#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DRAXIN	374946	broad.mit.edu	37	1	11766452	11766452	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:11766452G>A	ENST00000294485.5	+	2	272	c.137G>A	c.(136-138)gGc>gAc	p.G46D		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		GACCTCCCAGGCCCAGCGCTG	0.716																																						uc001asr.1		NA																	0					0						c.(136-138)GGC>GAC		chromosome 1 open reading frame 187 precursor							20.0	24.0	22.0					1																	11766452		2203	4300	6503	SO:0001583	missense	374946				axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region		g.chr1:11766452G>A	AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"""dorsal repulsive axon guidance protein"", ""neural tissue-specific cysteine-rich protein"""	612682	"""chromosome 1 open reading frame 187"""	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.137G>A	1.37:g.11766452G>A	ENSP00000294485:p.Gly46Asp						p.G46D	NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)	2	277	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	46						Missense_Mutation	SNP	ENST00000294485.5	37	c.137G>A	CCDS135.1	.	.	.	.	.	.	.	.	.	.	G	0.393	-0.922259	0.02396	.	.	ENSG00000162490	ENST00000294485	T	0.40756	1.02	4.73	2.86	0.33363	.	0.564152	0.17959	N	0.156248	T	0.21801	0.0525	N	0.17474	0.49	0.20873	N	0.99984	B	0.06786	0.001	B	0.09377	0.004	T	0.24154	-1.0168	10	0.12430	T	0.62	-7.1249	6.7651	0.23562	0.3094:0.0:0.6906:0.0	.	46	Q8NBI3	DRAXI_HUMAN	D	46	ENSP00000294485:G46D	ENSP00000294485:G46D	G	+	2	0	C1orf187	11689039	0.335000	0.24748	0.019000	0.16419	0.035000	0.12851	0.734000	0.26101	0.422000	0.26005	-0.448000	0.05591	GGC		0.716	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006325.1	NM_198545		9	27	0	0	0	0	9	27				
EFHD2	79180	broad.mit.edu	37	1	15752368	15752368	+	Splice_Site	SNP	T	T	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:15752368T>G	ENST00000375980.4	+	2	387	c.310T>G	c.(310-312)Tat>Gat	p.Y104D		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	104	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					membrane (GO:0016020)	calcium ion binding (GO:0005509)			large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CATCTGCAGGTATGATGCCGG	0.557																																						uc001awh.2		NA																	0					0						c.(310-312)TAT>GAT		EF-hand domain family, member D2							75.0	84.0	81.0					1																	15752368		2203	4300	6503	SO:0001630	splice_region_variant	79180					membrane raft		g.chr1:15752368T>G	BC014923	CCDS155.1	1p36	2014-07-01	2005-01-25		ENSG00000142634	ENSG00000142634		"""EF-hand domain containing"""	28670	protein-coding gene	gene with protein product	"""swiprosin-1"""		"""EF hand domain containing 2"""			21244694	Standard	NM_024329		Approved	MGC4342	uc001awh.2	Q96C19	OTTHUMG00000002254	ENST00000375980.4:c.309-1T>G	1.37:g.15752368T>G							p.Y104D	NM_024329	NP_077305	Q96C19	EFHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	2	387	+		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)	104			EF-hand 1.		Q5JYW9	Missense_Mutation	SNP	ENST00000375980.4	37	c.310T>G	CCDS155.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.68|16.68	3.190607|3.190607	0.58017|0.58017	.|.	.|.	ENSG00000142634|ENSG00000142634	ENST00000445566|ENST00000375980;ENST00000375975	.|T	.|0.73047	.|-0.71	4.48|4.48	4.48|4.48	0.54585|0.54585	.|EF-hand-like domain (1);	.|0.142494	.|0.48767	.|D	.|0.000173	D|D	0.87321|0.87321	0.6148|0.6148	H|H	0.94886|0.94886	3.595|3.595	0.80722|0.80722	D|D	1|1	.|D	.|0.64830	.|0.994	.|D	.|0.71656	.|0.974	D|D	0.90673|0.90673	0.4599|0.4599	5|10	.|0.87932	.|D	.|0	-30.7059|-30.7059	13.3083|13.3083	0.60365|0.60365	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|104	.|Q96C19	.|EFHD2_HUMAN	G|D	6|104;5	.|ENSP00000365147:Y104D	.|ENSP00000365142:Y5D	V|Y	+|+	2|1	0|0	EFHD2|EFHD2	15624955|15624955	1.000000|1.000000	0.71417|0.71417	0.940000|0.940000	0.37924|0.37924	0.237000|0.237000	0.25408|0.25408	6.253000|6.253000	0.72453|0.72453	1.965000|1.965000	0.57142|0.57142	0.460000|0.460000	0.39030|0.39030	GTA|TAT		0.557	EFHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006433.1	NM_024329	Missense_Mutation	10	96	0	0	0	0	10	96				
AGO4	192670	broad.mit.edu	37	1	36316594	36316594	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:36316594A>G	ENST00000373210.3	+	17	2662	c.2417A>G	c.(2416-2418)tAt>tGt	p.Y806C	AGO4_ENST00000488778.1_3'UTR	NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	806	Piwi. {ECO:0000255|HAMAP-Rule:MF_03033}.				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)|mRNA catabolic process (GO:0006402)|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)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										GCCCCTGCATATTATGCCCGG	0.453																																						uc001bzj.1		NA																	0				ovary(1)	1						c.(2416-2418)TAT>TGT		eukaryotic translation initiation factor 2C, 4							88.0	78.0	81.0					1																	36316594		2203	4300	6503	SO:0001583	missense	192670				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36316594A>G	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.2417A>G	1.37:g.36316594A>G	ENSP00000362306:p.Tyr806Cys						p.Y806C	NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN			17	2607	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	806			Piwi.		A7MD27	Missense_Mutation	SNP	ENST00000373210.3	37	c.2417A>G	CCDS397.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.061762	0.76187	.	.	ENSG00000134698	ENST00000373210	T	0.34667	1.35	5.22	5.22	0.72569	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.65811	0.2727	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71596	-0.4545	10	0.48119	T	0.1	-12.4275	15.1133	0.72375	1.0:0.0:0.0:0.0	.	806	Q9HCK5	AGO4_HUMAN	C	806	ENSP00000362306:Y806C	ENSP00000362306:Y806C	Y	+	2	0	EIF2C4	36089181	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.335000	0.96500	1.958000	0.56883	0.482000	0.46254	TAT		0.453	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		4	33	0	0	0	0	4	33				
COL8A2	1296	broad.mit.edu	37	1	36564363	36564363	+	Missense_Mutation	SNP	G	G	A	rs372280		TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:36564363G>A	ENST00000397799.1	-	4	1143	c.919C>T	c.(919-921)Cct>Tct	p.P307S	COL8A2_ENST00000481785.1_Missense_Mutation_p.P242S|COL8A2_ENST00000303143.4_Missense_Mutation_p.P307S			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	307	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATCAGCCCAGGGGGGCCCCGG	0.706																																						uc001bzv.1		NA																	0				central_nervous_system(1)	1						c.(919-921)CCT>TCT		collagen, type VIII, alpha 2 precursor							10.0	13.0	12.0					1																	36564363		2048	4087	6135	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36564363G>A	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.919C>T	1.37:g.36564363G>A	ENSP00000380901:p.Pro307Ser					COL8A2_uc001bzw.1_Missense_Mutation_p.P242S	p.P307S	NM_005202	NP_005193	P25067	CO8A2_HUMAN			2	926	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	307			Triple-helical region.		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.919C>T	CCDS403.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411382	0.42817	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785	D;D;D	0.95518	-3.73;-3.73;-3.73	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	D	0.97554	0.9199	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97697	1.0182	10	0.46703	T	0.11	.	15.9203	0.79562	0.0:0.0:1.0:0.0	.	307	P25067	CO8A2_HUMAN	S	307;307;242	ENSP00000305913:P307S;ENSP00000380901:P307S;ENSP00000436433:P242S	ENSP00000305913:P307S	P	-	1	0	COL8A2	36336950	1.000000	0.71417	0.989000	0.46669	0.629000	0.37895	9.562000	0.98145	1.971000	0.57363	0.407000	0.27541	CCT		0.706	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		25	32	0	0	0	0	25	32				
GLMN	11146	broad.mit.edu	37	1	92752126	92752126	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:92752126G>T	ENST00000370360.3	-	7	737	c.656C>A	c.(655-657)cCt>cAt	p.P219H	GLMN_ENST00000534881.1_Missense_Mutation_p.P219H	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	219					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TGTCAGCAAAGGGCATTTCAA	0.333									Multiple Glomus Tumors (of the Skin), Familial																													uc001dor.2		NA																	0				skin(1)	1						c.(655-657)CCT>CAT		glomulin																																				SO:0001583	missense	11146	Multiple_Glomus_Tumors_(of_the_Skin)_Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92752126G>T	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.656C>A	1.37:g.92752126G>T	ENSP00000359385:p.Pro219His					GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.P219H	p.P219H	NM_053274	NP_444504	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	7	771	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	219	P->A: Loss of interaction with FKBP12 and FKBP59.				Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	c.656C>A	CCDS738.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322477	0.81580	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.47528	0.84;0.84	5.81	5.81	0.92471	.	0.049321	0.85682	D	0.000000	T	0.65491	0.2696	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67313	-0.5702	10	0.87932	D	0	-14.556	19.6635	0.95885	0.0:0.0:1.0:0.0	.	219;219	B4DJ85;Q92990	.;GLMN_HUMAN	H	219	ENSP00000359385:P219H;ENSP00000440156:P219H	ENSP00000359385:P219H	P	-	2	0	GLMN	92524714	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.672000	0.74477	2.734000	0.93682	0.650000	0.86243	CCT		0.333	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		4	86	1	0	0.00024832	0.000271861	4	86				
ITGA10	8515	broad.mit.edu	37	1	145535818	145535818	+	Missense_Mutation	SNP	G	G	A	rs199533163		TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:145535818G>A	ENST00000369304.3	+	16	2181	c.2006G>A	c.(2005-2007)cGa>cAa	p.R669Q	ITGA10_ENST00000538811.1_Missense_Mutation_p.R538Q|ITGA10_ENST00000539363.1_Missense_Mutation_p.R526Q	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	669					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.R669Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTAGGCGGCGAGGCCAAGAG	0.577																																						uc001eoa.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(2005-2007)CGA>CAA		integrin, alpha 10 precursor							97.0	89.0	92.0					1																	145535818		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145535818G>A	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2006G>A	1.37:g.145535818G>A	ENSP00000358310:p.Arg669Gln					NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.R538Q|ITGA10_uc009wiw.2_Missense_Mutation_p.R526Q|ITGA10_uc010oyw.1_Missense_Mutation_p.R614Q	p.R669Q	NM_003637	NP_003628	O75578	ITA10_HUMAN			16	2082	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		669			Extracellular (Potential).		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.2006G>A	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.203273	0.38905	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.43688	0.94;0.94;0.94	5.44	4.46	0.54185	Integrin alpha-2 (1);	0.078725	0.51477	D	0.000092	T	0.09113	0.0225	N	0.14661	0.345	0.26035	N	0.981681	B;P;P;P	0.49783	0.37;0.883;0.928;0.796	B;B;B;B	0.43082	0.074;0.334;0.407;0.363	T	0.13124	-1.0521	10	0.07325	T	0.83	.	6.5725	0.22547	0.1837:0.0:0.8162:0.0	.	635;538;526;669	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	Q	669;635;526;538	ENSP00000358310:R669Q;ENSP00000439894:R526Q;ENSP00000440011:R538Q	ENSP00000358310:R669Q	R	+	2	0	ITGA10	144247175	0.917000	0.31117	0.880000	0.34516	0.781000	0.44180	2.925000	0.48884	2.828000	0.97474	0.655000	0.94253	CGA		0.577	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		25	139	0	0	0	0	25	139				
HRNR	388697	broad.mit.edu	37	1	152193084	152193084	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:152193084C>G	ENST00000368801.2	-	3	1096	c.1021G>C	c.(1021-1023)Ggc>Cgc	p.G341R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	341					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCTGAGCCAGACTCATAA	0.577																																						uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(1021-1023)GGC>CGC		hornerin							83.0	92.0	89.0					1																	152193084		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193084C>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1021G>C	1.37:g.152193084C>G	ENSP00000357791:p.Gly341Arg						p.G341R	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1097	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		341			3		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1021G>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	5.918	0.353414	0.11182	.	.	ENSG00000197915	ENST00000368801	T	0.05855	3.38	3.73	-1.77	0.07982	.	.	.	.	.	T	0.00637	0.0021	N	0.14661	0.345	0.09310	N	1	B	0.32893	0.389	B	0.26416	0.069	T	0.44952	-0.9294	9	0.11182	T	0.66	.	1.0301	0.01536	0.1551:0.2973:0.1523:0.3952	.	341	Q86YZ3	HORN_HUMAN	R	341	ENSP00000357791:G341R	ENSP00000357791:G341R	G	-	1	0	HRNR	150459708	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-0.024000	0.12435	-0.655000	0.05387	-0.206000	0.12725	GGC		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		11	124	0	0	0	0	11	124				
