.	.	-19.1792	10.4282	0.44391	0.0963:0.0:0.9037:0.0	.	.	.	.	S	193	.	.	P	-	1	0	STAT6	55782376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.554000	0.73923	1.338000	0.45544	0.650000	0.86243	CCA	STAT6	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000166888		0.592	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	HGNC	protein_coding	OTTHUMT00000412248.3	25	0.00	0	G	NM_003153		57496109	57496109	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000553533	ensembl	human	putative	69_37n	missense	41	26.79	15	SNP	1.000	A
STAT6	6778	genome.wustl.edu	37	12	57498953	57498953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:57498953G>A	ENST00000300134.3	-	9	1307	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	STAT6_ENST00000538913.2_Nonsense_Mutation_p.Q218*|STAT6_ENST00000537215.2_Nonsense_Mutation_p.Q218*|STAT6_ENST00000543873.2_Nonsense_Mutation_p.Q328*|STAT6_ENST00000556155.1_Nonsense_Mutation_p.Q328*|STAT6_ENST00000454075.3_Nonsense_Mutation_p.Q328*	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	328					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CCAGGACCCTGAGGCACACTC	0.637																																						dbGAP											0													52.0	47.0	49.0					12																	57498953		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.982C>T	12.37:g.57498953G>A	ENSP00000300134:p.Gln328*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Nonsense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.Q328*	ENST00000300134.3	37	c.982	CCDS8931.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.839755|6.839755	0.97877|0.97877	.|.	.|.	ENSG00000166888|ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516|ENST00000553533	.|.	.|.	.|.	4.37|4.37	4.37|4.37	0.52481|0.52481	.|.	0.533866|.	0.19477|.	N|.	0.113318|.	.|T	.|0.60856	.|0.2301	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68557	.|-0.5377	.|3	0.02654|.	T|.	1|.	-14.7836|-14.7836	12.2907|12.2907	0.54817|0.54817	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	328;218;218;328;328;218;328;218;328|28	.|.	ENSP00000300134:Q328X|.	Q|S	-|-	1|2	0|0	STAT6|STAT6	55785220|55785220	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.637000|0.637000	0.38172|0.38172	3.225000|3.225000	0.51246|0.51246	2.261000|2.261000	0.74972|0.74972	0.561000|0.561000	0.74099|0.74099	CAG|TCA	STAT6	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000166888		0.637	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	HGNC	protein_coding	OTTHUMT00000412248.3	48	0.00	0	G	NM_003153		57498953	57498953	-1	no_errors	ENST00000300134	ensembl	human	known	69_37n	nonsense	45	22.41	13	SNP	1.000	A
STAT6	6778	genome.wustl.edu	37	12	57501470	57501470	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:57501470G>A	ENST00000300134.3	-	3	498	c.173C>T	c.(172-174)tCa>tTa	p.S58L	STAT6_ENST00000538913.2_Intron|STAT6_ENST00000537215.2_5'UTR|STAT6_ENST00000543873.2_Missense_Mutation_p.S58L|STAT6_ENST00000556155.1_Missense_Mutation_p.S58L|STAT6_ENST00000454075.3_Missense_Mutation_p.S58L	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	58					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GACAGTGTCTGAAAGTAGGGC	0.617																																						dbGAP											0													77.0	64.0	69.0					12																	57501470		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.173C>T	12.37:g.57501470G>A	ENSP00000300134:p.Ser58Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.S58L	ENST00000300134.3	37	c.173	CCDS8931.1	12	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371146	0.82573	.	.	ENSG00000166888	ENST00000300134;ENST00000543873;ENST00000556155;ENST00000454075;ENST00000542516;ENST00000555849;ENST00000556259;ENST00000553499;ENST00000553397;ENST00000554663;ENST00000554825;ENST00000557635;ENST00000553275	T;T;T;T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	4.88	4.88	0.63580	STAT transcription factor, protein interaction (4);	0.400384	0.25475	N	0.030407	T	0.49423	0.1556	L	0.36672	1.1	0.80722	D	1	P;P	0.43542	0.625;0.81	P;P	0.46110	0.504;0.498	T	0.50457	-0.8826	10	0.51188	T	0.08	-9.2083	13.4016	0.60887	0.0:0.0:1.0:0.0	.	58;58	A8K4S9;P42226	.;STAT6_HUMAN	L	58	ENSP00000300134:S58L;ENSP00000438451:S58L;ENSP00000451742:S58L;ENSP00000401486:S58L;ENSP00000452394:S58L;ENSP00000452373:S58L;ENSP00000451074:S58L;ENSP00000452203:S58L;ENSP00000450665:S58L;ENSP00000451209:S58L;ENSP00000450747:S58L;ENSP00000450732:S58L	ENSP00000300134:S58L	S	-	2	0	STAT6	55787737	0.952000	0.32445	0.888000	0.34837	0.964000	0.63967	5.410000	0.66381	2.532000	0.85374	0.655000	0.94253	TCA	STAT6	-	pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction	ENSG00000166888		0.617	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	HGNC	protein_coding	OTTHUMT00000412248.3	18	0.00	0	G	NM_003153		57501470	57501470	-1	no_errors	ENST00000300134	ensembl	human	known	69_37n	missense	31	24.39	10	SNP	0.974	A
STIL	6491	genome.wustl.edu	37	1	47746630	47746630	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:47746630C>T	ENST00000360380.3	-	13	1863	c.1500G>A	c.(1498-1500)ttG>ttA	p.L500L	STIL_ENST00000337817.5_Silent_p.L500L|STIL_ENST00000243182.6_Silent_p.L500L|STIL_ENST00000396221.2_Silent_p.L500L|STIL_ENST00000371877.3_Silent_p.L500L	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	500					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TGCAGTGTCTCAAAAGAGCTG	0.438																																						dbGAP											0													103.0	95.0	97.0					1																	47746630		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1500G>A	1.37:g.47746630C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T0C5|Q68CN9	Missense_Mutation	SNP	NULL	p.E34K	ENST00000360380.3	37	c.100	CCDS548.1	1	.	.	.	.	.	.	.	.	.	.	C	2.564	-0.301073	0.05495	.	.	ENSG00000123473	ENST00000436811	.	.	.	5.14	1.21	0.21127	.	.	.	.	.	T	0.35941	0.0949	.	.	.	0.27632	N	0.947994	.	.	.	.	.	.	T	0.28106	-1.0054	4	.	.	.	-2.7428	9.9213	0.41466	0.0:0.575:0.0:0.425	.	.	.	.	K	34	.	.	E	-	1	0	STIL	47519217	0.183000	0.23186	0.886000	0.34754	0.552000	0.35366	-0.267000	0.08619	0.068000	0.16574	0.655000	0.94253	GAG	STIL	-	NULL	ENSG00000123473		0.438	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STIL	HGNC	protein_coding	OTTHUMT00000021649.2	54	0.00	0	C	NM_003035		47746630	47746630	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000436811	ensembl	human	novel	69_37n	missense	38	22.45	11	SNP	0.119	T
STK38	11329	genome.wustl.edu	37	6	36464500	36464500	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:36464500G>C	ENST00000229812.7	-	13	1540	c.1255C>G	c.(1255-1257)Ctt>Gtt	p.L419V		NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTTGGCTTAAGAATATCAGAT	0.398																																					Colon(180;997 3561 16158)	dbGAP											0													166.0	142.0	150.0					6																	36464500		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.1255C>G	6.37:g.36464500G>C	ENSP00000229812:p.Leu419Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.L419V	ENST00000229812.7	37	c.1255	CCDS4822.1	6	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236960	0.58886	.	.	ENSG00000112079	ENST00000229812	T	0.42900	0.96	6.16	6.16	0.99307	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.33000	0.0848	L	0.49126	1.545	0.80722	D	1	B	0.26708	0.157	B	0.33121	0.158	T	0.06752	-1.0809	10	0.29301	T	0.29	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	419	Q15208	STK38_HUMAN	V	419	ENSP00000229812:L419V	ENSP00000229812:L419V	L	-	1	0	STK38	36572478	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.624000	0.83124	2.937000	0.99478	0.650000	0.86243	CTT	STK38	-	pfam_Pkinase_C,smart_AGC-kinase_C	ENSG00000112079		0.398	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK38	HGNC	protein_coding	OTTHUMT00000040346.1	38	0.00	0	G	NM_007271		36464500	36464500	-1	no_errors	ENST00000229812	ensembl	human	known	69_37n	missense	51	12.07	7	SNP	1.000	C
STK39	27347	genome.wustl.edu	37	2	168994617	168994617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:168994617G>A	ENST00000355999.4	-	8	1660	c.955C>T	c.(955-957)Cag>Tag	p.Q319*		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	319	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						GGATCTTTCTGAAGACACAGT	0.388																																						dbGAP											0													152.0	141.0	144.0					2																	168994617		1866	4099	5965	-	-	-	SO:0001587	stop_gained	0			AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"""STE20/SPS1 homolog (yeast)"""	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.955C>T	2.37:g.168994617G>A	ENSP00000348278:p.Gln319*	Somatic		WXS	Illumina GAIIx	Phase_IV	O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q319*	ENST00000355999.4	37	c.955	CCDS42770.1	2	.	.	.	.	.	.	.	.	.	.	G	45	11.792317	0.99603	.	.	ENSG00000198648	ENST00000355999	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-3.4552	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	319	.	ENSP00000348278:Q319X	Q	-	1	0	STK39	168702863	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CAG	STK39	-	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	ENSG00000198648		0.388	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK39	HGNC	protein_coding	OTTHUMT00000258112.2	89	0.00	0	G	NM_013233		168994617	168994617	-1	no_errors	ENST00000355999	ensembl	human	known	69_37n	nonsense	73	19.78	18	SNP	1.000	A
STK39	27347	genome.wustl.edu	37	2	169020359	169020359	+	Silent	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:169020359G>C	ENST00000355999.4	-	4	1167	c.462C>G	c.(460-462)gtC>gtG	p.V154V		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	154	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						CTCCTCGGTTGACAATGTATT	0.363																																						dbGAP											0													131.0	118.0	122.0					2																	169020359		1844	4092	5936	-	-	-	SO:0001819	synonymous_variant	0			AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"""STE20/SPS1 homolog (yeast)"""	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.462C>G	2.37:g.169020359G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V154	ENST00000355999.4	37	c.462	CCDS42770.1	2																																																																																			STK39	-	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	ENSG00000198648		0.363	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK39	HGNC	protein_coding	OTTHUMT00000258112.2	58	0.00	0	G	NM_013233		169020359	169020359	-1	no_errors	ENST00000355999	ensembl	human	known	69_37n	silent	56	22.22	16	SNP	0.993	C
STRN3	29966	genome.wustl.edu	37	14	31364699	31364699	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:31364699G>C	ENST00000357479.5	-	18	2508	c.2312C>G	c.(2311-2313)tCa>tGa	p.S771*	STRN3_ENST00000355683.5_Nonsense_Mutation_p.S687*	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	771					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|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)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ATCATAAATTGATTCATCCAA	0.368																																						dbGAP											0													109.0	95.0	100.0					14																	31364699		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.2312C>G	14.37:g.31364699G>C	ENSP00000350071:p.Ser771*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTX7|A6NHZ7|Q9NRA5	Nonsense_Mutation	SNP	pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S771*	ENST00000357479.5	37	c.2312	CCDS41938.1	14	.	.	.	.	.	.	.	.	.	.	G	39	7.621519	0.98393	.	.	ENSG00000196792	ENST00000355683;ENST00000357479	.	.	.	5.35	5.35	0.76521	.	0.054832	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.5465	19.073	0.93147	0.0:0.0:1.0:0.0	.	.	.	.	X	687;771	.	ENSP00000347909:S687X	S	-	2	0	STRN3	30434450	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.814000	0.99346	2.503000	0.84419	0.467000	0.42956	TCA	STRN3	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000196792		0.368	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	STRN3	HGNC	protein_coding	OTTHUMT00000409713.1	50	0.00	0	G	NM_014574		31364699	31364699	-1	no_errors	ENST00000357479	ensembl	human	known	69_37n	nonsense	20	35.48	11	SNP	1.000	C
JMJD8	339123	genome.wustl.edu	37	16	731457	731457	+	IGR	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:731457G>A	ENST00000293882.4	-	0	2123				STUB1_ENST00000564370.1_Silent_p.E54E|STUB1_ENST00000565677.1_Silent_p.E54E|LA16c-313D11.9_ENST00000571933.1_RNA|STUB1_ENST00000219548.4_Silent_p.E126E|STUB1_ENST00000566181.2_3'UTR|LA16c-313D11.9_ENST00000567091.1_RNA			Q96S16	JMJD8_HUMAN	jumonji domain containing 8							extracellular vesicular exosome (GO:0070062)				breast(1)	1						TGGCCAAGGAGCAGCGGCTGA	0.647																																						dbGAP											0													35.0	36.0	35.0					16																	731457		2198	4298	6496	-	-	-	SO:0001628	intergenic_variant	0				CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 20"""	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16			16.37:g.731457G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Missense_Mutation	SNP	pfam_Ubox_domain,smart_Ubox_domain,pfscan_TPR-contain_dom	p.S32N	ENST00000293882.4	37	c.95		16																																																																																			STUB1	-	pfscan_TPR-contain_dom	ENSG00000103266		0.647	JMJD8-201	KNOWN	basic	protein_coding	STUB1	HGNC	protein_coding		28	0.00	0	G	NM_001005920		731457	731457	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000566408	ensembl	human	putative	69_37n	missense	34	19.05	8	SNP	1.000	A
SUV420H2	84787	genome.wustl.edu	37	19	55857665	55857665	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:55857665G>A	ENST00000255613.3	+	7	903	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	219					histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CTTCTACGGCGAGGGCTTCTT	0.622																																						dbGAP											0													120.0	99.0	106.0					19																	55857665		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"""Chromatin-modifying enzymes / K-methyltransferases"""	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.655G>A	19.37:g.55857665G>A	ENSP00000255613:p.Glu219Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WZ10|Q9BRZ6	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.E219K	ENST00000255613.3	37	c.655	CCDS12922.1	19	.	.	.	.	.	.	.	.	.	.	g	19.88	3.909878	0.72983	.	.	ENSG00000133247	ENST00000255613	D	0.85773	-2.03	3.87	3.87	0.44632	SET domain (2);	0.615744	0.14388	N	0.322718	D	0.82296	0.5006	L	0.54323	1.7	0.80722	D	1	B	0.18013	0.025	B	0.12156	0.007	T	0.78755	-0.2080	10	0.37606	T	0.19	-18.5454	15.1422	0.72620	0.0:0.0:1.0:0.0	.	219	Q86Y97	SV422_HUMAN	K	219	ENSP00000255613:E219K	ENSP00000255613:E219K	E	+	1	0	SUV420H2	60549477	1.000000	0.71417	0.080000	0.20451	0.925000	0.55904	7.082000	0.76851	2.151000	0.67156	0.609000	0.83330	GAG	SUV420H2	-	smart_SET_dom,pfscan_SET_dom	ENSG00000133247		0.622	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H2	HGNC	protein_coding	OTTHUMT00000318309.2	78	0.00	0	G	NM_032701		55857665	55857665	+1	no_errors	ENST00000255613	ensembl	human	known	69_37n	missense	87	18.69	20	SNP	0.772	A
SVEP1	79987	genome.wustl.edu	37	9	113168453	113168453	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:113168453C>T	ENST00000401783.2	-	38	9763	c.9427G>A	c.(9427-9429)Gaa>Aaa	p.E3143K	SVEP1_ENST00000374469.1_Missense_Mutation_p.E3120K|SVEP1_ENST00000297826.5_Missense_Mutation_p.E1069K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3143	Sushi 29. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGTTTCACTTCACTTTCATAG	0.502																																						dbGAP											0													83.0	87.0	86.0					9																	113168453		1947	4160	6107	-	-	-	SO:0001583	missense	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9427G>A	9.37:g.113168453C>T	ENSP00000384917:p.Glu3143Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.E3143K	ENST00000401783.2	37	c.9427	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	3.756	-0.050565	0.07407	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.62364	0.03;0.03;0.03	5.69	0.601	0.17529	Complement control module (2);Sushi/SCR/CCP (3);	0.260319	0.43579	N	0.000545	T	0.23133	0.0559	N	0.01152	-0.98	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	10	0.02654	T	1	.	6.9144	0.24352	0.0:0.1286:0.1923:0.6791	.	3143	Q4LDE5	SVEP1_HUMAN	K	3143;3120;1069	ENSP00000384917:E3143K;ENSP00000363593:E3120K;ENSP00000297826:E1069K	ENSP00000297826:E1069K	E	-	1	0	SVEP1	112208274	1.000000	0.71417	0.990000	0.47175	0.972000	0.66771	1.047000	0.30367	-0.120000	0.11809	-0.238000	0.12139	GAA	SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000165124		0.502	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		62	0.00	0	C			113168453	113168453	-1	no_errors	ENST00000401783	ensembl	human	known	69_37n	missense	58	19.44	14	SNP	0.996	T
SVEP1	79987	genome.wustl.edu	37	9	113169051	113169051	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:113169051G>A	ENST00000401783.2	-	38	9165	c.8829C>T	c.(8827-8829)ctC>ctT	p.L2943L	SVEP1_ENST00000374469.1_Silent_p.L2920L|SVEP1_ENST00000297826.5_Silent_p.L869L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2943	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTGGTTTACAGAGAGGAATCT	0.473																																						dbGAP											0													186.0	183.0	184.0					9																	113169051		1978	4157	6135	-	-	-	SO:0001819	synonymous_variant	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8829C>T	9.37:g.113169051G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.L2943	ENST00000401783.2	37	c.8829	CCDS48004.1	9																																																																																			SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000165124		0.473	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		45	0.00	0	G			113169051	113169051	-1	no_errors	ENST00000401783	ensembl	human	known	69_37n	silent	31	22.50	9	SNP	0.983	A
SVIL	6840	genome.wustl.edu	37	10	29822248	29822248	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr10:29822248C>G	ENST00000355867.4	-	8	1800	c.1048G>C	c.(1048-1050)Gat>Cat	p.D350H	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000375398.2_Missense_Mutation_p.D350H	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	350					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGACCCTATCAAAGGCTGAG	0.572																																						dbGAP											0													96.0	80.0	85.0					10																	29822248		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1048G>C	10.37:g.29822248C>G	ENSP00000348128:p.Asp350His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.D350H	ENST00000355867.4	37	c.1048	CCDS7164.1	10	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578222	0.28180	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.49139	0.79;0.79	5.85	3.99	0.46301	.	0.350163	0.26975	N	0.021558	T	0.35740	0.0942	L	0.48362	1.52	0.43351	D	0.995416	B	0.06786	0.001	B	0.06405	0.002	T	0.12630	-1.0540	9	.	.	.	-17.5945	6.1002	0.20043	0.1283:0.5591:0.2448:0.0678	.	350	O95425	SVIL_HUMAN	H	350	ENSP00000364547:D350H;ENSP00000348128:D350H	.	D	-	1	0	SVIL	29862254	0.177000	0.23109	0.723000	0.30687	0.843000	0.47879	0.943000	0.29030	0.804000	0.34136	0.655000	0.94253	GAT	SVIL	-	NULL	ENSG00000197321		0.572	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	67	0.00	0	C			29822248	29822248	-1	no_errors	ENST00000355867	ensembl	human	known	69_37n	missense	58	15.71	11	SNP	0.426	G
SYN3	8224	genome.wustl.edu	37	22	33260985	33260985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr22:33260985G>A	ENST00000358763.2	-	6	870	c.628C>T	c.(628-630)Cag>Tag	p.Q210*	SYN3_ENST00000332840.5_Nonsense_Mutation_p.Q210*	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	210	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTAATGAGCTGAGAGAACTAG	0.448																																						dbGAP											0													163.0	164.0	164.0					22																	33260985		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.628C>T	22.37:g.33260985G>A	ENSP00000351614:p.Gln210*	Somatic		WXS	Illumina GAIIx	Phase_IV	B1B1F9	Nonsense_Mutation	SNP	pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin	p.Q210*	ENST00000358763.2	37	c.628	CCDS13908.1	22	.	.	.	.	.	.	.	.	.	.	G	39	7.716206	0.98450	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	.	.	.	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-4.504	20.2985	0.98592	0.0:0.0:1.0:0.0	.	.	.	.	X	210	.	ENSP00000330219:Q210X	Q	-	1	0	SYN3	31590985	1.000000	0.71417	0.986000	0.45419	0.986000	0.74619	9.790000	0.99075	2.793000	0.96121	0.655000	0.94253	CAG	SYN3	-	pfam_Synapsin_ATP-bd_dom	ENSG00000185666		0.448	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYN3	HGNC	protein_coding	OTTHUMT00000075892.4	29	0.00	0	G			33260985	33260985	-1	no_errors	ENST00000332840	ensembl	human	known	69_37n	nonsense	19	36.67	11	SNP	1.000	A
SYNCRIP	10492	genome.wustl.edu	37	6	86332351	86332351	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:86332351C>T	ENST00000369622.3	-	8	1357	c.857G>A	c.(856-858)aGa>aAa	p.R286K	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.R286K	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	286	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R286fs(2)|p.G287fs*5(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GCAAAAGCCTCTGTTTTTTTT	0.418																																						dbGAP											3	Complex(2)|Deletion - Frameshift(1)	central_nervous_system(3)											122.0	125.0	124.0					6																	86332351		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.857G>A	6.37:g.86332351C>T	ENSP00000358635:p.Arg286Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.R286K	ENST00000369622.3	37	c.857	CCDS5005.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.726082	0.96847	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.14893	2.47;2.47	5.95	5.95	0.96441	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.32194	0.0821	L	0.52759	1.655	0.80722	D	1	D;D;D;P;D;D;D	0.76494	0.994;0.999;0.995;0.684;0.997;0.986;0.994	D;D;D;P;D;P;D	0.77557	0.945;0.99;0.971;0.763;0.978;0.87;0.963	T	0.01819	-1.1267	10	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	286;286;188;134;286;286;286	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	K	286	ENSP00000347380:R286K;ENSP00000358635:R286K	ENSP00000347380:R286K	R	-	2	0	SYNCRIP	86389070	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.741000	0.84997	2.824000	0.97209	0.655000	0.94253	AGA	SYNCRIP	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000135316		0.418	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNCRIP	HGNC	protein_coding	OTTHUMT00000041396.1	50	0.00	0	C	NM_006372		86332351	86332351	-1	no_errors	ENST00000369622	ensembl	human	known	69_37n	missense	52	20.00	13	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152510425	152510425	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:152510425C>G	ENST00000367255.5	-	128	23864	c.23263G>C	c.(23263-23265)Gag>Cag	p.E7755Q	SYNE1_ENST00000265368.4_Missense_Mutation_p.E7755Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E7684Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2279Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E7684Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E7367Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7755					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCAGAAGCTCTACGCGTTCA	0.438										HNSCC(10;0.0054)																												dbGAP											0													147.0	137.0	140.0					6																	152510425		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23263G>C	6.37:g.152510425C>G	ENSP00000356224:p.Glu7755Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E7755Q	ENST00000367255.5	37	c.23263	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548751	0.45383	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29	5.99	5.99	0.97316	.	0.000000	0.64402	D	0.000020	T	0.21881	0.0527	L	0.59436	1.845	0.58432	D	0.999999	B;B;B;B	0.33826	0.195;0.195;0.427;0.301	B;B;B;B	0.27715	0.038;0.038;0.082;0.038	T	0.03017	-1.1082	10	0.40728	T	0.16	.	14.6024	0.68450	0.0:0.931:0.0:0.069	.	7755;7755;7684;7684	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	Q	7755;401;7684;7755;7684;7367;2279;677	ENSP00000356224:E7755Q;ENSP00000356226:E401Q;ENSP00000396024:E7684Q;ENSP00000265368:E7755Q;ENSP00000390975:E7684Q;ENSP00000341887:E7367Q;ENSP00000349276:E2279Q;ENSP00000356220:E677Q	ENSP00000265368:E7755Q	E	-	1	0	SYNE1	152552118	0.999000	0.42202	0.977000	0.42913	0.891000	0.51852	3.983000	0.56916	2.840000	0.97914	0.655000	0.94253	GAG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000131018		0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	68	0.00	0	C	NM_182961		152510425	152510425	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	44	21.43	12	SNP	0.996	G
SYNE2	23224	genome.wustl.edu	37	14	64604687	64604687	+	Silent	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:64604687C>G	ENST00000344113.4	+	79	15041	c.14829C>G	c.(14827-14829)ctC>ctG	p.L4943L	SYNE2_ENST00000358025.3_Silent_p.L4943L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.L1577L|SYNE2_ENST00000394768.2_Silent_p.L1328L|SYNE2_ENST00000554584.1_Silent_p.L4860L|SYNE2_ENST00000357395.3_Silent_p.L1328L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4943					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGCTCTTCTCAAGCATCTGC	0.483																																						dbGAP											0													45.0	41.0	42.0					14																	64604687		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14829C>G	14.37:g.64604687C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L4943	ENST00000344113.4	37	c.14829	CCDS41963.1	14																																																																																			SYNE2	-	NULL	ENSG00000054654		0.483	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	36	0.00	0	C	NM_182914		64604687	64604687	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	silent	30	23.08	9	SNP	1.000	G
SYT17	51760	genome.wustl.edu	37	16	19194943	19194943	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:19194943C>T	ENST00000355377.2	+	5	823	c.425C>T	c.(424-426)tCg>tTg	p.S142L	SYT17_ENST00000562034.1_Missense_Mutation_p.S81L|SYT17_ENST00000568115.1_Missense_Mutation_p.S81L|SYT17_ENST00000562711.2_Missense_Mutation_p.S138L	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	142					exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						ATCCAACCTTCGGTGCTCAGA	0.537																																						dbGAP											0													94.0	87.0	90.0					16																	19194943		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.425C>T	16.37:g.19194943C>T	ENSP00000347538:p.Ser142Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O43330|Q9NZ18	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.S142L	ENST00000355377.2	37	c.425	CCDS10575.1	16	.	.	.	.	.	.	.	.	.	.	c	17.59	3.427520	0.62733	.	.	ENSG00000103528	ENST00000355377	T	0.17213	2.29	5.51	4.56	0.56223	.	0.288882	0.25058	N	0.033469	T	0.08179	0.0204	N	0.19112	0.55	0.80722	D	1	B;P	0.44659	0.382;0.84	B;B	0.27887	0.024;0.084	T	0.28933	-1.0028	10	0.31617	T	0.26	.	10.9313	0.47220	0.0:0.8002:0.1295:0.0703	.	142;81	Q9BSW7;B4DJB2	SYT17_HUMAN;.	L	142	ENSP00000347538:S142L	ENSP00000347538:S142L	S	+	2	0	SYT17	19102444	0.999000	0.42202	0.985000	0.45067	0.847000	0.48162	2.592000	0.46171	1.329000	0.45376	-0.225000	0.12378	TCG	SYT17	-	NULL	ENSG00000103528		0.537	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT17	HGNC	protein_coding	OTTHUMT00000254286.2	45	0.00	0	C	NM_016524		19194943	19194943	+1	no_errors	ENST00000355377	ensembl	human	known	69_37n	missense	47	20.34	12	SNP	0.968	T
SZT2	23334	genome.wustl.edu	37	1	43893678	43893678	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:43893678C>G	ENST00000562955.1	+	26	3637	c.3637C>G	c.(3637-3639)Cag>Gag	p.Q1213E	SZT2_ENST00000372442.1_Missense_Mutation_p.Q371E	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1270					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCCTAGGACTCAGTTCCTCGA	0.537																																						dbGAP											0													126.0	105.0	112.0					1																	43893678		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.3637C>G	1.37:g.43893678C>G	ENSP00000457168:p.Gln1213Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.Q1213E	ENST00000562955.1	37	c.3637	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	C	1.174	-0.639975	0.03557	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.18	5.18	0.71444	.	0.288652	0.35124	N	0.003440	T	0.32224	0.0822	N	0.14661	0.345	0.20403	N	0.999903	B	0.17268	0.021	B	0.21151	0.033	T	0.06180	-1.0841	9	0.09590	T	0.72	.	18.7248	0.91710	0.0:1.0:0.0:0.0	.	1213	Q5T011-5	.	E	371	.	ENSP00000361519:Q371E	Q	+	1	0	SZT2	43666265	1.000000	0.71417	0.979000	0.43373	0.345000	0.29048	5.642000	0.67888	2.420000	0.82092	0.655000	0.94253	CAG	SZT2	-	NULL	ENSG00000198198		0.537	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	48	0.00	0	C	NM_015284		43893678	43893678	+1	no_errors	ENST00000562955	ensembl	human	known	69_37n	missense	56	13.85	9	SNP	1.000	G
SZT2	23334	genome.wustl.edu	37	1	43896169	43896169	+	Missense_Mutation	SNP	G	G	C	rs373556730		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:43896169G>C	ENST00000562955.1	+	31	4312	c.4312G>C	c.(4312-4314)Gac>Cac	p.D1438H	SZT2_ENST00000372442.1_Missense_Mutation_p.D596H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1495					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTACTAGGAGACACATCTGC	0.567																																						dbGAP											0													71.0	69.0	70.0					1																	43896169		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4312G>C	1.37:g.43896169G>C	ENSP00000457168:p.Asp1438His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.D1438H	ENST00000562955.1	37	c.4312	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641555	0.47153	.	.	ENSG00000198198	ENST00000372442	.	.	.	6.17	4.27	0.50696	.	0.232813	0.42682	D	0.000661	T	0.23410	0.0566	L	0.29908	0.895	0.25447	N	0.98805	B	0.32526	0.374	B	0.33521	0.165	T	0.20306	-1.0279	9	0.66056	D	0.02	.	3.256	0.06832	0.2094:0.0:0.5664:0.2241	.	1438	Q5T011-5	.	H	596	.	ENSP00000361519:D596H	D	+	1	0	SZT2	43668756	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.742000	0.47434	1.584000	0.49913	0.655000	0.94253	GAC	SZT2	-	NULL	ENSG00000198198		0.567	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	40	0.00	0	G	NM_015284		43896169	43896169	+1	no_errors	ENST00000562955	ensembl	human	known	69_37n	missense	47	12.96	7	SNP	1.000	C
SYT2	127833	genome.wustl.edu	37	1	202573742	202573742	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:202573742G>A	ENST00000367267.1	-	3	378	c.186C>T	c.(184-186)ccC>ccT	p.P62P	RP11-569A11.1_ENST00000428573.1_RNA|SYT2_ENST00000367268.4_Silent_p.P62P	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	62					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TCAGTGCCCAGGGTGGTACTG	0.542																																						dbGAP											0													77.0	62.0	67.0					1																	202573742		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.186C>T	1.37:g.202573742G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q496K5|Q8NBE5	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_membr_targeting	p.P62	ENST00000367267.1	37	c.186	CCDS1427.1	1																																																																																			SYT2	-	NULL	ENSG00000143858		0.542	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT2	HGNC	protein_coding	OTTHUMT00000099157.1	22	0.00	0	G	NM_177402		202573742	202573742	-1	no_errors	ENST00000367267	ensembl	human	known	69_37n	silent	25	28.57	10	SNP	0.999	A
TAF1	6872	genome.wustl.edu	37	X	70749751	70749751	+	3'UTR	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:70749751G>A	ENST00000461764.1	+	0	1381							P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa						cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CATCTTTAAAGACTGTTGGTG	0.458																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000461764.1:c.*1378G>A	X.37:g.70749751G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	RNA	SNP	-	NULL	ENST00000461764.1	37	NULL		X																																																																																			TAF1	-	-	ENSG00000147133		0.458	TAF1-021	KNOWN	mRNA_end_NF|basic	processed_transcript	TAF1	HGNC	protein_coding	OTTHUMT00000081821.1	10	0.00	0	G	NM_004606		70749751	70749751	+1	no_errors	ENST00000461764	ensembl	human	known	69_37n	rna	11	26.67	4	SNP	0.712	A
TAF1L	138474	genome.wustl.edu	37	9	32631258	32631258	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:32631258G>A	ENST00000242310.4	-	1	4409	c.4320C>T	c.(4318-4320)atC>atT	p.I1440I	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1440	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTGGCCGAGTGATGATTTTGT	0.438																																						dbGAP											0													298.0	248.0	265.0					9																	32631258		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4320C>T	9.37:g.32631258G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VG57	Silent	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.I1440	ENST00000242310.4	37	c.4320	CCDS35003.1	9																																																																																			TAF1L	-	pirsf_TAF1_animal,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain	ENSG00000122728		0.438	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	77	0.00	0	G			32631258	32631258	-1	no_errors	ENST00000242310	ensembl	human	known	69_37n	silent	68	11.69	9	SNP	1.000	A
TAGLN2	8407	genome.wustl.edu	37	1	159888757	159888757	+	Intron	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:159888757G>C	ENST00000368097.4	-	5	769				TAGLN2_ENST00000368096.1_Intron|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Intron	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2						epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)				endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGGTGGTTAGAGGAGATCAC	0.542																																						dbGAP											0													64.0	58.0	60.0					1																	159888757		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710			11554	protein-coding gene	gene with protein product	"""SM22-alpha homolog"""	604634				9693045	Standard	NM_001277223		Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368097.4:c.459-26C>G	1.37:g.159888757G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	RNA	SNP	-	NULL	ENST00000368097.4	37	NULL	CCDS1189.1	1																																																																																			TAGLN2	-	-	ENSG00000158710		0.542	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAGLN2	HGNC	protein_coding	OTTHUMT00000059105.1	25	0.00	0	G	NM_003564		159888757	159888757	-1	no_errors	ENST00000478033	ensembl	human	known	69_37n	rna	23	37.84	14	SNP	0.098	C
TANC2	26115	genome.wustl.edu	37	17	61497523	61497523	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:61497523G>A	ENST00000424789.2	+	25	4184	c.4180G>A	c.(4180-4182)Gaa>Aaa	p.E1394K	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.E1404K	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1394					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GTTGCCGGAAGAAGCAGAACC	0.522																																						dbGAP											0													34.0	41.0	38.0					17																	61497523		2190	4297	6487	-	-	-	SO:0001583	missense	0			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4180G>A	17.37:g.61497523G>A	ENSP00000387593:p.Glu1394Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.E1394K	ENST00000424789.2	37	c.4180	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724610	0.48833	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.66638	-0.22;-0.22	5.58	5.58	0.84498	.	0.140557	0.49305	D	0.000160	T	0.54565	0.1866	N	0.24115	0.695	0.51482	D	0.999922	B	0.20780	0.048	B	0.23018	0.043	T	0.50197	-0.8856	10	0.12766	T	0.61	.	19.5675	0.95401	0.0:0.0:1.0:0.0	.	1394	Q9HCD6	TANC2_HUMAN	K	1404;1394	ENSP00000374171:E1404K;ENSP00000387593:E1394K	ENSP00000374171:E1404K	E	+	1	0	TANC2	58851255	1.000000	0.71417	0.975000	0.42487	0.068000	0.16541	9.593000	0.98250	2.640000	0.89533	0.561000	0.74099	GAA	TANC2	-	NULL	ENSG00000170921		0.522	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	36	0.00	0	G			61497523	61497523	+1	no_errors	ENST00000424789	ensembl	human	known	69_37n	missense	40	16.67	8	SNP	1.000	A
TAS2R8	50836	genome.wustl.edu	37	12	10959018	10959018	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:10959018G>C	ENST00000240615.2	-	1	874	c.562C>G	c.(562-564)Ctg>Gtg	p.L188V		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	188					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATTGCAAACAGGTTAAAGAGA	0.333																																						dbGAP											0													140.0	128.0	132.0					12																	10959018		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.562C>G	12.37:g.10959018G>C	ENSP00000240615:p.Leu188Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KN29|Q645Y2	Missense_Mutation	SNP	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.L188V	ENST00000240615.2	37	c.562	CCDS8632.1	12	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711957	0.30322	.	.	ENSG00000121314	ENST00000240615	T	0.39229	1.09	5.05	-0.4	0.12411	GPCR, rhodopsin-like superfamily (1);	0.496807	0.15366	U	0.266127	T	0.54029	0.1833	M	0.62088	1.915	0.09310	N	1	D	0.59767	0.986	D	0.64877	0.93	T	0.47983	-0.9074	10	0.49607	T	0.09	.	10.1213	0.42623	0.5325:0.0:0.4675:0.0	.	188	Q9NYW2	TA2R8_HUMAN	V	188	ENSP00000240615:L188V	ENSP00000240615:L188V	L	-	1	2	TAS2R8	10850285	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.897000	0.04110	-0.273000	0.09246	-0.813000	0.03139	CTG	TAS2R8	-	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000121314		0.333	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R8	HGNC	protein_coding	OTTHUMT00000399932.1	19	0.00	0	G			10959018	10959018	-1	no_errors	ENST00000240615	ensembl	human	known	69_37n	missense	18	25.00	6	SNP	0.000	C
TAS2R14	50840	genome.wustl.edu	37	12	11230005	11230005	+	Intron	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:11230005C>G	ENST00000381852.4	-	2	152				TAS2R64P_ENST00000534866.1_RNA|PRR4_ENST00000536668.1_Intron			Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14						detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						TTCCCATAATCAGGAAGAATG	0.398																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF227138	CCDS8637.1	12p13	2012-08-22			ENSG00000212127	ENSG00000212127		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14920	protein-coding gene	gene with protein product		604790				10761934, 10766242	Standard	NM_023922		Approved	T2R14, TRB1	uc010shi.2	Q9NYV8	OTTHUMG00000162720	ENST00000381852.4:c.1511-30218G>C	12.37:g.11230005C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q645X3	RNA	SNP	-	NULL	ENST00000381852.4	37	NULL		12																																																																																			TAS2R64P	-	-	ENSG00000256274		0.398	TAS2R14-002	KNOWN	basic	processed_transcript	TAS2R64P	HGNC	protein_coding	OTTHUMT00000402305.1	19	0.00	0	C	NM_023922		11230005	11230005	-1	no_errors	ENST00000534866	ensembl	human	known	69_37n	rna	17	22.73	5	SNP	0.045	G
TBC1D8B	54885	genome.wustl.edu	37	X	106082596	106082596	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:106082596C>T	ENST00000357242.5	+	8	1436	c.1262C>T	c.(1261-1263)aCa>aTa	p.T421I	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.T415I|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.T421I	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	421							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAATCTTTGACAAGTCAGAGG	0.383																																						dbGAP											0													145.0	135.0	138.0					X																	106082596		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1262C>T	X.37:g.106082596C>T	ENSP00000349781:p.Thr421Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.T421I	ENST00000357242.5	37	c.1262	CCDS14522.1	X	.	.	.	.	.	.	.	.	.	.	C	9.711	1.157196	0.21454	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000276175	T;T;T	0.14516	3.07;2.5;3.08	5.45	3.34	0.38264	.	0.549745	0.20144	N	0.098306	T	0.07818	0.0196	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.27640	-1.0068	10	0.35671	T	0.21	0.0175	7.1058	0.25362	0.0:0.7045:0.0:0.2955	.	421;421	Q0IIM8;B9A6K6	TBC8B_HUMAN;.	I	421;421;415	ENSP00000349781:T421I;ENSP00000310675:T421I;ENSP00000276175:T415I	ENSP00000276175:T415I	T	+	2	0	TBC1D8B	105969252	0.716000	0.27956	0.052000	0.19188	0.017000	0.09413	0.273000	0.18662	1.068000	0.40764	0.513000	0.50165	ACA	TBC1D8B	-	NULL	ENSG00000133138		0.383	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	HGNC	protein_coding	OTTHUMT00000057807.2	43	0.00	0	C	NM_017752		106082596	106082596	+1	no_errors	ENST00000357242	ensembl	human	known	69_37n	missense	47	12.96	7	SNP	0.109	T
TECPR2	9895	genome.wustl.edu	37	14	102881013	102881013	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:102881013C>T	ENST00000359520.7	+	5	747	c.521C>T	c.(520-522)tCc>tTc	p.S174F	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.S174F	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	174					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GAGCCATCTTCCATTGTGCAG	0.493																																						dbGAP											0													159.0	143.0	149.0					14																	102881013		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.521C>T	14.37:g.102881013C>T	ENSP00000352510:p.Ser174Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR	p.S174F	ENST00000359520.7	37	c.521	CCDS32162.1	14	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108676	0.77096	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.24151	1.87	5.03	5.03	0.67393	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.130259	0.51477	D	0.000081	T	0.40119	0.1104	M	0.66939	2.045	0.40016	D	0.975355	P;D;D	0.62365	0.855;0.991;0.981	P;P;P	0.51266	0.459;0.646;0.664	T	0.26950	-1.0088	10	0.33141	T	0.24	.	18.3825	0.90455	0.0:1.0:0.0:0.0	.	174;174;174	B4DK51;A5PKY3;O15040	.;.;TCPR2_HUMAN	F	174	ENSP00000352510:S174F	ENSP00000352510:S174F	S	+	2	0	TECPR2	101950766	1.000000	0.71417	0.548000	0.28192	0.959000	0.62525	5.834000	0.69361	2.320000	0.78422	0.561000	0.74099	TCC	TECPR2	-	superfamily_WD40_repeat_dom	ENSG00000196663		0.493	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECPR2	HGNC	protein_coding	OTTHUMT00000415056.2	48	0.00	0	C	NM_014844		102881013	102881013	+1	no_errors	ENST00000359520	ensembl	human	known	69_37n	missense	38	11.63	5	SNP	0.999	T
TECPR2	9895	genome.wustl.edu	37	14	102898394	102898394	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:102898394C>T	ENST00000359520.7	+	8	1572	c.1346C>T	c.(1345-1347)tCa>tTa	p.S449L	TECPR2_ENST00000558678.1_Missense_Mutation_p.S449L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	449					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCCATCAGCTCAGAGGACTTT	0.587																																						dbGAP											0													17.0	17.0	17.0					14																	102898394		2061	4059	6120	-	-	-	SO:0001583	missense	0			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1346C>T	14.37:g.102898394C>T	ENSP00000352510:p.Ser449Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR	p.S449L	ENST00000359520.7	37	c.1346	CCDS32162.1	14	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671925	0.47781	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.15256	2.44	5.39	3.46	0.39613	.	0.682103	0.15216	N	0.274190	T	0.15739	0.0379	L	0.56769	1.78	0.31834	N	0.624354	P;B	0.35077	0.483;0.278	B;B	0.30943	0.122;0.057	T	0.16748	-1.0392	10	0.72032	D	0.01	.	6.5801	0.22589	0.1321:0.6684:0.128:0.0715	.	449;449	A5PKY3;O15040	.;TCPR2_HUMAN	L	449	ENSP00000352510:S449L	ENSP00000352510:S449L	S	+	2	0	TECPR2	101968147	0.108000	0.22018	0.975000	0.42487	0.740000	0.42216	0.448000	0.21726	1.417000	0.47077	0.650000	0.86243	TCA	TECPR2	-	NULL	ENSG00000196663		0.587	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECPR2	HGNC	protein_coding	OTTHUMT00000415056.2	28	0.00	0	C	NM_014844		102898394	102898394	+1	no_errors	ENST00000359520	ensembl	human	known	69_37n	missense	32	25.58	11	SNP	0.899	T
TFAP2A	7020	genome.wustl.edu	37	6	10419816	10419816	+	5'UTR	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:10419816G>A	ENST00000319516.4	-	0	55					NM_001042425.1	NP_001035890.1	P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)						anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|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 (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TGGTCATAAAGAGCTGGGTTG	0.612																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000319516.4:c.-133C>T	6.37:g.10419816G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13777|Q5TAV5|Q8N1C6	RNA	SNP	-	NULL	ENST00000319516.4	37	NULL	CCDS43422.1	6																																																																																			TFAP2A	-	-	ENSG00000137203		0.612	TFAP2A-003	KNOWN	not_organism_supported|not_organism_supported|basic|CCDS	protein_coding	TFAP2A	HGNC	protein_coding	OTTHUMT00000039817.2	21	0.00	0	G	NM_003220		10419816	10419816	-1	no_errors	ENST00000473652	ensembl	human	known	69_37n	rna	37	21.28	10	SNP	1.000	A
TFPI	7035	genome.wustl.edu	37	2	188361632	188361632	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:188361632C>G	ENST00000233156.3	-	3	589	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	TFPI_ENST00000409676.1_Missense_Mutation_p.E99Q|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.E99Q|TFPI_ENST00000392365.1_Missense_Mutation_p.E99Q|AC007319.1_ENST00000453517.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	99	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	TTTTTGCACTCTTCCAGACTT	0.353																																						dbGAP											0													77.0	78.0	78.0					2																	188361632		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"""extrinsic pathway inhibitor"""	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.295G>C	2.37:g.188361632C>G	ENSP00000233156:p.Glu99Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O95103|Q53TS4	Missense_Mutation	SNP	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.E99Q	ENST00000233156.3	37	c.295	CCDS2294.1	2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178051	0.78564	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055;ENST00000435414;ENST00000409676;ENST00000339091;ENST00000437725;ENST00000421427;ENST00000453013	T;T;T;T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23	5.82	5.82	0.92795	Proteinase inhibitor I2, Kunitz metazoa (6);Proteinase inhibitor I2, Kunitz, conserved site (1);	0.217325	0.47455	D	0.000235	T	0.75361	0.3839	M	0.74881	2.28	0.41952	D	0.990665	D;D	0.89917	1.0;0.977	D;P	0.76071	0.987;0.851	T	0.73097	-0.4090	10	0.34782	T	0.22	.	16.8171	0.85736	0.0:1.0:0.0:0.0	.	99;99	P10646-2;P10646	.;TFPI1_HUMAN	Q	99	ENSP00000376172:E99Q;ENSP00000233156:E99Q;ENSP00000397248:E99Q;ENSP00000409177:E99Q;ENSP00000386344:E99Q;ENSP00000342306:E99Q;ENSP00000388159:E99Q;ENSP00000408170:E99Q;ENSP00000394185:E99Q	ENSP00000233156:E99Q	E	-	1	0	TFPI	188069877	1.000000	0.71417	0.999000	0.59377	0.765000	0.43378	3.043000	0.49823	2.767000	0.95098	0.585000	0.79938	GAG	TFPI	-	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	ENSG00000003436		0.353	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI	HGNC	protein_coding	OTTHUMT00000255881.1	41	0.00	0	C	NM_006287		188361632	188361632	-1	no_errors	ENST00000233156	ensembl	human	known	69_37n	missense	29	19.44	7	SNP	1.000	G
TGFBI	7045	genome.wustl.edu	37	5	135383098	135383098	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:135383098G>C	ENST00000442011.2	+	6	921	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	TGFBI_ENST00000305126.8_Missense_Mutation_p.E254Q	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	254	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGACACCTTTGAGACCCTTCG	0.572																																						dbGAP											0													223.0	219.0	220.0					5																	135383098		2082	4202	6284	-	-	-	SO:0001583	missense	0			M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.760G>C	5.37:g.135383098G>C	ENSP00000416330:p.Glu254Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain	p.E254Q	ENST00000442011.2	37	c.760	CCDS47266.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.98|19.98	3.927578|3.927578	0.73327|0.73327	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000442011;ENST00000305126|ENST00000508767	D;D|.	0.91521|.	-2.86;-2.86|.	6.0|6.0	6.0|6.0	0.97389|0.97389	FAS1 domain (4);|.	0.043058|.	0.85682|.	D|.	0.000000|.	T|.	0.58722|.	0.2142|.	N|N	0.25789|0.25789	0.76|0.76	0.58432|0.58432	D|D	0.99999|0.99999	D|.	0.76494|.	0.999|.	D|.	0.70935|.	0.971|.	T|.	0.49390|.	-0.8945|.	10|.	0.72032|.	D|.	0.01|.	-1.1573|-1.1573	20.5597|20.5597	0.99324|0.99324	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	254|.	Q15582|.	BGH3_HUMAN|.	Q|S	254|29	ENSP00000416330:E254Q;ENSP00000306306:E254Q|.	ENSP00000306306:E254Q|.	E|X	+|+	1|2	0|2	TGFBI|TGFBI	135410997|135410997	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.782000|0.782000	0.44232|0.44232	5.491000|5.491000	0.66887|0.66887	2.868000|2.868000	0.98415|0.98415	0.556000|0.556000	0.70494|0.70494	GAG|TGA	TGFBI	-	pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,pfscan_FAS1_domain	ENSG00000120708		0.572	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBI	HGNC	protein_coding	OTTHUMT00000372108.1	54	0.00	0	G			135383098	135383098	+1	no_errors	ENST00000305126	ensembl	human	known	69_37n	missense	46	17.86	10	SNP	1.000	C
THAP4	51078	genome.wustl.edu	37	2	242541339	242541339	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:242541339G>C	ENST00000407315.1	-	5	2017	c.1586C>G	c.(1585-1587)tCc>tGc	p.S529C	THAP4_ENST00000497486.1_5'UTR|THAP4_ENST00000402545.1_Missense_Mutation_p.S117C|THAP4_ENST00000402136.1_Missense_Mutation_p.S117C	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	529							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CTTGGCGAAGGAGATCCTGGC	0.632																																						dbGAP											0													137.0	109.0	118.0					2																	242541339		2203	4296	6499	-	-	-	SO:0001583	missense	0			AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.1586C>G	2.37:g.242541339G>C	ENSP00000385006:p.Ser529Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH	p.S529C	ENST00000407315.1	37	c.1586	CCDS2551.1	2	.	.	.	.	.	.	.	.	.	.	g	22.7	4.320355	0.81469	.	.	ENSG00000176946	ENST00000402136;ENST00000407315;ENST00000402545	D	0.96745	-4.11	5.39	5.39	0.77823	Domain of unknown function DUF1794 (1);Calycin-like (1);	0.211787	0.32386	N	0.006170	D	0.97949	0.9325	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.933	D	0.98583	1.0651	10	0.87932	D	0	-31.8862	14.736	0.69416	0.0:0.1445:0.8555:0.0	.	529;117	Q8WY91;Q8WY91-2	THAP4_HUMAN;.	C	117;529;117	ENSP00000385006:S529C	ENSP00000385931:S117C	S	-	2	0	THAP4	242190012	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.658000	0.74407	2.530000	0.85305	0.655000	0.94253	TCC	THAP4	-	pfam_DUF1794,superfamily_Calycin-like	ENSG00000176946		0.632	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP4	HGNC	protein_coding	OTTHUMT00000257267.3	35	0.00	0	G	NM_015963		242541339	242541339	-1	no_errors	ENST00000407315	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	1.000	C
TIMM8A	1678	genome.wustl.edu	37	X	100603691	100603691	+	5'UTR	SNP	G	G	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:100603691G>T	ENST00000372902.3	-	0	493				TIMM8A_ENST00000480575.1_5'UTR	NM_004085.3	NP_004076.1	O60220	TIM8A_HUMAN	translocase of inner mitochondrial membrane 8 homolog A (yeast)						cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|nervous system development (GO:0007399)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			endometrium(1)|lung(1)	2						ACTCCGCACCGACCTTCACGT	0.662																																						dbGAP											0													42.0	37.0	38.0					X																	100603691		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			U66035	CCDS14481.1	Xq22	2008-02-05	2001-11-28		ENSG00000126953	ENSG00000126953			11817	protein-coding gene	gene with protein product		300356	"""translocase of inner mitochondrial membrane 8 (yeast) homolog A"""	DFN1		10552927, 8841189	Standard	NM_004085		Approved	DDP, MTS	uc004ehd.2	O60220	OTTHUMG00000022028	ENST00000372902.3:c.-39C>A	X.37:g.100603691G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5A6|Q6IRW6	RNA	SNP	-	NULL	ENST00000372902.3	37	NULL	CCDS14481.1	X																																																																																			TIMM8A	-	-	ENSG00000126953		0.662	TIMM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM8A	HGNC	protein_coding	OTTHUMT00000057554.1	59	0.00	0	G	NM_004085		100603691	100603691	-1	no_errors	ENST00000480575	ensembl	human	known	69_37n	rna	57	20.83	15	SNP	1.000	T
TLE4	7091	genome.wustl.edu	37	9	82322052	82322052	+	Intron	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:82322052G>A	ENST00000376552.2	+	11	1954				TLE4_ENST00000376520.4_Silent_p.G317G|TLE4_ENST00000265284.6_Intron|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376537.4_Silent_p.G317G|TLE4_ENST00000376534.4_Intron	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGGATATGGGGAAATTGAGTG	0.373																																						dbGAP											0													221.0	193.0	202.0					9																	82322052		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.936+238G>A	9.37:g.82322052G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	NULL	p.G50E	ENST00000376552.2	37	c.149	CCDS43837.1	9	.	.	.	.	.	.	.	.	.	.	G	7.527	0.657800	0.14645	.	.	ENSG00000106829	ENST00000417836	T	0.42131	0.98	4.7	0.14	0.14804	.	0.424730	0.17896	N	0.158376	T	0.31327	0.0793	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.18023	-1.0350	7	0.39692	T	0.17	0.0466	3.5577	0.07870	0.2989:0.0:0.4847:0.2164	.	.	.	.	E	50	ENSP00000400334:G50E	ENSP00000400334:G50E	G	+	2	0	TLE4	81511872	0.126000	0.22350	0.000000	0.03702	0.461000	0.32589	0.747000	0.26290	-0.175000	0.10725	-0.459000	0.05422	GGA	TLE4	-	NULL	ENSG00000106829		0.373	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE4	HGNC	protein_coding	OTTHUMT00000052792.4	99	0.00	0	G	XM_212237		82322052	82322052	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000417836	ensembl	human	novel	69_37n	missense	81	12.90	12	SNP	0.009	A
TM4SF19	116211	genome.wustl.edu	37	3	196050700	196050700	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:196050700G>A	ENST00000273695.3	-	5	743	c.618C>T	c.(616-618)ctC>ctT	p.L206L	TM4SF19_ENST00000454715.1_Silent_p.L180L|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19_ENST00000446879.1_Missense_Mutation_p.S205F|TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19_ENST00000442633.1_Silent_p.L206L	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	206						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		ACTTCTCGCAGAGGCTGCAGA	0.517																																						dbGAP											0													71.0	72.0	72.0					3																	196050700		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC013113	CCDS3316.1, CCDS56299.1	3q29	2005-08-09			ENSG00000145107	ENSG00000145107			25167	protein-coding gene	gene with protein product						12477932	Standard	NM_138461		Approved		uc021xjs.1	Q96DZ7	OTTHUMG00000155675	ENST00000273695.3:c.618C>T	3.37:g.196050700G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RV20|E9PH22|Q336K7	Splice_Site	SNP	-	NULL	ENST00000273695.3	37	c.NULL	CCDS3316.1	3	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365706	0.61513	.	.	ENSG00000145107	ENST00000446879	T	0.27402	1.67	5.31	5.31	0.75309	.	.	.	.	.	T	0.55369	0.1916	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.58120	-0.7692	8	0.62326	D	0.03	.	14.4827	0.67594	0.0:0.0:1.0:0.0	.	205	C9JCD5	.	F	205	ENSP00000395280:S205F	ENSP00000395280:S205F	S	-	2	0	TM4SF19	197535097	0.998000	0.40836	1.000000	0.80357	0.866000	0.49608	0.195000	0.17155	2.485000	0.83878	0.563000	0.77884	TCT	TM4SF19-AS1	-	-	ENSG00000235897		0.517	TM4SF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM4SF19-AS1	HGNC	protein_coding	OTTHUMT00000341174.1	27	0.00	0	G	NM_138461		196050700	196050700	+1	no_errors	ENST00000452051	ensembl	human	known	69_37n	splice_site	18	14.29	3	SNP	1.000	A
TMCC3	57458	genome.wustl.edu	37	12	94975969	94975969	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:94975969C>G	ENST00000261226.4	-	2	555	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	TMCC3_ENST00000551457.1_Missense_Mutation_p.E111Q	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	142						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TGCTCGATCTCTCTGAGCTTT	0.468																																						dbGAP											0													92.0	90.0	91.0					12																	94975969		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.424G>C	12.37:g.94975969C>G	ENSP00000261226:p.Glu142Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IWB2	Missense_Mutation	SNP	pfam_Predicted_TM_coiled-coil_2	p.E142Q	ENST00000261226.4	37	c.424	CCDS31877.1	12	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699518	0.88830	.	.	ENSG00000057704	ENST00000261226;ENST00000551457;ENST00000548918	T;T;T	0.53640	0.61;0.61;0.61	5.74	5.74	0.90152	.	0.131674	0.64402	D	0.000001	T	0.65407	0.2688	M	0.77486	2.375	0.80722	D	1	P	0.46142	0.873	P	0.51945	0.685	T	0.65837	-0.6071	10	0.54805	T	0.06	-57.3287	20.2825	0.98528	0.0:1.0:0.0:0.0	.	142	Q9ULS5	TMCC3_HUMAN	Q	142;111;111	ENSP00000261226:E142Q;ENSP00000449888:E111Q;ENSP00000450078:E111Q	ENSP00000261226:E142Q	E	-	1	0	TMCC3	93500100	1.000000	0.71417	0.975000	0.42487	0.991000	0.79684	7.634000	0.83273	2.873000	0.98535	0.561000	0.74099	GAG	TMCC3	-	pfam_Predicted_TM_coiled-coil_2	ENSG00000057704		0.468	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC3	HGNC	protein_coding	OTTHUMT00000408113.1	42	0.00	0	C	NM_020698		94975969	94975969	-1	no_errors	ENST00000261226	ensembl	human	known	69_37n	missense	36	14.29	6	SNP	1.000	G
TMEM242	729515	genome.wustl.edu	37	6	157744494	157744494	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:157744494G>A	ENST00000400788.4	-	1	139	c.38C>T	c.(37-39)tCt>tTt	p.S13F	TMEM242_ENST00000367144.4_Missense_Mutation_p.S13F|RP5-933K21.3_ENST00000603032.1_lincRNA	NM_018452.4	NP_060922.2	Q9NWH2	TM242_HUMAN	transmembrane protein 242	13						integral component of membrane (GO:0016021)											CTCCAGCCCAGAGGCCGGCTG	0.647																																						dbGAP											0													108.0	120.0	116.0					6																	157744494		1915	4126	6041	-	-	-	SO:0001583	missense	0			AF217510	CCDS43519.1	6q25.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000215712	ENSG00000215712			17206	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 35"""	C6orf35			Standard	NM_018452		Approved	BM033	uc003sih.4	Q9NWH2	OTTHUMG00000015893	ENST00000400788.4:c.38C>T	6.37:g.157744494G>A	ENSP00000383594:p.Ser13Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EJD0|Q9NZ88|Q9P094	Missense_Mutation	SNP	pfam_DUF1358	p.S13F	ENST00000400788.4	37	c.38	CCDS43519.1	6	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386584	0.61956	.	.	ENSG00000215712	ENST00000400788;ENST00000367144	.	.	.	3.37	3.37	0.38596	.	1.367670	0.05118	N	0.490220	T	0.41903	0.1179	M	0.65975	2.015	0.09310	N	1	P	0.42203	0.773	P	0.48524	0.58	T	0.44636	-0.9315	9	0.87932	D	0	-2.0286	10.5489	0.45077	0.0:0.0:1.0:0.0	.	13	Q9NWH2	CF035_HUMAN	F	13	.	ENSP00000356112:S13F	S	-	2	0	C6orf35	157664482	0.014000	0.17966	0.001000	0.08648	0.072000	0.16883	2.299000	0.43611	-0.081000	0.12662	0.460000	0.39030	TCT	TMEM242	-	pfam_DUF1358	ENSG00000215712		0.647	TMEM242-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM242	HGNC	protein_coding	OTTHUMT00000042837.2	76	0.00	0	G			157744494	157744494	-1	no_errors	ENST00000400788	ensembl	human	known	69_37n	missense	72	12.20	10	SNP	0.001	A
TMEM246	84302	genome.wustl.edu	37	9	104238680	104238680	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:104238680A>G	ENST00000374851.1	-	4	1842	c.695T>C	c.(694-696)tTc>tCc	p.F232S	RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.F232S|TMEM246_ENST00000374847.1_Missense_Mutation_p.F232S|RP11-490D19.6_ENST00000425734.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	232						integral component of membrane (GO:0016021)											TGGCTCAGAGAAGCGAGCCCG	0.542																																						dbGAP											0													79.0	75.0	76.0					9																	104238680		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.695T>C	9.37:g.104238680A>G	ENSP00000363984:p.Phe232Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AQ4	Missense_Mutation	SNP	NULL	p.F232S	ENST00000374851.1	37	c.695	CCDS6757.1	9	.	.	.	.	.	.	.	.	.	.	A	20.5	3.994732	0.74703	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.36	5.36	0.76844	.	0.110488	0.64402	D	0.000006	T	0.66896	0.2836	M	0.63428	1.95	0.53688	D	0.999976	D	0.62365	0.991	P	0.61070	0.883	T	0.63382	-0.6650	9	0.08837	T	0.75	-12.314	14.8572	0.70347	1.0:0.0:0.0:0.0	.	232	Q9BRR3	CI125_HUMAN	S	232	.	ENSP00000363980:F232S	F	-	2	0	C9orf125	103278501	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.943000	0.75934	2.177000	0.69029	0.455000	0.32223	TTC	TMEM246	-	NULL	ENSG00000165152		0.542	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM246	HGNC	protein_coding	OTTHUMT00000053444.1	35	0.00	0	A	NM_032342		104238680	104238680	-1	no_errors	ENST00000374847	ensembl	human	known	69_37n	missense	43	10.42	5	SNP	1.000	G