PEAR1	375033	broad.mit.edu	37	1	156876577	156876577	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:156876577T>A	ENST00000338302.3	+	7	774	c.549T>A	c.(547-549)taT>taA	p.Y183*	PEAR1_ENST00000292357.7_Nonsense_Mutation_p.Y183*			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	183					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGGCTACTATGGCCCTGCCT	0.632																																						uc001fqj.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(547-549)TAT>TAA		platelet endothelial aggregation receptor 1							95.0	85.0	88.0					1																	156876577		2203	4300	6503	SO:0001587	stop_gained	375033					integral to membrane		g.chr1:156876577T>A	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.549T>A	1.37:g.156876577T>A	ENSP00000344465:p.Tyr183*					PEAR1_uc009wsl.1_Intron|PEAR1_uc001fqk.1_5'UTR	p.Y183*	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN			6	665	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		183					Q8TEK2	Nonsense_Mutation	SNP	ENST00000338302.3	37	c.549T>A	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	T	35	5.561809	0.96527	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	.	.	.	4.81	2.47	0.30058	.	0.000000	0.44902	D	0.000407	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7035	0.28636	0.0:0.178:0.0:0.822	.	.	.	.	X	183	.	.	Y	+	3	2	PEAR1	155143201	0.999000	0.42202	0.993000	0.49108	0.743000	0.42351	0.426000	0.21363	0.333000	0.23563	-0.441000	0.05720	TAT		0.632	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		7	76	0	0	0	0	7	76				
MAP10	54627	broad.mit.edu	37	1	232942446	232942446	+	Silent	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:232942446T>C	ENST00000418460.1	+	1	1804	c.1677T>C	c.(1675-1677)gcT>gcC	p.A559A		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	417					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										CAAGTCCTGCTCATATACATC	0.413																																						uc001hvh.2		NA																	0				ovary(1)	1						c.(1675-1677)GCT>GCC		hypothetical protein LOC54627							81.0	76.0	78.0					1																	232942446		1926	4154	6080	SO:0001819	synonymous_variant	54627							g.chr1:232942446T>C	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.1677T>C	1.37:g.232942446T>C							p.A559A	NM_019090	NP_061963	Q9P2G4	K1383_HUMAN			1	1809	+		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)	417					A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Silent	SNP	ENST00000418460.1	37	c.1677T>C	CCDS44334.1																																																																																				0.413	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		3	77	0	0	0	0	3	77				
CUBN	8029	broad.mit.edu	37	10	17061945	17061945	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr10:17061945C>T	ENST00000377833.4	-	28	4120	c.4055G>A	c.(4054-4056)gGa>gAa	p.G1352E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1352	CUB 8. {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)	CAGGTCTACTCCACAGTAGCG	0.493																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(4054-4056)GGA>GAA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						101.0	91.0	94.0					10																	17061945		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17061945C>T	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.4055G>A	10.37:g.17061945C>T	ENSP00000367064:p.Gly1352Glu						p.G1352E	NM_001081	NP_001072	O60494	CUBN_HUMAN			28	4107	-			1352			CUB 8.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.4055G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530361	0.64860	.	.	ENSG00000107611	ENST00000377833	T	0.64991	-0.13	5.49	5.49	0.81192	CUB (5);	0.000000	0.44097	D	0.000490	D	0.86108	0.5854	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90413	0.4411	10	0.72032	D	0.01	.	16.0882	0.81073	0.0:1.0:0.0:0.0	.	1352	O60494	CUBN_HUMAN	E	1352	ENSP00000367064:G1352E	ENSP00000367064:G1352E	G	-	2	0	CUBN	17101951	0.988000	0.35896	0.956000	0.39512	0.379000	0.30106	3.549000	0.53681	2.565000	0.86533	0.650000	0.86243	GGA		0.493	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		14	59	0	0	0	0	14	59				
WAPAL	23063	broad.mit.edu	37	10	88227232	88227232	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr10:88227232T>C	ENST00000298767.5	-	9	2646	c.2174A>G	c.(2173-2175)tAt>tGt	p.Y725C	WAPAL_ENST00000372075.1_5'UTR|WAPAL_ENST00000263070.7_5'UTR	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	725	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						ACTCAGTATATACATGAGGGC	0.388																																						uc001kdo.2		NA																	0				ovary(1)	1						c.(2173-2175)TAT>TGT		wings apart-like homolog							66.0	58.0	61.0					10																	88227232		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88227232T>C	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.2174A>G	10.37:g.88227232T>C	ENSP00000298767:p.Tyr725Cys					WAPAL_uc009xsv.2_Missense_Mutation_p.Y39C|WAPAL_uc001kdn.2_Missense_Mutation_p.Y762C|WAPAL_uc009xsw.2_Missense_Mutation_p.Y719C	p.Y725C	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN			9	2616	-			725			WAPL.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.2174A>G	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.537082	0.85812	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.49139	0.79	5.99	5.99	0.97316	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71409	0.3336	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.75499	-0.3296	10	0.87932	D	0	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	719;763;725;762	B2RTX8;E9PH12;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	C	810;725;810	ENSP00000298767:Y725C	ENSP00000298767:Y725C	Y	-	2	0	WAPAL	88217212	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.040000	0.89188	2.291000	0.77112	0.533000	0.62120	TAT		0.388	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		14	49	0	0	0	0	14	49				
CEP55	55165	broad.mit.edu	37	10	95287808	95287808	+	Silent	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr10:95287808T>C	ENST00000371485.3	+	9	1597	c.1293T>C	c.(1291-1293)gcT>gcC	p.A431A		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	431	Required for localization to the interphase centrosome and to the midbody during cytokinesis.				establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				GTCCCACTGCTGCACTCAATG	0.463																																						uc009xug.2		NA																	0					0						c.(1291-1293)GCT>GCC		centrosomal protein 55kDa							92.0	92.0	92.0					10																	95287808		2203	4300	6503	SO:0001819	synonymous_variant	55165				cell division|mitosis	centriole|cleavage furrow|midbody		g.chr10:95287808T>C	AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.1293T>C	10.37:g.95287808T>C						CEP55_uc001kiq.3_Silent_p.A431A	p.A431A	NM_001127182	NP_001120654	Q53EZ4	CEP55_HUMAN			9	1475	+		Colorectal(252;0.207)	431			Required for localization to the interphase centrosome and to the midbody during cytokinesis.		B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Silent	SNP	ENST00000371485.3	37	c.1293T>C	CCDS7428.1																																																																																				0.463	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131		23	64	0	0	0	0	23	64				
MUC5B	727897	broad.mit.edu	37	11	1274140	1274140	+	Missense_Mutation	SNP	C	C	G	rs375803330		TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:1274140C>G	ENST00000529681.1	+	33	15205	c.15147C>G	c.(15145-15147)tgC>tgG	p.C5049W	MUC5B_ENST00000447027.1_Missense_Mutation_p.C5052W	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5049					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACGTCACCTGCGTGAACAAGC	0.617																																						uc009ycr.1		NA																	0					0						c.(16111-16113)TGC>TGG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							66.0	75.0	72.0					11																	1274140		2154	4238	6392	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1274140C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15147C>G	11.37:g.1274140C>G	ENSP00000436812:p.Cys5049Trp					MUC5B_uc001ltb.2_Missense_Mutation_p.C5052W	p.C5371W	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	54	16239	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	5049					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.16113C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	9.671	1.146737	0.21288	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.54071	0.59;0.75	4.86	-5.15	0.02866	.	.	.	.	.	T	0.70046	0.3179	M	0.83483	2.645	0.31913	N	0.614372	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74940	-0.3493	9	0.87932	D	0	.	13.4323	0.61062	0.0:0.5501:0.0:0.4499	.	5371;5052	A7Y9J9;E9PBJ0	.;.	W	5049;5052;4993;4748	ENSP00000436812:C5049W;ENSP00000415793:C5052W	ENSP00000343037:C4993W	C	+	3	2	MUC5B	1230716	0.001000	0.12720	0.043000	0.18650	0.268000	0.26511	-2.047000	0.01408	-0.771000	0.04608	-0.459000	0.05422	TGC		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		6	33	0	0	0	0	6	33				
OR10A3	26496	broad.mit.edu	37	11	7960501	7960501	+	Silent	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:7960501A>G	ENST00000360759.3	-	1	640	c.567T>C	c.(565-567)tgT>tgC	p.C189C		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	189					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGTGTCTGCACACACAAGCT	0.418																																						uc010rbi.1		NA																	0				pancreas(1)	1						c.(565-567)TGT>TGC		olfactory receptor, family 10, subfamily A,							90.0	85.0	87.0					11																	7960501		2201	4296	6497	SO:0001819	synonymous_variant	26496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7960501A>G	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.567T>C	11.37:g.7960501A>G							p.C189C	NM_001003745	NP_001003745	P58181	O10A3_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	567	-			189			Extracellular (Potential).		B9EH39|Q6IF58|Q96R11	Silent	SNP	ENST00000360759.3	37	c.567T>C	CCDS31421.1																																																																																				0.418	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745		5	95	0	0	0	0	5	95				
PDE3B	5140	broad.mit.edu	37	11	14853185	14853185	+	Splice_Site	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:14853185G>C	ENST00000282096.4	+	9	2309		c.e9-1		PDE3B_ENST00000455098.2_Splice_Site	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited						angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	TGTATGTACAGATTGAACAGG	0.279																																						uc001mln.2		NA																	0					0						c.e9-1		phosphodiesterase 3B							56.0	61.0	59.0					11																	14853185		2199	4292	6491	SO:0001630	splice_region_variant	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14853185G>C	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1957-1G>C	11.37:g.14853185G>C						PDE3B_uc010rcr.1_Splice_Site_p.I602_splice	p.I653_splice	NM_000922	NP_000913	Q13370	PDE3B_HUMAN			9	2310	+								B7ZM37|O00639|Q14408|Q6SEI4	Splice_Site	SNP	ENST00000282096.4	37	c.1957_splice	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702299	0.88924	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8646	0.57932	0.0777:0.0:0.9222:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDE3B	14809761	1.000000	0.71417	0.976000	0.42696	0.795000	0.44927	7.083000	0.76859	2.614000	0.88457	0.467000	0.42956	.		0.279	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922	Intron	33	62	0	0	0	0	33	62				
DDB1	1642	broad.mit.edu	37	11	61097015	61097015	+	Silent	SNP	G	G	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:61097015G>T	ENST00000301764.7	-	4	766	c.369C>A	c.(367-369)atC>atA	p.I123I	DDB1_ENST00000545930.1_5'Flank|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	123	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CAGGGTCAATGATGCCAATAA	0.498								Nucleotide excision repair (NER)																														uc001nrc.3		NA																	0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(367-369)ATC>ATA	NER	damage-specific DNA binding protein 1							41.0	40.0	40.0					11																	61097015		2203	4299	6502	SO:0001819	synonymous_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61097015G>T	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.369C>A	11.37:g.61097015G>T						DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.I123I|DDB1_uc010rlg.1_5'Flank|DDB1_uc001nrd.2_Silent_p.I123I|DDB1_uc009ynl.1_Intron	p.I123I	NM_001923	NP_001914	Q16531	DDB1_HUMAN			4	595	-			123			Interaction with CDT1.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	37	c.369C>A	CCDS31576.1																																																																																				0.498	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		9	14	1	0	0.000274275	0.000298451	9	14				
SCYL1	57410	broad.mit.edu	37	11	65303563	65303563	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:65303563C>T	ENST00000270176.5	+	11	1603	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	SCYL1_ENST00000279270.6_Missense_Mutation_p.P509L|SCYL1_ENST00000527009.1_Missense_Mutation_p.P366L|SCYL1_ENST00000533862.1_Missense_Mutation_p.P509L|SCYL1_ENST00000420247.2_Missense_Mutation_p.P509L|SCYL1_ENST00000524944.1_Missense_Mutation_p.P509L|SCYL1_ENST00000525364.1_Missense_Mutation_p.P509L	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	509					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						AAGATCCTGCCTGTGCTCTGC	0.617																																						uc001oea.1		NA																	0				skin(1)	1						c.(1525-1527)CCT>CTT		SCY1-like 1 isoform A							96.0	97.0	97.0					11																	65303563		2002	4174	6176	SO:0001583	missense	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65303563C>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1526C>T	11.37:g.65303563C>T	ENSP00000270176:p.Pro509Leu					SCYL1_uc009yqk.2_Missense_Mutation_p.P509L|SCYL1_uc001oeb.1_Missense_Mutation_p.P509L|SCYL1_uc001oec.1_Missense_Mutation_p.P509L|SCYL1_uc001oed.1_Missense_Mutation_p.P366L|SCYL1_uc001oee.1_Missense_Mutation_p.P153L	p.P509L	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN			11	1603	+			509			HEAT 3.		A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	c.1526C>T	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217058	0.95104	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67951	0.2948	M	0.89658	3.05	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.993;1.0;1.0;1.0;1.0	T	0.75091	-0.3440	10	0.87932	D	0	-4.2544	16.7806	0.85562	0.0:1.0:0.0:0.0	.	509;509;509;509;509	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	L	509;509;509;509;509;509;509;509;366	ENSP00000270176:P509L;ENSP00000431635:P509L;ENSP00000408192:P509L;ENSP00000437254:P509L;ENSP00000433450:P509L;ENSP00000279270:P509L;ENSP00000432175:P509L;ENSP00000436993:P366L	ENSP00000270176:P509L	P	+	2	0	SCYL1	65060139	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.864000	0.75494	2.577000	0.86979	0.462000	0.41574	CCT		0.617	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		39	71	0	0	0	0	39	71				