TMEM62	80021	genome.wustl.edu	37	15	43473405	43473405	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr15:43473405G>C	ENST00000260403.2	+	13	1792	c.1513G>C	c.(1513-1515)Gat>Cat	p.D505H	TMEM62_ENST00000569369.1_3'UTR|EPB42_ENST00000563128.1_Intron|RP11-473C18.3_ENST00000565685.1_RNA	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	505						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TGAAATCATTGATGGCAAATT	0.333																																						dbGAP											0													235.0	229.0	231.0					15																	43473405		2202	4298	6500	-	-	-	SO:0001583	missense	0			BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.1513G>C	15.37:g.43473405G>C	ENSP00000260403:p.Asp505His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	superfamily_Cadherin-like	p.D505H	ENST00000260403.2	37	c.1513	CCDS32210.1	15	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832406	0.71258	.	.	ENSG00000137842	ENST00000260403	.	.	.	4.58	2.5	0.30297	.	0.302836	0.38663	N	0.001605	T	0.65004	0.2650	M	0.66939	2.045	0.58432	D	0.999996	D	0.59767	0.986	P	0.58454	0.839	T	0.65813	-0.6077	9	0.62326	D	0.03	-1.4347	7.5608	0.27849	0.205:0.0:0.795:0.0	.	505	Q0P6H9	TMM62_HUMAN	H	505	.	ENSP00000260403:D505H	D	+	1	0	TMEM62	41260697	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.756000	0.55205	1.075000	0.40932	0.462000	0.41574	GAT	TMEM62	-	NULL	ENSG00000137842		0.333	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM62	HGNC	protein_coding	OTTHUMT00000432227.1	113	0.00	0	G	NM_024956		43473405	43473405	+1	no_errors	ENST00000260403	ensembl	human	known	69_37n	missense	86	13.13	13	SNP	1.000	C
TMIGD2	126259	genome.wustl.edu	37	19	4292732	4292732	+	Nonsense_Mutation	SNP	G	G	C	rs144046862		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:4292732G>C	ENST00000301272.2	-	5	758	c.713C>G	c.(712-714)tCa>tGa	p.S238*	TMIGD2_ENST00000600349.1_Nonsense_Mutation_p.S66*|TMIGD2_ENST00000595645.1_Nonsense_Mutation_p.S234*|TMIGD2_ENST00000600114.1_Nonsense_Mutation_p.S118*	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	238	Pro-rich.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.S238*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		gcagggTCTTGACGCCAGGTG	0.677																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											26.0	34.0	31.0					19																	4292732		2196	4294	6490	-	-	-	SO:0001587	stop_gained	0			BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.713C>G	19.37:g.4292732G>C	ENSP00000301272:p.Ser238*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UW59	Nonsense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.S238*	ENST00000301272.2	37	c.713	CCDS12126.1	19	.	.	.	.	.	.	.	.	.	.	G	10.26	1.302182	0.23736	.	.	ENSG00000167664	ENST00000301272	.	.	.	0.743	0.743	0.18347	.	.	.	.	.	.	.	.	.	.	.	0.34867	D	0.74322	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	4.7007	0.12825	0.0:0.0:1.0:0.0	.	.	.	.	X	238	.	ENSP00000301272:S238X	S	-	2	0	TMIGD2	4243732	0.017000	0.18338	0.010000	0.14722	0.008000	0.06430	0.645000	0.24782	0.088000	0.17205	0.089000	0.15464	TCA	TMIGD2	-	NULL	ENSG00000167664		0.677	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMIGD2	HGNC	protein_coding	OTTHUMT00000458088.1	50	0.00	0	G	NM_144615		4292732	4292732	-1	no_errors	ENST00000301272	ensembl	human	known	69_37n	nonsense	41	19.61	10	SNP	0.006	C
TMPRSS11E	28983	genome.wustl.edu	37	4	69343230	69343230	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:69343230C>G	ENST00000305363.4	+	8	915	c.851C>G	c.(850-852)tCt>tGt	p.S284C		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	284	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						GCAGAGCTTTCTAGCCCTGTT	0.408																																						dbGAP											0													264.0	264.0	264.0					4																	69343230		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.851C>G	4.37:g.69343230C>G	ENSP00000307519:p.Ser284Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_SEA,pfscan_Peptidase_S1_S6	p.S284C	ENST00000305363.4	37	c.851	CCDS33993.1	4	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468986	0.63625	.	.	ENSG00000087128	ENST00000305363	D	0.89681	-2.55	5.24	4.36	0.52297	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.299368	0.23849	N	0.043979	D	0.91818	0.7411	M	0.77820	2.39	0.31750	N	0.634712	D	0.76494	0.999	P	0.60236	0.871	D	0.91344	0.5099	10	0.87932	D	0	.	6.7674	0.23575	0.1765:0.7332:0.0:0.0903	.	284	Q9UL52	TM11E_HUMAN	C	284	ENSP00000307519:S284C	ENSP00000307519:S284C	S	+	2	0	TMPRSS11E	69025825	0.470000	0.25854	0.802000	0.32245	0.973000	0.67179	1.554000	0.36266	2.435000	0.82474	0.585000	0.79938	TCT	TMPRSS11E	-	pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	ENSG00000087128		0.408	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11E	HGNC	protein_coding	OTTHUMT00000360584.1	44	0.00	0	C	NM_014058		69343230	69343230	+1	no_errors	ENST00000305363	ensembl	human	known	69_37n	missense	61	10.29	7	SNP	0.793	G
TMPRSS7	344805	genome.wustl.edu	37	3	111785247	111785247	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:111785247C>T	ENST00000452346.2	+	13	1567	c.1564C>T	c.(1564-1566)Caa>Taa	p.Q522*	TMPRSS7_ENST00000419127.1_Nonsense_Mutation_p.Q396*			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	522	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGTGAGCCCTCAACCTGCCTG	0.498																																						dbGAP											0													86.0	86.0	86.0					3																	111785247		1939	4138	6077	-	-	-	SO:0001587	stop_gained	0			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1564C>T	3.37:g.111785247C>T	ENSP00000398236:p.Gln522*	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J8P7|E9PAS3|Q17RH4	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.Q396*	ENST00000452346.2	37	c.1186		3	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044926	0.75732	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	.	.	.	5.52	1.76	0.24704	.	0.642395	0.16558	N	0.209197	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	11.3933	0.49827	0.5324:0.4676:0.0:0.0	.	.	.	.	X	522;510;496;396	.	ENSP00000411645:Q396X	Q	+	1	0	TMPRSS7	113267937	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.609000	0.24238	0.118000	0.18165	-0.262000	0.10625	CAA	TMPRSS7	-	superfamily_LDrepeatLR_classA_rpt	ENSG00000176040		0.498	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	TMPRSS7	HGNC	protein_coding	OTTHUMT00000347592.2	30	0.00	0	C	XM_293599		111785247	111785247	+1	no_errors	ENST00000419127	ensembl	human	known	69_37n	nonsense	21	32.26	10	SNP	0.000	T
TNFRSF1A	7132	genome.wustl.edu	37	12	6439172	6439172	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:6439172G>C	ENST00000162749.2	-	9	1128	c.829C>G	c.(829-831)Cca>Gca	p.P277A	TNFRSF1A_ENST00000437813.3_5'Flank|TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.P234A	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	277					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						gtgaagcctggagtgggactg	0.602																																						dbGAP											0													38.0	46.0	43.0					12																	6439172		2202	4299	6501	-	-	-	SO:0001583	missense	0			M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.829C>G	12.37:g.6439172G>C	ENSP00000162749:p.Pro277Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1A	p.P277A	ENST00000162749.2	37	c.829	CCDS8542.1	12	.	.	.	.	.	.	.	.	.	.	G	8.233	0.805152	0.16467	.	.	ENSG00000067182	ENST00000162749;ENST00000540022	D;D	0.91894	-2.91;-2.93	4.74	-6.83	0.01693	.	1.758380	0.02613	N	0.102330	T	0.80053	0.4553	N	0.16478	0.41	0.09310	N	1	B;B	0.28291	0.206;0.001	B;B	0.25140	0.058;0.001	T	0.72693	-0.4216	9	.	.	.	0.4772	0.7795	0.01038	0.304:0.1012:0.234:0.3608	.	234;277	F5H061;P19438	.;TNR1A_HUMAN	A	277;234	ENSP00000162749:P277A;ENSP00000438343:P234A	.	P	-	1	0	TNFRSF1A	6309433	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.400000	0.07241	-2.219000	0.00729	-0.258000	0.10820	CCA	TNFRSF1A	-	NULL	ENSG00000067182		0.602	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1A	HGNC	protein_coding	OTTHUMT00000399038.1	31	0.00	0	G	NM_001065		6439172	6439172	-1	no_errors	ENST00000162749	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	0.000	C
TNFRSF1A	7132	genome.wustl.edu	37	12	6443376	6443376	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:6443376G>C	ENST00000162749.2	-	2	373	c.74C>G	c.(73-75)tCa>tGa	p.S25*	TNFRSF1A_ENST00000437813.3_5'UTR|TNFRSF1A_ENST00000366159.4_Nonsense_Mutation_p.S25*|TNFRSF1A_ENST00000540022.1_Nonsense_Mutation_p.S25*	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	25					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						AATAACCCCTGAGGGGTATAT	0.507																																						dbGAP											0													76.0	78.0	77.0					12																	6443376		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.74C>G	12.37:g.6443376G>C	ENSP00000162749:p.Ser25*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Nonsense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1A	p.S25*	ENST00000162749.2	37	c.74	CCDS8542.1	12	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215555	0.58452	.	.	ENSG00000067182	ENST00000162749;ENST00000540022;ENST00000539372;ENST00000366159;ENST00000440083;ENST00000536194	.	.	.	4.0	-1.98	0.07480	.	3.847770	0.00397	N	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	2.4328	2.8045	0.05424	0.3294:0.0:0.3387:0.3319	.	.	.	.	X	25	.	ENSP00000162749:S25X	S	-	2	0	TNFRSF1A	6313637	0.000000	0.05858	0.001000	0.08648	0.706000	0.40770	0.121000	0.15667	-0.251000	0.09542	0.563000	0.77884	TCA	TNFRSF1A	-	prints_TNFR_1A	ENSG00000067182		0.507	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1A	HGNC	protein_coding	OTTHUMT00000399038.1	53	0.00	0	G	NM_001065		6443376	6443376	-1	no_errors	ENST00000162749	ensembl	human	known	69_37n	nonsense	44	25.42	15	SNP	0.000	C
TNR	7143	genome.wustl.edu	37	1	175372702	175372702	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:175372702C>G	ENST00000367674.2	-	4	1258	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	TNR_ENST00000263525.2_Missense_Mutation_p.E184Q			Q92752	TENR_HUMAN	tenascin R	184	Cys-rich.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCACAGGACTCAAAGCTAAAG	0.572																																						dbGAP											0													78.0	82.0	81.0					1																	175372702		2203	4300	6503	-	-	-	SO:0001583	missense	0			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.550G>C	1.37:g.175372702C>G	ENSP00000356646:p.Glu184Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.E184Q	ENST00000367674.2	37	c.550	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924769	0.52653	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.05258	3.47;3.47	6.02	4.16	0.48862	.	0.110120	0.64402	N	0.000008	T	0.06645	0.0170	L	0.38953	1.18	0.47341	D	0.999396	B;B	0.17852	0.024;0.001	B;B	0.15052	0.012;0.002	T	0.21381	-1.0247	10	0.45353	T	0.12	.	11.8697	0.52513	0.0:0.8042:0.129:0.0668	.	184;184	B4DIX8;Q92752	.;TENR_HUMAN	Q	184	ENSP00000356646:E184Q;ENSP00000263525:E184Q	ENSP00000263525:E184Q	E	-	1	0	TNR	173639325	1.000000	0.71417	0.862000	0.33874	0.974000	0.67602	6.038000	0.70964	0.878000	0.35920	0.655000	0.94253	GAG	TNR	-	NULL	ENSG00000116147		0.572	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	49	0.00	0	C	NM_003285		175372702	175372702	-1	no_errors	ENST00000263525	ensembl	human	known	69_37n	missense	51	12.07	7	SNP	0.998	G
TNRC6C	57690	genome.wustl.edu	37	17	76047316	76047316	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:76047316G>C	ENST00000588061.1	+	5	2900	c.2173G>C	c.(2173-2175)Gat>Cat	p.D725H	TNRC6C_ENST00000588847.1_Missense_Mutation_p.D725H|TNRC6C_ENST00000541771.1_Missense_Mutation_p.D725H|TNRC6C_ENST00000335749.4_Missense_Mutation_p.D725H|TNRC6C_ENST00000301624.4_Missense_Mutation_p.D725H|TNRC6C_ENST00000544502.1_Missense_Mutation_p.D725H			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	725	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AATGGAAATTGATGATGGTAC	0.522																																						dbGAP											0													27.0	28.0	28.0					17																	76047316		1944	4123	6067	-	-	-	SO:0001583	missense	0			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2173G>C	17.37:g.76047316G>C	ENSP00000468647:p.Asp725His	Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.D725H	ENST00000588061.1	37	c.2173	CCDS45798.1	17	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028460	0.75390	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.68025	-0.3;-0.23;-0.23;-0.3	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.84147	0.5408	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.84563	0.0651	10	0.87932	D	0	-20.7179	20.6634	0.99662	0.0:0.0:1.0:0.0	.	725;725;725	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	H	725	ENSP00000336783:D725H;ENSP00000301624:D725H;ENSP00000440310:D725H;ENSP00000442421:D725H	ENSP00000301624:D725H	D	+	1	0	TNRC6C	73558911	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	9.787000	0.99055	2.894000	0.99253	0.655000	0.94253	GAT	TNRC6C	-	NULL	ENSG00000078687		0.522	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1	41	0.00	0	G	NM_018996		76047316	76047316	+1	no_errors	ENST00000335749	ensembl	human	known	69_37n	missense	29	30.95	13	SNP	1.000	C
TNS3	64759	genome.wustl.edu	37	7	47408074	47408074	+	Silent	SNP	G	G	A	rs531561984	byFrequency	TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:47408074G>A	ENST00000398879.1	-	17	2535	c.2169C>T	c.(2167-2169)ctC>ctT	p.L723L	TNS3_ENST00000355730.3_Silent_p.L483L|TNS3_ENST00000311160.9_Silent_p.L723L			Q68CZ2	TENS3_HUMAN	tensin 3	723					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CCTGGCTACCGAGGGCGTTCA	0.652													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17629	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													88.0	102.0	97.0					7																	47408074		2034	4182	6216	-	-	-	SO:0001819	synonymous_variant	0			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2169C>T	7.37:g.47408074G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.L723	ENST00000398879.1	37	c.2169	CCDS5506.2	7																																																																																			TNS3	-	NULL	ENSG00000136205		0.652	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	65	0.00	0	G	NM_022748		47408074	47408074	-1	no_errors	ENST00000311160	ensembl	human	known	69_37n	silent	99	10.00	11	SNP	0.000	A
TNXB	7148	genome.wustl.edu	37	6	32039828	32039828	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:32039828G>A	ENST00000375244.3	-	13	5130	c.4929C>T	c.(4927-4929)ttC>ttT	p.F1643F	TNXB_ENST00000375247.2_Silent_p.F1643F			P22105	TENX_HUMAN	tenascin XB	1725	Fibronectin type-III 8. {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						CAAAGAGCAGGAACTTGTACT	0.617																																						dbGAP											0													36.0	37.0	36.0					6																	32039828		1950	4142	6092	-	-	-	SO:0001819	synonymous_variant	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.4929C>T	6.37:g.32039828G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	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.F1643	ENST00000375244.3	37	c.4929		6																																																																																			TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168477		0.617	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	43	0.00	0	G	NM_019105		32039828	32039828	-1	no_errors	ENST00000375247	ensembl	human	known	69_37n	silent	41	18.00	9	SNP	0.999	A
TPM3	7170	genome.wustl.edu	37	1	154155529	154155529	+	Intron	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:154155529C>T	ENST00000368530.2	-	3	436				TPM3_ENST00000368531.2_Missense_Mutation_p.D23N|TPM3_ENST00000368533.3_Missense_Mutation_p.D23N|TPM3_ENST00000323144.7_Missense_Mutation_p.D23N|TPM3_ENST00000341485.5_Missense_Mutation_p.D23N|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000271850.7_Intron|TPM3_ENST00000341372.3_Missense_Mutation_p.D23N|TPM3_ENST00000328159.4_Missense_Mutation_p.D23N|TPM3_ENST00000330188.9_Missense_Mutation_p.D23N	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TCCTCTGCATCATCTGCCTGC	0.637			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																	dbGAP		Dom	yes		1	1q22-q23	7170	tropomyosin 3		"""E, L"""	0													76.0	73.0	74.0					1																	154155529		2203	4296	6499	-	-	-	SO:0001627	intron_variant	0			BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.244-6805G>A	1.37:g.154155529C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Missense_Mutation	SNP	pfam_Tropomyosin,superfamily_HR1_rho-bd,prints_Tropomyosin	p.D23N	ENST00000368530.2	37	c.67	CCDS41403.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037925	0.75617	.	.	ENSG00000143549	ENST00000368533;ENST00000341485;ENST00000330188;ENST00000341372;ENST00000328159;ENST00000368531;ENST00000323144	T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	4.98	4.98	0.66077	.	.	.	.	.	T	0.68860	0.3047	N	0.12422	0.21	0.80722	D	1	B;D;B;B;B	0.58268	0.014;0.982;0.005;0.003;0.028	B;P;B;B;B	0.59825	0.033;0.864;0.02;0.02;0.098	T	0.71932	-0.4443	9	0.35671	T	0.21	.	16.9839	0.86335	0.0:1.0:0.0:0.0	.	23;23;23;23;23	Q5VU58;P06753-3;P06753-2;Q5VU72;Q5VU66	.;.;.;.;.	N	23	ENSP00000357521:D23N;ENSP00000341653:D23N;ENSP00000339035:D23N;ENSP00000339378:D23N;ENSP00000357520:D23N;ENSP00000357517:D23N;ENSP00000357518:D23N	ENSP00000357518:D23N	D	-	1	0	TPM3	152422153	0.068000	0.21057	0.959000	0.39883	0.986000	0.74619	3.061000	0.49963	2.576000	0.86940	0.655000	0.94253	GAT	TPM3	-	pfam_Tropomyosin	ENSG00000143549		0.637	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM3	HGNC	protein_coding	OTTHUMT00000087271.2	44	0.00	0	C	NM_152263		154155529	154155529	-1	no_errors	ENST00000330188	ensembl	human	known	69_37n	missense	34	35.85	19	SNP	0.994	T
TPR	7175	genome.wustl.edu	37	1	186325574	186325574	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:186325574C>G	ENST00000367478.4	-	15	2028	c.1732G>C	c.(1732-1734)Gag>Cag	p.E578Q	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	578					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AGCTGAAGCTCAGTGATTCTG	0.418			T	NTRK1	papillary thyroid																																	dbGAP		Dom	yes		1	1q25	7175	translocated promoter region		E	0													98.0	92.0	94.0					1																	186325574		1921	4141	6062	-	-	-	SO:0001583	missense	0			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1732G>C	1.37:g.186325574C>G	ENSP00000356448:p.Glu578Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.E578Q	ENST00000367478.4	37	c.1732	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596975	0.87055	.	.	ENSG00000047410	ENST00000367478	T	0.25749	1.78	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.51180	-0.8738	10	0.45353	T	0.12	.	19.7297	0.96177	0.0:1.0:0.0:0.0	.	578	P12270	TPR_HUMAN	Q	578	ENSP00000356448:E578Q	ENSP00000356448:E578Q	E	-	1	0	TPR	184592197	1.000000	0.71417	0.998000	0.56505	0.691000	0.40173	6.943000	0.75934	2.763000	0.94921	0.557000	0.71058	GAG	TPR	-	NULL	ENSG00000047410		0.418	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	29	0.00	0	C	NM_003292		186325574	186325574	-1	no_errors	ENST00000367478	ensembl	human	known	69_37n	missense	34	24.44	11	SNP	1.000	G
TRAFD1	10906	genome.wustl.edu	37	12	112572675	112572675	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:112572675C>G	ENST00000257604.5	+	3	798	c.181C>G	c.(181-183)Cag>Gag	p.Q61E	TRAFD1_ENST00000412615.2_Missense_Mutation_p.Q61E	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	61					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						AGAACACTGTCAGGTGAGCCA	0.408																																						dbGAP											0													135.0	127.0	130.0					12																	112572675		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.181C>G	12.37:g.112572675C>G	ENSP00000257604:p.Gln61Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5L6|B4DI89	Missense_Mutation	SNP	superfamily_TRAF-like	p.Q61E	ENST00000257604.5	37	c.181	CCDS9160.1	12	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880928	0.72294	.	.	ENSG00000135148	ENST00000412615;ENST00000549358;ENST00000257604;ENST00000552896	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.1	5.1	0.69264	.	0.189051	0.46442	D	0.000284	T	0.48519	0.1504	L	0.45470	1.425	0.38830	D	0.955822	D;D	0.76494	0.999;0.978	D;P	0.71414	0.973;0.7	T	0.43294	-0.9400	10	0.37606	T	0.19	-15.4142	17.3132	0.87215	0.0:1.0:0.0:0.0	.	61;61	F8VNX8;O14545	.;TRAD1_HUMAN	E	61	ENSP00000396526:Q61E;ENSP00000449319:Q61E;ENSP00000257604:Q61E;ENSP00000450357:Q61E	ENSP00000257604:Q61E	Q	+	1	0	TRAFD1	111057058	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.800000	0.47900	2.382000	0.81193	0.555000	0.69702	CAG	TRAFD1	-	NULL	ENSG00000135148		0.408	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAFD1	HGNC	protein_coding	OTTHUMT00000405214.1	48	0.00	0	C	NM_006700		112572675	112572675	+1	no_errors	ENST00000257604	ensembl	human	known	69_37n	missense	52	21.21	14	SNP	1.000	G
TRAK2	66008	genome.wustl.edu	37	2	202265750	202265750	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:202265750G>A	ENST00000332624.3	-	4	782	c.354C>T	c.(352-354)ctC>ctT	p.L118L	TRAK2_ENST00000430254.1_Silent_p.L118L	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	118	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CCTCTGCCAGGAGATGTGTAA	0.358																																						dbGAP											0													147.0	133.0	138.0					2																	202265750		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.354C>T	2.37:g.202265750G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Silent	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.L118	ENST00000332624.3	37	c.354	CCDS2347.1	2																																																																																			TRAK2	-	pfam_HAP1_N	ENSG00000115993		0.358	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAK2	HGNC	protein_coding	OTTHUMT00000256284.3	44	0.00	0	G	NM_015049		202265750	202265750	-1	no_errors	ENST00000332624	ensembl	human	known	69_37n	silent	42	12.50	6	SNP	1.000	A
TRAPPC2P1	10597	genome.wustl.edu	37	19	57876444	57876444	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:57876444G>A	ENST00000596755.1	+	1	1510	c.243G>A	c.(241-243)atG>atA	p.M81I	TRAPPC2P1_ENST00000543226.1_Missense_Mutation_p.M81I|AC003002.4_ENST00000597658.1_Intron|ZNF547_ENST00000282282.3_Intron			P0DI82	TPC2B_HUMAN	trafficking protein particle complex 2 pseudogene 1	81					ER to Golgi vesicle-mediated transport (GO:0006888)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				kidney(1)|lung(2)	3						CGGGGCATATGAGGTTTATTA	0.353																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					19q13.43	2009-03-02	2009-03-02	2009-03-02		ENSG00000256060			10710	pseudogene	pseudogene			"""spondyloepiphyseal dysplasia, late, pseudogene"""	SEDLP			Standard	NR_002166		Approved	SEDLP1		P0DI82		ENST00000596755.1:c.243G>A	19.37:g.57876444G>A	ENSP00000469888:p.Met81Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEG0|O14582|Q9HD16	Missense_Mutation	SNP	pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom	p.M81I	ENST00000596755.1	37	c.243		19	.	.	.	.	.	.	.	.	.	.	G	1.137	-0.650611	0.03506	.	.	ENSG00000256060	ENST00000543226	D	0.89123	-2.47	2.83	1.72	0.24424	.	0.773260	0.12802	N	0.437868	T	0.75817	0.3901	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63932	-0.6525	7	0.02654	T	1	.	8.801	0.34909	0.0:0.0:0.7731:0.2269	.	.	.	.	I	81	ENSP00000442778:M81I	ENSP00000442778:M81I	M	+	3	0	AC003002.1	62568256	1.000000	0.71417	0.525000	0.27900	0.969000	0.65631	1.527000	0.35975	0.482000	0.27582	0.479000	0.44913	ATG	TRAPPC2P1	-	pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom	ENSG00000256060		0.353	TRAPPC2P1-003	PUTATIVE	basic|appris_principal	protein_coding	TRAPPC2P1	HGNC	protein_coding	OTTHUMT00000465929.1	82	0.00	0	G			57876444	57876444	+1	no_errors	ENST00000543226	ensembl	human	known	69_37n	missense	91	15.74	17	SNP	0.996	A
TRAPPC9	83696	genome.wustl.edu	37	8	140743268	140743268	+	3'UTR	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:140743268C>G	ENST00000438773.2	-	0	3616				TRAPPC9_ENST00000522504.1_5'UTR|TRAPPC9_ENST00000389327.3_3'UTR|TRAPPC9_ENST00000389328.4_3'UTR	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9						cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						AGGGTCACCTCTGGCCCTGCA	0.667																																						dbGAP											0													34.0	32.0	33.0					8																	140743268		2199	4299	6498	-	-	-	SO:0001624	3_prime_UTR_variant	0			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.*36G>C	8.37:g.140743268C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	RNA	SNP	-	NULL	ENST00000438773.2	37	NULL	CCDS55278.1	8																																																																																			TRAPPC9	-	-	ENSG00000167632		0.667	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1	21	0.00	0	C	NM_031466		140743268	140743268	-1	no_errors	ENST00000521667	ensembl	human	known	69_37n	rna	33	21.43	9	SNP	0.021	G
TRAV24	28659	genome.wustl.edu	37	14	22573956	22573956	+	RNA	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:22573956G>C	ENST00000390453.1	+	0	176									T cell receptor alpha variable 24																		CACTGGTACAGATGGGAAACT	0.453																																						dbGAP											0													47.0	46.0	47.0					14																	22573956		1853	4112	5965	-	-	-			0			AE000660		14q11.2	2012-02-07			ENSG00000211805	ENSG00000211805		"""T cell receptors / TRA locus"""	12121	other	T cell receptor gene						12594262, 8188290	Standard	NG_001332		Approved				OTTHUMG00000170652		14.37:g.22573956G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R59T	ENST00000390453.1	37	c.176		14																																																																																			TRAV24	-	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211805		0.453	TRAV24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRAV24	HGNC	TR_V_gene	OTTHUMT00000409900.1	73	0.00	0	G	NG_001332		22573956	22573956	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390453	ensembl	human	known	69_37n	missense	39	15.22	7	SNP	0.032	C
TRIM50	135892	genome.wustl.edu	37	7	72738405	72738405	+	Silent	SNP	G	G	A	rs543088756		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:72738405G>A	ENST00000333149.2	-	2	581	c.381C>T	c.(379-381)acC>acT	p.T127T	TRIM50_ENST00000493498.1_5'UTR|TRIM50_ENST00000453152.1_Silent_p.T127T	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	127						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GGCTGTAGACGGTGGAGACGG	0.657											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0008	0.0	5008	,	,		16079	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													52.0	57.0	55.0					7																	72738405		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19017	protein-coding gene	gene with protein product		612548	"""tripartite motif-containing 50A"", ""tripartite motif-containing 50"""	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.381C>T	7.37:g.72738405G>A		Somatic	1139	WXS	Illumina GAIIx	Phase_IV	Q86XT3	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.T127	ENST00000333149.2	37	c.381	CCDS34654.1	7																																																																																			TRIM50	-	NULL	ENSG00000146755		0.657	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM50	HGNC	protein_coding	OTTHUMT00000345925.1	111	0.00	0	G	NM_178125		72738405	72738405	-1	no_errors	ENST00000333149	ensembl	human	known	69_37n	silent	108	20.00	27	SNP	0.984	A
TRIM24	8805	genome.wustl.edu	37	7	138269544	138269544	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:138269544C>G	ENST00000343526.4	+	19	3216	c.3001C>G	c.(3001-3003)Cta>Gta	p.L1001V	TRIM24_ENST00000415680.2_Missense_Mutation_p.L967V			O15164	TIF1A_HUMAN	tripartite motif containing 24	1001					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TGAAGAACTTCTAAAGAACCT	0.313																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	dbGAP											0													50.0	52.0	52.0					7																	138269544		2199	4298	6497	-	-	-	SO:0001583	missense	0			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.3001C>G	7.37:g.138269544C>G	ENSP00000340507:p.Leu1001Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain	p.L1001V	ENST00000343526.4	37	c.3001	CCDS5847.1	7	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157602	0.78114	.	.	ENSG00000122779	ENST00000343526;ENST00000452999;ENST00000536822;ENST00000415680	T;T	0.20463	2.07;2.07	5.85	5.85	0.93711	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.46619	0.1402	M	0.64404	1.975	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.87578	0.995;0.998	T	0.10451	-1.0629	10	0.39692	T	0.17	-15.0901	19.7588	0.96306	0.0:1.0:0.0:0.0	.	1001;967	O15164;O15164-2	TIF1A_HUMAN;.	V	1001;393;912;967	ENSP00000340507:L1001V;ENSP00000390829:L967V	ENSP00000340507:L1001V	L	+	1	2	TRIM24	137920084	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.924000	0.48876	2.761000	0.94854	0.650000	0.86243	CTA	TRIM24	-	superfamily_Bromodomain,smart_Bromodomain	ENSG00000122779		0.313	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM24	HGNC	protein_coding	OTTHUMT00000341814.1	45	0.00	0	C	NM_015905		138269544	138269544	+1	no_errors	ENST00000343526	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	1.000	G
TRBV29-1	28558	genome.wustl.edu	37	7	142448444	142448444	+	RNA	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:142448444C>G	ENST00000422143.2	+	0	105									T cell receptor beta variable 29-1																		GAACTAGGCTCTGTGTTCAGT	0.507																																						dbGAP											0													102.0	101.0	102.0					7																	142448444		1948	4146	6094	-	-	-			0			L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448444C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S13C	ENST00000422143.2	37	c.38		7																																																																																			TRBV29-1	-	NULL	ENSG00000232869		0.507	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRBV29-1	HGNC	TR_V_gene	OTTHUMT00000352510.1	56	0.00	0	C	NG_001333		142448444	142448444	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000422143	ensembl	human	known	69_37n	missense	54	25.00	18	SNP	0.019	G
TRIOBP	11078	genome.wustl.edu	37	22	38122318	38122318	+	Missense_Mutation	SNP	C	C	T	rs560619122		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr22:38122318C>T	ENST00000406386.3	+	7	4010	c.3755C>T	c.(3754-3756)tCc>tTc	p.S1252F		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1252					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TCTGGGGGCTCCCGGGGCTCA	0.716													C|||	1	0.000199681	0.0	0.0	5008	,	,		12887	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													19.0	25.0	23.0					22																	38122318		1884	4061	5945	-	-	-	SO:0001583	missense	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3755C>T	22.37:g.38122318C>T	ENSP00000384312:p.Ser1252Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S1252F	ENST00000406386.3	37	c.3755	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980577	0.53827	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.26810	1.71	5.38	1.86	0.25419	.	.	.	.	.	T	0.14442	0.0349	L	0.27053	0.805	0.80722	D	1	P	0.38167	0.621	B	0.30572	0.117	T	0.09751	-1.0660	9	0.72032	D	0.01	.	8.2176	0.31521	0.2766:0.6467:0.0:0.0767	.	1252	Q9H2D6	TARA_HUMAN	F	1252	ENSP00000384312:S1252F	ENSP00000384312:S1252F	S	+	2	0	TRIOBP	36452264	1.000000	0.71417	0.999000	0.59377	0.422000	0.31414	2.547000	0.45786	1.223000	0.43536	0.456000	0.33151	TCC	TRIOBP	-	NULL	ENSG00000100106		0.716	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	61	0.00	0	C			38122318	38122318	+1	no_errors	ENST00000406386	ensembl	human	known	69_37n	missense	49	12.50	7	SNP	0.938	T
TRMT112	51504	genome.wustl.edu	37	11	64084384	64084384	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:64084384G>A	ENST00000544844.1	-	4	884	c.327C>T	c.(325-327)atC>atT	p.I109I	PRDX5_ENST00000347941.4_5'Flank|PRDX5_ENST00000352435.4_5'Flank|TRMT112_ENST00000308774.2_Silent_p.I104I|TRMT112_ENST00000539854.1_3'UTR|TRMT112_ENST00000535750.1_Silent_p.I65I|PRDX5_ENST00000265462.4_5'Flank|TRMT112_ENST00000535126.1_3'UTR			Q9UI30	TR112_HUMAN	tRNA methyltransferase 11-2 homolog (S. cerevisiae)	109	TRM112.				peptidyl-glutamine methylation (GO:0018364)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protein methyltransferase activity (GO:0008276)			large_intestine(1)|upper_aerodigestive_tract(1)	2						TCCCGCGGCTGATGGGGAACA	0.547																																						dbGAP											0													70.0	77.0	75.0					11																	64084384		2201	4294	6495	-	-	-	SO:0001819	synonymous_variant	0			AF110774	CCDS8068.1, CCDS66113.1, CCDS73312.1	11q13.1	2013-07-23			ENSG00000173113	ENSG00000173113			26940	protein-coding gene	gene with protein product						11042152	Standard	NM_001286082		Approved	HSPC152, HSPC170, TRM112, TRMT11-2	uc001nzt.3	Q9UI30	OTTHUMG00000167848	ENST00000544844.1:c.327C>T	11.37:g.64084384G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R539|J3KNG5|Q3MHC7|Q8N2Z4	Silent	SNP	pfam_UPF0434/Trm112	p.I109	ENST00000544844.1	37	c.327	CCDS8068.1	11																																																																																			TRMT112	-	pfam_UPF0434/Trm112	ENSG00000173113		0.547	TRMT112-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT112	HGNC	protein_coding	OTTHUMT00000396598.2	36	0.00	0	G	NM_016404		64084384	64084384	-1	no_errors	ENST00000544844	ensembl	human	known	69_37n	silent	44	10.20	5	SNP	1.000	A
TRMT61A	115708	genome.wustl.edu	37	14	103999138	103999138	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:103999138C>T	ENST00000389749.4	+	3	658	c.551C>T	c.(550-552)tCa>tTa	p.S184L		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	184						nucleus (GO:0005634)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			skin(1)	1						GACATCCCATCACCCTGGGAG	0.697																																						dbGAP											0													17.0	22.0	21.0					14																	103999138		2030	4163	6193	-	-	-	SO:0001583	missense	0			AK097771	CCDS41994.1	14q32	2009-01-09	2009-01-09	2009-01-09		ENSG00000166166			23790	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 172"""	C14orf172		16043508	Standard	NM_152307		Approved	FLJ40452, GCD14, Gcd14p, hTRM61	uc010aws.3	Q96FX7		ENST00000389749.4:c.551C>T	14.37:g.103999138C>T	ENSP00000374399:p.Ser184Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN78|Q8N7Q9	Missense_Mutation	SNP	pfam_tRNA_MeTrfase_GCD14,pirsf_tRNA_MeTrfase_GCD14	p.S184L	ENST00000389749.4	37	c.551	CCDS41994.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.86|14.86	2.661496|2.661496	0.47572|0.47572	.|.	.|.	ENSG00000166166|ENSG00000166166	ENST00000299202|ENST00000389749;ENST00000299201	.|T	.|0.23147	.|1.92	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	.|0.118717	.|0.56097	.|D	.|0.000024	T|T	0.49847|0.49847	0.1581|0.1581	M|M	0.86953|0.86953	2.85|2.85	0.80722|0.80722	D|D	1|1	.|B	.|0.33964	.|0.434	.|P	.|0.46208	.|0.507	T|T	0.53899|0.53899	-0.8373|-0.8373	5|10	.|0.46703	.|T	.|0.11	-4.2072|-4.2072	18.5052|18.5052	0.90894|0.90894	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|184	.|Q96FX7	.|TRM61_HUMAN	Y|L	86|184	.|ENSP00000374399:S184L	.|ENSP00000299201:S184L	H|S	+|+	1|2	0|0	TRMT61A|TRMT61A	103068891|103068891	1.000000|1.000000	0.71417|0.71417	0.863000|0.863000	0.33907|0.33907	0.006000|0.006000	0.05464|0.05464	4.216000|4.216000	0.58540|0.58540	2.347000|2.347000	0.79759|0.79759	0.462000|0.462000	0.41574|0.41574	CAC|TCA	TRMT61A	-	pfam_tRNA_MeTrfase_GCD14,pirsf_tRNA_MeTrfase_GCD14	ENSG00000166166		0.697	TRMT61A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT61A	HGNC	protein_coding	OTTHUMT00000414988.1	58	0.00	0	C	NM_152307		103999138	103999138	+1	no_errors	ENST00000389749	ensembl	human	known	69_37n	missense	48	26.15	17	SNP	0.997	T
TRMU	55687	genome.wustl.edu	37	22	46742358	46742358	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr22:46742358C>T	ENST00000290846.4	+	4	735	c.395C>T	c.(394-396)tCc>tTc	p.S132F	TRMU_ENST00000424260.2_Missense_Mutation_p.S97F|TRMU_ENST00000381019.3_Missense_Mutation_p.S132F	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	132					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		GCAAGAACTTCCCTGGAAGAT	0.453																																						dbGAP											0													77.0	78.0	78.0					22																	46742358		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"""tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase """	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.395C>T	22.37:g.46742358C>T	ENSP00000290846:p.Ser132Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Missense_Mutation	SNP	pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase	p.S132F	ENST00000290846.4	37	c.395	CCDS14075.1	22	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329717	0.81690	.	.	ENSG00000100416	ENST00000290846;ENST00000381019;ENST00000424260	T;T;T	0.73258	-0.73;-0.73;-0.73	5.42	5.42	0.78866	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.83008	0.5161	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.985	D;D;D	0.81914	0.995;0.988;0.971	D	0.84445	0.0585	10	0.87932	D	0	-19.3348	18.8449	0.92202	0.0:1.0:0.0:0.0	.	132;132;132	B4DHM1;O75648-2;O75648	.;.;MTU1_HUMAN	F	132;132;97	ENSP00000290846:S132F;ENSP00000370407:S132F;ENSP00000406038:S97F	ENSP00000290846:S132F	S	+	2	0	TRMU	45121022	1.000000	0.71417	0.074000	0.20217	0.776000	0.43924	6.895000	0.75660	2.550000	0.86006	0.655000	0.94253	TCC	TRMU	-	pfam_tRNA-specific_2-thiouridylase,tigrfam_tRNA-specific_2-thiouridylase	ENSG00000100416		0.453	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMU	HGNC	protein_coding	OTTHUMT00000318042.2	28	0.00	0	C	NM_018006		46742358	46742358	+1	no_errors	ENST00000290846	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	0.980	T
TRMU	55687	genome.wustl.edu	37	22	46746201	46746201	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr22:46746201C>T	ENST00000290846.4	+	5	832	c.492C>T	c.(490-492)ctC>ctT	p.L164L	TRMU_ENST00000424260.2_Intron|TRMU_ENST00000381019.3_Silent_p.L164L	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	164					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TAAAACTCCTCCAGGCAGCTG	0.448																																						dbGAP											0													91.0	100.0	97.0					22																	46746201		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"""tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase """	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.492C>T	22.37:g.46746201C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Silent	SNP	pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase	p.L164	ENST00000290846.4	37	c.492	CCDS14075.1	22																																																																																			TRMU	-	pfam_tRNA-specific_2-thiouridylase,tigrfam_tRNA-specific_2-thiouridylase	ENSG00000100416		0.448	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMU	HGNC	protein_coding	OTTHUMT00000318042.2	78	0.00	0	C	NM_018006		46746201	46746201	+1	no_errors	ENST00000290846	ensembl	human	known	69_37n	silent	71	15.48	13	SNP	0.944	T
TRPM2	7226	genome.wustl.edu	37	21	45825917	45825917	+	Silent	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr21:45825917G>C	ENST00000397928.1	+	18	3232	c.2787G>C	c.(2785-2787)cgG>cgC	p.R929R	TRPM2_ENST00000300482.5_Silent_p.R929R|TRPM2_ENST00000397932.2_Silent_p.R929R|TRPM2_ENST00000300481.9_Silent_p.R909R|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	929					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TTGTGAAGCGGATGGTAAGGG	0.627																																						dbGAP											0													96.0	108.0	104.0					21																	45825917		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2787G>C	21.37:g.45825917G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.R929	ENST00000397928.1	37	c.2787	CCDS13710.1	21																																																																																			TRPM2	-	pfam_Ion_trans_dom	ENSG00000142185		0.627	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	HGNC	protein_coding	OTTHUMT00000098086.1	31	0.00	0	G	NM_003307		45825917	45825917	+1	no_errors	ENST00000300482	ensembl	human	known	69_37n	silent	43	23.21	13	SNP	0.997	C
TSC22D1	8848	genome.wustl.edu	37	13	45010711	45010711	+	Intron	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr13:45010711C>T	ENST00000458659.2	-	2	3403				TSC22D1_ENST00000261489.2_Silent_p.L18L|RP11-71C5.2_ENST00000426579.2_RNA|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1						negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AAAAATGTCTCAGTTGGTAAA	0.413																																						dbGAP											0													167.0	182.0	177.0					13																	45010711		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.2913-480G>A	13.37:g.45010711C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Silent	SNP	pfam_TSC-22_Dip_Bun	p.L18	ENST00000458659.2	37	c.54	CCDS31966.1	13																																																																																			TSC22D1	-	NULL	ENSG00000102804		0.413	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	TSC22D1	HGNC	protein_coding	OTTHUMT00000044743.2	24	0.00	0	C	NM_006022		45010711	45010711	-1	no_errors	ENST00000261489	ensembl	human	known	69_37n	silent	26	13.33	4	SNP	1.000	T
TSC22D1	8848	genome.wustl.edu	37	13	45010762	45010762	+	Intron	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr13:45010762C>T	ENST00000458659.2	-	2	3403				TSC22D1_ENST00000261489.2_Start_Codon_SNP_p.M1I|RP11-71C5.2_ENST00000426579.2_RNA|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1						negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ATTGGGATTTCATGCAATTGC	0.453																																						dbGAP											0													156.0	172.0	167.0					13																	45010762		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.2913-531G>A	13.37:g.45010762C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.M1I	ENST00000458659.2	37	c.3	CCDS31966.1	13	.	.	.	.	.	.	.	.	.	.	C	15.04	2.713939	0.48622	.	.	ENSG00000102804	ENST00000261489;ENST00000472477	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	T	0.56702	0.2003	.	.	.	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.56854	-0.7910	7	0.87932	D	0	.	15.8236	0.78678	0.0:1.0:0.0:0.0	.	1	Q15714-2	.	I	1	.	ENSP00000261489:M1I	M	-	3	0	TSC22D1	43908762	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.908000	0.75730	2.479000	0.83701	0.591000	0.81541	ATG	TSC22D1	-	NULL	ENSG00000102804		0.453	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	TSC22D1	HGNC	protein_coding	OTTHUMT00000044743.2	22	0.00	0	C	NM_006022		45010762	45010762	-1	no_errors	ENST00000261489	ensembl	human	known	69_37n	missense	28	17.65	6	SNP	1.000	T
CENPT	80152	genome.wustl.edu	37	16	67865146	67865146	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:67865146G>A	ENST00000562787.1	-	10	1224	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	CENPT_ENST00000564817.1_Silent_p.L226L|CENPT_ENST00000440851.2_Silent_p.L226L|CENPT_ENST00000445712.2_Silent_p.L123L|CENPT_ENST00000219172.3_Silent_p.L226L|CENPT_ENST00000562947.1_5'UTR	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	226	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GTATCTCGCAGATCCCGCAAA	0.592																																						dbGAP											0													73.0	81.0	79.0					16																	67865146		1984	4174	6158	-	-	-	SO:0001819	synonymous_variant	0			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.676C>T	16.37:g.67865146G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	NULL	p.D99N	ENST00000562787.1	37	c.295	CCDS42182.1	16																																																																																			TSNAXIP1	-	NULL	ENSG00000102904		0.592	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSNAXIP1	HGNC	protein_coding	OTTHUMT00000422020.1	34	0.00	0	G	NM_025082		67865146	67865146	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000565558	ensembl	human	known	69_37n	missense	31	13.89	5	SNP	0.950	A
TSPAN16	26526	genome.wustl.edu	37	19	11422853	11422853	+	Missense_Mutation	SNP	G	G	T	rs570587158		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:11422853G>T	ENST00000316737.1	+	6	792	c.642G>T	c.(640-642)caG>caT	p.Q214H	TSPAN16_ENST00000590327.1_Missense_Mutation_p.Q214H|CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Missense_Mutation_p.Q189H	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	214						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						CCAAGACTCAGAGCTTCACCC	0.483																																						dbGAP											0													59.0	58.0	58.0					19																	11422853		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029908	CCDS12256.1, CCDS62549.1, CCDS62550.1	19p13.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000130167	ENSG00000130167		"""Tetraspanins"""	30725	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 16"""	TM4SF16		10500248	Standard	NM_012466		Approved	TM4-B, TM-8	uc002mqv.1	Q9UKR8	OTTHUMG00000180833	ENST00000316737.1:c.642G>T	19.37:g.11422853G>T	ENSP00000319486:p.Gln214His	Somatic		WXS	Illumina GAIIx	Phase_IV	K7EN22|K7EPD8|Q8N6J7	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.Q214H	ENST00000316737.1	37	c.642	CCDS12256.1	19	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044005	0.36085	.	.	ENSG00000130167	ENST00000316737	T	0.79352	-1.26	3.42	2.34	0.29019	Tetraspanin, EC2 domain (1);	1.752490	0.03366	N	0.198187	T	0.71986	0.3405	L	0.42245	1.32	0.23449	N	0.997658	B	0.17852	0.024	B	0.20767	0.031	T	0.52902	-0.8513	10	0.25751	T	0.34	-6.6852	8.6131	0.33815	0.0:0.2358:0.7642:0.0	.	214	Q9UKR8	TSN16_HUMAN	H	214	ENSP00000319486:Q214H	ENSP00000319486:Q214H	Q	+	3	2	TSPAN16	11283853	0.995000	0.38212	0.978000	0.43139	0.502000	0.33828	1.136000	0.31467	0.974000	0.38366	0.561000	0.74099	CAG	TSPAN16	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000130167		0.483	TSPAN16-001	KNOWN	basic|CCDS	protein_coding	TSPAN16	HGNC	protein_coding	OTTHUMT00000453204.1	70	0.00	0	G	NM_012466		11422853	11422853	+1	no_errors	ENST00000316737	ensembl	human	known	69_37n	missense	64	13.51	10	SNP	0.985	T
TTC23L	153657	genome.wustl.edu	37	5	34864560	34864560	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:34864560C>A	ENST00000505624.1	+	6	658	c.555C>A	c.(553-555)ttC>ttA	p.F185L	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	185										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AAGCCTATTTCAACCTGCAGA	0.428																																						dbGAP											0													101.0	98.0	99.0					5																	34864560		1869	4112	5981	-	-	-	SO:0001583	missense	0				CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.555C>A	5.37:g.34864560C>A	ENSP00000422188:p.Phe185Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6RGS4|Q8N7R3|Q96LJ2	Missense_Mutation	SNP	NULL	p.F185L	ENST00000505624.1	37	c.555	CCDS54840.1	5	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503586	0.26949	.	.	ENSG00000205838	ENST00000505624;ENST00000535797	T	0.73258	-0.73	5.6	4.73	0.59995	.	0.571293	0.18299	N	0.145485	T	0.60983	0.2311	L	0.45581	1.43	0.24625	N	0.993658	B	0.20988	0.05	B	0.17722	0.019	T	0.43829	-0.9367	10	0.12430	T	0.62	-15.588	12.8531	0.57869	0.0:0.9205:0.0:0.0795	.	185	Q6PF05	TT23L_HUMAN	L	185	ENSP00000422188:F185L	ENSP00000425242:F185L	F	+	3	2	TTC23L	34900317	0.991000	0.36638	1.000000	0.80357	0.974000	0.67602	2.010000	0.40913	2.643000	0.89663	0.563000	0.77884	TTC	TTC23L	-	NULL	ENSG00000205838		0.428	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC23L	HGNC	protein_coding	OTTHUMT00000366819.1	63	0.00	0	C	NM_144725		34864560	34864560	+1	no_errors	ENST00000505624	ensembl	human	known	69_37n	missense	54	10.00	6	SNP	0.998	A
TTC9	23508	genome.wustl.edu	37	14	71137836	71137836	+	Silent	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr14:71137836C>G	ENST00000256367.2	+	3	976	c.633C>G	c.(631-633)ctC>ctG	p.L211L		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	211										skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		AGATGAAACTCAGCCGATGCT	0.532																																						dbGAP											0													95.0	91.0	93.0					14																	71137836		1949	4133	6082	-	-	-	SO:0001819	synonymous_variant	0			D86980	CCDS45132.1	14q24.2	2014-08-12			ENSG00000133985			"""Tetratricopeptide (TTC) repeat domain containing"""	20267	protein-coding gene	gene with protein product		610488					Standard	NM_015351		Approved	KIAA0227, TTC9A	uc001xmi.2	Q92623	OTTHUMG00000172133	ENST00000256367.2:c.633C>G	14.37:g.71137836C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WT2	Silent	SNP	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L211	ENST00000256367.2	37	c.633	CCDS45132.1	14																																																																																			TTC9	-	NULL	ENSG00000133985		0.532	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC9	HGNC	protein_coding	OTTHUMT00000417024.1	31	0.00	0	C	XM_027236		71137836	71137836	+1	no_errors	ENST00000256367	ensembl	human	known	69_37n	silent	44	25.42	15	SNP	1.000	G
TTLL3	26140	genome.wustl.edu	37	3	9854937	9854937	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:9854937G>A	ENST00000547186.1	+	4	439	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	TTLL3_ENST00000426895.4_Missense_Mutation_p.E218K|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.E169K|RP11-266J6.2_ENST00000602768.1_RNA|TTLL3_ENST00000397241.1_5'UTR|TTLL3_ENST00000427853.3_5'Flank	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	75					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CACAGAGGATGAAGATGAGGA	0.507																																						dbGAP											0													104.0	105.0	105.0					3																	9854937		2050	4197	6247	-	-	-	SO:0001583	missense	0				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.223G>A	3.37:g.9854937G>A	ENSP00000446659:p.Glu75Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.E218K	ENST00000547186.1	37	c.652		3	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713586	0.48517	.	.	ENSG00000250151;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021	ENST00000397256;ENST00000414814;ENST00000452597;ENST00000419081;ENST00000438596;ENST00000417065;ENST00000439814;ENST00000418745;ENST00000430718;ENST00000426895;ENST00000547186;ENST00000426827;ENST00000422738	T;T;T;T;T;T;T;T;T;T;T	0.42513	3.55;1.95;1.95;0.97;1.95;1.95;1.95;3.54;3.73;1.95;1.5	4.89	4.89	0.63831	.	1.086320	0.07337	U	0.880099	T	0.35740	0.0942	L	0.41356	1.27	0.80722	D	1	B	0.34103	0.437	B	0.30401	0.115	T	0.05370	-1.0889	10	0.15952	T	0.53	.	13.7228	0.62737	0.0:0.0:1.0:0.0	.	75	Q9Y4R7	TTLL3_HUMAN	K	169;75;75;75;74;75;75;75;75;218;75;75;75	ENSP00000380427:E169K;ENSP00000399782:E75K;ENSP00000414965:E74K;ENSP00000408128:E75K;ENSP00000394481:E75K;ENSP00000400462:E75K;ENSP00000402197:E75K;ENSP00000392549:E218K;ENSP00000446659:E75K;ENSP00000389904:E75K;ENSP00000412915:E75K	ENSP00000380427:E169K	E	+	1	0	ARPC4-TTLL3;TTLL3	9829937	1.000000	0.71417	0.867000	0.34043	0.761000	0.43186	3.055000	0.49916	2.688000	0.91661	0.563000	0.77884	GAA	TTLL3	-	NULL	ENSG00000214021		0.507	TTLL3-203	KNOWN	basic	protein_coding	TTLL3	HGNC	protein_coding		57	0.00	0	G	NM_001025930.2		9854937	9854937	+1	no_errors	ENST00000426895	ensembl	human	known	69_37n	missense	53	17.19	11	SNP	0.984	A
TTLL6	284076	genome.wustl.edu	37	17	46863571	46863571	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:46863571C>A	ENST00000393382.3	-	12	1857	c.1716G>T	c.(1714-1716)caG>caT	p.Q572H	TTLL6_ENST00000433608.2_Missense_Mutation_p.Q265H	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCTGTTGTTTCTGTTGCCAGC	0.552																																						dbGAP											0													391.0	364.0	373.0					17																	46863571		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1716G>T	17.37:g.46863571C>A	ENSP00000377043:p.Gln572His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.Q572H	ENST00000393382.3	37	c.1716	CCDS45724.1	17	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983276	0.53827	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.5	0.824	0.18818	.	241.026000	0.00166	U	0.000001	T	0.54822	0.1882	L	0.59436	1.845	0.09310	N	1	D;D;B	0.76494	0.999;0.999;0.113	P;P;B	0.61328	0.887;0.887;0.06	T	0.24764	-1.0151	9	0.33141	T	0.24	.	4.5852	0.12279	0.1428:0.4963:0.2784:0.0825	.	524;325;265	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	H	572;265;250;524	.	ENSP00000302547:Q265H	Q	-	3	2	TTLL6	44218570	0.000000	0.05858	0.003000	0.11579	0.107000	0.19398	0.187000	0.16998	0.330000	0.23485	0.462000	0.41574	CAG	TTLL6	-	NULL	ENSG00000170703		0.552	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TTLL6	HGNC	protein_coding	OTTHUMT00000346939.3	156	0.00	0	C	NM_173623		46863571	46863571	-1	no_errors	ENST00000393382	ensembl	human	known	69_37n	missense	169	13.33	26	SNP	0.001	A
TTN	7273	genome.wustl.edu	37	2	179560075	179560075	+	Splice_Site	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:179560075C>T	ENST00000591111.1	-	113	30543	c.30319G>A	c.(30319-30321)Gtt>Att	p.V10107I	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Splice_Site_p.V10424I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.V9180I|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTACTTACCTTTAGGAGGT	0.358																																						dbGAP											0													171.0	166.0	168.0					2																	179560075		1851	4083	5934	-	-	-	SO:0001630	splice_region_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30319+1G>A	2.37:g.179560075C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V9180I	ENST00000591111.1	37	c.27538		2	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917154	0.52546	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T	0.69561	-0.41	5.69	4.77	0.60923	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.50120	0.1597	L	0.27053	0.805	0.80722	D	1	B;B	0.15930	0.0;0.015	B;B	0.14578	0.001;0.011	T	0.39981	-0.9587	8	.	.	.	.	9.7098	0.40238	0.0:0.8982:0.0:0.1018	.	10107;10107	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	I	9180;302	ENSP00000343764:V9180I	.	V	-	1	0	TTN	179268320	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	2.443000	0.44881	1.308000	0.44962	-0.345000	0.07892	GTT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.358	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	68	0.00	0	C	NM_133378	Missense_Mutation	179560075	179560075	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	67	11.84	9	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179605520	179605520	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:179605520G>A	ENST00000591111.1	-	46	11713	c.11489C>T	c.(11488-11490)tCt>tTt	p.S3830F	TTN_ENST00000342175.6_Missense_Mutation_p.S3976F|TTN_ENST00000589042.1_Missense_Mutation_p.S4147F|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.S3784F|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S3909F			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGTTGGGAGATGGTTCCTT	0.453																																						dbGAP											0													148.0	145.0	146.0					2																	179605520		1924	4127	6051	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11489C>T	2.37:g.179605520G>A	ENSP00000465570:p.Ser3830Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S3976F	ENST00000591111.1	37	c.11927		2	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369053	0.24771	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.60672	0.22;0.18;0.17	5.36	3.54	0.40534	.	.	.	.	.	T	0.41696	0.1170	N	0.19112	0.55	0.09310	N	1	B;B;B	0.18310	0.027;0.027;0.027	B;B;B	0.18263	0.011;0.011;0.021	T	0.37337	-0.9710	9	0.87932	D	0	.	8.3872	0.32508	0.1382:0.0:0.7372:0.1246	.	3784;3909;3976	D3DPF9;E7EQE6;E7ET18	.;.;.	F	3784;3976;3909;3784	ENSP00000434586:S3784F;ENSP00000340554:S3976F;ENSP00000352154:S3909F	ENSP00000340554:S3976F	S	-	2	0	TTN	179313765	0.001000	0.12720	0.027000	0.17364	0.040000	0.13550	0.524000	0.22940	1.250000	0.43966	0.655000	0.94253	TCT	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	20	0.00	0	G	NM_133378		179605520	179605520	-1	no_errors	ENST00000342175	ensembl	human	known	69_37n	missense	25	24.24	8	SNP	0.009	A
TTN	7273	genome.wustl.edu	37	2	179612117	179612117	+	Intron	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:179612117C>T	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.D5004N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAATATAAGTCAGGGGACTTT	0.373																																						dbGAP											0													61.0	67.0	65.0					2																	179612117		2201	4298	6499	-	-	-	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5469G>A	2.37:g.179612117C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D5004N	ENST00000591111.1	37	c.15010		2	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206353	0.58343	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.56776	0.44	5.81	4.03	0.46877	.	.	.	.	.	T	0.42539	0.1207	L	0.44542	1.39	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.19451	-1.0305	9	0.27785	T	0.31	.	10.5431	0.45045	0.0:0.8429:0.0:0.1571	.	5004	Q8WZ42-6	.	N	5004;318	ENSP00000354117:D5004N	ENSP00000304714:D318N	D	-	1	0	TTN	179320362	0.683000	0.27633	0.851000	0.33527	0.920000	0.55202	0.828000	0.27435	0.808000	0.34231	0.655000	0.94253	GAC	TTN	-	NULL	ENSG00000155657		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	27	0.00	0	C	NM_133378		179612117	179612117	-1	no_errors	ENST00000360870	ensembl	human	known	69_37n	missense	34	22.73	10	SNP	0.964	T
TTN	7273	genome.wustl.edu	37	2	179612529	179612529	+	Intron	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:179612529C>G	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.Q4866H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGCTTCATTCTGAACTTGAA	0.363																																						dbGAP											0													50.0	50.0	50.0					2																	179612529		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+5321G>C	2.37:g.179612529C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q4866H	ENST00000591111.1	37	c.14598		2	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655807	0.47467	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.60171	0.21	5.95	-3.05	0.05396	.	.	.	.	.	T	0.50171	0.1600	L	0.36672	1.1	0.09310	N	1	P	0.40875	0.731	B	0.44224	0.444	T	0.50276	-0.8847	9	0.45353	T	0.12	.	13.4754	0.61306	0.0:0.5397:0.0:0.4603	.	4866	Q8WZ42-6	.	H	4866;180	ENSP00000354117:Q4866H	ENSP00000304714:Q180H	Q	-	3	2	TTN	179320774	0.000000	0.05858	0.001000	0.08648	0.154000	0.21943	-1.618000	0.02049	-0.696000	0.05098	-0.290000	0.09829	CAG	TTN	-	NULL	ENSG00000155657		0.363	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	32	0.00	0	C	NM_133378		179612529	179612529	-1	no_errors	ENST00000360870	ensembl	human	known	69_37n	missense	35	20.45	9	SNP	0.000	G
TTYH2	94015	genome.wustl.edu	37	17	72227061	72227061	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:72227061G>A	ENST00000269346.4	+	3	411	c.337G>A	c.(337-339)Gag>Aag	p.E113K	TTYH2_ENST00000529107.1_Missense_Mutation_p.E92K	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	113						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TGGAAACAGCGAGACCAACGA	0.517																																						dbGAP											0													196.0	153.0	167.0					17																	72227061		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.337G>A	17.37:g.72227061G>A	ENSP00000269346:p.Glu113Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	pfam_Tweety	p.E113K	ENST00000269346.4	37	c.337	CCDS32717.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.536703	0.96460	.	.	ENSG00000141540	ENST00000269346;ENST00000529107	T;T	0.16897	2.31;2.31	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.59700	-0.7405	10	0.87932	D	0	-34.1311	17.8392	0.88710	0.0:0.0:1.0:0.0	.	92;113	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	K	113;92	ENSP00000269346:E113K;ENSP00000433089:E92K	ENSP00000269346:E113K	E	+	1	0	TTYH2	69738656	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.295000	0.78780	2.506000	0.84524	0.655000	0.94253	GAG	TTYH2	-	pfam_Tweety	ENSG00000141540		0.517	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TTYH2	HGNC	protein_coding	OTTHUMT00000387459.1	43	0.00	0	G			72227061	72227061	+1	no_errors	ENST00000269346	ensembl	human	known	69_37n	missense	26	33.33	13	SNP	1.000	A