TCIRG1	10312	broad.mit.edu	37	11	67811734	67811734	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:67811734C>T	ENST00000265686.3	+	9	1051	c.943C>T	c.(943-945)Cac>Tac	p.H315Y	TCIRG1_ENST00000532635.1_Missense_Mutation_p.H99Y	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	315					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GAGCACCACGCACAAGTGCCT	0.687																																						uc001one.2		NA																	0				ovary(1)	1						c.(943-945)CAC>TAC		T-cell, immune regulator 1 isoform a							35.0	32.0	33.0					11																	67811734		2195	4290	6485	SO:0001583	missense	10312				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	g.chr11:67811734C>T	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.943C>T	11.37:g.67811734C>T	ENSP00000265686:p.His315Tyr					TCIRG1_uc001ong.2_Missense_Mutation_p.H99Y|TCIRG1_uc001onh.2_Missense_Mutation_p.H17Y|TCIRG1_uc001oni.2_5'UTR	p.H315Y	NM_006019	NP_006010	Q13488	VPP3_HUMAN			9	1051	+			315			Cytoplasmic (Potential).		O75877|Q8WVC5	Missense_Mutation	SNP	ENST00000265686.3	37	c.943C>T	CCDS8177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.57|14.57	2.573597|2.573597	0.45902|0.45902	.|.	.|.	ENSG00000110719|ENSG00000110719	ENST00000529364|ENST00000265686;ENST00000532635	.|D;D	.|0.88201	.|-1.84;-2.35	4.92|4.92	1.88|1.88	0.25563|0.25563	.|.	.|0.477001	.|0.24091	.|N	.|0.041625	T|T	0.80199|0.80199	0.4579|0.4579	L|L	0.35854|0.35854	1.095|1.095	0.27204|0.27204	N|N	0.96009|0.96009	.|B	.|0.09022	.|0.002	.|B	.|0.12837	.|0.008	T|T	0.70809|0.70809	-0.4771|-0.4771	5|10	.|0.87932	.|D	.|0	-20.2703|-20.2703	3.369|3.369	0.07213|0.07213	0.1308:0.5554:0.1416:0.1722|0.1308:0.5554:0.1416:0.1722	.|.	.|315	.|Q13488	.|VPP3_HUMAN	V|Y	148|315;99	.|ENSP00000265686:H315Y;ENSP00000434407:H99Y	.|ENSP00000265686:H315Y	A|H	+|+	2|1	0|0	TCIRG1|TCIRG1	67568310|67568310	0.005000|0.005000	0.15991|0.15991	0.988000|0.988000	0.46212|0.46212	0.940000|0.940000	0.58332|0.58332	0.087000|0.087000	0.14958|0.14958	0.676000|0.676000	0.31285|0.31285	0.462000|0.462000	0.41574|0.41574	GCA|CAC		0.687	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019		4	31	0	0	0	0	4	31				
GUCY1A2	2977	broad.mit.edu	37	11	106681089	106681089	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:106681089G>C	ENST00000526355.2	-	5	1790	c.1322C>G	c.(1321-1323)tCa>tGa	p.S441*	GUCY1A2_ENST00000347596.2_Nonsense_Mutation_p.S462*|GUCY1A2_ENST00000282249.2_Nonsense_Mutation_p.S441*	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	441					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	AGGGATGTCTGAGAGATGTAG	0.453																																						uc001pjg.1		NA																	0				large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(1321-1323)TCA>TGA		guanylate cyclase 1, soluble, alpha 2							100.0	98.0	99.0					11																	106681089		2201	4298	6499	SO:0001587	stop_gained	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106681089G>C	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1322C>G	11.37:g.106681089G>C	ENSP00000431245:p.Ser441*					GUCY1A2_uc010rvo.1_Nonsense_Mutation_p.S462*|GUCY1A2_uc009yxn.1_Nonsense_Mutation_p.S441*	p.S441*	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	5	1712	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	441					A1L4C4|B7ZLT5	Nonsense_Mutation	SNP	ENST00000526355.2	37	c.1322C>G	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	G	42	9.605278	0.99217	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	.	.	.	5.64	5.64	0.86602	.	0.000000	0.38164	U	0.001796	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6821	0.91549	0.0:0.0:1.0:0.0	.	.	.	.	X	441;441;462	.	ENSP00000282249:S441X	S	-	2	0	GUCY1A2	106186299	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.476000	0.97823	2.644000	0.89710	0.650000	0.86243	TCA		0.453	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			107	816	0	0	0	0	107	816				
GUCY1A2	2977	broad.mit.edu	37	11	106681158	106681158	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:106681158G>T	ENST00000526355.2	-	5	1721	c.1253C>A	c.(1252-1254)tCc>tAc	p.S418Y	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S439Y|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S418Y	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	418					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	AAATAAAATGGAATTTGATTC	0.423																																						uc001pjg.1		NA																	0				large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(1252-1254)TCC>TAC		guanylate cyclase 1, soluble, alpha 2							77.0	81.0	80.0					11																	106681158		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106681158G>T	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1253C>A	11.37:g.106681158G>T	ENSP00000431245:p.Ser418Tyr					GUCY1A2_uc010rvo.1_Missense_Mutation_p.S439Y|GUCY1A2_uc009yxn.1_Missense_Mutation_p.S418Y	p.S418Y	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	5	1643	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	418					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.1253C>A	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.307959	0.40895	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.89875	-2.58;-2.58;-2.58	5.49	2.29	0.28610	Haem NO binding associated (1);	0.373144	0.19340	U	0.116676	D	0.90710	0.7085	L	0.53249	1.67	0.36570	D	0.872925	P;P;P	0.50617	0.937;0.937;0.912	P;P;P	0.58873	0.739;0.847;0.58	D	0.89031	0.3442	10	0.19590	T	0.45	.	15.2493	0.73532	0.0:0.4001:0.5999:0.0	.	439;418;418	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	Y	418;418;439	ENSP00000431245:S418Y;ENSP00000282249:S418Y;ENSP00000344874:S439Y	ENSP00000282249:S418Y	S	-	2	0	GUCY1A2	106186368	1.000000	0.71417	0.938000	0.37757	0.228000	0.25075	5.328000	0.65887	0.612000	0.30071	0.650000	0.86243	TCC		0.423	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			89	861	1	0	7.49e-41	8.76e-41	89	861				
FXYD2	486	broad.mit.edu	37	11	117695379	117695379	+	Silent	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr11:117695379C>T	ENST00000292079.2	-	1	80	c.15G>A	c.(13-15)tcG>tcA	p.S5S	RP11-728F11.3_ENST00000596805.1_RNA|FXYD2_ENST00000532119.1_Intron|FXYD2_ENST00000260287.2_Intron|FXYD6-FXYD2_ENST00000532984.1_Intron|FXYD2_ENST00000528014.1_Intron|RP11-728F11.3_ENST00000531850.2_RNA	NM_001680.4	NP_001671.2	P54710	ATNG_HUMAN	FXYD domain containing ion transport regulator 2	5					ion transmembrane transport (GO:0034220)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ion channel activity (GO:0005216)|sodium:potassium-exchanging ATPase activity (GO:0005391)|transporter activity (GO:0005215)			breast(1)|kidney(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;2.83e-05)|Epithelial(105;0.00114)	Cyclothiazide(DB00606)	CACCGTCCATCGACAACCCAG	0.612																																						uc001prj.2		NA																	0					0						c.(13-15)TCG>TCA		FXYD domain-containing ion transport regulator 2	Cyclothiazide(DB00606)						224.0	157.0	179.0					11																	117695379		2201	4296	6497	SO:0001819	synonymous_variant	486					sodium:potassium-exchanging ATPase complex	ion channel activity|sodium:potassium-exchanging ATPase activity	g.chr11:117695379C>T	AF241236	CCDS8385.1, CCDS8386.1	11q23	2008-02-05	2003-02-28						4026	protein-coding gene	gene with protein product		601814	"""hypomagnesemia 2, renal"""	ATP1G1, HOMG2		9048881, 9915957	Standard	NM_021603		Approved	MGC12372		P54710		ENST00000292079.2:c.15G>A	11.37:g.117695379C>T						FXYD2_uc001prl.2_Silent_p.S5S|FXYD2_uc001prk.1_Intron	p.S5S	NM_001680	NP_001671	P54710	ATNG_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.83e-05)|Epithelial(105;0.00114)	1	81	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)	5					Q15332|Q53YC1|Q9GZP3|Q9GZQ7	Silent	SNP	ENST00000292079.2	37	c.15G>A	CCDS8386.1																																																																																				0.612	FXYD2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390050.1	NM_021603		10	24	0	0	0	0	10	24				
VWF	7450	broad.mit.edu	37	12	6094236	6094236	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr12:6094236G>C	ENST00000261405.5	-	40	7205	c.6951C>G	c.(6949-6951)gaC>gaG	p.D2317E		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2317	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGCAGCACTGGTCTGCATTCT	0.597																																						uc001qnn.1		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(6949-6951)GAC>GAG		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						100.0	94.0	96.0					12																	6094236		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6094236G>C		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6951C>G	12.37:g.6094236G>C	ENSP00000261405:p.Asp2317Glu					VWF_uc010set.1_Intron	p.D2317E	NM_000552	NP_000543	P04275	VWF_HUMAN			40	7201	-			2317			VWFC 1.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.6951C>G	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	3.329	-0.137028	0.06711	.	.	ENSG00000110799	ENST00000261405	T	0.36699	1.24	5.33	-0.698	0.11280	von Willebrand factor, type C (3);	1.371960	0.05078	N	0.482934	T	0.24314	0.0589	L	0.28192	0.835	0.50171	D	0.999851	B	0.06786	0.001	B	0.04013	0.001	T	0.33854	-0.9852	10	0.09590	T	0.72	.	10.4603	0.44575	0.0:0.4136:0.3621:0.2242	.	2317	P04275	VWF_HUMAN	E	2317	ENSP00000261405:D2317E	ENSP00000261405:D2317E	D	-	3	2	VWF	5964497	0.002000	0.14202	0.239000	0.24122	0.046000	0.14306	-0.032000	0.12266	0.213000	0.20722	-0.304000	0.09214	GAC		0.597	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		24	101	0	0	0	0	24	101				
MANSC1	54682	broad.mit.edu	37	12	12496065	12496065	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr12:12496065C>G	ENST00000535902.1	-	2	747	c.184G>C	c.(184-186)Gac>Cac	p.D62H	MANSC1_ENST00000396349.3_Missense_Mutation_p.D28H			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	62	MANSC. {ECO:0000255|PROSITE- ProRule:PRU00341}.					integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TTAATGCAGTCTTCTTGAGTT	0.403																																						uc001rai.1		NA																	0					0						c.(184-186)GAC>CAC		MANSC domain containing 1 precursor							173.0	173.0	173.0					12																	12496065		2203	4300	6503	SO:0001583	missense	54682					integral to membrane		g.chr12:12496065C>G	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.184G>C	12.37:g.12496065C>G	ENSP00000438205:p.Asp62His					MANSC1_uc001raj.1_Missense_Mutation_p.D28H|MANSC1_uc009zht.1_Intron	p.D62H	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	2	442	-		Prostate(47;0.0865)	62			MANSC.|Extracellular (Potential).		Q8NEC1|Q9NW60	Missense_Mutation	SNP	ENST00000535902.1	37	c.184G>C	CCDS8648.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109693	0.77096	.	.	ENSG00000111261	ENST00000535902;ENST00000396349	T;T	0.26373	1.74;1.74	5.66	5.66	0.87406	Seven cysteines (1);Seven cysteines, N-terminal (2);	0.000000	0.42420	D	0.000713	T	0.47525	0.1450	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.35425	-0.9789	10	0.59425	D	0.04	-12.0308	16.6671	0.85255	0.0:1.0:0.0:0.0	.	28;62	Q9NW60;Q9H8J5	.;MANS1_HUMAN	H	62;28	ENSP00000438205:D62H;ENSP00000379638:D28H	ENSP00000379638:D28H	D	-	1	0	MANSC1	12387332	1.000000	0.71417	0.981000	0.43875	0.842000	0.47809	2.830000	0.48136	2.648000	0.89879	0.655000	0.94253	GAC		0.403	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		4	171	0	0	0	0	4	171				
PTPRO	5800	broad.mit.edu	37	12	15668508	15668508	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr12:15668508G>A	ENST00000281171.4	+	8	1871	c.1541G>A	c.(1540-1542)gGc>gAc	p.G514D	PTPRO_ENST00000543886.1_Missense_Mutation_p.G514D|PTPRO_ENST00000348962.2_Missense_Mutation_p.G514D	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	514	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CTAAGGAAAGGCCCTTTGATT	0.413																																						uc001rcv.1		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(1540-1542)GGC>GAC		receptor-type protein tyrosine phosphatase O							136.0	122.0	127.0					12																	15668508		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15668508G>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1541G>A	12.37:g.15668508G>A	ENSP00000281171:p.Gly514Asp					PTPRO_uc001rcw.1_Missense_Mutation_p.G514D|PTPRO_uc001rcu.1_Missense_Mutation_p.G514D	p.G514D	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			8	1715	+		Hepatocellular(102;0.244)	514			Extracellular (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.1541G>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709030	0.89018	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T;T	0.60424	0.19;0.19;0.19	5.15	5.15	0.70609	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000070	T	0.63663	0.2530	N	0.24115	0.695	0.80722	D	1	P;D;D	0.89917	0.952;0.961;1.0	P;P;D	0.97110	0.657;0.768;1.0	T	0.60342	-0.7282	10	0.29301	T	0.29	.	17.0473	0.86508	0.0:0.0:1.0:0.0	.	514;514;514	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	D	514	ENSP00000281171:G514D;ENSP00000444173:G514D;ENSP00000343434:G514D	ENSP00000281171:G514D	G	+	2	0	PTPRO	15559775	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.906000	0.75719	2.695000	0.91970	0.650000	0.86243	GGC		0.413	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			31	104	0	0	0	0	31	104				