TXNRD1	7296	genome.wustl.edu	37	12	104720128	104720128	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:104720128A>G	ENST00000529546.1	+	9	973	c.748A>G	c.(748-750)Atg>Gtg	p.M250V	TXNRD1_ENST00000526390.1_Missense_Mutation_p.M332V|TXNRD1_ENST00000503506.2_Missense_Mutation_p.M288V|TXNRD1_ENST00000427956.1_Missense_Mutation_p.M403V|TXNRD1_ENST00000388854.3_Missense_Mutation_p.M340V|TXNRD1_ENST00000354940.6_Missense_Mutation_p.M288V|TXNRD1_ENST00000525566.1_Missense_Mutation_p.M438V|TXNRD1_ENST00000526950.1_Missense_Mutation_p.M357V|TXNRD1_ENST00000542918.1_Missense_Mutation_p.M338V|TXNRD1_ENST00000524698.1_Missense_Mutation_p.M288V|TXNRD1_ENST00000378070.4_Missense_Mutation_p.M387V|TXNRD1_ENST00000540716.1_Missense_Mutation_p.M250V|TXNRD1_ENST00000429002.2_Missense_Mutation_p.M438V|TXNRD1_ENST00000526691.1_Missense_Mutation_p.M340V|TXNRD1_ENST00000397736.2_Missense_Mutation_p.M332V			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	438					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	TTTTCAGGTGATGCTGGCAAT	0.294																																					Ovarian(139;555 1836 9186 9946 10884)	dbGAP											0													28.0	29.0	29.0					12																	104720128		1784	4062	5846	-	-	-	SO:0001583	missense	0				CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.748A>G	12.37:g.104720128A>G	ENSP00000434919:p.Met250Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.M438V	ENST00000529546.1	37	c.1312	CCDS58274.1	12	.	.	.	.	.	.	.	.	.	.	T	18.20	3.571634	0.65765	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000529751;ENST00000540716;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000397736;ENST00000427956;ENST00000526950	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63255	0.39;0.39;0.39;0.39;0.39;0.39;0.39;-0.03;0.82;-0.03;0.39;0.39;0.39;0.39;0.39;0.39	5.93	0.515	0.17013	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	N	0.02266	-0.62	0.31049	N	0.715457	B;B;B;B;B;B;B	0.09022	0.0;0.002;0.002;0.0;0.0;0.002;0.001	B;B;B;B;B;B;B	0.16289	0.0;0.008;0.0;0.003;0.005;0.008;0.015	T	0.16100	-1.0414	10	0.54805	T	0.06	-10.2943	6.389	0.21576	0.1199:0.3947:0.0:0.4854	.	338;332;438;340;288;438;403	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	V	438;438;288;340;340;288;332;250;1;250;288;338;387;332;403;357	ENSP00000434516:M438V;ENSP00000412045:M438V;ENSP00000421934:M288V;ENSP00000435929:M340V;ENSP00000373506:M340V;ENSP00000347020:M288V;ENSP00000435123:M332V;ENSP00000434919:M250V;ENSP00000432273:M1V;ENSP00000442709:M250V;ENSP00000433425:M288V;ENSP00000440978:M338V;ENSP00000367310:M387V;ENSP00000380844:M332V;ENSP00000393328:M403V;ENSP00000432812:M357V	ENSP00000347020:M288V	M	+	1	0	TXNRD1	103244258	0.009000	0.17119	0.950000	0.38849	0.974000	0.67602	0.007000	0.13174	-0.054000	0.13266	-0.294000	0.09567	ATG	TXNRD1	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Thioredoxin/glutathione_Rdtase	ENSG00000198431		0.294	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	TXNRD1	HGNC	protein_coding	OTTHUMT00000389969.1	78	0.00	0	A	NM_003330		104720128	104720128	+1	no_errors	ENST00000429002	ensembl	human	known	69_37n	missense	69	11.54	9	SNP	0.287	G
UBBP4	23666	genome.wustl.edu	37	17	21731553	21731553	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:21731553G>A	ENST00000578713.1	+	2	632	c.628G>A	c.(628-630)Gac>Aac	p.D210N	UBBP4_ENST00000584755.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CACTCTTTCTGACTACAGCAT	0.527																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.628G>A	17.37:g.21731553G>A	ENSP00000464265:p.Asp210Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.D210N	ENST00000578713.1	37	c.628		17																																																																																			UBBP4	-	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	ENSG00000263563		0.527	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	UBBP4	HGNC	protein_coding	OTTHUMT00000444589.2	45	0.00	0	G			21731553	21731553	+1	no_errors	ENST00000578713	ensembl	human	putative	69_37n	missense	38	28.30	15	SNP	1.000	A
UBR2	23304	genome.wustl.edu	37	6	42626034	42626034	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:42626034G>C	ENST00000372899.1	+	28	3297	c.3039G>C	c.(3037-3039)gaG>gaC	p.E1013D	UBR2_ENST00000372901.1_Missense_Mutation_p.E1013D|UBR2_ENST00000372883.3_Missense_Mutation_p.E517D	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1013					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CCGTGGCAGAGACAGAAGGAA	0.323																																						dbGAP											0													55.0	62.0	60.0					6																	42626034		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.3039G>C	6.37:g.42626034G>C	ENSP00000361990:p.Glu1013Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.E1013D	ENST00000372899.1	37	c.3039	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	G	6.612	0.481339	0.12581	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.53206	0.63;0.63;0.63	5.8	0.272	0.15645	.	0.230661	0.46145	D	0.000304	T	0.12220	0.0297	L	0.33485	1.01	0.32136	N	0.586146	B;B	0.18310	0.027;0.002	B;B	0.17979	0.02;0.003	T	0.19811	-1.0294	10	0.16420	T	0.52	-5.2501	6.5581	0.22471	0.3422:0.0:0.5423:0.1155	.	1013;1013	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	D	1013;1013;517	ENSP00000361990:E1013D;ENSP00000361992:E1013D;ENSP00000361974:E517D	ENSP00000361974:E517D	E	+	3	2	UBR2	42734012	1.000000	0.71417	0.993000	0.49108	0.679000	0.39708	1.062000	0.30555	0.076000	0.16826	-0.244000	0.11960	GAG	UBR2	-	NULL	ENSG00000024048		0.323	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	35	0.00	0	G	NM_015255		42626034	42626034	+1	no_errors	ENST00000372899	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	0.419	C
UBR4	23352	genome.wustl.edu	37	1	19454188	19454188	+	Missense_Mutation	SNP	G	G	C	rs375636621		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:19454188G>C	ENST00000375254.3	-	63	9184	c.9157C>G	c.(9157-9159)Ctg>Gtg	p.L3053V	UBR4_ENST00000375226.2_Missense_Mutation_p.L3029V|UBR4_ENST00000375267.2_Missense_Mutation_p.L3053V|UBR4_ENST00000375217.2_Missense_Mutation_p.L3046V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3053					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATTACTACCAGATGGACTTCA	0.483																																						dbGAP											0													173.0	166.0	168.0					1																	19454188		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.9157C>G	1.37:g.19454188G>C	ENSP00000364403:p.Leu3053Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.L3053V	ENST00000375254.3	37	c.9157	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955459	0.53293	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.39056	1.1;1.1;1.15;1.13	5.72	1.19	0.21007	.	0.000000	0.64402	D	0.000001	T	0.52693	0.1750	M	0.63843	1.955	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.49466	-0.8937	10	0.59425	D	0.04	.	8.144	0.31100	0.4737:0.0:0.5263:0.0	.	3053	Q5T4S7	UBR4_HUMAN	V	3053;3053;3046;3029;661;1739	ENSP00000364403:L3053V;ENSP00000364416:L3053V;ENSP00000364365:L3046V;ENSP00000364374:L3029V	ENSP00000364365:L3046V	L	-	1	2	UBR4	19326775	0.979000	0.34478	0.523000	0.27875	0.993000	0.82548	1.117000	0.31234	0.184000	0.20083	0.591000	0.81541	CTG	UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.483	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	37	0.00	0	G	NM_020765		19454188	19454188	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	missense	29	14.71	5	SNP	0.923	C
UCHL3	7347	genome.wustl.edu	37	13	76141388	76141388	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr13:76141388C>A	ENST00000377595.3	+	5	396	c.366C>A	c.(364-366)ttC>ttA	p.F122L	RP11-29G8.3_ENST00000563635.1_RNA	NM_001270952.1|NM_006002.4	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	122					protein catabolic process (GO:0030163)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		TGAAAAAATTCCTGGAGGAAT	0.383																																						dbGAP											0													106.0	110.0	109.0					13																	76141388		2203	4300	6503	-	-	-	SO:0001583	missense	0			M30496	CCDS9453.1, CCDS73586.1	13q21.33	2008-02-05			ENSG00000118939	ENSG00000118939	3.2.1.15		12515	protein-coding gene	gene with protein product		603090				2530630	Standard	NM_001270952		Approved		uc001vjq.4	P15374	OTTHUMG00000017090	ENST00000377595.3:c.366C>A	13.37:g.76141388C>A	ENSP00000366819:p.Phe122Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R970|Q5TBK8|Q6IBE9	Missense_Mutation	SNP	pfam_Peptidase_C12,prints_Peptidase_C12	p.F122L	ENST00000377595.3	37	c.366	CCDS9453.1	13	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377668	0.61735	.	.	ENSG00000118939	ENST00000377595;ENST00000377589;ENST00000419068	T;T	0.57107	0.42;0.42	6.17	4.46	0.54185	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	L	0.41632	1.29	0.58432	D	0.999999	P	0.52842	0.956	P	0.49528	0.614	T	0.49224	-0.8962	10	0.52906	T	0.07	-13.7809	10.2545	0.43388	0.0:0.8002:0.0:0.1998	.	122	P15374	UCHL3_HUMAN	L	122;79;56	ENSP00000366819:F122L;ENSP00000398189:F56L	ENSP00000366813:F79L	F	+	3	2	UCHL3	75039389	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.704000	0.37857	0.948000	0.37687	-0.140000	0.14226	TTC	UCHL3	-	pfam_Peptidase_C12	ENSG00000118939		0.383	UCHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCHL3	HGNC	protein_coding	OTTHUMT00000045292.2	71	0.00	0	C	NM_006002		76141388	76141388	+1	no_errors	ENST00000377595	ensembl	human	known	69_37n	missense	42	25.00	14	SNP	1.000	A
UGT3A2	167127	genome.wustl.edu	37	5	36049116	36049116	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:36049116G>A	ENST00000282507.3	-	4	819	c.718C>T	c.(718-720)Ctt>Ttt	p.L240F	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.L206F|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	240					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCAGTAGAAGATGAGACAAA	0.438																																						dbGAP											0													146.0	146.0	146.0					5																	36049116		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.718C>T	5.37:g.36049116G>A	ENSP00000282507:p.Leu240Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L240F	ENST00000282507.3	37	c.718	CCDS3914.1	5	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656985	0.47467	.	.	ENSG00000168671	ENST00000282507;ENST00000513300	T;T	0.64260	-0.09;-0.09	3.45	2.53	0.30540	.	0.000000	0.64402	D	0.000012	T	0.81758	0.4890	M	0.92367	3.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.85130	0.0974	10	0.72032	D	0.01	.	12.0028	0.53241	0.0:0.1778:0.8222:0.0	.	206;240	E9PFK7;Q3SY77	.;UD3A2_HUMAN	F	240;206	ENSP00000282507:L240F;ENSP00000427404:L206F	ENSP00000282507:L240F	L	-	1	0	UGT3A2	36084873	1.000000	0.71417	0.461000	0.27105	0.469000	0.32828	3.784000	0.55416	0.971000	0.38288	0.655000	0.94253	CTT	UGT3A2	-	pfam_UDP_glucos_trans	ENSG00000168671		0.438	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	HGNC	protein_coding	OTTHUMT00000253771.2	64	0.00	0	G	NM_174914		36049116	36049116	-1	no_errors	ENST00000282507	ensembl	human	known	69_37n	missense	80	25.93	28	SNP	0.529	A
UNC80	285175	genome.wustl.edu	37	2	210798713	210798713	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:210798713G>A	ENST00000439458.1	+	38	6044	c.5964G>A	c.(5962-5964)gtG>gtA	p.V1988V	UNC80_ENST00000272845.6_Silent_p.V1983V	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	1988					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						AGCTCCTGGTGACCGCTTCAA	0.433																																						dbGAP											0													100.0	105.0	104.0					2																	210798713		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.5964G>A	2.37:g.210798713G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Silent	SNP	NULL	p.V1988	ENST00000439458.1	37	c.5964	CCDS46504.1	2																																																																																			UNC80	-	NULL	ENSG00000144406		0.433	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	HGNC	protein_coding		36	0.00	0	G	NM_182587		210798713	210798713	+1	no_errors	ENST00000439458	ensembl	human	known	69_37n	silent	33	25.00	11	SNP	1.000	A
UQCR10	29796	genome.wustl.edu	37	22	30163496	30163496	+	Missense_Mutation	SNP	G	G	A	rs374152934		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr22:30163496G>A	ENST00000330029.6	+	1	139	c.109G>A	c.(109-111)Gat>Aat	p.D37N	UQCR10_ENST00000401406.3_Missense_Mutation_p.D37N|ZMAT5_ENST00000397781.3_5'Flank|ZMAT5_ENST00000344318.3_5'Flank	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	37					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						GCGCGCCTTCGATCAAGGCGC	0.607																																						dbGAP											0													41.0	47.0	45.0					22																	30163496		2005	4164	6169	-	-	-	SO:0001583	missense	0			AB028598	CCDS46680.1, CCDS46681.1	22q12.2	2011-07-04			ENSG00000184076	ENSG00000184076		"""Mitochondrial respiratory chain complex / Complex III"""	30863	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa"", ""complex III subunit 9"""	610843				11042152	Standard	NM_013387		Approved	HSPC051, UCRC, QCR9, UCCR7.2	uc003agq.1	Q9UDW1	OTTHUMG00000151283	ENST00000330029.6:c.109G>A	22.37:g.30163496G>A	ENSP00000332887:p.Asp37Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MCM5|Q9T2V6	Missense_Mutation	SNP	pfam_Ubiquinol_cyt_c_Rdtase_QCR9,superfamily_Ubiquinol_cyt_c_Rdtase_QCR9	p.D37N	ENST00000330029.6	37	c.109	CCDS46680.1	22	.	.	.	.	.	.	.	.	.	.	G	36	5.644019	0.96704	.	.	ENSG00000184076	ENST00000330029;ENST00000401406;ENST00000406782	T;T	0.66638	-0.22;-0.22	5.73	5.73	0.89815	.	.	.	.	.	T	0.81819	0.4903	.	.	.	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.87578	0.977;0.998	T	0.82512	-0.0420	8	0.54805	T	0.06	-6.6779	15.4576	0.75327	0.0:0.0:1.0:0.0	.	37;37	Q9UDW1;Q9UDW1-2	QCR9_HUMAN;.	N	37	ENSP00000332887:D37N;ENSP00000384962:D37N	ENSP00000332887:D37N	D	+	1	0	UQCR10	28493496	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.642000	0.83385	2.720000	0.93068	0.558000	0.71614	GAT	UQCR10	-	pfam_Ubiquinol_cyt_c_Rdtase_QCR9,superfamily_Ubiquinol_cyt_c_Rdtase_QCR9	ENSG00000184076		0.607	UQCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCR10	HGNC	protein_coding	OTTHUMT00000322081.1	26	0.00	0	G	NM_013387		30163496	30163496	+1	no_errors	ENST00000330029	ensembl	human	known	69_37n	missense	22	31.25	10	SNP	1.000	A
USH2A	7399	genome.wustl.edu	37	1	215963505	215963505	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:215963505C>T	ENST00000307340.3	-	51	10464	c.10078G>A	c.(10078-10080)Gag>Aag	p.E3360K	USH2A_ENST00000366943.2_Missense_Mutation_p.E3360K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3360					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGTTCAGTCTCACAGCATTTT	0.383										HNSCC(13;0.011)																												dbGAP											0													132.0	126.0	128.0					1																	215963505		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10078G>A	1.37:g.215963505C>T	ENSP00000305941:p.Glu3360Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.E3360K	ENST00000307340.3	37	c.10078	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691001	0.48097	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12672	2.66;2.66	5.76	3.88	0.44766	Fibronectin, type III (2);	0.485715	0.16886	N	0.195497	T	0.14700	0.0355	L	0.59912	1.85	0.28034	N	0.934009	B	0.24721	0.11	B	0.16722	0.016	T	0.10543	-1.0625	10	0.27082	T	0.32	.	11.8085	0.52169	0.0:0.8104:0.1232:0.0665	.	3360	O75445	USH2A_HUMAN	K	3360	ENSP00000305941:E3360K;ENSP00000355910:E3360K	ENSP00000305941:E3360K	E	-	1	0	USH2A	214030128	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.365000	0.52335	0.765000	0.33221	0.655000	0.94253	GAG	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000042781		0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	41	0.00	0	C	NM_007123		215963505	215963505	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	26	53.57	30	SNP	1.000	T
USP29	57663	genome.wustl.edu	37	19	57641328	57641328	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:57641328G>C	ENST00000254181.4	+	4	1739	c.1285G>C	c.(1285-1287)Gag>Cag	p.E429Q	USP29_ENST00000598197.1_Missense_Mutation_p.E429Q	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	429	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCTAATTTTGAGTTTGAATT	0.408																																						dbGAP											0													153.0	140.0	144.0					19																	57641328		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1285G>C	19.37:g.57641328G>C	ENSP00000254181:p.Glu429Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E429Q	ENST00000254181.4	37	c.1285	CCDS33124.1	19	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739296	0.49045	.	.	ENSG00000131864	ENST00000254181	T	0.30714	1.52	2.5	2.5	0.30297	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.296062	0.22581	U	0.058201	T	0.38612	0.1047	L	0.28694	0.88	0.25228	N	0.989852	D	0.89917	1.0	D	0.75020	0.985	T	0.07868	-1.0750	10	0.42905	T	0.14	-5.019	11.1274	0.48325	0.0:0.0:1.0:0.0	.	429	Q9HBJ7	UBP29_HUMAN	Q	429	ENSP00000254181:E429Q	ENSP00000254181:E429Q	E	+	1	0	USP29	62333140	1.000000	0.71417	0.986000	0.45419	0.775000	0.43874	4.000000	0.57039	1.670000	0.50864	0.591000	0.81541	GAG	USP29	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000131864		0.408	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP29	HGNC	protein_coding	OTTHUMT00000465075.1	37	0.00	0	G			57641328	57641328	+1	no_errors	ENST00000254181	ensembl	human	known	69_37n	missense	32	13.51	5	SNP	0.993	C
USP4	7375	genome.wustl.edu	37	3	49348123	49348123	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:49348123G>C	ENST00000265560.4	-	8	930	c.884C>G	c.(883-885)tCt>tGt	p.S295C	USP4_ENST00000488520.1_5'UTR|USP4_ENST00000351842.4_Missense_Mutation_p.S248C	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	295					negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTGTATATGAGAGGATGGTGG	0.453																																						dbGAP											0													159.0	137.0	145.0					3																	49348123		2203	4300	6503	-	-	-	SO:0001583	missense	0			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.884C>G	3.37:g.49348123G>C	ENSP00000265560:p.Ser295Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.S295C	ENST00000265560.4	37	c.884	CCDS2793.1	3	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945248	0.73672	.	.	ENSG00000114316	ENST00000351842;ENST00000265560	T;T	0.24350	1.86;2.04	5.43	5.43	0.79202	.	0.776656	0.12440	N	0.468748	T	0.26448	0.0646	N	0.14661	0.345	0.80722	D	1	D;P;P	0.52996	0.957;0.928;0.928	P;P;P	0.50754	0.649;0.566;0.566	T	0.05225	-1.0898	10	0.41790	T	0.15	-4.4521	15.9582	0.79902	0.0:0.0:1.0:0.0	.	248;295;295	Q13107-2;Q13107;Q08AK7	.;UBP4_HUMAN;.	C	248;295	ENSP00000341028:S248C;ENSP00000265560:S295C	ENSP00000265560:S295C	S	-	2	0	USP4	49323127	1.000000	0.71417	0.811000	0.32455	0.876000	0.50452	3.507000	0.53371	2.547000	0.85894	0.491000	0.48974	TCT	USP4	-	NULL	ENSG00000114316		0.453	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP4	HGNC	protein_coding	OTTHUMT00000346069.1	37	0.00	0	G	NM_199443		49348123	49348123	-1	no_errors	ENST00000265560	ensembl	human	known	69_37n	missense	50	13.79	8	SNP	0.997	C
USP45	85015	genome.wustl.edu	37	6	99887703	99887703	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:99887703C>T	ENST00000327681.6	-	16	2634	c.2102G>A	c.(2101-2103)aGa>aAa	p.R701K	USP45_ENST00000392738.2_Missense_Mutation_p.R381K|USP45_ENST00000500704.2_Missense_Mutation_p.R701K|USP45_ENST00000539675.1_5'UTR|USP45_ENST00000369233.2_Missense_Mutation_p.R653K	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	701	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		ATCTACATGTCTGTTTACTTT	0.294																																						dbGAP											0													67.0	67.0	67.0					6																	99887703		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.2102G>A	6.37:g.99887703C>T	ENSP00000333376:p.Arg701Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.R701K	ENST00000327681.6	37	c.2102	CCDS34501.1	6	.	.	.	.	.	.	.	.	.	.	C	31	5.074158	0.94000	.	.	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000369233	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.64	5.64	0.86602	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.048907	0.85682	N	0.000000	T	0.26304	0.0642	N	0.16833	0.445	0.80722	D	1	D;D	0.89917	1.0;0.98	D;P	0.91635	0.999;0.885	T	0.02713	-1.1120	10	0.07990	T	0.79	.	19.7075	0.96079	0.0:1.0:0.0:0.0	.	701;381	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	K	381;701;701;653	ENSP00000376495:R381K;ENSP00000424372:R701K;ENSP00000333376:R701K;ENSP00000358236:R653K	ENSP00000333376:R701K	R	-	2	0	USP45	99994424	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.675000	0.68123	2.643000	0.89663	0.655000	0.94253	AGA	USP45	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000123552		0.294	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP45	HGNC	protein_coding	OTTHUMT00000041609.2	48	0.00	0	C	NM_032929		99887703	99887703	-1	no_errors	ENST00000327681	ensembl	human	known	69_37n	missense	21	41.67	15	SNP	1.000	T
USP47	55031	genome.wustl.edu	37	11	11895388	11895388	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:11895388G>C	ENST00000399455.2	+	2	201	c.81G>C	c.(79-81)atG>atC	p.M27I	USP47_ENST00000339865.5_Intron|USP47_ENST00000527733.1_Intron|USP47_ENST00000539466.1_Intron	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	27					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTGATGAAATGAAGAAGAAAT	0.274																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.81G>C	11.37:g.11895388G>C	ENSP00000382382:p.Met27Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.M27I	ENST00000399455.2	37	c.81		11	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157164	0.38119	.	.	ENSG00000170242	ENST00000399455;ENST00000535588	T	0.41758	0.99	5.25	5.25	0.73442	.	0.053677	0.85682	D	0.000000	T	0.53318	0.1789	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41574	-0.9501	7	0.26408	T	0.33	.	18.4484	0.90695	0.0:0.0:1.0:0.0	.	.	.	.	I	27	ENSP00000382382:M27I	ENSP00000382382:M27I	M	+	3	0	USP47	11851964	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.864000	0.75494	2.463000	0.83235	0.460000	0.39030	ATG	USP47	-	NULL	ENSG00000170242		0.274	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	USP47	HGNC	protein_coding	OTTHUMT00000385853.2	47	0.00	0	G	NM_017944		11895388	11895388	+1	no_errors	ENST00000399455	ensembl	human	known	69_37n	missense	34	27.66	13	SNP	1.000	C
USP6	9098	genome.wustl.edu	37	17	5039177	5039177	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr17:5039177C>G	ENST00000574788.1	+	17	2848	c.618C>G	c.(616-618)ttC>ttG	p.F206L	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.F206L|USP6_ENST00000332776.4_Missense_Mutation_p.F206L			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	206	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGGACGCATTCTGGGCACTGG	0.622			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	dbGAP		Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													100.0	86.0	91.0					17																	5039177		2203	4300	6503	-	-	-	SO:0001583	missense	0			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.618C>G	17.37:g.5039177C>G	ENSP00000460380:p.Phe206Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19	p.F206L	ENST00000574788.1	37	c.618	CCDS11069.2	17	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179503	0.57800	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.17370	2.28;2.28	0.862	0.862	0.19056	Rab-GAP/TBC domain (4);	0.044636	0.85682	D	0.000000	T	0.40171	0.1106	H	0.95004	3.61	0.80722	D	1	P	0.47677	0.899	P	0.55923	0.787	T	0.24657	-1.0154	10	0.87932	D	0	.	5.4	0.16291	0.0:1.0:0.0:0.0	.	206	P35125	UBP6_HUMAN	L	206	ENSP00000328010:F206L;ENSP00000250066:F206L	ENSP00000250066:F206L	F	+	3	2	USP6	4979901	1.000000	0.71417	0.119000	0.21687	0.121000	0.20230	0.929000	0.28844	0.132000	0.18615	0.134000	0.15878	TTC	USP6	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000129204		0.622	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP6	HGNC	protein_coding	OTTHUMT00000438990.1	106	0.00	0	C	NM_004505		5039177	5039177	+1	no_errors	ENST00000250066	ensembl	human	known	69_37n	missense	82	13.68	13	SNP	1.000	G
UTRN	7402	genome.wustl.edu	37	6	144783990	144783990	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:144783990C>T	ENST00000367545.3	+	22	3054	c.3054C>T	c.(3052-3054)ctC>ctT	p.L1018L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1018					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTCTCACACTCAGAGCTTTTG	0.338																																						dbGAP											0													77.0	87.0	84.0					6																	144783990		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3054C>T	6.37:g.144783990C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.L1018	ENST00000367545.3	37	c.3054	CCDS34547.1	6																																																																																			UTRN	-	pirsf_Dystrophin/utrophin	ENSG00000152818		0.338	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	51	0.00	0	C			144783990	144783990	+1	no_errors	ENST00000367545	ensembl	human	known	69_37n	silent	39	20.41	10	SNP	0.945	T
UXS1	80146	genome.wustl.edu	37	2	106713195	106713195	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:106713195C>T	ENST00000409501.3	-	14	1167	c.1110G>A	c.(1108-1110)ctG>ctA	p.L370L	UXS1_ENST00000283148.7_Silent_p.L375L|UXS1_ENST00000409032.1_Silent_p.L202L|UXS1_ENST00000540130.1_Silent_p.L313L			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	370					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						ACCCCAGCATCAGCTTTGCTT	0.522																																						dbGAP											0													109.0	104.0	106.0					2																	106713195		1920	4120	6040	-	-	-	SO:0001819	synonymous_variant	0			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.1110G>A	2.37:g.106713195C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NBX3|Q9H5C2	Silent	SNP	pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase	p.L375	ENST00000409501.3	37	c.1125	CCDS46378.1	2																																																																																			UXS1	-	NULL	ENSG00000115652		0.522	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	UXS1	HGNC	protein_coding	OTTHUMT00000329778.1	51	0.00	0	C	NM_025076.3		106713195	106713195	-1	no_errors	ENST00000283148	ensembl	human	known	69_37n	silent	40	20.00	10	SNP	1.000	T
VCPIP1	80124	genome.wustl.edu	37	8	67563703	67563703	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:67563703C>T	ENST00000310421.4	-	2	3045	c.2787G>A	c.(2785-2787)aaG>aaA	p.K929K	Y_RNA_ENST00000364495.1_RNA	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	929					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CCATGGTTTTCTTCATAATAC	0.308																																					NSCLC(179;265 2915 6144 43644)	dbGAP											0													78.0	76.0	77.0					8																	67563703		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2787G>A	8.37:g.67563703C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Silent	SNP	pfam_OTU,pfscan_OTU	p.K929	ENST00000310421.4	37	c.2787	CCDS6192.1	8																																																																																			VCPIP1	-	NULL	ENSG00000175073		0.308	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1	69	0.00	0	C			67563703	67563703	-1	no_errors	ENST00000310421	ensembl	human	known	69_37n	silent	52	13.33	8	SNP	1.000	T
VCX	26609	genome.wustl.edu	37	X	7811638	7811638	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:7811638G>A	ENST00000381059.3	+	3	421	c.202G>A	c.(202-204)Gag>Aag	p.E68K	VCX_ENST00000341408.4_Missense_Mutation_p.E68K	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	68					chromatin organization (GO:0006325)|ribosome assembly (GO:0042255)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				ACCTGAGGCGGAGAGCGCGCC	0.682																																						dbGAP											0													7.0	11.0	9.0					X																	7811638		1957	3668	5625	-	-	-	SO:0001583	missense	0			AF167081	CCDS14128.1	Xp22.31	2008-02-05	2003-09-12		ENSG00000182583	ENSG00000182583			12667	protein-coding gene	gene with protein product		300229	"""variable charge, X chromosome"""			10607842, 10903929	Standard	NM_013452		Approved	VCX1, VCX10R, VCX-10r, VCX-B1	uc004crz.3	Q9H320	OTTHUMG00000028608	ENST00000381059.3:c.202G>A	X.37:g.7811638G>A	ENSP00000370447:p.Glu68Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JNS5|Q4V774|Q9P0H3	Missense_Mutation	SNP	NULL	p.E68K	ENST00000381059.3	37	c.202	CCDS14128.1	X	.	.	.	.	.	.	.	.	.	.	-	9.056	0.993306	0.19043	.	.	ENSG00000182583	ENST00000381059;ENST00000341408	T;T	0.19105	2.17;2.17	0.167	0.167	0.15006	.	.	.	.	.	T	0.08802	0.0218	N	0.08118	0	0.19300	N	0.99997	B	0.12630	0.006	B	0.06405	0.002	T	0.38757	-0.9646	9	0.20046	T	0.44	.	6.1566	0.20340	4.0E-4:0.0:0.9996:0.0	.	68	Q9H320	VCX1_HUMAN	K	68	ENSP00000370447:E68K;ENSP00000344144:E68K	ENSP00000344144:E68K	E	+	1	0	VCX	7771638	0.002000	0.14202	0.022000	0.16811	0.022000	0.10575	0.381000	0.20619	0.270000	0.21984	0.274000	0.19336	GAG	VCX	-	NULL	ENSG00000182583		0.682	VCX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VCX	HGNC	protein_coding	OTTHUMT00000071474.1	34	0.00	0	G	NM_013452		7811638	7811638	+1	no_errors	ENST00000381059	ensembl	human	known	69_37n	missense	45	15.09	8	SNP	0.871	A
VEZT	55591	genome.wustl.edu	37	12	95688097	95688097	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr12:95688097G>A	ENST00000436874.1	+	10	1677	c.1572G>A	c.(1570-1572)ttG>ttA	p.L524L	VEZT_ENST00000261219.6_Silent_p.L476L|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	524					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TAGTACCTTTGAAGCAGCCTA	0.403																																						dbGAP											0													69.0	63.0	65.0					12																	95688097		1880	4114	5994	-	-	-	SO:0001819	synonymous_variant	0			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.1572G>A	12.37:g.95688097G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Silent	SNP	NULL	p.L524	ENST00000436874.1	37	c.1572	CCDS44954.1	12																																																																																			VEZT	-	NULL	ENSG00000028203		0.403	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEZT	HGNC	protein_coding	OTTHUMT00000407804.2	39	0.00	0	G	NM_017599		95688097	95688097	+1	no_errors	ENST00000436874	ensembl	human	known	69_37n	silent	49	18.33	11	SNP	0.000	A