SMUG1	23583	broad.mit.edu	37	12	54576179	54576179	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr12:54576179G>A	ENST00000508394.2	-	3	576	c.514C>T	c.(514-516)Ccc>Tcc	p.P172S	SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000337581.3_Missense_Mutation_p.P172S|SMUG1_ENST00000401977.2_Missense_Mutation_p.P172S|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000505662.1_5'UTR	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	172				Missing (in Ref. 3; BAC03670). {ECO:0000305}.	base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)			kidney(1)|large_intestine(4)|lung(1)	6						CGCCCGCTGGGAGCCAGGAAA	0.577								Base excision repair (BER), DNA glycosylases																														uc001sff.1		NA																	0					0						c.(514-516)CCC>TCC	BER_DNA_glycosylases	single-strand-selective monofunctional							78.0	80.0	79.0					12																	54576179		2203	4300	6503	SO:0001583	missense	23583				depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity	g.chr12:54576179G>A	AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.514C>T	12.37:g.54576179G>A	ENSP00000424191:p.Pro172Ser					SMUG1_uc001sfa.1_5'Flank|SMUG1_uc001sfe.1_3'UTR|SMUG1_uc001sfg.1_Missense_Mutation_p.P172S|SMUG1_uc009znf.1_Missense_Mutation_p.P172S|SMUG1_uc001sfb.3_Intron|SMUG1_uc001sfc.3_Intron|SMUG1_uc001sfd.3_Intron	p.P172S	NM_014311	NP_055126	Q53HV7	SMUG1_HUMAN			4	643	-			172	Missing (in Ref. 3; BAC03670).				A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Missense_Mutation	SNP	ENST00000508394.2	37	c.514C>T	CCDS8874.1	.	.	.	.	.	.	.	.	.	.	G	8.908	0.957955	0.18507	.	.	ENSG00000123415	ENST00000337581;ENST00000508394;ENST00000401977;ENST00000504338	T;T;T;T	0.41065	1.01;1.01;1.01;1.26	4.86	0.526	0.17078	Uracil-DNA glycosylase-like (3);	0.692635	0.15160	N	0.277224	T	0.19005	0.0456	N	0.12182	0.205	0.58432	D	0.999999	B	0.28208	0.203	B	0.24269	0.052	T	0.06445	-1.0826	10	0.21540	T	0.41	.	5.4586	0.16604	0.0793:0.3528:0.4417:0.1262	.	172	Q53HV7	SMUG1_HUMAN	S	172	ENSP00000338606:P172S;ENSP00000424191:P172S;ENSP00000384828:P172S;ENSP00000423083:P172S	ENSP00000338606:P172S	P	-	1	0	SMUG1	52862446	0.976000	0.34144	0.985000	0.45067	0.930000	0.56654	0.538000	0.23160	0.181000	0.19994	-0.251000	0.11542	CCC		0.577	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359074.3	NM_014311		6	122	0	0	0	0	6	122				
KERA	11081	broad.mit.edu	37	12	91449227	91449227	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr12:91449227G>T	ENST00000266719.3	-	2	1079	c.832C>A	c.(832-834)Ccc>Acc	p.P278T		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	278					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CTGATTCGGGGAACCTTTGTG	0.408																																						uc001tbl.2		NA																	0				skin(1)	1						c.(832-834)CCC>ACC		keratocan precursor							125.0	118.0	120.0					12																	91449227		2203	4299	6502	SO:0001583	missense	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449227G>T	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.832C>A	12.37:g.91449227G>T	ENSP00000266719:p.Pro278Thr						p.P278T	NM_007035	NP_008966	O60938	KERA_HUMAN			2	1451	-			278			LRR 9.			Missense_Mutation	SNP	ENST00000266719.3	37	c.832C>A	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548157	0.65311	.	.	ENSG00000139330	ENST00000266719	T	0.27104	1.69	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.59211	0.2177	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61705	-0.7008	10	0.62326	D	0.03	-19.0704	20.2963	0.98556	0.0:0.0:1.0:0.0	.	278	O60938	KERA_HUMAN	T	278	ENSP00000266719:P278T	ENSP00000266719:P278T	P	-	1	0	KERA	89973358	1.000000	0.71417	0.999000	0.59377	0.636000	0.38137	9.476000	0.97823	2.813000	0.96785	0.655000	0.94253	CCC		0.408	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		33	104	1	0	1.04e-10	1.19e-10	33	104				
ZMYM2	7750	broad.mit.edu	37	13	20641120	20641120	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr13:20641120C>G	ENST00000382874.2	+	21	3452	c.3262C>G	c.(3262-3264)Ctt>Gtt	p.L1088V	ZMYM2_ENST00000494061.2_3'UTR|ZMYM2_ENST00000382871.2_Missense_Mutation_p.L1088V|ZMYM2_ENST00000382869.3_Missense_Mutation_p.L1088V	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1088					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AACTAGGCAACTTGATGAAGA	0.338																																						uc001umr.2		NA																	0				lung(3)|ovary(2)|prostate(1)	6						c.(3262-3264)CTT>GTT		zinc finger protein 198							133.0	122.0	125.0					13																	20641120		1856	4088	5944	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20641120C>G	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3262C>G	13.37:g.20641120C>G	ENSP00000372327:p.Leu1088Val					ZMYM2_uc001ums.2_Missense_Mutation_p.L1088V|ZMYM2_uc001umt.2_Missense_Mutation_p.L1088V|ZMYM2_uc001umv.2_Missense_Mutation_p.L468V|ZMYM2_uc001umw.2_Missense_Mutation_p.L541V	p.L1088V	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	21	3560	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	1088					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.3262C>G	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	C	9.419	1.082419	0.20309	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.18338	2.22	5.19	4.35	0.52113	.	0.537872	0.19952	N	0.102415	T	0.08358	0.0208	N	0.08118	0	0.54753	D	0.999989	B	0.26809	0.16	B	0.19666	0.026	T	0.20874	-1.0262	10	0.42905	T	0.14	-5.7822	8.3266	0.32160	0.0:0.7471:0.0:0.2529	.	1088	Q9UBW7	ZMYM2_HUMAN	V	1088;1088;1086;1086;466	ENSP00000372322:L1088V	ENSP00000372322:L1088V	L	+	1	0	ZMYM2	19539120	0.278000	0.24230	0.913000	0.36048	0.987000	0.75469	0.606000	0.24194	1.193000	0.43086	0.462000	0.41574	CTT		0.338	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		5	66	0	0	0	0	5	66				
PCDH9	5101	broad.mit.edu	37	13	67800747	67800747	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr13:67800747A>G	ENST00000377865.2	-	1	1960	c.1826T>C	c.(1825-1827)cTt>cCt	p.L609P	PCDH9_ENST00000328454.5_Missense_Mutation_p.L609P|PCDH9_ENST00000377861.3_Missense_Mutation_p.L609P|PCDH9_ENST00000456367.1_Missense_Mutation_p.L609P|PCDH9_ENST00000544246.1_Missense_Mutation_p.L609P			Q9HC56	PCDH9_HUMAN	protocadherin 9	609	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)		TAGAATGGAAAGAGTCACAGC	0.383																																						uc001vik.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(1825-1827)CTT>CCT		protocadherin 9 isoform 1 precursor							99.0	99.0	99.0					13																	67800747		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67800747A>G	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.1826T>C	13.37:g.67800747A>G	ENSP00000367096:p.Leu609Pro					PCDH9_uc001vil.2_Missense_Mutation_p.L609P|PCDH9_uc010thl.1_Missense_Mutation_p.L609P|PCDH9_uc001vin.3_Missense_Mutation_p.L609P	p.L609P	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	2518	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	609			Extracellular (Potential).|Cadherin 6.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1826T>C	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.298719	0.81025	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	5.55	5.55	0.83447	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.70806	0.3266	M	0.81341	2.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.75320	-0.3359	10	0.87932	D	0	.	15.8615	0.79026	1.0:0.0:0.0:0.0	.	609;609;609;609	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	P	609	ENSP00000442186:L609P;ENSP00000367096:L609P;ENSP00000401699:L609P;ENSP00000332060:L609P;ENSP00000367092:L609P	ENSP00000332060:L609P	L	-	2	0	PCDH9	66698748	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.139000	0.94554	2.333000	0.79357	0.533000	0.62120	CTT		0.383	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		13	147	0	0	0	0	13	147				
ATP11A	23250	broad.mit.edu	37	13	113460594	113460594	+	Missense_Mutation	SNP	C	C	T	rs371064768		TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr13:113460594C>T	ENST00000487903.1	+	4	408	c.320C>T	c.(319-321)aCg>aTg	p.T107M	ATP11A_ENST00000283558.8_Missense_Mutation_p.T107M|ATP11A_ENST00000375645.3_Missense_Mutation_p.T107M|ATP11A_ENST00000375630.2_Missense_Mutation_p.T107M			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	107					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATTACTGTGACGGCTATCAAA	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		20929	0.001		0.0	False		,,,				2504	0.0					uc001vsi.3		NA																	0				large_intestine(2)|ovary(2)	4						c.(319-321)ACG>ATG		ATPase, class VI, type 11A isoform a		C	MET/THR,MET/THR	0,4406		0,0,2203	162.0	145.0	150.0		320,320	5.2	0.8	13		150	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ATP11A	NM_015205.2,NM_032189.3	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	107/1135,107/1192	113460594	1,13005	2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113460594C>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.320C>T	13.37:g.113460594C>T	ENSP00000420387:p.Thr107Met					ATP11A_uc001vsj.3_Missense_Mutation_p.T107M|ATP11A_uc001vsm.1_Translation_Start_Site	p.T107M	NM_015205	NP_056020	P98196	AT11A_HUMAN			4	408	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	107			Helical; (Potential).		Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.320C>T	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.19|16.19	3.053454|3.053454	0.55218|0.55218	0.0|0.0	1.16E-4|1.16E-4	ENSG00000068650|ENSG00000068650	ENST00000418678|ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	.|D;D;D;D	.|0.89415	.|-2.51;-2.51;-2.51;-2.51	5.2|5.2	5.2|5.2	0.72013|0.72013	.|ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96433|0.96433	0.8836|0.8836	H|H	0.96430|0.96430	3.82|3.82	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	D|D	0.97673|0.97673	1.0168|1.0168	5|10	.|0.72032	.|D	.|0.01	.|.	17.5437|17.5437	0.87855|0.87855	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|107;107	.|E9PEJ6;P98196	.|.;AT11A_HUMAN	W|M	82|107	.|ENSP00000420387:T107M;ENSP00000364781:T107M;ENSP00000364796:T107M;ENSP00000283558:T107M	.|ENSP00000283558:T107M	R|T	+|+	1|2	2|0	ATP11A|ATP11A	112508595|112508595	1.000000|1.000000	0.71417|0.71417	0.800000|0.800000	0.32199|0.32199	0.065000|0.065000	0.16274|0.16274	6.646000|6.646000	0.74348|0.74348	2.423000|2.423000	0.82170|0.82170	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.398	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		32	138	0	0	0	0	32	138				
FAM71D	161142	broad.mit.edu	37	14	67671509	67671509	+	3'UTR	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr14:67671509G>A	ENST00000556046.1	+	0	1156							Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D							cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		CCATGGATGTGACGGATGTCA	0.493																																						uc001xja.1		NA																	0				ovary(1)	1						c.(613-615)GTG>GTA		hypothetical protein LOC161142							142.0	128.0	133.0					14																	67671509		2203	4300	6503	SO:0001624	3_prime_UTR_variant	161142							g.chr14:67671509G>A		CCDS9778.1	14q23.3	2007-11-20	2007-11-20	2007-11-20		ENSG00000172717			20101	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 54"""	C14orf54			Standard	NM_173526		Approved		uc001xja.2	Q8N9W8		ENST00000556046.1:c.*671G>A	14.37:g.67671509G>A						FAM71D_uc010aqn.1_RNA	p.V205V	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)	5	869	+		all_hematologic(31;0.0116)	205					Q86VN4	Silent	SNP	ENST00000556046.1	37	c.615G>A																																																																																					0.493	FAM71D-009	KNOWN	not_organism_supported|basic|appris_candidate	nonsense_mediated_decay	protein_coding	OTTHUMT00000412390.1	NM_173526		34	145	0	0	0	0	34	145				
PCNX	22990	broad.mit.edu	37	14	71444274	71444274	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr14:71444274C>G	ENST00000304743.2	+	6	1666	c.1220C>G	c.(1219-1221)tCa>tGa	p.S407*	PCNX_ENST00000238570.5_Nonsense_Mutation_p.S407*|PCNX_ENST00000439984.3_Nonsense_Mutation_p.S407*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	407						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGACCAGCTCAACTCACATA	0.512																																						uc001xmo.2		NA																	0				ovary(1)	1						c.(1219-1221)TCA>TGA		pecanex-like 1							81.0	82.0	82.0					14																	71444274		2203	4300	6503	SO:0001587	stop_gained	22990					integral to membrane		g.chr14:71444274C>G	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1220C>G	14.37:g.71444274C>G	ENSP00000304192:p.Ser407*					PCNX_uc001xmn.3_Nonsense_Mutation_p.S407*|PCNX_uc010are.1_Nonsense_Mutation_p.S407*	p.S407*	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	1666	+			407					B2RTR6|O94897|Q96AI7|Q9Y2J9	Nonsense_Mutation	SNP	ENST00000304743.2	37	c.1220C>G	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	39	7.732670	0.98459	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	.	.	.	5.93	5.93	0.95920	.	0.069273	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	20.3305	0.98715	0.0:1.0:0.0:0.0	.	.	.	.	X	407	.	ENSP00000238570:S407X	S	+	2	0	PCNX	70514027	1.000000	0.71417	0.974000	0.42286	0.602000	0.36980	7.294000	0.78760	2.816000	0.96949	0.650000	0.86243	TCA		0.512	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		4	135	0	0	0	0	4	135				
CLMN	79789	broad.mit.edu	37	14	95670064	95670064	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr14:95670064T>A	ENST00000298912.4	-	9	1735	c.1622A>T	c.(1621-1623)aAg>aTg	p.K541M		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	541					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CAGGTTAACCTTGATCTGGAA	0.433																																						uc001yef.2		NA																	0					0						c.(1621-1623)AAG>ATG		calmin							77.0	78.0	78.0					14																	95670064		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95670064T>A	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1622A>T	14.37:g.95670064T>A	ENSP00000298912:p.Lys541Met						p.K541M	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	1738	-			541					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.1622A>T	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.086016	0.55861	.	.	ENSG00000165959	ENST00000298912	D	0.94613	-3.47	5.76	-0.796	0.10912	.	0.705472	0.12333	N	0.478151	D	0.94644	0.8273	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	D	0.64042	0.921	D	0.86585	0.1856	10	0.87932	D	0	.	4.0243	0.09680	0.1759:0.3948:0.0:0.4293	.	541	Q96JQ2	CLMN_HUMAN	M	541	ENSP00000298912:K541M	ENSP00000298912:K541M	K	-	2	0	CLMN	94739817	0.383000	0.25156	0.391000	0.26233	0.038000	0.13279	-0.227000	0.09126	0.141000	0.18875	0.533000	0.62120	AAG		0.433	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			12	156	0	0	0	0	12	156				
HSP90AA1	3320	broad.mit.edu	37	14	102548742	102548742	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr14:102548742T>C	ENST00000216281.8	-	10	2000	c.1795A>G	c.(1795-1797)Att>Gtt	p.I599V	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.I721V	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	599					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	CTTGTGACAATACAGCATGGA	0.408																																						uc001yku.3		NA																	0				ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7						c.(1795-1797)ATT>GTT		heat shock 90kDa protein 1, alpha isoform 2	Rifabutin(DB00615)						68.0	64.0	65.0					14																	102548742		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102548742T>C	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1795A>G	14.37:g.102548742T>C	ENSP00000216281:p.Ile599Val					HSP90AA1_uc001ykv.3_Missense_Mutation_p.I721V	p.I599V	NM_005348	NP_005339	P07900	HS90A_HUMAN			10	1985	-			599					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.1795A>G	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	t	21.5	4.157736	0.78114	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	T;T	0.41400	1.0;1.0	4.3	4.3	0.51218	.	0.000000	0.85682	U	0.000000	T	0.46268	0.1384	L	0.55213	1.73	0.80722	D	1	P;B	0.38922	0.651;0.329	B;P	0.44623	0.326;0.455	T	0.49725	-0.8909	10	0.54805	T	0.06	-23.06	13.7519	0.62912	0.0:0.0:0.0:1.0	.	721;599	P07900-2;P07900	.;HS90A_HUMAN	V	599;721	ENSP00000216281:I599V;ENSP00000335153:I721V	ENSP00000216281:I599V	I	-	1	0	HSP90AA1	101618495	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.710000	0.84655	1.720000	0.51447	0.477000	0.44152	ATT		0.408	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		14	89	0	0	0	0	14	89				
GPR176	11245	broad.mit.edu	37	15	40093986	40093986	+	Missense_Mutation	SNP	C	C	T	rs139843045	byFrequency	TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr15:40093986C>T	ENST00000561100.1	-	3	1760	c.895G>A	c.(895-897)Gtc>Atc	p.V299I	RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000299092.3_Missense_Mutation_p.V298I|GPR176_ENST00000560729.1_5'Flank|GPR176_ENST00000543580.1_Missense_Mutation_p.V254I	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	299					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		AGCAAGAAGACGGAAGTGTCA	0.532											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	14	0.00279553	0.0091	0.0	5008	,	,		23559	0.0		0.0	False		,,,				2504	0.002					uc001zkj.1		NA																	0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(895-897)GTC>ATC		G protein-coupled receptor 176		C	ILE/VAL	37,4369	41.6+/-74.8	0,37,2166	77.0	75.0	76.0		895	-1.5	0.0	15	dbSNP_134	76	0,8600		0,0,4300	yes	missense	GPR176	NM_007223.1	29	0,37,6466	TT,TC,CC		0.0,0.8398,0.2845	benign	299/516	40093986	37,12969	2203	4300	6503	SO:0001583	missense	11245				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr15:40093986C>T	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.895G>A	15.37:g.40093986C>T	ENSP00000453076:p.Val299Ile		OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	890	GPR176_uc010uck.1_Missense_Mutation_p.V239I	p.V299I	NM_007223	NP_009154	Q14439	GP176_HUMAN		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)	3	1761	-		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	299			Extracellular (Potential).		Q6NXF6	Missense_Mutation	SNP	ENST00000561100.1	37	c.895G>A	CCDS10051.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	8.116	0.779835	0.16120	0.008398	0.0	ENSG00000166073	ENST00000299092;ENST00000543580	T	0.71817	-0.6	5.89	-1.55	0.08558	GPCR, rhodopsin-like superfamily (1);	0.728362	0.14235	N	0.332472	T	0.44808	0.1311	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.27020	-1.0086	10	0.17369	T	0.5	-10.086	11.1845	0.48648	0.0:0.5851:0.0:0.4149	.	299	Q14439	GP176_HUMAN	I	299;254	ENSP00000439361:V254I	ENSP00000299092:V299I	V	-	1	0	GPR176	37881278	0.000000	0.05858	0.005000	0.12908	0.907000	0.53573	-0.190000	0.09615	-0.585000	0.05905	0.655000	0.94253	GTC		0.532	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223		8	56	0	0	0	0	8	56				
FAM227B	196951	broad.mit.edu	37	15	49663515	49663515	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr15:49663515G>C	ENST00000299338.6	-	12	1397	c.1094C>G	c.(1093-1095)tCa>tGa	p.S365*		NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	365																	TGCTAGTCTTGATAATCTTGA	0.299																																						uc001zxl.2		NA																	0				ovary(1)	1						c.(1093-1095)TCA>TGA		hypothetical protein LOC196951							105.0	110.0	108.0					15																	49663515		2196	4290	6486	SO:0001587	stop_gained	196951							g.chr15:49663515G>C		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.1094C>G	15.37:g.49663515G>C	ENSP00000299338:p.Ser365*						p.S365*	NM_152647	NP_689860	Q96M60	CO033_HUMAN		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)	12	1388	-		all_lung(180;0.00187)	365					Q86WS2	Nonsense_Mutation	SNP	ENST00000299338.6	37	c.1094C>G	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434752	0.83885	.	.	ENSG00000166262	ENST00000299338	.	.	.	3.63	0.476	0.16779	.	1.560740	0.03962	N	0.290247	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-8.3512	5.5294	0.16976	0.4188:0.0:0.5812:0.0	.	.	.	.	X	365	.	ENSP00000299338:S365X	S	-	2	0	C15orf33	47450807	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.243000	0.08915	0.100000	0.17581	-0.143000	0.13931	TCA		0.299	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		6	210	0	0	0	0	6	210				
HERC1	8925	broad.mit.edu	37	15	64067317	64067317	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr15:64067317A>C	ENST00000443617.2	-	2	593	c.506T>G	c.(505-507)tTa>tGa	p.L169*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	169					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AAGCGCAAATAATAAACTTAG	0.448																																						uc002amp.2		NA																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(505-507)TTA>TGA		hect domain and RCC1-like domain 1							222.0	223.0	223.0					15																	64067317		1964	4149	6113	SO:0001587	stop_gained	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64067317A>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.506T>G	15.37:g.64067317A>C	ENSP00000390158:p.Leu169*					HERC1_uc010uil.1_Nonsense_Mutation_p.L169*|HERC1_uc010bgt.1_Nonsense_Mutation_p.L169*|HERC1_uc002amq.1_Nonsense_Mutation_p.L169*	p.L169*	NM_003922	NP_003913	Q15751	HERC1_HUMAN			2	654	-			169					Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	c.506T>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.231542	0.79688	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	.	.	.	5.64	5.64	0.86602	.	0.000000	0.53938	U	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8735	0.79141	1.0:0.0:0.0:0.0	.	.	.	.	X	169	.	ENSP00000389613:L169X	L	-	2	0	HERC1	61854370	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.271000	0.95698	2.149000	0.67028	0.533000	0.62120	TTA		0.448	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		8	378	0	0	0	0	8	378				
PTPLAD1	51495	broad.mit.edu	37	15	65864618	65864618	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr15:65864618G>A	ENST00000261875.5	+	10	1092	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	PTPLAD1_ENST00000566511.1_Missense_Mutation_p.R192Q|snoU13_ENST00000459019.1_RNA|PTPLAD1_ENST00000442729.2_Missense_Mutation_p.R254Q|PTPLAD1_ENST00000565299.1_Missense_Mutation_p.R347Q|PTPLAD1_ENST00000569894.1_Missense_Mutation_p.R192Q|PTPLAD1_ENST00000568793.1_Missense_Mutation_p.R284Q|PTPLAD1_ENST00000562901.1_Missense_Mutation_p.R192Q|PTPLAD1_ENST00000566074.1_Missense_Mutation_p.R192Q	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	309					activation of JUN kinase activity (GO:0007257)|fatty acid biosynthetic process (GO:0006633)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|positive regulation of GTPase activity (GO:0043547)|Rac protein signal transduction (GO:0016601)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)	GTPase activator activity (GO:0005096)|lyase activity (GO:0016829)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GAGACCGGACGATTCAGTTTC	0.318																																						uc002apc.2		NA																	0					0						c.(925-927)CGA>CAA		protein tyrosine phosphatase-like A domain							152.0	138.0	142.0					15																	65864618		1820	4086	5906	SO:0001583	missense	51495				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding	g.chr15:65864618G>A		CCDS45282.1	15q22.2	2005-11-11				ENSG00000074696			24175	protein-coding gene	gene with protein product		615940				10747961, 11042152	Standard	NM_016395		Approved	B-ind1, HSPC121	uc002apc.3	Q9P035		ENST00000261875.5:c.926G>A	15.37:g.65864618G>A	ENSP00000261875:p.Arg309Gln					PTPLAD1_uc002apb.1_RNA|PTPLAD1_uc010uiw.1_Missense_Mutation_p.R254Q	p.R309Q	NM_016395	NP_057479	Q9P035	HACD3_HUMAN			10	1074	+			309			Lumenal (Potential).		A0PJA1|B4DRF4|Q280Z3|Q6PD63|Q8IUI5|Q8NC86|Q8NCB1|Q96T12|Q9NQA7	Missense_Mutation	SNP	ENST00000261875.5	37	c.926G>A	CCDS45282.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194399	0.78902	.	.	ENSG00000074696	ENST00000442729;ENST00000261875	T;T	0.31247	1.5;1.5	6.17	4.29	0.51040	.	0.228582	0.45606	D	0.000347	T	0.44993	0.1320	M	0.70275	2.135	0.46241	D	0.998945	D;P	0.64830	0.994;0.928	P;B	0.58391	0.838;0.37	T	0.10776	-1.0615	10	0.18276	T	0.48	-15.7834	12.2002	0.54321	0.1412:0.0:0.8588:0.0	.	254;309	B4DRF4;Q9P035	.;HACD3_HUMAN	Q	254;309	ENSP00000392491:R254Q;ENSP00000261875:R309Q	ENSP00000261875:R309Q	R	+	2	0	PTPLAD1	63651671	0.945000	0.32115	1.000000	0.80357	0.924000	0.55760	3.183000	0.50918	2.941000	0.99782	0.655000	0.94253	CGA		0.318	PTPLAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419739.1	NM_016395		13	137	0	0	0	0	13	137				
RBFOX1	54715	broad.mit.edu	37	16	7568364	7568364	+	Silent	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr16:7568364C>T	ENST00000550418.1	+	5	1231	c.243C>T	c.(241-243)agC>agT	p.S81S	RBFOX1_ENST00000340209.4_Silent_p.S86S|RBFOX1_ENST00000553186.1_Silent_p.S81S|RBFOX1_ENST00000311745.5_Silent_p.S101S|RBFOX1_ENST00000547372.1_Silent_p.S124S|RBFOX1_ENST00000547338.1_Silent_p.S81S|RBFOX1_ENST00000552089.1_Silent_p.S117S|RBFOX1_ENST00000422070.4_Silent_p.S124S|RBFOX1_ENST00000535565.2_Silent_p.S117S|RBFOX1_ENST00000355637.4_Silent_p.S101S|RBFOX1_ENST00000436368.2_Silent_p.S101S	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	81					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CGGACACGAGCGCTCAGACCG	0.657																																					Ovarian(157;934 2567 15163 39509)	uc002cys.2		NA																	0					0						c.(241-243)AGC>AGT		ataxin 2-binding protein 1 isoform 4							82.0	81.0	81.0					16																	7568364		2197	4300	6497	SO:0001819	synonymous_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568364C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.243C>T	16.37:g.7568364C>T						A2BP1_uc010buf.1_Silent_p.S81S|A2BP1_uc002cyr.1_Silent_p.S81S|A2BP1_uc002cyt.2_Silent_p.S81S|A2BP1_uc010uxz.1_Silent_p.S124S|A2BP1_uc010uya.1_Silent_p.S117S|A2BP1_uc002cyv.1_Silent_p.S81S|A2BP1_uc010uyb.1_Silent_p.S81S|A2BP1_uc002cyw.2_Silent_p.S101S|A2BP1_uc002cyy.2_Silent_p.S101S|A2BP1_uc002cyx.2_Silent_p.S101S|A2BP1_uc010uyc.1_Silent_p.S101S	p.S81S	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)	5	1231	+		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)	81					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	c.243C>T	CCDS55983.1																																																																																				0.657	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		24	100	0	0	0	0	24	100				
CDH11	1009	broad.mit.edu	37	16	65016076	65016076	+	Silent	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr16:65016076A>G	ENST00000268603.4	-	8	1743	c.1128T>C	c.(1126-1128)gaT>gaC	p.D376D	CDH11_ENST00000566827.1_Silent_p.D250D|CDH11_ENST00000394156.3_Silent_p.D376D	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	376	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCTCATCAGCATCTTCTACTG	0.517			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				lung(10)|ovary(3)|skin(1)	14						c.(1126-1128)GAT>GAC		cadherin 11, type 2 preproprotein							171.0	141.0	151.0					16																	65016076		2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65016076A>G	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1128T>C	16.37:g.65016076A>G		TSP Lung(24;0.17)				CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Silent_p.D376D|CDH11_uc010vin.1_Silent_p.D250D|CDH11_uc002eok.1_RNA	p.D376D	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	8	1562	-		Ovarian(137;0.0973)	376			Cadherin 3.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.1128T>C	CCDS10803.1																																																																																				0.517	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		12	129	0	0	0	0	12	129				