VNN2	8875	genome.wustl.edu	37	6	133072459	133072459	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:133072459G>A	ENST00000326499.6	-	5	1149	c.1025C>T	c.(1024-1026)tCc>tTc	p.S342F	RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000526192.1_5'Flank|VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Missense_Mutation_p.S289F	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	342					cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CCCATCCCTGGAAATAAATCC	0.418																																						dbGAP											0													100.0	103.0	102.0					6																	133072459		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.1025C>T	6.37:g.133072459G>A	ENSP00000322276:p.Ser342Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.S342F	ENST00000326499.6	37	c.1025	CCDS5161.1	6	.	.	.	.	.	.	.	.	.	.	G	0.645	-0.811628	0.02798	.	.	ENSG00000112303	ENST00000326499;ENST00000525270	D;D	0.88201	-2.35;-2.35	5.62	-5.34	0.02705	.	0.369326	0.25285	N	0.031766	T	0.36110	0.0955	N	0.01209	-0.955	0.19575	N	0.999964	B	0.06786	0.001	B	0.04013	0.001	T	0.60321	-0.7286	10	0.09084	T	0.74	-5.2258	6.116	0.20127	0.4141:0.0:0.1714:0.4145	.	342	O95498	VNN2_HUMAN	F	342;289	ENSP00000322276:S342F;ENSP00000436822:S289F	ENSP00000322276:S342F	S	-	2	0	VNN2	133114152	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	-4.109000	0.00293	-0.909000	0.03852	0.650000	0.86243	TCC	VNN2	-	pirsf_Biotinidase_euk	ENSG00000112303		0.418	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VNN2	HGNC	protein_coding	OTTHUMT00000042264.2	39	0.00	0	G			133072459	133072459	-1	no_errors	ENST00000326499	ensembl	human	known	69_37n	missense	31	11.43	4	SNP	0.000	A
VPS13A	23230	genome.wustl.edu	37	9	79930212	79930212	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:79930212G>A	ENST00000360280.3	+	38	4716	c.4456G>A	c.(4456-4458)Gat>Aat	p.D1486N	VPS13A_ENST00000376634.4_Missense_Mutation_p.D1486N|VPS13A_ENST00000357409.5_Missense_Mutation_p.D1486N|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376636.3_Missense_Mutation_p.D1447N	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1486					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGACATGATGGATATAAAGTA	0.353																																						dbGAP											0													166.0	163.0	164.0					9																	79930212		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.4456G>A	9.37:g.79930212G>A	ENSP00000353422:p.Asp1486Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.D1486N	ENST00000360280.3	37	c.4456	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	33	5.236005	0.95240	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.55052	0.72;0.54;0.63;0.72	5.31	5.31	0.75309	.	0.067264	0.64402	D	0.000015	T	0.71904	0.3395	M	0.73962	2.25	0.80722	D	1	P;D;D;D	0.76494	0.866;0.999;0.999;0.999	P;P;D;D	0.70487	0.591;0.907;0.969;0.933	T	0.69394	-0.5157	10	0.30854	T	0.27	.	18.5759	0.91154	0.0:0.0:1.0:0.0	.	1447;1486;1486;1486	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	N	1486;1447;1486;1486	ENSP00000365821:D1486N;ENSP00000365823:D1447N;ENSP00000353422:D1486N;ENSP00000349985:D1486N	ENSP00000349985:D1486N	D	+	1	0	VPS13A	79120032	1.000000	0.71417	0.996000	0.52242	0.884000	0.51177	8.929000	0.92859	2.496000	0.84212	0.467000	0.42956	GAT	VPS13A	-	NULL	ENSG00000197969		0.353	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	43	0.00	0	G	NM_015186		79930212	79930212	+1	no_errors	ENST00000360280	ensembl	human	known	69_37n	missense	42	17.65	9	SNP	1.000	A
VPS13A	23230	genome.wustl.edu	37	9	79936536	79936536	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:79936536C>T	ENST00000360280.3	+	44	5964	c.5704C>T	c.(5704-5706)Cct>Tct	p.P1902S	VPS13A_ENST00000376634.4_Missense_Mutation_p.P1902S|VPS13A_ENST00000357409.5_Missense_Mutation_p.P1902S|VPS13A_ENST00000376636.3_Missense_Mutation_p.P1863S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1902					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACTCAACATTCCTATGGCAAA	0.348																																						dbGAP											0													78.0	78.0	78.0					9																	79936536		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5704C>T	9.37:g.79936536C>T	ENSP00000353422:p.Pro1902Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.P1902S	ENST00000360280.3	37	c.5704	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	C	8.243	0.807242	0.16467	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.8	2.93	0.34026	.	0.460210	0.25741	N	0.028618	T	0.22742	0.0549	L	0.34521	1.04	0.35024	D	0.758156	P;B;P;P;B	0.40083	0.702;0.059;0.577;0.57;0.36	B;B;B;B;B	0.37650	0.228;0.064;0.13;0.255;0.069	T	0.24440	-1.0160	10	0.09843	T	0.71	.	2.3701	0.04328	0.1339:0.5118:0.13:0.2243	.	154;1863;1902;1902;1902	B1ALW4;Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;.;VP13A_HUMAN;.;.	S	1902;1863;1902;1902	ENSP00000365821:P1902S;ENSP00000365823:P1863S;ENSP00000353422:P1902S;ENSP00000349985:P1902S	ENSP00000349985:P1902S	P	+	1	0	VPS13A	79126356	0.000000	0.05858	0.006000	0.13384	0.636000	0.38137	0.043000	0.13971	0.349000	0.23975	0.467000	0.42956	CCT	VPS13A	-	NULL	ENSG00000197969		0.348	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	54	0.00	0	C	NM_015186		79936536	79936536	+1	no_errors	ENST00000360280	ensembl	human	known	69_37n	missense	27	25.00	9	SNP	0.021	T
VPS13D	55187	genome.wustl.edu	37	1	12294403	12294403	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:12294403C>G	ENST00000358136.3	+	2	210	c.80C>G	c.(79-81)tCa>tGa	p.S27*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.S27*	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GACCAGCTCTCAGTTGCACTT	0.393																																						dbGAP											0													123.0	113.0	116.0					1																	12294403		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.80C>G	1.37:g.12294403C>G	ENSP00000350854:p.Ser27*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.S27*	ENST00000358136.3	37	c.80	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.541082	0.97650	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.7028	0.91627	0.0:1.0:0.0:0.0	.	.	.	.	X	27	.	ENSP00000348666:S27X	S	+	2	0	VPS13D	12216990	1.000000	0.71417	0.931000	0.37212	0.867000	0.49689	7.207000	0.77899	2.742000	0.94016	0.650000	0.86243	TCA	VPS13D	-	NULL	ENSG00000048707		0.393	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	51	0.00	0	C	NM_015378		12294403	12294403	+1	no_errors	ENST00000358136	ensembl	human	known	69_37n	nonsense	50	19.35	12	SNP	1.000	G
VPS13D	55187	genome.wustl.edu	37	1	12408918	12408918	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:12408918G>A	ENST00000358136.3	+	45	9238	c.9108G>A	c.(9106-9108)gtG>gtA	p.V3036V	VPS13D_ENST00000356315.4_Silent_p.V3011V	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTTTGCAGTGACTATGGAAG	0.433																																						dbGAP											0													116.0	109.0	111.0					1																	12408918		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9108G>A	1.37:g.12408918G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.V3036	ENST00000358136.3	37	c.9108	CCDS30588.1	1																																																																																			VPS13D	-	NULL	ENSG00000048707		0.433	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	42	0.00	0	G	NM_015378		12408918	12408918	+1	no_errors	ENST00000358136	ensembl	human	known	69_37n	silent	43	10.42	5	SNP	1.000	A
VPS51	738	genome.wustl.edu	37	11	64877359	64877359	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:64877359G>A	ENST00000279281.3	+	7	1934	c.1842G>A	c.(1840-1842)aaG>aaA	p.K614K	TM7SF2_ENST00000540748.1_5'Flank|VPS51_ENST00000527646.1_3'UTR|TM7SF2_ENST00000345348.5_5'Flank|AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000279263.7_5'Flank	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	614					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CCGTCATGAAGCGGGTGGTGG	0.657																																						dbGAP											0													29.0	32.0	31.0					11																	64877359		2199	4297	6496	-	-	-	SO:0001819	synonymous_variant	0			AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"""fat-free homolog (zebrafish)"""	615738	"""chromosome 11 open reading frame 3"", ""chromosome 11 open reading frame 2"""	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.1842G>A	11.37:g.64877359G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP	NULL	p.S112N	ENST00000279281.3	37	c.335	CCDS8093.1	11	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551149	0.27739	.	.	ENSG00000149823	ENST00000526856	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	T	0.71417	0.3337	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70128	-0.4957	4	.	.	.	-18.667	15.6121	0.76733	0.0:0.0:1.0:0.0	.	.	.	.	N	112	.	.	S	+	2	0	C11orf2	64633935	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.336000	0.79245	2.544000	0.85801	0.484000	0.47621	AGC	VPS51	-	NULL	ENSG00000149823		0.657	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS51	HGNC	protein_coding	OTTHUMT00000385217.1	60	0.00	0	G	NM_013265		64877359	64877359	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000526856	ensembl	human	putative	69_37n	missense	62	18.42	14	SNP	1.000	A
VWA2	340706	genome.wustl.edu	37	10	116014797	116014797	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr10:116014797G>A	ENST00000392982.3	+	4	501	c.251G>A	c.(250-252)aGc>aAc	p.S84N	VWA2_ENST00000603594.1_Missense_Mutation_p.S84N			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	84	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CTGGACATCAGCCCCGAGAGG	0.522																																						dbGAP											0													175.0	153.0	160.0					10																	116014797		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.251G>A	10.37:g.116014797G>A	ENSP00000376708:p.Ser84Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A	p.S84N	ENST00000392982.3	37	c.251		10	.	.	.	.	.	.	.	.	.	.	G	7.567	0.666013	0.14710	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.98044	-4.68	5.87	1.05	0.20165	von Willebrand factor, type A (3);	0.903130	0.09855	N	0.747099	D	0.94847	0.8335	L	0.41415	1.275	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	D	0.88243	0.2911	10	0.41790	T	0.15	.	10.6115	0.45425	0.2373:0.0:0.7627:0.0	.	84;84	Q5GFL6;Q5GFL6-2	VWA2_HUMAN;.	N	84	ENSP00000376708:S84N	ENSP00000298715:S84N	S	+	2	0	VWA2	116004787	0.070000	0.21116	0.063000	0.19743	0.735000	0.41995	1.135000	0.31454	0.336000	0.23639	0.655000	0.94253	AGC	VWA2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000165816		0.522	VWA2-001	KNOWN	basic|appris_principal	protein_coding	VWA2	HGNC	protein_coding	OTTHUMT00000050456.3	70	0.00	0	G	NM_198496		116014797	116014797	+1	no_errors	ENST00000392982	ensembl	human	known	69_37n	missense	100	13.04	15	SNP	0.031	A
VWA3B	200403	genome.wustl.edu	37	2	98737772	98737772	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:98737772G>C	ENST00000477737.1	+	5	757	c.553G>C	c.(553-555)Gag>Cag	p.E185Q	VWA3B_ENST00000451075.2_Missense_Mutation_p.E35Q|VWA3B_ENST00000435344.1_Missense_Mutation_p.E185Q	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	185										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						GGTTTCTCAAGAGCCTGTGAA	0.522																																						dbGAP											0													61.0	64.0	63.0					2																	98737772		1978	4174	6152	-	-	-	SO:0001583	missense	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.553G>C	2.37:g.98737772G>C	ENSP00000417955:p.Glu185Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.E185Q	ENST00000477737.1	37	c.553	CCDS42718.1	2	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835614	0.50951	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.16743	2.99;2.99;2.32	5.48	3.65	0.41850	.	0.372666	0.25912	N	0.027489	T	0.26991	0.0661	L	0.48362	1.52	0.21256	N	0.999746	P;D;P	0.59767	0.837;0.986;0.933	B;P;P	0.57009	0.335;0.811;0.541	T	0.03148	-1.1067	10	0.49607	T	0.09	.	11.7771	0.51991	0.1549:0.0:0.8451:0.0	.	35;185;185	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	Q	185;185;35	ENSP00000401959:E185Q;ENSP00000417955:E185Q;ENSP00000389463:E35Q	ENSP00000411168:E185Q	E	+	1	0	VWA3B	98104204	0.199000	0.23386	0.974000	0.42286	0.903000	0.53119	2.578000	0.46051	1.456000	0.47831	0.655000	0.94253	GAG	VWA3B	-	NULL	ENSG00000168658		0.522	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	38	0.00	0	G	NM_144992		98737772	98737772	+1	no_errors	ENST00000477737	ensembl	human	known	69_37n	missense	52	16.13	10	SNP	0.723	C
VWA5A	4013	genome.wustl.edu	37	11	124007909	124007909	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr11:124007909C>T	ENST00000456829.2	+	15	2064	c.1813C>T	c.(1813-1815)Cat>Tat	p.H605Y	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.H605Y	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	605										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GCCTCTGGCTCATAGGGACGT	0.453																																						dbGAP											0													59.0	63.0	61.0					11																	124007909		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1813C>T	11.37:g.124007909C>T	ENSP00000407726:p.His605Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.H605Y	ENST00000456829.2	37	c.1813	CCDS8444.1	11	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732305	0.30684	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.03982	3.74;3.74	5.49	0.36	0.16097	.	0.526498	0.21032	N	0.081337	T	0.05914	0.0154	L	0.57536	1.79	0.09310	N	1	P	0.44195	0.828	B	0.39299	0.296	T	0.23154	-1.0196	10	0.62326	D	0.03	-0.4681	9.5487	0.39297	0.0:0.6244:0.0:0.3756	.	605	O00534	VMA5A_HUMAN	Y	605	ENSP00000407726:H605Y;ENSP00000376504:H605Y	ENSP00000376504:H605Y	H	+	1	0	VWA5A	123513119	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.388000	0.07352	0.040000	0.15660	-0.157000	0.13467	CAT	VWA5A	-	NULL	ENSG00000110002		0.453	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5A	HGNC	protein_coding	OTTHUMT00000387273.1	37	0.00	0	C	NM_014622		124007909	124007909	+1	no_errors	ENST00000392748	ensembl	human	known	69_37n	missense	31	22.50	9	SNP	0.000	T
WAC	51322	genome.wustl.edu	37	10	28905246	28905246	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr10:28905246C>T	ENST00000354911.4	+	12	1862	c.1701C>T	c.(1699-1701)ctC>ctT	p.L567L	WAC_ENST00000375646.1_Silent_p.L415L|WAC_ENST00000347934.4_Silent_p.L464L|WAC_ENST00000375664.4_Silent_p.L522L	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	567					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GTGAAAATCTCATAAAACACG	0.413																																						dbGAP											0													104.0	90.0	95.0					10																	28905246		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1701C>T	10.37:g.28905246C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Silent	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.L567	ENST00000354911.4	37	c.1701	CCDS7159.1	10																																																																																			WAC	-	NULL	ENSG00000095787		0.413	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	WAC	HGNC	protein_coding	OTTHUMT00000047371.1	37	0.00	0	C	NM_100264		28905246	28905246	+1	no_errors	ENST00000354911	ensembl	human	known	69_37n	silent	45	21.05	12	SNP	1.000	T
WDFY2	115825	genome.wustl.edu	37	13	52158851	52158851	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr13:52158851C>G	ENST00000298125.5	+	1	208	c.28C>G	c.(28-30)Ctg>Gtg	p.L10V	RNY1P6_ENST00000384193.1_RNA	NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	10							metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		GCCCAAGCCTCTGACCCGCAA	0.706																																						dbGAP											0													52.0	55.0	54.0					13																	52158851		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20482	protein-coding gene	gene with protein product		610418	"""WD40 and FYVE domain containing 2"""				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.28C>G	13.37:g.52158851C>G	ENSP00000298125:p.Leu10Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AL86|Q96CS1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L10V	ENST00000298125.5	37	c.28	CCDS9429.1	13	.	.	.	.	.	.	.	.	.	.	C	12.21	1.871033	0.33069	.	.	ENSG00000139668	ENST00000298125	T	0.61980	0.06	5.03	3.33	0.38152	.	0.229432	0.38111	N	0.001807	T	0.44498	0.1296	N	0.22421	0.69	0.38238	D	0.941232	B	0.22276	0.067	B	0.18263	0.021	T	0.33854	-0.9852	10	0.30078	T	0.28	-8.0508	10.0498	0.42208	0.0:0.7732:0.0:0.2268	.	10	Q96P53	WDFY2_HUMAN	V	10	ENSP00000298125:L10V	ENSP00000298125:L10V	L	+	1	2	WDFY2	51056852	1.000000	0.71417	0.920000	0.36463	0.930000	0.56654	4.087000	0.57671	0.711000	0.32018	-0.749000	0.03505	CTG	WDFY2	-	NULL	ENSG00000139668		0.706	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY2	HGNC	protein_coding	OTTHUMT00000045985.3	51	0.00	0	C	NM_052950		52158851	52158851	+1	no_errors	ENST00000298125	ensembl	human	known	69_37n	missense	36	34.55	19	SNP	0.998	G
WDR27	253769	genome.wustl.edu	37	6	170052035	170052035	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:170052035G>A	ENST00000448612.1	-	14	1581	c.1472C>T	c.(1471-1473)tCa>tTa	p.S491L	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000423258.1_Missense_Mutation_p.S364L|WDR27_ENST00000333572.6_Missense_Mutation_p.S491L	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	461						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CTGTGGTGCTGACGCATAACC	0.448																																						dbGAP											0													85.0	84.0	85.0					6																	170052035		2018	4175	6193	-	-	-	SO:0001583	missense	0			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.1472C>T	6.37:g.170052035G>A	ENSP00000416289:p.Ser491Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PLM8|C9JGV0|Q5T066	Nonsense_Mutation	SNP	NULL	p.Q125*	ENST00000448612.1	37	c.373	CCDS47520.2	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.17|14.17	2.454813|2.454813	0.43634|0.43634	.|.	.|.	ENSG00000184465|ENSG00000184465	ENST00000441385|ENST00000448612;ENST00000333572;ENST00000423258	.|T;T;T	.|0.26957	.|1.77;2.01;1.7	4.59|4.59	1.59|1.59	0.23543|0.23543	.|.	.|0.743939	.|0.12018	.|N	.|0.507300	.|T	.|0.07503	.|0.0189	L|L	0.42245|0.42245	1.32|1.32	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.26577	.|0.007;0.11;0.153	.|B;B;B	.|0.29598	.|0.005;0.028;0.104	.|T	.|0.37663	.|-0.9696	.|10	.|0.39692	.|T	.|0.17	-2.3154|-2.3154	4.4597|4.4597	0.11661|0.11661	0.088:0.1518:0.6036:0.1566|0.088:0.1518:0.6036:0.1566	.|.	.|491;364;491	.|F2Z2U5;A2RRH5-2;C9JGV0	.|.;.;.	X|L	125|491;491;364	.|ENSP00000416289:S491L;ENSP00000330265:S491L;ENSP00000397869:S364L	.|ENSP00000330265:S491L	Q|S	-|-	1|2	0|0	WDR27|WDR27	169793960|169793960	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	0.982000|0.982000	0.29539|0.29539	0.063000|0.063000	0.16370|0.16370	0.563000|0.563000	0.77884|0.77884	CAG|TCA	WDR27	-	NULL	ENSG00000184465		0.448	WDR27-010	KNOWN	basic|CCDS	protein_coding	WDR27	HGNC	protein_coding	OTTHUMT00000407334.1	41	0.00	0	G	NM_182552		170052035	170052035	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000441385	ensembl	human	putative	69_37n	nonsense	37	24.49	12	SNP	0.000	A
WDR3	10885	genome.wustl.edu	37	1	118492688	118492688	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:118492688C>G	ENST00000349139.5	+	15	1728	c.1681C>G	c.(1681-1683)Caa>Gaa	p.Q561E		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	561						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CTCTCCCAATCAAAAGCTATT	0.388																																						dbGAP											0													218.0	216.0	217.0					1																	118492688		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.1681C>G	1.37:g.118492688C>G	ENSP00000308179:p.Gln561Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q561E	ENST00000349139.5	37	c.1681	CCDS898.1	1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369662	0.42003	.	.	ENSG00000065183	ENST00000349139	T	0.59772	0.24	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.235801	0.46442	D	0.000296	T	0.36082	0.0954	L	0.31845	0.965	0.80722	D	1	P	0.35124	0.485	B	0.34301	0.179	T	0.40384	-0.9566	10	0.52906	T	0.07	-8.2744	15.283	0.73801	0.0:0.8604:0.1396:0.0	.	561	Q9UNX4	WDR3_HUMAN	E	561	ENSP00000308179:Q561E	ENSP00000308179:Q561E	Q	+	1	0	WDR3	118294211	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	5.574000	0.67424	2.679000	0.91253	0.655000	0.94253	CAA	WDR3	-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000065183		0.388	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	HGNC	protein_coding	OTTHUMT00000033720.2	115	0.00	0	C	NM_006784		118492688	118492688	+1	no_errors	ENST00000349139	ensembl	human	known	69_37n	missense	140	10.76	17	SNP	1.000	G
WDR45	11152	genome.wustl.edu	37	X	48934351	48934351	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:48934351C>T	ENST00000376372.3	-	5	475	c.294G>A	c.(292-294)gaG>gaA	p.E98E	PRAF2_ENST00000376386.3_5'Flank|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000322995.8_Silent_p.E98E|WDR45_ENST00000465431.1_5'Flank|WDR45_ENST00000485908.1_Silent_p.E63E|PRAF2_ENST00000376390.4_5'Flank|WDR45_ENST00000396681.4_Silent_p.E98E|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000473974.1_Silent_p.E98E|WDR45_ENST00000376368.2_Silent_p.E99E|WDR45_ENST00000356463.3_Silent_p.E99E	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	98					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						TGAAGGTGAACTCCAGCACCA	0.617																																						dbGAP											0													76.0	58.0	64.0					X																	48934351		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.294G>A	X.37:g.48934351C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat	p.V55I	ENST00000376372.3	37	c.163	CCDS35250.1	X	.	.	.	.	.	.	.	.	.	.	C	7.936	0.741680	0.15642	.	.	ENSG00000196998	ENST00000367375	.	.	.	3.87	3.0	0.34707	.	.	.	.	.	T	0.52403	0.1732	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45848	-0.9233	4	.	.	.	-21.0115	4.9734	0.14127	0.0:0.6384:0.0:0.3616	.	.	.	.	I	55	.	.	V	-	1	0	WDR45	48821295	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.446000	0.21694	0.996000	0.38943	0.529000	0.55759	GTT	WDR45	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000196998		0.617	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR45	HGNC	protein_coding	OTTHUMT00000083418.2	52	0.00	0	C	NM_007075		48934351	48934351	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000367375	ensembl	human	novel	69_37n	missense	29	17.14	6	SNP	1.000	T
WDR49	151790	genome.wustl.edu	37	3	167293918	167293918	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr3:167293918G>A	ENST00000308378.3	-	4	579	c.274C>T	c.(274-276)Caa>Taa	p.Q92*	WDR49_ENST00000476376.1_5'Flank|WDR49_ENST00000453925.2_Nonsense_Mutation_p.Q145*|WDR49_ENST00000479765.1_Nonsense_Mutation_p.Q433*	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	92										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AGCTGGTGTTGAATATCCCAG	0.383																																						dbGAP											0													69.0	66.0	67.0					3																	167293918		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.274C>T	3.37:g.167293918G>A	ENSP00000311343:p.Gln92*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N297	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q92*	ENST00000308378.3	37	c.274	CCDS3201.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.318084	0.95682	.	.	ENSG00000174776	ENST00000308378;ENST00000479765;ENST00000453925	.	.	.	5.76	4.83	0.62350	.	0.602492	0.16688	N	0.203662	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	13.6807	0.62484	0.0:0.0:0.846:0.154	.	.	.	.	X	92;433;145	.	ENSP00000311343:Q92X	Q	-	1	0	WDR49	168776612	1.000000	0.71417	0.997000	0.53966	0.799000	0.45148	3.438000	0.52871	2.748000	0.94277	0.650000	0.86243	CAA	WDR49	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000174776		0.383	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR49	HGNC	protein_coding	OTTHUMT00000350592.3	22	0.00	0	G	NM_178824		167293918	167293918	-1	no_errors	ENST00000308378	ensembl	human	known	69_37n	nonsense	13	18.75	3	SNP	0.998	A
WDR60	55112	genome.wustl.edu	37	7	158719112	158719112	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:158719112C>T	ENST00000407559.3	+	19	2549	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	797					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GTTTGTCCTTCCACATCGCTT	0.463																																						dbGAP											0													37.0	36.0	36.0					7																	158719112		1910	4130	6040	-	-	-	SO:0001819	synonymous_variant	0				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2391C>T	7.37:g.158719112C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NW58	Missense_Mutation	SNP	NULL	p.P517S	ENST00000407559.3	37	c.1549	CCDS47757.1	7																																																																																			WDR60	-	NULL	ENSG00000126870		0.463	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR60	HGNC	protein_coding	OTTHUMT00000322668.1	58	0.00	0	C	NM_018051		158719112	158719112	+1	no_start_codon	ENST00000444851	ensembl	human	known	69_37n	missense	41	14.58	7	SNP	1.000	T
DAW1	164781	genome.wustl.edu	37	2	228767739	228767739	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:228767739C>T	ENST00000309931.2	+	7	645	c.562C>T	c.(562-564)Caa>Taa	p.Q188*	DAW1_ENST00000373666.2_Nonsense_Mutation_p.Q188*|DAW1_ENST00000545118.1_Nonsense_Mutation_p.Q173*	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	188						cilium (GO:0005929)											ATTTAACCCTCAAAGCACATT	0.368																																						dbGAP											0													127.0	121.0	123.0					2																	228767739		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.562C>T	2.37:g.228767739C>T	ENSP00000311899:p.Gln188*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZRY1|Q8N776	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q188*	ENST00000309931.2	37	c.562	CCDS2470.1	2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135945	0.77662	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000545118	.	.	.	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	15.9182	0.79539	0.0:1.0:0.0:0.0	.	.	.	.	X	188;188;173	.	ENSP00000311899:Q188X	Q	+	1	0	WDR69	228475983	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	6.674000	0.74487	2.081000	0.62600	0.306000	0.20318	CAA	WDR69	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000123977		0.368	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR69	HGNC	protein_coding	OTTHUMT00000331745.1	48	0.00	0	C	NM_178821		228767739	228767739	+1	no_errors	ENST00000309931	ensembl	human	known	69_37n	nonsense	63	18.18	14	SNP	1.000	T
WNK3	65267	genome.wustl.edu	37	X	54275292	54275292	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:54275292G>A	ENST00000375159.2	-	16	3488	c.3489C>T	c.(3487-3489)atC>atT	p.I1163I	WNK3_ENST00000375169.3_Silent_p.I1163I|WNK3_ENST00000354646.2_Silent_p.I1163I			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1163					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CACAGTGACTGATGGCTATGA	0.463																																						dbGAP											0													112.0	106.0	108.0					X																	54275292		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3489C>T	X.37:g.54275292G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I1163	ENST00000375159.2	37	c.3489	CCDS14357.1	X																																																																																			WNK3	-	NULL	ENSG00000196632		0.463	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	63	0.00	0	G	NM_020922		54275292	54275292	-1	no_errors	ENST00000354646	ensembl	human	known	69_37n	silent	55	14.06	9	SNP	0.758	A
XAB2	56949	genome.wustl.edu	37	19	7692692	7692692	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:7692692C>T	ENST00000358368.4	-	3	283	c.246G>A	c.(244-246)gtG>gtA	p.V82V	PET100_ENST00000456958.3_5'Flank|CTD-3214H19.4_ENST00000595866.1_5'Flank|XAB2_ENST00000534844.1_Silent_p.V79V|PET100_ENST00000594797.1_5'Flank|PET100_ENST00000601406.1_5'Flank	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	82					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						AGCGATGCTTCACCTGTGCCC	0.557								Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0													124.0	104.0	111.0					19																	7692692		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.246G>A	19.37:g.7692692C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V82	ENST00000358368.4	37	c.246	CCDS32892.1	19																																																																																			XAB2	-	NULL	ENSG00000076924		0.557	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XAB2	HGNC	protein_coding	OTTHUMT00000461021.1	41	0.00	0	C	NM_020196		7692692	7692692	-1	no_errors	ENST00000358368	ensembl	human	known	69_37n	silent	32	29.79	14	SNP	1.000	T
XIST	7503	genome.wustl.edu	37	X	73068515	73068515	+	lincRNA	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:73068515G>C	ENST00000429829.1	-	0	4073					NR_001564.2				X inactive specific transcript (non-protein coding)																		ACATCCCACAGAAGGTGGGAT	0.398																																						dbGAP											0													38.0	36.0	37.0					X																	73068515		876	1990	2866	-	-	-			0			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73068515G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			XIST	-	-	ENSG00000229807		0.398	XIST-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000057239.1	27	0.00	0	G	NR_001564		73068515	73068515	-1	no_errors	ENST00000429829	ensembl	human	known	69_37n	rna	31	18.42	7	SNP	0.000	C
XPO5	57510	genome.wustl.edu	37	6	43494463	43494463	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:43494463C>T	ENST00000265351.7	-	27	3153	c.2943G>A	c.(2941-2943)aaG>aaA	p.K981K	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	981					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GGTCAGCACCCTTCTTTGAAA	0.512																																						dbGAP											0													97.0	92.0	93.0					6																	43494463		2018	4184	6202	-	-	-	SO:0001819	synonymous_variant	0			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.2943G>A	6.37:g.43494463C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	NULL	p.G44R	ENST00000265351.7	37	c.130	CCDS47430.1	6	.	.	.	.	.	.	.	.	.	.	C	8.605	0.887751	0.17540	.	.	ENSG00000124571	ENST00000455285	.	.	.	5.95	1.89	0.25635	.	.	.	.	.	T	0.40040	0.1101	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22487	-1.0215	4	.	.	.	-12.3893	7.5527	0.27806	0.0:0.3151:0.0:0.6849	.	.	.	.	K	85	.	.	R	-	2	0	XPO5	43602441	1.000000	0.71417	0.985000	0.45067	0.059000	0.15707	0.757000	0.26433	0.069000	0.16605	-0.793000	0.03317	AGG	XPO5	-	NULL	ENSG00000124571		0.512	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO5	HGNC	protein_coding	OTTHUMT00000040657.2	42	0.00	0	C	NM_020750		43494463	43494463	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000486936	ensembl	human	known	69_37n	missense	34	27.66	13	SNP	0.999	T