FHOD1	29109	broad.mit.edu	37	16	67265094	67265094	+	Silent	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr16:67265094G>A	ENST00000258201.4	-	17	2911	c.2664C>T	c.(2662-2664)gcC>gcT	p.A888A		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	888	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGCTAACCTTGGCACAGCGGG	0.602																																						uc002esl.2		NA																	0				breast(2)|ovary(1)	3						c.(2662-2664)GCC>GCT		formin homology 2 domain containing 1							46.0	42.0	44.0					16																	67265094		2198	4300	6498	SO:0001819	synonymous_variant	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67265094G>A	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2664C>T	16.37:g.67265094G>A						FHOD1_uc002esk.2_5'Flank|FHOD1_uc010ced.2_Silent_p.A695A	p.A888A	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	17	2776	-		Ovarian(137;0.0563)	888			Potential.|FH2.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	ENST00000258201.4	37	c.2664C>T	CCDS10834.1																																																																																				0.602	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			6	43	0	0	0	0	6	43				
CMTR2	55783	broad.mit.edu	37	16	71319616	71319616	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr16:71319616G>C	ENST00000338099.5	-	3	544	c.208C>G	c.(208-210)Cta>Gta	p.L70V	CMTR2_ENST00000434935.2_Missense_Mutation_p.L70V			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	70					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										ACTTCATTTAGGGAGTTCTTC	0.398																																						uc010cga.2		NA																	0				skin(1)	1						c.(208-210)CTA>GTA		FtsJ methyltransferase domain containing 1							102.0	100.0	101.0					16																	71319616		2198	4300	6498	SO:0001583	missense	55783					integral to membrane	methyltransferase activity|nucleic acid binding	g.chr16:71319616G>C	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.208C>G	16.37:g.71319616G>C	ENSP00000337512:p.Leu70Val					FTSJD1_uc002ezy.3_Missense_Mutation_p.L70V|FTSJD1_uc002ezz.3_Missense_Mutation_p.L70V	p.L70V	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN			3	614	-			70					B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	c.208C>G	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216228	0.39201	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.23950	1.88;1.88	5.7	2.35	0.29111	.	0.173390	0.39274	N	0.001407	T	0.33440	0.0863	M	0.78049	2.395	0.36523	D	0.870264	P	0.48294	0.908	P	0.48425	0.577	T	0.39165	-0.9627	10	0.62326	D	0.03	-22.3746	5.9427	0.19201	0.238:0.0:0.5938:0.1682	.	70	Q8IYT2	FTSJ1_HUMAN	V	70	ENSP00000337512:L70V;ENSP00000411148:L70V	ENSP00000337512:L70V	L	-	1	2	FTSJD1	69877117	0.995000	0.38212	0.964000	0.40570	0.986000	0.74619	1.801000	0.38843	0.763000	0.33175	0.655000	0.94253	CTA		0.398	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		29	129	0	0	0	0	29	129				
DYNLRB2	83657	broad.mit.edu	37	16	80583408	80583408	+	Missense_Mutation	SNP	A	A	G	rs374532127		TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr16:80583408A>G	ENST00000305904.6	+	3	227	c.107A>G	c.(106-108)aAc>aGc	p.N36S	RP11-525K10.3_ENST00000568776.1_RNA|DYNLRB2_ENST00000570222.1_3'UTR|RP11-109P11.1_ENST00000568275.1_RNA|DYNLRB2_ENST00000568035.1_Intron|DYNLRB2_ENST00000562982.1_Missense_Mutation_p.N65S	NM_130897.1	NP_570967.1	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2	36					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	cytoplasmic dynein complex (GO:0005868)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			large_intestine(1)|lung(4)|prostate(1)	6						ACCTTGGACAACTCAACAACT	0.358																																						uc002ffo.2		NA																	0					0						c.(106-108)AAC>AGC		dynein, light chain, roadblock-type 2							92.0	76.0	81.0					16																	80583408		2203	4300	6503	SO:0001583	missense	83657				microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity	g.chr16:80583408A>G	AF125108	CCDS10929.1	16q23.3	2008-02-05	2005-11-25	2005-11-25	ENSG00000168589	ENSG00000168589		"""Cytoplasmic dyneins"""	15467	protein-coding gene	gene with protein product	"""roadblock domain containing 2"""	607168	"""dynein, cytoplasmic, light polypeptide 2B"""	DNCL2B		11750132, 16260502	Standard	NM_130897		Approved	DNLC2B, ROBLD2	uc002ffo.3	Q8TF09	OTTHUMG00000137622	ENST00000305904.6:c.107A>G	16.37:g.80583408A>G	ENSP00000302936:p.Asn36Ser					DYNLRB2_uc002ffp.2_RNA|DYNLRB2_uc002ffq.2_RNA	p.N36S	NM_130897	NP_570967	Q8TF09	DLRB2_HUMAN			5	227	+			36						Missense_Mutation	SNP	ENST00000305904.6	37	c.107A>G	CCDS10929.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.555740	0.45487	.	.	ENSG00000168589	ENST00000305904	T	0.23147	1.92	6.01	4.93	0.64822	.	0.050515	0.64402	D	0.000001	T	0.17577	0.0422	.	.	.	0.80722	D	1	B	0.23540	0.087	B	0.27608	0.081	T	0.08146	-1.0736	9	0.18276	T	0.48	.	10.5722	0.45206	0.9245:0.0:0.0755:0.0	.	36	Q8TF09	DLRB2_HUMAN	S	36	ENSP00000302936:N36S	ENSP00000302936:N36S	N	+	2	0	DYNLRB2	79140909	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.288000	0.78691	2.306000	0.77630	0.533000	0.62120	AAC		0.358	DYNLRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269043.1	NM_130897		12	36	0	0	0	0	12	36				
BANP	54971	broad.mit.edu	37	16	88069000	88069000	+	Splice_Site	SNP	G	G	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr16:88069000G>T	ENST00000393207.1	+	10	1460	c.1239G>T	c.(1237-1239)gaG>gaT	p.E413D	BANP_ENST00000393208.2_Splice_Site_p.E385D|BANP_ENST00000355022.4_Splice_Site_p.E385D|BANP_ENST00000355163.5_Splice_Site_p.E391D|BANP_ENST00000479780.2_Splice_Site_p.E382D|BANP_ENST00000538234.1_Splice_Site_p.E424D|BANP_ENST00000286122.7_Splice_Site_p.E413D	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	413	Gln-rich.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		AGGACAGCGAGGTGAGTCAGC	0.632																																						uc002fkr.2		NA																	0					0						c.(1234-1236)GAG>GAT		BTG3 associated nuclear protein isoform b							34.0	27.0	29.0					16																	88069000		2197	4299	6496	SO:0001630	splice_region_variant	54971				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr16:88069000G>T	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1239+1G>T	16.37:g.88069000G>T						BANP_uc002fkp.2_Missense_Mutation_p.E385D|BANP_uc002fkq.2_Missense_Mutation_p.E385D|BANP_uc010vow.1_Missense_Mutation_p.E420D|BANP_uc002fks.3_Missense_Mutation_p.E381D	p.E412D	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.00551)	10	1460	+			413			Gln-rich.		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	ENST00000393207.1	37	c.1236G>T	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381425	0.82792	.	.	ENSG00000172530	ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.66247	0.2770	L	0.33485	1.01	0.58432	D	0.999999	P;P;D;D;D	0.71674	0.824;0.956;0.986;0.974;0.998	B;D;D;D;D	0.80764	0.152;0.931;0.968;0.953;0.994	T	0.61163	-0.7118	9	0.23891	T	0.37	.	17.9042	0.88913	0.0:0.0:1.0:0.0	.	421;382;413;385;385	B4DE54;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;BANP_HUMAN;.;.	D	413;391;381;382;385;385;385;424;413	.	ENSP00000286122:E413D	E	+	3	2	BANP	86626501	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	8.755000	0.91646	2.482000	0.83794	0.462000	0.41574	GAG		0.632	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869	Missense_Mutation	8	16	1	0	0.000274275	0.000298451	8	16				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)CGT>TGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1011	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	39	0	0	0	0	9	39				
TP53	7157	broad.mit.edu	37	17	7578449	7578449	+	Missense_Mutation	SNP	C	C	T	rs193920817		TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr17:7578449C>T	ENST00000269305.4	-	5	670	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	TP53_ENST00000413465.2_Missense_Mutation_p.A161T|TP53_ENST00000455263.2_Missense_Mutation_p.A161T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.A161T|TP53_ENST00000359597.4_Missense_Mutation_p.A161T|TP53_ENST00000420246.2_Missense_Mutation_p.A161T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	161	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A161T(54)|p.0?(8)|p.A68T(3)|p.A29T(3)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.A161fs*20(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTGTAGATGGCCATGGCGCGG	0.632		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		96	Substitution - Missense(63)|Deletion - Frameshift(10)|Deletion - In frame(9)|Whole gene deletion(8)|Complex - frameshift(3)|Insertion - Frameshift(2)|Complex - compound substitution(1)	p.A161T(44)|p.A161D(8)|p.0?(7)|p.A161V(7)|p.A161A(5)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.A161fs*20(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.A161G(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)	lung(15)|large_intestine(13)|urinary_tract(8)|stomach(7)|central_nervous_system(7)|upper_aerodigestive_tract(6)|oesophagus(6)|pancreas(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|bone(4)|liver(4)|breast(3)|ovary(3)|thyroid(1)|meninges(1)|peritoneum(1)|skin(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(481-483)GCC>ACC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							52.0	53.0	53.0					17																	7578449		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578449C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.481G>A	17.37:g.7578449C>T	ENSP00000269305:p.Ala161Thr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.A161T|TP53_uc002gih.2_Missense_Mutation_p.A161T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A29T|TP53_uc010cng.1_Missense_Mutation_p.A29T|TP53_uc002gii.1_Missense_Mutation_p.A29T|TP53_uc010cnh.1_Missense_Mutation_p.A161T|TP53_uc010cni.1_Missense_Mutation_p.A161T|TP53_uc002gij.2_Missense_Mutation_p.A161T|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A68T|TP53_uc002gio.2_Missense_Mutation_p.A29T|TP53_uc010vug.1_Missense_Mutation_p.A122T	p.A161T	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	675	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	161		MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> T (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.481G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048421	0.55110	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99816	-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91	5.59	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99816	0.9919	M	0.86420	2.815	0.50313	D	0.999869	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.998;0.975;0.998;0.999;1.0;1.0	D	0.96744	0.9549	10	0.72032	D	0.01	-25.6622	14.7187	0.69289	0.0:0.8543:0.1457:0.0	.	122;161;161;68;161;161;161	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	161;161;161;161;161;161;150;68;29;68;29;161	ENSP00000410739:A161T;ENSP00000352610:A161T;ENSP00000269305:A161T;ENSP00000398846:A161T;ENSP00000391127:A161T;ENSP00000391478:A161T;ENSP00000425104:A29T;ENSP00000423862:A68T;ENSP00000424104:A161T	ENSP00000269305:A161T	A	-	1	0	TP53	7519174	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	1.014000	0.29950	1.498000	0.48600	0.655000	0.94253	GCC		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	62	0	0	0	0	17	62				
PIK3R5	23533	broad.mit.edu	37	17	8808132	8808132	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr17:8808132T>C	ENST00000447110.1	-	5	498	c.374A>G	c.(373-375)gAg>gGg	p.E125G	PIK3R5_ENST00000581552.1_Missense_Mutation_p.E125G|PIK3R5_ENST00000584803.1_Missense_Mutation_p.E125G	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	125					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGTGAGCAGCTCCTGGCAGAT	0.582																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.2		NA																	0				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(373-375)GAG>GGG		phosphoinositide-3-kinase, regulatory subunit 5							99.0	89.0	92.0					17																	8808132		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8808132T>C	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.374A>G	17.37:g.8808132T>C	ENSP00000392812:p.Glu125Gly					PIK3R5_uc010vuz.1_Missense_Mutation_p.E125G|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Missense_Mutation_p.E125G|PIK3R5_uc010cob.1_5'UTR	p.E125G	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN			5	441	-			125					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.374A>G	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.391986	0.42410	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T;T	0.80994	-1.44;-1.44	4.75	4.75	0.60458	.	0.419859	0.27549	N	0.018868	T	0.75895	0.3912	L	0.27053	0.805	0.39127	D	0.961786	B	0.27765	0.188	B	0.39935	0.314	T	0.77728	-0.2479	10	0.62326	D	0.03	-7.1182	12.8279	0.57731	0.0:0.0:0.0:1.0	.	125	Q8WYR1	PI3R5_HUMAN	G	125	ENSP00000269300:E125G;ENSP00000392812:E125G	ENSP00000269300:E125G	E	-	2	0	PIK3R5	8748857	1.000000	0.71417	0.987000	0.45799	0.964000	0.63967	3.624000	0.54231	1.918000	0.55548	0.524000	0.50904	GAG		0.582	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		28	57	0	0	0	0	28	57				