ZAP70	7535	genome.wustl.edu	37	2	98340802	98340802	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr2:98340802G>A	ENST00000264972.5	+	3	518	c.303G>A	c.(301-303)ccG>ccA	p.P101P	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	101	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TGCGCAAGCCGTGCAACCGGC	0.697																																						dbGAP											0													7.0	8.0	8.0					2																	98340802		2061	4095	6156	-	-	-	SO:0001819	synonymous_variant	0			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.303G>A	2.37:g.98340802G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_SH2,pfscan_Prot_kinase_cat_dom	p.P101	ENST00000264972.5	37	c.303	CCDS33254.1	2																																																																																			ZAP70	-	pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2	ENSG00000115085		0.697	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	HGNC	protein_coding	OTTHUMT00000329278.1	18	0.00	0	G			98340802	98340802	+1	no_errors	ENST00000264972	ensembl	human	known	69_37n	silent	19	17.39	4	SNP	0.529	A
ZBTB22	9278	genome.wustl.edu	37	6	33283446	33283446	+	Silent	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:33283446G>C	ENST00000431845.2	-	2	1399	c.1248C>G	c.(1246-1248)ctC>ctG	p.L416L	ZBTB22_ENST00000418724.1_Silent_p.L416L|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCAAGGGAAGGAGCGGTCGAG	0.612																																						dbGAP											0													124.0	135.0	131.0					6																	33283446		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1248C>G	6.37:g.33283446G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L416	ENST00000431845.2	37	c.1248	CCDS4775.1	6																																																																																			ZBTB22	-	NULL	ENSG00000236104		0.612	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB22	HGNC	protein_coding	OTTHUMT00000076183.2	60	0.00	0	G			33283446	33283446	-1	no_errors	ENST00000418724	ensembl	human	known	69_37n	silent	61	25.61	21	SNP	0.992	C
ZBTB22	9278	genome.wustl.edu	37	6	33284490	33284490	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:33284490G>A	ENST00000431845.2	-	2	355	c.204C>T	c.(202-204)ttC>ttT	p.F68F	ZBTB22_ENST00000418724.1_Silent_p.F68F|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|DAXX_ENST00000477162.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	68	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GATGAGCCCGGAACTCCCGGC	0.602																																						dbGAP											0													71.0	73.0	72.0					6																	33284490		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.204C>T	6.37:g.33284490G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.F68	ENST00000431845.2	37	c.204	CCDS4775.1	6																																																																																			ZBTB22	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000236104		0.602	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB22	HGNC	protein_coding	OTTHUMT00000076183.2	49	0.00	0	G			33284490	33284490	-1	no_errors	ENST00000418724	ensembl	human	known	69_37n	silent	37	13.95	6	SNP	1.000	A
ZBTB46	140685	genome.wustl.edu	37	20	62421190	62421190	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:62421190G>A	ENST00000245663.4	-	2	1071	c.921C>T	c.(919-921)ttC>ttT	p.F307F	ZBTB46_ENST00000302995.2_Silent_p.F307F|ZBTB46_ENST00000480766.1_5'UTR|ZBTB46_ENST00000395104.1_Silent_p.F307F	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	307					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTCGGCTGCTGAACGGCCACC	0.647																																						dbGAP											0													64.0	70.0	68.0					20																	62421190		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.921C>T	20.37:g.62421190G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.F307	ENST00000245663.4	37	c.921	CCDS13538.1	20																																																																																			ZBTB46	-	NULL	ENSG00000130584		0.647	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB46	HGNC	protein_coding	OTTHUMT00000080232.2	40	0.00	0	G	NM_025224		62421190	62421190	-1	no_errors	ENST00000245663	ensembl	human	known	69_37n	silent	41	20.75	11	SNP	0.999	A
ZBTB6	10773	genome.wustl.edu	37	9	125673814	125673814	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr9:125673814C>A	ENST00000373659.3	-	2	626	c.538G>T	c.(538-540)Gaa>Taa	p.E180*		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						CTTTCCTCTTCTTTAACATGG	0.353																																						dbGAP											0													57.0	57.0	57.0					9																	125673814		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16764	protein-coding gene	gene with protein product		605976	"""zinc finger protein 482"""	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.538G>T	9.37:g.125673814C>A	ENSP00000362763:p.Glu180*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8N6	Nonsense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E180*	ENST00000373659.3	37	c.538	CCDS6846.1	9	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136869	0.77662	.	.	ENSG00000186130	ENST00000373659	.	.	.	5.96	4.07	0.47477	.	0.565066	0.19077	N	0.123350	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	8.7689	0.34719	0.0:0.4871:0.4262:0.0867	.	.	.	.	X	180	.	ENSP00000362763:E180X	E	-	1	0	ZBTB6	124713635	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.847000	0.27696	1.510000	0.48803	0.655000	0.94253	GAA	ZBTB6	-	NULL	ENSG00000186130		0.353	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB6	HGNC	protein_coding	OTTHUMT00000053962.1	29	0.00	0	C	NM_006626		125673814	125673814	-1	no_errors	ENST00000373659	ensembl	human	known	69_37n	nonsense	28	22.22	8	SNP	0.999	A
ZFHX4	79776	genome.wustl.edu	37	8	77619987	77619987	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr8:77619987G>A	ENST00000521891.2	+	3	3245	c.2797G>A	c.(2797-2799)Gag>Aag	p.E933K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E907K|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E907K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E907K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	907					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)			TCTCCCTGAAGAGGAATGGAG	0.498										HNSCC(33;0.089)																												dbGAP											0													74.0	72.0	73.0					8																	77619987		2198	4299	6497	-	-	-	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.2797G>A	8.37:g.77619987G>A	ENSP00000430497:p.Glu933Lys	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.E933K	ENST00000521891.2	37	c.2797	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511207	0.44660	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.28	5.28	0.74379	.	0.000000	0.43579	U	0.000557	T	0.67449	0.2894	M	0.64997	1.995	0.80722	D	1	D;D;D;P	0.71674	0.997;0.998;0.998;0.846	D;D;D;P	0.78314	0.98;0.991;0.991;0.467	T	0.66646	-0.5871	10	0.51188	T	0.08	.	19.1042	0.93287	0.0:0.0:1.0:0.0	.	907;907;933;907	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	K	933;933;907;907;907	ENSP00000430497:E933K;ENSP00000399605:E907K;ENSP00000050961:E907K;ENSP00000430848:E907K	ENSP00000050961:E907K	E	+	1	0	ZFHX4	77782542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.761000	0.94854	0.585000	0.79938	GAG	ZFHX4	-	NULL	ENSG00000091656		0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	27	0.00	0	G	NM_024721		77619987	77619987	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	missense	34	12.82	5	SNP	1.000	A
ZFP36	7538	genome.wustl.edu	37	19	39898893	39898893	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:39898893C>T	ENST00000248673.3	+	2	593	c.535C>T	c.(535-537)Cct>Tct	p.P179S	ZFP36_ENST00000597629.1_Missense_Mutation_p.P185S|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	179					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGCCACCCTCCTGTGCTTCG	0.677																																					NSCLC(67;1164 1324 12056 21056 30097)	dbGAP											0													58.0	70.0	66.0					19																	39898893		2203	4299	6502	-	-	-	SO:0001583	missense	0			M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.535C>T	19.37:g.39898893C>T	ENSP00000248673:p.Pro179Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA54	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.P179S	ENST00000248673.3	37	c.535		19	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968846	0.53614	.	.	ENSG00000128016	ENST00000248673	T	0.23348	1.91	4.35	4.35	0.52113	.	0.295756	0.31601	N	0.007366	T	0.15739	0.0379	N	0.22421	0.69	0.27937	N	0.93764	B	0.31318	0.319	B	0.28916	0.096	T	0.10474	-1.0628	10	0.09338	T	0.73	-3.0222	14.448	0.67364	0.0:1.0:0.0:0.0	.	179	P26651	TTP_HUMAN	S	179	ENSP00000248673:P179S	ENSP00000248673:P179S	P	+	1	0	ZFP36	44590733	0.096000	0.21769	0.713000	0.30519	0.790000	0.44656	3.384000	0.52478	2.280000	0.76307	0.442000	0.29010	CCT	ZFP36	-	NULL	ENSG00000128016		0.677	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	ZFP36	HGNC	protein_coding		69	0.00	0	C			39898893	39898893	+1	no_errors	ENST00000248673	ensembl	human	known	69_37n	missense	95	10.38	11	SNP	0.902	T
ZNF112	7771	genome.wustl.edu	37	19	44832181	44832181	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:44832181G>A	ENST00000337401.4	-	5	2235	c.2147C>T	c.(2146-2148)tCt>tTt	p.S716F	ZNF112_ENST00000354340.4_Missense_Mutation_p.S710F|ZNF112_ENST00000536500.1_Missense_Mutation_p.S733F	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	716					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TCTTTCTCCAGAATGGACACT	0.453																																						dbGAP											0													164.0	144.0	151.0					19																	44832181		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2147C>T	19.37:g.44832181G>A	ENSP00000337081:p.Ser716Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU53|Q9HCA7	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.S733F	ENST00000337401.4	37	c.2198	CCDS54276.1	19	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586357	0.46110	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.19806	2.12;2.12;2.12	5.1	5.1	0.69264	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.272597	0.19504	N	0.112672	T	0.39963	0.1098	M	0.83603	2.65	0.30912	N	0.729003	P;P;P	0.49559	0.877;0.925;0.877	B;P;B	0.48141	0.365;0.568;0.365	T	0.53408	-0.8443	10	0.87932	D	0	-9.4041	17.6377	0.88128	0.0:0.0:1.0:0.0	.	715;733;716	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	F	716;716;710;733;715	ENSP00000337081:S716F;ENSP00000346305:S710F;ENSP00000441990:S733F	ENSP00000253426:S715F	S	-	2	0	ZNF285	49524021	0.981000	0.34729	0.998000	0.56505	0.968000	0.65278	2.429000	0.44758	2.534000	0.85438	0.655000	0.94253	TCT	ZFP112	-	pfscan_Znf_C2H2	ENSG00000062370		0.453	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFP112	HGNC	protein_coding	OTTHUMT00000460744.1	74	0.00	0	G	NM_013380		44832181	44832181	-1	no_errors	ENST00000536500	ensembl	human	known	69_37n	missense	73	17.05	15	SNP	1.000	A
ZFP62	643836	genome.wustl.edu	37	5	180276354	180276354	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:180276354C>G	ENST00000502412.1	-	2	2198	c.2141G>C	c.(2140-2142)aGa>aCa	p.R714T	ZFP62_ENST00000359141.6_Missense_Mutation_p.R654T|ZFP62_ENST00000512132.1_Missense_Mutation_p.R681T|ZFP62_ENST00000506377.1_Intron	NM_001172638.1	NP_001166109.1	Q8NB50	ZFP62_HUMAN	ZFP62 zinc finger protein	714					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(2)|pancreas(1)	4	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATAAGAGTTCTGCTTGAGAA	0.443																																						dbGAP											0													109.0	104.0	106.0					5																	180276354		692	1591	2283	-	-	-	SO:0001583	missense	0			AK002206	CCDS47357.1, CCDS47357.2, CCDS54955.1	5q35.3	2013-01-08	2012-11-27			ENSG00000196670		"""Zinc fingers, C2H2-type"""	23241	protein-coding gene	gene with protein product		610281	"""zinc finger protein 62 homolog (mouse)"", ""zinc finger protein 62"""			8808410	Standard	NM_152283		Approved	FLJ34231, ZET, ZNF755	uc011dhf.2	Q8NB50		ENST00000502412.1:c.2141G>C	5.37:g.180276354C>G	ENSP00000423820:p.Arg714Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIP6|B4E0N3|B5MDX6|B7ZVZ2|B9EIP6|E9PFT8|J3QTA9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R681T	ENST00000502412.1	37	c.2042	CCDS54955.1	5	.	.	.	.	.	.	.	.	.	.	.	12.75	2.031218	0.35797	.	.	ENSG00000196670	ENST00000512132;ENST00000359141;ENST00000502412;ENST00000405851	T;T;T	0.14640	2.5;2.49;2.5	4.45	4.45	0.53987	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05593	0.0147	N	0.03224	-0.385	0.22745	N	0.99878	P	0.39216	0.664	B	0.32928	0.155	T	0.14227	-1.0480	9	0.48119	T	0.1	.	8.5968	0.33721	0.0:0.899:0.0:0.101	.	714	Q8NB50	ZFP62_HUMAN	T	681;654;714;312	ENSP00000426193:R681T;ENSP00000352053:R654T;ENSP00000423820:R714T	ENSP00000352053:R654T	R	-	2	0	ZFP62	180208960	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	0.370000	0.20433	2.746000	0.94184	0.563000	0.77884	AGA	ZFP62	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196670		0.443	ZFP62-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ZFP62	HGNC	protein_coding	OTTHUMT00000368386.2	39	0.00	0	C	NM_152283		180276354	180276354	-1	no_errors	ENST00000512132	ensembl	human	known	69_37n	missense	61	11.59	8	SNP	0.997	G
ZFP64	55734	genome.wustl.edu	37	20	50713636	50713636	+	Intron	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:50713636C>G	ENST00000361387.2	-	7	1037				ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Intron|ZFP64_ENST00000477786.1_Intron	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TTTCTCTTCTCAGCAGCTGGC	0.473																																						dbGAP											0													35.0	35.0	35.0					20																	50713636		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000361387.2:c.976+275G>C	20.37:g.50713636C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NTS7|Q9NVH4	Nonstop_Mutation	SNP	NULL	p.*132S	ENST00000361387.2	37	c.395	CCDS13439.1	20	.	.	.	.	.	.	.	.	.	.	C	0.914	-0.718144	0.03182	.	.	ENSG00000020256	ENST00000395979	.	.	.	2.53	-0.723	0.11181	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.419	0.04443	0.2353:0.4776:0.0:0.2871	.	.	.	.	S	132	.	.	X	-	2	2	ZFP64	50147043	0.000000	0.05858	0.003000	0.11579	0.278000	0.26855	-0.002000	0.12924	-0.112000	0.11979	0.603000	0.83216	TGA	ZFP64	-	NULL	ENSG00000020256		0.473	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP64	HGNC	protein_coding	OTTHUMT00000079743.2	74	0.00	0	C	NM_018197		50713636	50713636	-1	no_errors	ENST00000395979	ensembl	human	putative	69_37n	nonstop	92	11.43	12	SNP	0.003	G
ZKSCAN4	387032	genome.wustl.edu	37	6	28219392	28219392	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:28219392C>G	ENST00000377294.2	-	1	610	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	ZKSCAN4_ENST00000423974.2_Intron	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	123	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ACCACCACCTCCTCCCCGCTC	0.597																																						dbGAP											0													27.0	30.0	29.0					6																	28219392		2202	4278	6480	-	-	-	SO:0001583	missense	0			AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.367G>C	6.37:g.28219392C>G	ENSP00000366509:p.Glu123Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE32|Q5U7L4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E123Q	ENST00000377294.2	37	c.367	CCDS4647.1	6	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804420	0.70682	.	.	ENSG00000187626	ENST00000377294;ENST00000356796	T	0.08720	3.06	4.45	4.45	0.53987	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.17066	0.0410	M	0.75615	2.305	0.80722	D	1	D	0.69078	0.997	D	0.64776	0.929	T	0.00379	-1.1777	9	0.48119	T	0.1	.	13.2218	0.59892	0.0:0.8383:0.1617:0.0	.	123	Q969J2	ZKSC4_HUMAN	Q	123;71	ENSP00000366509:E123Q	ENSP00000349249:E71Q	E	-	1	0	ZKSCAN4	28327371	0.138000	0.22547	1.000000	0.80357	0.995000	0.86356	0.136000	0.15974	2.388000	0.81334	0.655000	0.94253	GAG	ZKSCAN4	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000187626		0.597	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN4	HGNC	protein_coding	OTTHUMT00000040179.1	34	0.00	0	C	NM_019110		28219392	28219392	-1	no_errors	ENST00000377294	ensembl	human	known	69_37n	missense	52	10.34	6	SNP	1.000	G
ZKSCAN5	23660	genome.wustl.edu	37	7	99103904	99103904	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:99103904G>A	ENST00000394170.2	+	2	488	c.237G>A	c.(235-237)ctG>ctA	p.L79L	ZKSCAN5_ENST00000326775.5_Silent_p.L79L|ZKSCAN5_ENST00000451158.1_Silent_p.L79L	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	79	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GTGAGTGGCTGAGGCCCGAGC	0.602																																						dbGAP											0													69.0	72.0	71.0					7																	99103904		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.237G>A	7.37:g.99103904G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D280|D6W5S9	Silent	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.L79	ENST00000394170.2	37	c.237	CCDS5667.1	7																																																																																			ZKSCAN5	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000196652		0.602	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN5	HGNC	protein_coding	OTTHUMT00000345597.1	40	0.00	0	G	NM_014569		99103904	99103904	+1	no_errors	ENST00000326775	ensembl	human	known	69_37n	silent	53	10.17	6	SNP	1.000	A
ZMYM4	9202	genome.wustl.edu	37	1	35863124	35863124	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:35863124G>A	ENST00000314607.6	+	20	3257	c.3177G>A	c.(3175-3177)gaG>gaA	p.E1059E	ZMYM4_ENST00000373297.2_Silent_p.E970E	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1059					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)				AAGATGAAGAGAAGAAGACTC	0.353																																						dbGAP											0													66.0	66.0	66.0					1																	35863124		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.3177G>A	1.37:g.35863124G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	pfam_DUF3504,pfam_Znf_MYM,smart_TRASH	p.E718K	ENST00000314607.6	37	c.2152	CCDS389.1	1	.	.	.	.	.	.	.	.	.	.	G	8.755	0.922313	0.17982	.	.	ENSG00000146463	ENST00000457946	T	0.23348	1.91	5.6	0.593	0.17478	.	0.052741	0.64402	D	0.000001	T	0.28566	0.0707	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.02567	-1.1140	7	0.30854	T	0.27	-13.9009	9.741	0.40418	0.3308:0.0:0.6692:0.0	.	.	.	.	K	718	ENSP00000400506:E718K	ENSP00000400506:E718K	E	+	1	0	ZMYM4	35635711	0.998000	0.40836	0.999000	0.59377	0.990000	0.78478	0.289000	0.18957	0.065000	0.16485	0.460000	0.39030	GAA	ZMYM4	-	NULL	ENSG00000146463		0.353	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM4	HGNC	protein_coding	OTTHUMT00000012207.3	29	0.00	0	G	NM_005095		35863124	35863124	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000457946	ensembl	human	known	69_37n	missense	18	18.18	4	SNP	1.000	A
ZNF12	7559	genome.wustl.edu	37	7	6731349	6731349	+	Silent	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr7:6731349G>C	ENST00000405858.1	-	5	1765	c.1224C>G	c.(1222-1224)ctC>ctG	p.L408L	AC073343.2_ENST00000577401.1_RNA|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Silent_p.L370L|ZNF12_ENST00000404360.1_Silent_p.L334L	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	408					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TACACTTGTAGAGTTTCACAC	0.453																																						dbGAP											0													75.0	75.0	75.0					7																	6731349		2069	4245	6314	-	-	-	SO:0001819	synonymous_variant	0			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1224C>G	7.37:g.6731349G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L408	ENST00000405858.1	37	c.1224	CCDS47538.1	7																																																																																			ZNF12	-	pfscan_Znf_C2H2	ENSG00000164631		0.453	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF12	HGNC	protein_coding	OTTHUMT00000324373.2	21	0.00	0	G	NM_016265		6731349	6731349	-1	no_errors	ENST00000405858	ensembl	human	known	69_37n	silent	26	23.53	8	SNP	0.034	C
ZNF133	7692	genome.wustl.edu	37	20	18297346	18297346	+	Silent	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr20:18297346C>G	ENST00000316358.4	+	4	1948	c.1851C>G	c.(1849-1851)ctC>ctG	p.L617L	ZNF133_ENST00000535822.1_Silent_p.L522L|ZNF133_ENST00000396026.3_Silent_p.L620L|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_Silent_p.L617L|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000377671.3_Silent_p.L616L|ZNF133_ENST00000402618.2_Silent_p.L554L|ZNF133_ENST00000538547.1_Silent_p.L522L	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	617					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GCTTCAGCCTCAAGTCTCACC	0.567																																						dbGAP											0													63.0	61.0	62.0					20																	18297346		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1851C>G	20.37:g.18297346C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L620	ENST00000316358.4	37	c.1860		20																																																																																			ZNF133	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000125846		0.567	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	ZNF133	HGNC	protein_coding	OTTHUMT00000127616.1	27	0.00	0	C	NM_003434		18297346	18297346	+1	no_errors	ENST00000396026	ensembl	human	known	69_37n	silent	31	26.19	11	SNP	0.099	G
ZNF14	7561	genome.wustl.edu	37	19	19822265	19822265	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:19822265G>A	ENST00000344099.3	-	4	1963	c.1825C>T	c.(1825-1827)Cac>Tac	p.H609Y		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	609					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)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCTCCAGTGTGAGACCTTTCA	0.413																																						dbGAP											0													80.0	79.0	79.0					19																	19822265		2203	4300	6503	-	-	-	SO:0001583	missense	0			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1825C>T	19.37:g.19822265G>A	ENSP00000340514:p.His609Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGA4|Q9ULZ5	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.H609Y	ENST00000344099.3	37	c.1825	CCDS12409.1	19	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712393	0.89112	.	.	ENSG00000105708	ENST00000344099	T	0.67523	-0.27	1.8	1.8	0.24995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83454	0.5258	M	0.92833	3.35	0.28507	N	0.913747	D	0.89917	1.0	D	0.91635	0.999	T	0.74163	-0.3754	9	0.87932	D	0	.	9.1514	0.36965	0.0:0.0:1.0:0.0	.	609	P17017	ZNF14_HUMAN	Y	609	ENSP00000340514:H609Y	ENSP00000340514:H609Y	H	-	1	0	ZNF14	19683265	1.000000	0.71417	0.723000	0.30687	0.992000	0.81027	4.903000	0.63272	0.977000	0.38444	0.467000	0.42956	CAC	ZNF14	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105708		0.413	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF14	HGNC	protein_coding	OTTHUMT00000460775.1	44	0.00	0	G	NM_021030		19822265	19822265	-1	no_errors	ENST00000344099	ensembl	human	known	69_37n	missense	34	19.05	8	SNP	1.000	A
ZNF157	7712	genome.wustl.edu	37	X	47272097	47272097	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chrX:47272097C>G	ENST00000377073.3	+	4	711	c.625C>G	c.(625-627)Cag>Gag	p.Q209E		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	209					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CATTGCTCATCAGAAAACTCA	0.433																																						dbGAP											0													65.0	59.0	61.0					X																	47272097		2203	4300	6503	-	-	-	SO:0001583	missense	0			U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.625C>G	X.37:g.47272097C>G	ENSP00000366273:p.Gln209Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96LE9	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.Q209E	ENST00000377073.3	37	c.625	CCDS14278.1	X	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917019	0.33815	.	.	ENSG00000147117	ENST00000377073	T	0.17854	2.25	2.9	1.95	0.26073	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11410	0.0278	L	0.31804	0.96	0.20196	N	0.999928	B	0.12630	0.006	B	0.09377	0.004	T	0.26883	-1.0090	9	0.62326	D	0.03	.	4.4876	0.11797	0.0:0.6395:0.0:0.3605	.	209	P51786	ZN157_HUMAN	E	209	ENSP00000366273:Q209E	ENSP00000366273:Q209E	Q	+	1	0	ZNF157	47157041	0.000000	0.05858	0.614000	0.29051	0.995000	0.86356	0.041000	0.13927	0.536000	0.28733	0.538000	0.68166	CAG	ZNF157	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000147117		0.433	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF157	HGNC	protein_coding	OTTHUMT00000056415.1	41	0.00	0	C	NM_003446		47272097	47272097	+1	no_errors	ENST00000377073	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	0.934	G
ZNF177	7730	genome.wustl.edu	37	19	9491524	9491524	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:9491524G>C	ENST00000589262.1	+	6	583	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000343499.4_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000434737.2_Missense_Mutation_p.E173Q|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000602856.1_3'UTR	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	173					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						TCACATTGGAGAGAAAACTCT	0.373																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.517G>C	19.37:g.9491524G>C	ENSP00000468531:p.Glu173Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY57|E9PDG0|I3L0I4|Q96ER2	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.E173Q	ENST00000589262.1	37	c.517	CCDS54214.1	19	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681249	0.47886	.	.	ENSG00000188629	ENST00000434737	T	0.35236	1.32	2.7	0.338	0.15974	.	.	.	.	.	T	0.49423	0.1556	M	0.85099	2.735	.	.	.	.	.	.	.	.	.	T	0.58340	-0.7653	6	0.72032	D	0.01	.	5.8013	0.18416	0.1241:0.1979:0.678:0.0	.	.	.	.	Q	173	ENSP00000415070:E173Q	ENSP00000415070:E173Q	E	+	1	0	ZNF177	9352524	0.992000	0.36948	0.002000	0.10522	0.050000	0.14768	2.011000	0.40922	0.174000	0.19809	0.563000	0.77884	GAG	ZNF177	-	pfscan_Znf_C2H2	ENSG00000188629		0.373	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF177	HGNC	protein_coding	OTTHUMT00000449028.1	41	0.00	0	G	NM_003451		9491524	9491524	+1	no_errors	ENST00000434737	ensembl	human	known	69_37n	missense	45	10.00	5	SNP	1.000	C
ZNF17	7565	genome.wustl.edu	37	19	57931119	57931119	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:57931119G>C	ENST00000601808.1	+	3	472	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	ZNF17_ENST00000595206.1_3'UTR|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Missense_Mutation_p.E99Q|ZNF17_ENST00000307658.7_Missense_Mutation_p.E89Q	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	87	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		CCAGCCCTGTGAGACATGTAG	0.517																																					Melanoma(149;1637 1853 29914 42869 44988)	dbGAP											0													110.0	108.0	108.0					19																	57931119		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.259G>C	19.37:g.57931119G>C	ENSP00000471905:p.Glu87Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	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.E87Q	ENST00000601808.1	37	c.259	CCDS42636.1	19	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602399	0.28534	.	.	ENSG00000186272	ENST00000307658	.	.	.	2.0	0.905	0.19307	Zinc finger, C2H2-like (1);Krueppel-associated box (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.48169	0.1485	L	0.55481	1.735	0.09310	N	1	D;B	0.65815	0.995;0.215	P;B	0.60949	0.881;0.102	T	0.34229	-0.9837	8	0.23302	T	0.38	.	6.4924	0.22123	0.0:0.3043:0.6957:0.0	.	89;87	P17021-2;P17021	.;ZNF17_HUMAN	Q	87	.	ENSP00000302455:E87Q	E	+	1	0	ZNF17	62622931	0.141000	0.22595	0.119000	0.21687	0.137000	0.21094	0.849000	0.27723	0.384000	0.24942	0.650000	0.86243	GAG	ZNF17	-	smart_Znf_C2H2-like,pfscan_Krueppel-associated_box	ENSG00000186272		0.517	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF17	HGNC	protein_coding	OTTHUMT00000466384.1	46	0.00	0	G	NM_006959		57931119	57931119	+1	no_errors	ENST00000307658	ensembl	human	known	69_37n	missense	56	23.29	17	SNP	0.132	C
ZNF192P1	651302	genome.wustl.edu	37	6	28134543	28134543	+	RNA	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:28134543G>A	ENST00000440790.2	+	0	646					NR_103448.1				zinc finger protein 192 pseudogene 1																		ACACTGGAGAGAAACCCTATG	0.458																																						dbGAP											0													80.0	80.0	80.0					6																	28134543		692	1591	2283	-	-	-			0					6p22.1	2012-10-05	2011-08-31	2011-08-31	ENSG00000226314	ENSG00000226314			18777	pseudogene	pseudogene	"""zinc finger protein 389, pseudogene"""		"""zinc finger protein 389"""	ZNF389			Standard	NR_103448		Approved	dJ265C24.4, ZNF389P	uc021yrq.2		OTTHUMG00000014513		6.37:g.28134543G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000440790.2	37	NULL		6																																																																																			ZNF192P1	-	-	ENSG00000226314		0.458	ZNF192P1-001	KNOWN	basic	processed_transcript	ZNF192P1	HGNC	pseudogene	OTTHUMT00000040181.1	33	0.00	0	G			28134543	28134543	+1	no_errors	ENST00000440790	ensembl	human	known	69_37n	rna	33	19.51	8	SNP	1.000	A
ZNF226	7769	genome.wustl.edu	37	19	44680727	44680727	+	Nonsense_Mutation	SNP	C	C	T	rs201558157		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:44680727C>T	ENST00000590089.1	+	7	1679	c.1312C>T	c.(1312-1314)Cag>Tag	p.Q438*	ZNF226_ENST00000454662.2_Nonsense_Mutation_p.Q438*|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Nonsense_Mutation_p.Q438*			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	438					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)						Prostate(69;0.0352)|all_neural(266;0.202)				TTACATTCATCAGAGAGTCCA	0.433																																					Pancreas(115;581 1665 13228 19278 50070)	dbGAP											0													62.0	67.0	65.0					19																	44680727		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.1312C>T	19.37:g.44680727C>T	ENSP00000465121:p.Gln438*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WWE6|Q96TE6|Q9NS44	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q438*	ENST00000590089.1	37	c.1312	CCDS46102.1	19	.	.	.	.	.	.	.	.	.	.	C	37	5.986969	0.97173	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	.	.	.	3.92	3.92	0.45320	.	0.597682	0.12743	N	0.442896	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	15.2191	0.73296	0.0:1.0:0.0:0.0	.	.	.	.	X	438	.	ENSP00000336719:Q438X	Q	+	1	0	ZNF226	49372567	0.013000	0.17824	1.000000	0.80357	0.998000	0.95712	1.552000	0.36244	2.201000	0.70794	0.655000	0.94253	CAG	ZNF226	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167380		0.433	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF226	HGNC	protein_coding	OTTHUMT00000460712.1	33	0.00	0	C			44680727	44680727	+1	no_errors	ENST00000337433	ensembl	human	known	69_37n	nonsense	22	33.33	11	SNP	1.000	T