PIGW	284098	broad.mit.edu	37	17	34893088	34893088	+	Silent	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr17:34893088G>A	ENST00000592983.1	+	2	718	c.138G>A	c.(136-138)ttG>ttA	p.L46L	MYO19_ENST00000268852.9_5'Flank|MYO19_ENST00000431794.3_5'Flank|MYO19_ENST00000590081.1_Intron|MYO19_ENST00000544606.1_5'Flank|PIGW_ENST00000328396.2_Silent_p.L46L|MYO19_ENST00000586007.1_5'Flank			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	46					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CACAGTACTTGTGTTCTTTTT	0.448																																						uc002hmy.1		NA																	0					0						c.(136-138)TTG>TTA		phosphatidylinositol glycan, class W							245.0	220.0	229.0					17																	34893088		2203	4300	6503	SO:0001819	synonymous_variant	284098				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity	g.chr17:34893088G>A	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"""Phosphatidylinositol glycan anchor biosynthesis"""	23213	protein-coding gene	gene with protein product		610275	"""phosphatidylinositol glycan, class W"""			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.138G>A	17.37:g.34893088G>A						MYO19_uc002hmw.2_5'Flank|MYO19_uc010cuu.2_5'Flank|MYO19_uc010wcy.1_5'Flank|MYO19_uc010wcz.1_5'Flank|MYO19_uc010wda.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Silent_p.L46L	p.L46L	NM_178517	NP_848612	Q7Z7B1	PIGW_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	181	+		Breast(25;0.00957)|Ovarian(249;0.17)	46					Q8N9G3	Silent	SNP	ENST00000592983.1	37	c.138G>A	CCDS11313.1																																																																																				0.448	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	NM_178517		8	246	0	0	0	0	8	246				
ST6GALNAC2	10610	broad.mit.edu	37	17	74563605	74563605	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr17:74563605T>C	ENST00000225276.5	-	8	1206	c.887A>G	c.(886-888)cAt>cGt	p.H296R	RP11-666A8.9_ENST00000588104.1_RNA	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	296					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GTCTCCAAAATGTGTGTTAAT	0.443																																						uc002jsg.3		NA																	0					0						c.(886-888)CAT>CGT		sialyltransferase 7B							116.0	110.0	112.0					17																	74563605		2202	4300	6502	SO:0001583	missense	10610				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr17:74563605T>C	U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"""Sialyltransferases"""	10867	protein-coding gene	gene with protein product		610137	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"", ""sialyltransferase-like 1"""	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.887A>G	17.37:g.74563605T>C	ENSP00000225276:p.His296Arg						p.H296R	NM_006456	NP_006447	Q9UJ37	SIA7B_HUMAN			8	1142	-			296			Lumenal (Potential).		Q12971	Missense_Mutation	SNP	ENST00000225276.5	37	c.887A>G	CCDS11747.1	.	.	.	.	.	.	.	.	.	.	T	4.199	0.035621	0.08148	.	.	ENSG00000070731	ENST00000225276	T	0.31769	1.48	5.42	1.99	0.26369	.	1.282120	0.05141	N	0.494214	T	0.10121	0.0248	N	0.01003	-1.06	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29792	-1.0000	10	0.09338	T	0.73	0.3145	5.9785	0.19393	0.0:0.1338:0.145:0.7212	.	296	Q9UJ37	SIA7B_HUMAN	R	296	ENSP00000225276:H296R	ENSP00000225276:H296R	H	-	2	0	ST6GALNAC2	72075200	0.000000	0.05858	0.000000	0.03702	0.609000	0.37215	-0.154000	0.10130	0.069000	0.16605	0.528000	0.53228	CAT		0.443	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	NM_006456		12	51	0	0	0	0	12	51				
MYOM1	8736	broad.mit.edu	37	18	3067467	3067467	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr18:3067467G>C	ENST00000356443.4	-	38	5184	c.4851C>G	c.(4849-4851)gaC>gaG	p.D1617E	MYOM1_ENST00000261606.7_Missense_Mutation_p.D1521E|MYOM1_ENST00000400569.3_Missense_Mutation_p.D1617E	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1617	Ig-like C2-type 5.			D -> G (in Ref. 2; BAC86128). {ECO:0000305}.	muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGTTGCAGTGGTCGTCTGAGG	0.587																																						uc002klp.2		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(4849-4851)GAC>GAG		myomesin 1 isoform a							62.0	67.0	65.0					18																	3067467		2203	4299	6502	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3067467G>C	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4851C>G	18.37:g.3067467G>C	ENSP00000348821:p.Asp1617Glu					MYOM1_uc002klq.2_Missense_Mutation_p.D1521E	p.D1617E	NM_003803	NP_003794	P52179	MYOM1_HUMAN			38	5185	-			1617	D -> G (in Ref. 2; BAC86128).		Ig-like C2-type 5.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.4851C>G	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	7.644	0.681453	0.14907	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.40756	1.02;1.02;1.02	5.79	-1.76	0.08006	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.501226	0.23551	N	0.046970	T	0.19208	0.0461	N	0.20530	0.585	0.29902	N	0.824349	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33214	-0.9877	10	0.07482	T	0.82	.	8.1292	0.31016	0.2823:0.3751:0.3426:0.0	.	1521;1617	P52179-2;P52179	.;MYOM1_HUMAN	E	1617;1617;1521	ENSP00000348821:D1617E;ENSP00000383413:D1617E;ENSP00000261606:D1521E	ENSP00000261606:D1521E	D	-	3	2	MYOM1	3057467	0.831000	0.29352	0.858000	0.33744	0.256000	0.26092	-0.119000	0.10676	0.079000	0.16929	0.655000	0.94253	GAC		0.587	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		472	22	0	0	0	0	472	22				
SPIRE1	56907	broad.mit.edu	37	18	12493083	12493083	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr18:12493083G>A	ENST00000409402.4	-	8	1444	c.1177C>T	c.(1177-1179)Cgt>Tgt	p.R393C	SPIRE1_ENST00000410092.3_Missense_Mutation_p.R393C|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000383356.2_Missense_Mutation_p.R234C|SPIRE1_ENST00000309836.5_Missense_Mutation_p.R196C|SPIRE1_ENST00000453447.2_Missense_Mutation_p.R273C	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						AATCTGCTACGTCTAATCTCC	0.468																																						uc002kre.2		NA																	0					0						c.(1177-1179)CGT>TGT		spire homolog 1 isoform a							106.0	99.0	101.0					18																	12493083		2203	4300	6503	SO:0001583	missense	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12493083G>A	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1177C>T	18.37:g.12493083G>A	ENSP00000387266:p.Arg393Cys					SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.R273C|SPIRE1_uc010wzx.1_Missense_Mutation_p.R196C|SPIRE1_uc010wzy.1_Missense_Mutation_p.R393C	p.R393C	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN			8	1224	-			393						Missense_Mutation	SNP	ENST00000409402.4	37	c.1177C>T	CCDS45829.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763701	0.69878	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356	T;T;T;T;T	0.49720	0.78;1.4;1.35;0.77;0.77	5.09	4.15	0.48705	.	0.149707	0.56097	D	0.000028	T	0.59932	0.2230	L	0.57536	1.79	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.972;0.998	P;P;P	0.59424	0.857;0.655;0.627	T	0.62826	-0.6772	10	0.56958	D	0.05	-8.5433	14.6788	0.69001	0.0:0.0:0.8543:0.1457	.	393;196;393	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	C	273;393;393;196;234	ENSP00000407050:R273C;ENSP00000387266:R393C;ENSP00000387226:R393C;ENSP00000309661:R196C;ENSP00000372847:R234C	ENSP00000309661:R196C	R	-	1	0	SPIRE1	12483083	1.000000	0.71417	0.968000	0.41197	0.901000	0.52897	2.977000	0.49297	2.529000	0.85273	0.650000	0.86243	CGT		0.468	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		18	37	0	0	0	0	18	37				
SALL3	27164	broad.mit.edu	37	18	76754699	76754699	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr18:76754699A>G	ENST00000537592.2	+	2	2708	c.2708A>G	c.(2707-2709)cAg>cGg	p.Q903R	SALL3_ENST00000536229.3_Missense_Mutation_p.Q770R|SALL3_ENST00000575389.2_Missense_Mutation_p.Q903R	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	903					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCGTCCTCGCAGGCCCTGTCG	0.726																																						uc002lmt.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(2707-2709)CAG>CGG		sal-like 3							9.0	12.0	11.0					18																	76754699		2011	3960	5971	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754699A>G	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2708A>G	18.37:g.76754699A>G	ENSP00000441823:p.Gln903Arg					SALL3_uc010dra.2_Missense_Mutation_p.Q510R	p.Q903R	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	2708	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	903					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.2708A>G	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	A	6.654	0.489198	0.12641	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.10668	2.85	5.49	1.86	0.25419	.	0.110691	0.39274	N	0.001407	T	0.08537	0.0212	L	0.40543	1.245	0.45762	D	0.99865	B;B	0.19331	0.035;0.007	B;B	0.12837	0.008;0.004	T	0.22626	-1.0211	10	0.30078	T	0.28	-21.5756	8.9206	0.35610	0.7876:0.0:0.2124:0.0	.	635;903	F5GXY4;Q9BXA9	.;SALL3_HUMAN	R	903;903;635	ENSP00000441823:Q903R	ENSP00000299466:Q903R	Q	+	2	0	SALL3	74855687	1.000000	0.71417	0.998000	0.56505	0.189000	0.23516	2.618000	0.46393	0.382000	0.24878	0.459000	0.35465	CAG		0.726	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		4	10	0	0	0	0	4	10				
PDE4C	5143	broad.mit.edu	37	19	18322001	18322001	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr19:18322001G>A	ENST00000355502.3	-	19	2748	c.1877C>T	c.(1876-1878)aCg>aTg	p.T626M	PDE4C_ENST00000597297.1_Missense_Mutation_p.T396M|PDE4C_ENST00000594617.3_Missense_Mutation_p.T626M|PDE4C_ENST00000598111.2_Missense_Mutation_p.T341M|PDE4C_ENST00000539010.1_Missense_Mutation_p.T395M|PDE4C_ENST00000594465.3_Missense_Mutation_p.T626M|AC068499.10_ENST00000599416.2_RNA|PDE4C_ENST00000447275.3_Missense_Mutation_p.T520M|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000262805.12_Missense_Mutation_p.T594M			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	626					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GTCCTCCAGCGTGTCCAGCAG	0.597																																						uc010xqc.1		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1876-1878)ACG>ATG		phosphodiesterase 4C isoform PDE4C-2	Dyphylline(DB00651)						127.0	99.0	108.0					19																	18322001		2203	4300	6503	SO:0001583	missense	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18322001G>A		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1877C>T	19.37:g.18322001G>A	ENSP00000347689:p.Thr626Met					PDE4C_uc002nik.3_Missense_Mutation_p.T626M|PDE4C_uc002nil.3_Missense_Mutation_p.T626M|PDE4C_uc002nif.3_Missense_Mutation_p.T395M|PDE4C_uc002nig.3_Missense_Mutation_p.T341M|PDE4C_uc002nih.3_Missense_Mutation_p.T396M|PDE4C_uc010ebk.2_Missense_Mutation_p.T520M|PDE4C_uc002nii.3_Missense_Mutation_p.T594M|PDE4C_uc010ebl.2_Missense_Mutation_p.T340M	p.T626M	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN			15	2357	-			626					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	c.1877C>T	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100332	0.76983	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	3.91	3.91	0.45181	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	L	0.47716	1.5	0.49389	D	0.999787	D;D;D;D	0.89917	1.0;0.991;1.0;1.0	D;P;D;D	0.97110	1.0;0.448;0.963;0.998	T	0.80402	-0.1397	10	0.62326	D	0.03	.	13.4638	0.61241	0.0:0.0:1.0:0.0	.	626;594;432;341	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	M	705;626;614;594;520;432;340;395;735	ENSP00000347689:T626M;ENSP00000262805:T594M;ENSP00000402091:T520M;ENSP00000439470:T395M	ENSP00000262805:T594M	T	-	2	0	PDE4C	18183001	1.000000	0.71417	0.508000	0.27688	0.870000	0.49936	7.544000	0.82117	2.028000	0.59812	0.561000	0.74099	ACG		0.597	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			7	108	0	0	0	0	7	108				
ZNF536	9745	broad.mit.edu	37	19	31040060	31040060	+	Silent	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr19:31040060C>T	ENST00000355537.3	+	4	3681	c.3534C>T	c.(3532-3534)aaC>aaT	p.N1178N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1178					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGAGAACAACGATGAAGAGG	0.552																																						uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(3532-3534)AAC>AAT		zinc finger protein 536							71.0	72.0	72.0					19																	31040060		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31040060C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3534C>T	19.37:g.31040060C>T						ZNF536_uc010edd.1_Silent_p.N1178N	p.N1178N	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3672	+	Esophageal squamous(110;0.0834)		1178					A2RU18	Silent	SNP	ENST00000355537.3	37	c.3534C>T	CCDS32984.1																																																																																				0.552	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		15	44	0	0	0	0	15	44				
SPRED3	399473	broad.mit.edu	37	19	38882740	38882740	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr19:38882740C>A	ENST00000338502.4	+	2	435	c.332C>A	c.(331-333)gCc>gAc	p.A111D	SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000586301.1_Missense_Mutation_p.A111D|SPRED3_ENST00000587013.1_Missense_Mutation_p.A155D	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	111	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCTGCGCTGGCCGCACTGGGT	0.607																																						uc002oim.2		NA																	0				central_nervous_system(2)|lung(1)|skin(1)	4						c.(331-333)GCC>GAC		sprouty-related, EVH1 domain containing 3							82.0	89.0	86.0					19																	38882740		2051	4189	6240	SO:0001583	missense	399473				multicellular organismal development			g.chr19:38882740C>A		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.332C>A	19.37:g.38882740C>A	ENSP00000345405:p.Ala111Asp					SPRED3_uc002oil.1_Missense_Mutation_p.A111D	p.A111D	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		2	336	+	all_cancers(60;3.4e-06)		111			WH1.		Q2MJR1	Missense_Mutation	SNP	ENST00000338502.4	37	c.332C>A	CCDS42560.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438852	0.43326	.	.	ENSG00000188766	ENST00000338502;ENST00000396877	D	0.85258	-1.96	3.74	3.74	0.42951	EVH1 (1);Pleckstrin homology-type (1);	0.381500	0.24236	N	0.040311	T	0.60830	0.2299	N	0.01134	-0.995	0.32164	N	0.582564	B;B	0.12630	0.001;0.006	B;B	0.09377	0.002;0.004	T	0.63906	-0.6531	10	0.42905	T	0.14	-3.7349	8.965	0.35872	0.2217:0.7783:0.0:0.0	.	111;111	Q2MJR0;Q2MJR1	SPRE3_HUMAN;.	D	111	ENSP00000345405:A111D	ENSP00000345405:A111D	A	+	2	0	SPRED3	43574580	1.000000	0.71417	0.985000	0.45067	0.951000	0.60555	5.424000	0.66464	1.823000	0.53134	0.462000	0.41574	GCC		0.607	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		39	88	1	0	4.92e-23	5.72e-23	39	88				