ZNF229	7772	genome.wustl.edu	37	19	44934557	44934557	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:44934557G>A	ENST00000588931.1	-	6	832	c.399C>T	c.(397-399)ttC>ttT	p.F133F	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Silent_p.F127F|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	133					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(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CATCTTCTGAGAACTGGAAGT	0.493																																						dbGAP											0													105.0	100.0	102.0					19																	44934557		1879	4100	5979	-	-	-	SO:0001819	synonymous_variant	0			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.399C>T	19.37:g.44934557G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWN3|Q59FV2|Q86WL9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F133	ENST00000588931.1	37	c.399	CCDS42574.1	19																																																																																			ZNF229	-	NULL	ENSG00000167383		0.493	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF229	HGNC	protein_coding	OTTHUMT00000460833.1	105	0.00	0	G	NM_014518		44934557	44934557	-1	no_errors	ENST00000588931	ensembl	human	known	69_37n	silent	86	25.86	30	SNP	0.000	A
ZNF318	24149	genome.wustl.edu	37	6	43305941	43305941	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:43305941G>A	ENST00000361428.2	-	10	5872	c.5795C>T	c.(5794-5796)aCt>aTt	p.T1932I	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1932					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GTACCTAGAAGTTCTAGAAGC	0.403																																						dbGAP											0													82.0	84.0	83.0					6																	43305941		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5795C>T	6.37:g.43305941G>A	ENSP00000354964:p.Thr1932Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	smart_Znf_U1	p.T1932I	ENST00000361428.2	37	c.5795	CCDS4895.2	6	.	.	.	.	.	.	.	.	.	.	G	5.924	0.354542	0.11239	.	.	ENSG00000171467	ENST00000361428	T	0.15017	2.46	5.7	3.73	0.42828	.	0.480154	0.19548	N	0.111638	T	0.03263	0.0095	L	0.27053	0.805	0.09310	N	0.999998	B	0.10296	0.003	B	0.10450	0.005	T	0.34104	-0.9842	10	0.35671	T	0.21	0.0192	2.9251	0.05781	0.1036:0.1746:0.5422:0.1796	.	1932	Q5VUA4	ZN318_HUMAN	I	1932	ENSP00000354964:T1932I	ENSP00000354964:T1932I	T	-	2	0	ZNF318	43413919	0.000000	0.05858	0.046000	0.18839	0.146000	0.21551	0.321000	0.19558	1.316000	0.45131	0.650000	0.86243	ACT	ZNF318	-	NULL	ENSG00000171467		0.403	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	28	0.00	0	G	NM_014345		43305941	43305941	-1	no_errors	ENST00000361428	ensembl	human	known	69_37n	missense	21	19.23	5	SNP	0.004	A
ZNF292	23036	genome.wustl.edu	37	6	87928331	87928331	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:87928331G>A	ENST00000369577.3	+	4	463	c.420G>A	c.(418-420)ctG>ctA	p.L140L	ZNF292_ENST00000369578.2_3'UTR|ZNF292_ENST00000339907.4_Silent_p.L140L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	140						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATGAAAAGCTGATGGAGAATG	0.363																																						dbGAP											0													30.0	28.0	29.0					6																	87928331		1811	4073	5884	-	-	-	SO:0001819	synonymous_variant	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.420G>A	6.37:g.87928331G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L140	ENST00000369577.3	37	c.420	CCDS47457.1	6																																																																																			ZNF292	-	NULL	ENSG00000188994		0.363	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	50	0.00	0	G	NM_015021		87928331	87928331	+1	no_errors	ENST00000369577	ensembl	human	known	69_37n	silent	29	30.95	13	SNP	1.000	A
ZNF407	55628	genome.wustl.edu	37	18	72343220	72343220	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr18:72343220A>T	ENST00000299687.5	+	1	245	c.245A>T	c.(244-246)gAg>gTg	p.E82V	ZNF407_ENST00000309902.6_Missense_Mutation_p.E82V|ZNF407_ENST00000582337.1_Missense_Mutation_p.E82V|ZNF407_ENST00000577538.1_Missense_Mutation_p.E82V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	82					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GATGAGGCAGAGCCCCTTAAA	0.413																																						dbGAP											0													111.0	109.0	109.0					18																	72343220		1855	4093	5948	-	-	-	SO:0001583	missense	0			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.245A>T	18.37:g.72343220A>T	ENSP00000299687:p.Glu82Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.E82V	ENST00000299687.5	37	c.245	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320891	0.60634	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.10477	2.87;3.27	4.97	3.72	0.42706	.	0.461988	0.13266	U	0.400907	T	0.08714	0.0216	L	0.32530	0.975	0.09310	N	1	P;B;B	0.35348	0.496;0.077;0.046	B;B;B	0.34242	0.178;0.066;0.03	T	0.30416	-0.9979	10	0.42905	T	0.14	.	7.087	0.25264	0.7058:0.15:0.0:0.1443	.	82;82;82	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	V	82	ENSP00000299687:E82V;ENSP00000310359:E82V	ENSP00000299687:E82V	E	+	2	0	ZNF407	70472208	0.023000	0.18921	0.019000	0.16419	0.241000	0.25554	0.479000	0.22228	0.215000	0.20761	-0.216000	0.12614	GAG	ZNF407	-	NULL	ENSG00000215421		0.413	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1	25	0.00	0	A	NM_017757		72343220	72343220	+1	no_errors	ENST00000299687	ensembl	human	known	69_37n	missense	31	11.43	4	SNP	0.000	T
ZNF414	84330	genome.wustl.edu	37	19	8575609	8575609	+	IGR	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:8575609G>A	ENST00000255616.8	-	0	1178				ZNF414_ENST00000393927.4_Missense_Mutation_p.S380L	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(2)	2						CTCCCCCTCTGACAGCAGCGG	0.682																																						dbGAP											0													47.0	53.0	51.0					19																	8575609		692	1591	2283	-	-	-	SO:0001628	intergenic_variant	0			AK074191	CCDS12205.1, CCDS54211.1	19p13.2	2008-02-05				ENSG00000133250		"""Zinc fingers, C2H2-type"""	20630	protein-coding gene	gene with protein product							Standard	NM_032370		Approved	MGC15716, Zfp414	uc002mke.4	Q96IQ9			19.37:g.8575609G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY94	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S380L	ENST00000255616.8	37	c.1139	CCDS12205.1	19	.	.	.	.	.	.	.	.	.	.	g	17.35	3.367295	0.61513	.	.	ENSG00000133250	ENST00000393927	T	0.26067	1.76	4.15	2.0	0.26442	.	0.940929	0.08460	U	0.942539	T	0.13329	0.0323	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.27673	-1.0067	10	0.44086	T	0.13	0.0033	6.9087	0.24323	0.0981:0.1771:0.7248:0.0	.	380	A8MY94	.	L	380	ENSP00000377504:S380L	ENSP00000377504:S380L	S	-	2	0	ZNF414	8481609	0.021000	0.18746	0.001000	0.08648	0.017000	0.09413	1.317000	0.33631	0.511000	0.28236	-0.323000	0.08544	TCA	ZNF414	-	NULL	ENSG00000133250		0.682	ZNF414-002	KNOWN	basic|CCDS	protein_coding	ZNF414	HGNC	protein_coding	OTTHUMT00000460199.2	42	0.00	0	G	NM_032370		8575609	8575609	-1	no_errors	ENST00000393927	ensembl	human	known	69_37n	missense	48	17.24	10	SNP	0.001	A
ZNF430	80264	genome.wustl.edu	37	19	21216270	21216270	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:21216270G>A	ENST00000261560.5	+	3	286	c.105G>A	c.(103-105)ttG>ttA	p.L35L	ZNF430_ENST00000599548.1_Silent_p.L35L|ZNF430_ENST00000595401.1_Silent_p.L35L	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AGGGGCCATTGACATTTAGGG	0.403																																						dbGAP											0													116.0	122.0	120.0					19																	21216270		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.105G>A	19.37:g.21216270G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86V70	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L35	ENST00000261560.5	37	c.105	CCDS32978.1	19																																																																																			ZNF430	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000118620		0.403	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF430	HGNC	protein_coding	OTTHUMT00000463539.1	103	0.00	0	G	NM_025189		21216270	21216270	+1	no_errors	ENST00000261560	ensembl	human	known	69_37n	silent	82	24.77	27	SNP	0.125	A
ZNF443	10224	genome.wustl.edu	37	19	12542336	12542336	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:12542336C>G	ENST00000301547.5	-	4	847	c.650G>C	c.(649-651)aGa>aCa	p.R217T	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	217					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						AGTGTGCGTTCTTTCATGCAT	0.403																																						dbGAP											0													126.0	126.0	126.0					19																	12542336		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.650G>C	19.37:g.12542336C>G	ENSP00000301547:p.Arg217Thr	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.R217T	ENST00000301547.5	37	c.650	CCDS32918.1	19	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895359	0.52121	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.25414	1.8	1.37	-1.05	0.10036	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45836	0.1362	M	0.85197	2.74	0.21822	N	0.999526	D	0.89917	1.0	D	0.81914	0.995	T	0.29427	-1.0012	9	0.59425	D	0.04	.	2.8158	0.05455	0.2143:0.4785:0.0:0.3071	.	217	Q9Y2A4	ZN443_HUMAN	T	217	ENSP00000301547:R217T	ENSP00000301547:R217T	R	-	2	0	ZNF443	12403336	0.000000	0.05858	0.015000	0.15790	0.663000	0.39108	-2.430000	0.01024	-0.213000	0.10094	0.461000	0.40582	AGA	ZNF443	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180855		0.403	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF443	HGNC	protein_coding	OTTHUMT00000344084.1	82	0.00	0	C	NM_005815		12542336	12542336	-1	no_errors	ENST00000301547	ensembl	human	known	69_37n	missense	88	15.24	16	SNP	0.527	G
ZNF432	9668	genome.wustl.edu	37	19	52538020	52538020	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:52538020G>A	ENST00000594154.1	-	5	1124	c.912C>T	c.(910-912)ctC>ctT	p.L304L	ZNF432_ENST00000221315.5_Silent_p.L304L			O94892	ZN432_HUMAN	zinc finger protein 432	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GATGTACAATGAGATTACGCT	0.418																																						dbGAP											0													110.0	104.0	106.0					19																	52538020		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.912C>T	19.37:g.52538020G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L304	ENST00000594154.1	37	c.912	CCDS12848.1	19																																																																																			ZNF432	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256087		0.418	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF432	HGNC	protein_coding	OTTHUMT00000462410.1	64	0.00	0	G	NM_014650		52538020	52538020	-1	no_errors	ENST00000221315	ensembl	human	known	69_37n	silent	49	15.52	9	SNP	0.987	A
ZNF48	197407	genome.wustl.edu	37	16	30410298	30410298	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr16:30410298G>A	ENST00000320159.2	+	2	2103	c.1727G>A	c.(1726-1728)tGt>tAt	p.C576Y	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						TGTGCAGAGTGTGGCAAGGGT	0.597																																						dbGAP											0													110.0	112.0	112.0					16																	30410298		2197	4300	6497	-	-	-	SO:0001583	missense	0			M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.1727G>A	16.37:g.30410298G>A	ENSP00000324056:p.Cys576Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C576Y	ENST00000320159.2	37	c.1727	CCDS10679.1	16	.	.	.	.	.	.	.	.	.	.	G	18.39	3.612871	0.66672	.	.	ENSG00000180035	ENST00000495929;ENST00000320159	D	0.85861	-2.04	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41396	D	0.000897	D	0.93615	0.7961	M	0.91818	3.245	0.51012	D	0.999906	D	0.89917	1.0	D	0.91635	0.999	D	0.94763	0.7938	10	0.87932	D	0	-24.9181	15.295	0.73898	0.0:0.0:1.0:0.0	.	576	Q96MX3	ZNF48_HUMAN	Y	701;576	ENSP00000324056:C576Y	ENSP00000324056:C576Y	C	+	2	0	ZNF48	30317799	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.342000	0.97044	2.556000	0.86216	0.557000	0.71058	TGT	ZNF48	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180035		0.597	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF48	HGNC	protein_coding	OTTHUMT00000255549.2	38	0.00	0	G	NM_152652		30410298	30410298	+1	no_errors	ENST00000320159	ensembl	human	known	69_37n	missense	43	10.42	5	SNP	1.000	A
ZNF496	84838	genome.wustl.edu	37	1	247464343	247464343	+	Silent	SNP	G	G	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr1:247464343G>T	ENST00000294753.4	-	9	1706	c.1242C>A	c.(1240-1242)atC>atA	p.I414I	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Silent_p.I450I	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	414					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TCCAGCGGAAGATTTTCCCAC	0.657																																						dbGAP											0													55.0	54.0	54.0					1																	247464343		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1242C>A	1.37:g.247464343G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TBS2	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.I450	ENST00000294753.4	37	c.1350	CCDS1631.1	1																																																																																			ZNF496	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000162714		0.657	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF496	HGNC	protein_coding	OTTHUMT00000098655.2	55	0.00	0	G	NM_032752		247464343	247464343	-1	no_errors	ENST00000366498	ensembl	human	known	69_37n	silent	70	18.60	16	SNP	0.981	T
ZNF497	162968	genome.wustl.edu	37	19	58868303	58868303	+	Silent	SNP	G	G	A	rs372268648		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:58868303G>A	ENST00000311044.3	-	3	887	c.699C>T	c.(697-699)ttC>ttT	p.F233F	CTD-2619J13.9_ENST00000599952.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|ZNF497_ENST00000425453.3_Silent_p.F233F|A1BG-AS1_ENST00000593374.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	233					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(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GGTGCTCCAGGAAATTGGAGT	0.687																																						dbGAP											0													13.0	14.0	14.0					19																	58868303		2201	4294	6495	-	-	-	SO:0001819	synonymous_variant	0			AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"""Zinc fingers, C2H2-type"""	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.699C>T	19.37:g.58868303G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F233	ENST00000311044.3	37	c.699	CCDS12977.1	19																																																																																			ZNF497	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000174586		0.687	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF497	HGNC	protein_coding	OTTHUMT00000466942.2	26	0.00	0	G	NM_198458		58868303	58868303	-1	no_errors	ENST00000311044	ensembl	human	known	69_37n	silent	36	18.18	8	SNP	0.001	A
ZNF521	25925	genome.wustl.edu	37	18	22806869	22806869	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr18:22806869C>T	ENST00000361524.3	-	4	1161	c.1013G>A	c.(1012-1014)tGc>tAc	p.C338Y	ZNF521_ENST00000538137.2_Missense_Mutation_p.C338Y|ZNF521_ENST00000584787.1_Missense_Mutation_p.C118Y|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	338					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCTGTGATTGCATGACTCCGG	0.532			T	PAX5	ALL																																	dbGAP		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													108.0	96.0	100.0					18																	22806869		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1013G>A	18.37:g.22806869C>T	ENSP00000354794:p.Cys338Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C338Y	ENST00000361524.3	37	c.1013	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386146	0.25031	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08634	3.07;3.08	6.17	6.17	0.99709	.	0.052576	0.85682	D	0.000000	T	0.07593	0.0191	N	0.08118	0	0.52099	D	0.999942	P	0.50819	0.939	B	0.42738	0.396	T	0.25813	-1.0121	10	0.87932	D	0	-24.9029	20.8794	0.99867	0.0:1.0:0.0:0.0	.	338	Q96K83	ZN521_HUMAN	Y	338;372;338	ENSP00000354794:C338Y;ENSP00000382352:C338Y	ENSP00000354794:C338Y	C	-	2	0	ZNF521	21060867	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	TGC	ZNF521	-	NULL	ENSG00000198795		0.532	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	48	0.00	0	C	NM_015461		22806869	22806869	-1	no_errors	ENST00000361524	ensembl	human	known	69_37n	missense	56	13.85	9	SNP	1.000	T
ZNF540	163255	genome.wustl.edu	37	19	38102737	38102737	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:38102737A>G	ENST00000592533.1	+	5	888	c.556A>G	c.(556-558)Aaa>Gaa	p.K186E	ZNF540_ENST00000316433.4_Missense_Mutation_p.K186E|ZNF540_ENST00000586792.1_3'UTR|ZNF540_ENST00000589117.1_Missense_Mutation_p.K154E|ZNF540_ENST00000343599.5_Missense_Mutation_p.K186E	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	186					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCTGATGTGAAACATGATTG	0.348																																						dbGAP											0													57.0	57.0	57.0					19																	38102737		2203	4298	6501	-	-	-	SO:0001583	missense	0			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.556A>G	19.37:g.38102737A>G	ENSP00000466274:p.Lys186Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	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.K186E	ENST00000592533.1	37	c.556	CCDS12506.1	19	.	.	.	.	.	.	.	.	.	.	A	14.05	2.420564	0.42918	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T;T	0.08896	3.05;3.04	1.93	0.831	0.18860	.	.	.	.	.	T	0.04861	0.0131	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.10296	0.003;0.002	B;B	0.12156	0.007;0.003	T	0.39292	-0.9621	9	0.62326	D	0.03	.	4.9782	0.14151	0.8205:0.0:0.1795:0.0	.	154;186	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	E	186;154	ENSP00000324598:K186E;ENSP00000343768:K154E	ENSP00000324598:K186E	K	+	1	0	ZNF540	42794577	0.035000	0.19736	0.002000	0.10522	0.209000	0.24338	0.259000	0.18405	0.022000	0.15160	0.260000	0.18958	AAA	ZNF540	-	NULL	ENSG00000171817		0.348	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF540	HGNC	protein_coding	OTTHUMT00000459481.1	22	0.00	0	A	NM_152606		38102737	38102737	+1	no_errors	ENST00000316433	ensembl	human	known	69_37n	missense	23	30.30	10	SNP	0.432	G
ZNF66	7617	genome.wustl.edu	37	19	20989859	20989859	+	Missense_Mutation	SNP	G	G	A	rs182587545		TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:20989859G>A	ENST00000344519.8	+	4	1476	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	AC010329.1_ENST00000582722.1_RNA|ZNF66_ENST00000425625.1_Intron			Q6ZN08	ZNF66_HUMAN	zinc finger protein 66	485					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CAAATGTGAAGAATGTGGCAA	0.398																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			M88375		19p12	2013-03-06	2013-03-06	2013-03-06	ENSG00000160229	ENSG00000160229			13135	other	unknown			"""zinc finger protein 66, pseudogene"""	ZNF66P		1505991	Standard	NG_023377		Approved	FLJ16537	uc002npe.3	Q6ZN08	OTTHUMG00000167735	ENST00000344519.8:c.1453G>A	19.37:g.20989859G>A	ENSP00000461425:p.Glu485Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	I3L4P5|Q15939	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.E485K	ENST00000344519.8	37	c.1453		19																																																																																			ZNF66P	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160229		0.398	ZNF66-001	KNOWN	basic|appris_principal	protein_coding	ZNF66P	HGNC	protein_coding	OTTHUMT00000395955.2	17	0.00	0	G	NG_023377		20989859	20989859	+1	no_errors	ENST00000344519	ensembl	human	novel	69_37n	missense	19	17.39	4	SNP	0.025	A
ZNF586	54807	genome.wustl.edu	37	19	58287980	58287980	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:58287980C>T	ENST00000396154.2	+	2	279	c.106C>T	c.(106-108)Cag>Tag	p.Q36*	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396150.4_Intron|ZNF586_ENST00000391702.3_5'UTR|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000599802.1_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	36	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q36K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAATGAGGCTCAGAGATGCCT	0.468																																						dbGAP											1	Substitution - Missense(1)	lung(1)											263.0	260.0	261.0					19																	58287980		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.106C>T	19.37:g.58287980C>T	ENSP00000379458:p.Gln36*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q36*	ENST00000396154.2	37	c.106	CCDS42640.1	19	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969503	0.74246	.	.	ENSG00000083828	ENST00000449441;ENST00000396154	.	.	.	2.06	2.06	0.26882	.	.	.	.	.	.	.	.	.	.	.	0.38616	D	0.951034	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	7.5304	0.27679	0.0:1.0:0.0:0.0	.	.	.	.	X	36	.	ENSP00000379458:Q36X	Q	+	1	0	ZNF586	62979792	0.858000	0.29795	0.256000	0.24389	0.825000	0.46686	1.693000	0.37742	1.135000	0.42183	0.655000	0.94253	CAG	ZNF586	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000083828		0.468	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF586	HGNC	protein_coding	OTTHUMT00000466825.2	137	0.00	0	C	NM_017652		58287980	58287980	+1	no_errors	ENST00000396154	ensembl	human	known	69_37n	nonsense	173	24.45	56	SNP	0.410	T
ZNF718	255403	genome.wustl.edu	37	4	124673	124673	+	lincRNA	SNP	C	C	T	rs140631262	byFrequency	TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr4:124673C>T	ENST00000510175.1	+	0	136							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TGTCCTCAGTCCCCTCCGGTG	0.677													C|||	36	0.0071885	0.0234	0.0072	5008	,	,		15708	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-			0			AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.124673C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SXZ4|Q3SXZ5	RNA	SNP	-	NULL	ENST00000510175.1	37	NULL		4																																																																																			ZNF718	-	-	ENSG00000250312		0.677	ZNF718-002	KNOWN	basic	lincRNA	ZNF718	HGNC	lincRNA	OTTHUMT00000357865.3	43	0.00	0	C	NM_001039127		124673	124673	+1	no_errors	ENST00000511079	ensembl	human	known	69_37n	rna	55	23.29	17	SNP	0.004	T
ZNF790	388536	genome.wustl.edu	37	19	37310934	37310934	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:37310934C>T	ENST00000356725.4	-	5	432	c.312G>A	c.(310-312)atG>atA	p.M104I	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	104					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TACAAATTCTCATTATTTCCA	0.368																																						dbGAP											0													86.0	88.0	87.0					19																	37310934		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.312G>A	19.37:g.37310934C>T	ENSP00000349161:p.Met104Ile	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.M104I	ENST00000356725.4	37	c.312	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	C	9.507	1.104765	0.20632	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288	T;T;T	0.04809	3.55;6.34;5.93	3.08	0.889	0.19212	.	.	.	.	.	T	0.03053	0.0090	N	0.21508	0.67	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48592	-0.9022	9	0.17369	T	0.5	.	5.0905	0.14706	0.0:0.709:0.0:0.291	.	104	Q6PG37	ZN790_HUMAN	I	104	ENSP00000349161:M104I;ENSP00000435944:M104I;ENSP00000433389:M104I	ENSP00000349161:M104I	M	-	3	0	ZNF790	42002774	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.630000	0.05502	0.157000	0.19338	-0.350000	0.07774	ATG	ZNF790	-	NULL	ENSG00000197863		0.368	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	HGNC	protein_coding	OTTHUMT00000385341.2	57	0.00	0	C	NM_206894		37310934	37310934	-1	no_errors	ENST00000356725	ensembl	human	known	69_37n	missense	53	10.17	6	SNP	0.028	T
ZNF772	400720	genome.wustl.edu	37	19	57985229	57985229	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:57985229C>T	ENST00000343280.4	-	5	1143	c.883G>A	c.(883-885)Gag>Aag	p.E295K	AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.E183K|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000356584.3_Missense_Mutation_p.E254K|ZNF772_ENST00000600175.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TCACCGCACTCATAAGGCCTT	0.473																																					Melanoma(5;289 436 14293 15924 30817)	dbGAP											0													113.0	110.0	111.0					19																	57985229		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.883G>A	19.37:g.57985229C>T	ENSP00000341165:p.Glu295Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJK9|B4DH56|B4DYS0	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.E295K	ENST00000343280.4	37	c.883	CCDS33133.1	19	.	.	.	.	.	.	.	.	.	.	C	10.92	1.486346	0.26686	.	.	ENSG00000197128	ENST00000343280;ENST00000427512;ENST00000356584;ENST00000291809	T;T;T	0.19250	2.16;2.16;2.16	3.54	-3.25	0.05079	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	N	0.01219	-0.95	0.09310	N	1	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.14578	0.001;0.001;0.011	T	0.36768	-0.9734	9	0.21014	T	0.42	.	1.2182	0.01918	0.1616:0.217:0.1592:0.4622	.	183;254;295	Q68DY9-2;A6NJK9;Q68DY9	.;.;ZN772_HUMAN	K	295;183;254;220	ENSP00000341165:E295K;ENSP00000395967:E183K;ENSP00000348992:E254K	ENSP00000291809:E220K	E	-	1	0	ZNF772	62677041	0.000000	0.05858	0.143000	0.22291	0.892000	0.51952	-5.127000	0.00148	-0.402000	0.07633	0.305000	0.20034	GAG	ZNF772	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197128		0.473	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF772	HGNC	protein_coding	OTTHUMT00000397447.1	83	0.00	0	C	NM_001024596		57985229	57985229	-1	no_errors	ENST00000343280	ensembl	human	known	69_37n	missense	73	22.34	21	SNP	0.000	T
ZNF837	116412	genome.wustl.edu	37	19	58879122	58879122	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr19:58879122C>T	ENST00000427624.2	-	3	1900	c.1578G>A	c.(1576-1578)ggG>ggA	p.G526G	CTD-2619J13.3_ENST00000599889.1_RNA|ZNF837_ENST00000597582.1_Silent_p.G526G			Q96EG3	ZN837_HUMAN	zinc finger protein 837	526					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)|skin(1)	2						CGGCGCGGCCCCCGTGCCGCT	0.706																																						dbGAP											0													3.0	4.0	4.0					19																	58879122		639	1468	2107	-	-	-	SO:0001819	synonymous_variant	0			BC012365	CCDS46216.1	19q13.43	2013-01-08			ENSG00000152475	ENSG00000152475		"""Zinc fingers, C2H2-type"""	25164	protein-coding gene	gene with protein product						12477932	Standard	NM_138466		Approved		uc002qsl.4	Q96EG3		ENST00000427624.2:c.1578G>A	19.37:g.58879122C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G526	ENST00000427624.2	37	c.1578	CCDS46216.1	19																																																																																			ZNF837	-	pfscan_Znf_C2H2	ENSG00000152475		0.706	ZNF837-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF837	HGNC	protein_coding	OTTHUMT00000466962.1	14	0.00	0	C	NM_138466		58879122	58879122	-1	no_errors	ENST00000427624	ensembl	human	known	69_37n	silent	13	23.53	4	SNP	0.885	T
ZSCAN23	222696	genome.wustl.edu	37	6	28402590	28402590	+	Silent	SNP	C	C	T			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr6:28402590C>T	ENST00000289788.4	-	4	967	c.822G>A	c.(820-822)gaG>gaA	p.E274E	ZSCAN23_ENST00000486481.1_5'Flank	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	274					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)|stomach(2)	4						CATAAGGCTTCTCACCTGTGT	0.517																																						dbGAP											0													86.0	77.0	80.0					6																	28402590		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK092117	CCDS47393.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000187987	ENSG00000187987		"""-"", ""Zinc fingers, C2H2-type"""	21193	protein-coding gene	gene with protein product			"""zinc finger protein 453"", ""zinc finger protein 390"""	ZNF453, ZNF390			Standard	NM_001012455		Approved	dJ29K1.3.1	uc003nli.4	Q3MJ62	OTTHUMG00000016346	ENST00000289788.4:c.822G>A	6.37:g.28402590C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96KV9	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E274	ENST00000289788.4	37	c.822	CCDS47393.1	6																																																																																			ZSCAN23	-	pfscan_Znf_C2H2	ENSG00000187987		0.517	ZSCAN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN23	HGNC	protein_coding	OTTHUMT00000043751.2	49	0.00	0	C	XM_167147		28402590	28402590	-1	no_errors	ENST00000289788	ensembl	human	known	69_37n	silent	76	17.39	16	SNP	1.000	T
ZSWIM6	57688	genome.wustl.edu	37	5	60822144	60822144	+	Silent	SNP	G	G	A			TCGA-BH-A0B6-01A-11D-A19Y-09	TCGA-BH-A0B6-10A-01D-A19Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e575ee5-731c-49fd-80fc-944b861e0ea7	7b99568d-3c2e-41a9-b8b8-0ba296a21aaf	g.chr5:60822144G>A	ENST00000252744.5	+	7	1758	c.1758G>A	c.(1756-1758)ctG>ctA	p.L586L		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	586					neuron projection morphogenesis (GO:0048812)|regulation of neuron migration (GO:2001222)		zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						GAGAAGCACTGAGACTAGCAA	0.428																																						dbGAP											0													149.0	127.0	134.0					5																	60822144		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			BC039438	CCDS47215.1	5q12.1	2011-03-17			ENSG00000130449	ENSG00000130449		"""Zinc fingers, SWIM-type"""	29316	protein-coding gene	gene with protein product		615951				10997877, 16427614	Standard	NM_020928		Approved	KIAA1577	uc003jsr.3	Q9HCJ5	OTTHUMG00000162388	ENST00000252744.5:c.1758G>A	5.37:g.60822144G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfscan_Znf_SWIM,prints_Antifreeze_1	p.L586	ENST00000252744.5	37	c.1758	CCDS47215.1	5																																																																																			ZSWIM6	-	NULL	ENSG00000130449		0.428	ZSWIM6-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZSWIM6	HGNC	protein_coding	OTTHUMT00000368710.1	43	0.00	0	G	NM_020928		60822144	60822144	+1	no_errors	ENST00000252744	ensembl	human	known	69_37n	silent	26	16.13	5	SNP	1.000	A