FPR1	2357	broad.mit.edu	37	19	52249293	52249293	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr19:52249293T>C	ENST00000595042.1	-	3	1096	c.955A>G	c.(955-957)Agt>Ggt	p.S319G	FPR1_ENST00000304748.4_Missense_Mutation_p.S319G	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	319					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CTCTCCAGACTGGCGGGAAGG	0.567																																						uc002pxq.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(955-957)AGT>GGT		formyl peptide receptor 1	Nedocromil(DB00716)						106.0	101.0	103.0					19																	52249293		2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249293T>C	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.955A>G	19.37:g.52249293T>C	ENSP00000471493:p.Ser319Gly						p.S319G	NM_002029	NP_002020	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	2	1050	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	319			Cytoplasmic (Potential).		Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.955A>G	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	8.056	0.766979	0.15983	.	.	ENSG00000171051	ENST00000304748	T	0.36699	1.24	3.55	2.52	0.30459	.	0.410761	0.22961	N	0.053546	T	0.28566	0.0707	L	0.61036	1.89	0.25376	N	0.988654	B	0.14805	0.011	B	0.20384	0.029	T	0.10847	-1.0612	10	0.18710	T	0.47	.	4.1721	0.10334	0.0:0.2621:0.0:0.7379	.	319	P21462	FPR1_HUMAN	G	319	ENSP00000302707:S319G	ENSP00000302707:S319G	S	-	1	0	FPR1	56941105	0.004000	0.15560	1.000000	0.80357	0.166000	0.22503	1.303000	0.33470	1.553000	0.49476	0.528000	0.53228	AGT		0.567	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		8	98	0	0	0	0	8	98				
ZNF471	57573	broad.mit.edu	37	19	57027646	57027646	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr19:57027646C>G	ENST00000308031.5	+	3	169	c.36C>G	c.(34-36)gaC>gaG	p.D12E	ZNF471_ENST00000591537.1_Missense_Mutation_p.D12E|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CACTTCAGGACTTAGTGACAT	0.398																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	uc002qnh.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(34-36)GAC>GAG		zinc finger protein 471							111.0	102.0	105.0					19																	57027646		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57027646C>G	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.36C>G	19.37:g.57027646C>G	ENSP00000309161:p.Asp12Glu						p.D12E	NM_020813	NP_065864	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	3	169	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	12					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.36C>G	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.642824	0.00792	.	.	ENSG00000196263	ENST00000308031	T	0.00745	5.75	3.77	-0.0145	0.13980	Krueppel-associated box (1);	.	.	.	.	T	0.00384	0.0012	N	0.04162	-0.26	0.09310	N	1	B	0.21452	0.056	B	0.15870	0.014	T	0.43376	-0.9395	9	0.02654	T	1	.	4.2248	0.10575	0.0:0.3999:0.3762:0.2239	.	12	Q9BX82	ZN471_HUMAN	E	12	ENSP00000309161:D12E	ENSP00000309161:D12E	D	+	3	2	ZNF471	61719458	0.001000	0.12720	0.030000	0.17652	0.524000	0.34500	0.034000	0.13776	0.348000	0.23949	0.650000	0.86243	GAC		0.398	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		27	90	0	0	0	0	27	90				
ERCC3	2071	broad.mit.edu	37	2	128046972	128046972	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:128046972T>C	ENST00000285398.2	-	6	857	c.763A>G	c.(763-765)Atg>Gtg	p.M255V	ERCC3_ENST00000493187.2_Missense_Mutation_p.M191V	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	255					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)		TCCTTGTCCATTTGCTCATAG	0.478			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002toh.1		NA	yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	Mis|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		skin basal cell|skin squamous cell|melanoma			0				ovary(2)|lung(2)|breast(2)|kidney(1)	7						c.(763-765)ATG>GTG	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							84.0	77.0	79.0					2																	128046972		2203	4300	6503	SO:0001583	missense	2071	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128046972T>C	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.763A>G	2.37:g.128046972T>C	ENSP00000285398:p.Met255Val					ERCC3_uc002toe.1_Missense_Mutation_p.M10V|ERCC3_uc002tof.1_Missense_Mutation_p.M191V|ERCC3_uc002tog.1_Missense_Mutation_p.M191V|ERCC3_uc010flx.1_Missense_Mutation_p.M10V|ERCC3_uc010yzh.1_RNA	p.M255V	NM_000122	NP_000113	P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	6	858	-	Colorectal(110;0.1)		255					Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	c.763A>G	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.014520	0.35511	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.61859	0.07;0.08	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.35128	0.0921	N	0.03253	-0.375	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.20907	-1.0261	10	0.20519	T	0.43	-37.4163	16.0677	0.80897	0.0:0.0:0.0:1.0	.	255	P19447	ERCC3_HUMAN	V	255;191	ENSP00000285398:M255V;ENSP00000444796:M191V	ENSP00000285398:M255V	M	-	1	0	ERCC3	127763442	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.767000	0.68850	2.201000	0.70794	0.533000	0.62120	ATG		0.478	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		16	60	0	0	0	0	16	60				
NCKAP5	344148	broad.mit.edu	37	2	133538710	133538710	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:133538710A>G	ENST00000409261.1	-	15	5337	c.4964T>C	c.(4963-4965)cTc>cCc	p.L1655P	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000317721.6_Missense_Mutation_p.L1655P	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1655										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTGCCGATGAGACAGGAGCC	0.458																																						uc002ttp.2		NA																	0					0						c.(4963-4965)CTC>CCC		Nck-associated protein 5 isoform 1							100.0	104.0	103.0					2																	133538710		1915	4128	6043	SO:0001583	missense	344148						protein binding	g.chr2:133538710A>G	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4964T>C	2.37:g.133538710A>G	ENSP00000387128:p.Leu1655Pro					NCKAP5_uc002ttq.2_Intron	p.L1655P	NM_207363	NP_997246	O14513	NCKP5_HUMAN			15	5338	-			1655					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.4964T>C	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	A	11.39	1.625641	0.28889	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10860	2.83;2.83	5.35	2.95	0.34219	.	0.287773	0.17972	U	0.155804	T	0.15046	0.0363	N	0.24115	0.695	0.80722	D	1	D	0.61080	0.989	D	0.63192	0.912	T	0.03619	-1.1019	10	0.66056	D	0.02	.	7.0699	0.25173	0.7771:0.1481:0.0748:0.0	.	1655	O14513	NCKP5_HUMAN	P	1655	ENSP00000387128:L1655P;ENSP00000380603:L1655P	ENSP00000380603:L1655P	L	-	2	0	NCKAP5	133255180	1.000000	0.71417	0.288000	0.24862	0.261000	0.26267	3.883000	0.56168	0.463000	0.27118	0.533000	0.62120	CTC		0.458	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		7	41	0	0	0	0	7	41				
ITGB6	3694	broad.mit.edu	37	2	161052924	161052924	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:161052924G>A	ENST00000283249.2	-	3	386	c.149C>T	c.(148-150)aCt>aTt	p.T50I	ITGB6_ENST00000409872.1_Missense_Mutation_p.T50I|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Missense_Mutation_p.T8I|ITGB6_ENST00000409967.2_Missense_Mutation_p.T50I	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	50					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AGATGGATGAGTAAAATTCTA	0.333																																						uc002ubh.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(148-150)ACT>ATT		integrin, beta 6 precursor							81.0	90.0	87.0					2																	161052924		2201	4299	6500	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:161052924G>A		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.149C>T	2.37:g.161052924G>A	ENSP00000283249:p.Thr50Ile					ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Missense_Mutation_p.T50I|ITGB6_uc010zcq.1_Missense_Mutation_p.T8I|ITGB6_uc010fov.1_Missense_Mutation_p.T50I	p.T50I	NM_000888	NP_000879	P18564	ITB6_HUMAN			3	165	-			50			Extracellular (Potential).		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.149C>T	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012433	0.75046	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09	5.88	5.88	0.94601	Integrin beta subunit, N-terminal (2);	0.049597	0.85682	D	0.000000	D	0.94361	0.8187	L	0.41492	1.28	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92788	0.6246	10	0.33940	T	0.23	.	20.2187	0.98312	0.0:0.0:1.0:0.0	.	8;50	E9PEE8;P18564	.;ITB6_HUMAN	I	50;8;50;50	ENSP00000283249:T50I;ENSP00000408024:T8I;ENSP00000386828:T50I;ENSP00000386367:T50I	ENSP00000283249:T50I	T	-	2	0	ITGB6	160761170	1.000000	0.71417	0.993000	0.49108	0.874000	0.50279	8.721000	0.91446	2.780000	0.95670	0.655000	0.94253	ACT		0.333	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		55	142	0	0	0	0	55	142				
ITGA6	3655	broad.mit.edu	37	2	173352098	173352098	+	Missense_Mutation	SNP	G	G	A	rs371857011		TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:173352098G>A	ENST00000264106.6	+	16	2397	c.2194G>A	c.(2194-2196)Gat>Aat	p.D732N	ITGA6_ENST00000375221.2_Missense_Mutation_p.D732N|ITGA6_ENST00000264107.7_Missense_Mutation_p.D693N|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Missense_Mutation_p.D574N|ITGA6_ENST00000343713.4_Missense_Mutation_p.D688N|ITGA6_ENST00000409080.1_Missense_Mutation_p.D693N			P23229	ITA6_HUMAN	integrin, alpha 6	732					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)			AAAAGATGGCGATGACGCCCA	0.418																																						uc002uhp.1		NA																	0				ovary(1)|lung(1)	2						c.(2077-2079)GAT>AAT		integrin alpha chain, alpha 6 isoform a		G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	79.0	80.0	80.0		2077,2077	5.5	0.7	2		80	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ITGA6	NM_000210.2,NM_001079818.1	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	693/1074,693/1092	173352098	1,13005	2203	4300	6503	SO:0001583	missense	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173352098G>A		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.2194G>A	2.37:g.173352098G>A	ENSP00000264106:p.Asp732Asn					ITGA6_uc010zdy.1_Missense_Mutation_p.D574N|ITGA6_uc002uho.1_Missense_Mutation_p.D693N|ITGA6_uc010fqm.1_Missense_Mutation_p.D339N	p.D693N	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		15	2280	+			732			Extracellular (Potential).		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.2077G>A		.	.	.	.	.	.	.	.	.	.	G	23.6	4.433782	0.83776	0.0	1.16E-4	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.51	5.51	0.81932	.	0.151083	0.64402	D	0.000012	T	0.65322	0.2680	M	0.82630	2.6	0.80722	D	1	P;D;P;P	0.57899	0.815;0.981;0.921;0.921	B;P;P;B	0.51324	0.22;0.666;0.46;0.392	T	0.72093	-0.4394	10	0.87932	D	0	.	19.4297	0.94759	0.0:0.0:1.0:0.0	.	688;732;693;693	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	N	574;693;732;732;688;693;732;688	ENSP00000386614:D574N;ENSP00000264107:D693N;ENSP00000264106:D732N;ENSP00000364369:D732N;ENSP00000341078:D688N;ENSP00000386896:D693N;ENSP00000406694:D732N;ENSP00000394169:D688N	ENSP00000264106:D732N	D	+	1	0	ITGA6	173060344	1.000000	0.71417	0.727000	0.30756	0.928000	0.56348	7.195000	0.77798	2.573000	0.86826	0.655000	0.94253	GAT		0.418	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				28	62	0	0	0	0	28	62				
TTN	7273	broad.mit.edu	37	2	179582331	179582331	+	Missense_Mutation	SNP	G	G	T	rs370668637		TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:179582331G>T	ENST00000591111.1	-	85	24543	c.24319C>A	c.(24319-24321)Cag>Aag	p.Q8107K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.Q8424K|TTN_ENST00000342992.6_Missense_Mutation_p.Q7180K|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12298	Ig-like 63.				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)			ATGTGGCTCTGGTCAGTTTGT	0.423																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(21538-21540)CAG>AAG		titin isoform N2-A							74.0	76.0	75.0					2																	179582331		1879	4117	5996	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179582331G>T	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.24319C>A	2.37:g.179582331G>T	ENSP00000465570:p.Gln8107Lys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q3841K	p.Q7180K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		84	21762	-			8107					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	ENST00000591111.1	37	c.21538C>A		.	.	.	.	.	.	.	.	.	.	G	8.353	0.831279	0.16820	.	.	ENSG00000155657	ENST00000342992	T	0.27890	1.64	5.51	4.51	0.55191	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.12305	0.0299	N	0.01817	-0.705	0.58432	D	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.07558	-1.0766	9	0.87932	D	0	.	8.0111	0.30353	0.0:0.1203:0.5977:0.2821	.	8107	Q8WZ42	TITIN_HUMAN	K	7180	ENSP00000343764:Q7180K	ENSP00000343764:Q7180K	Q	-	1	0	TTN	179290576	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.279000	0.33191	2.738000	0.93877	0.655000	0.94253	CAG		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	33	1	0	4.69e-08	5.3e-08	11	33				
ZC3H15	55854	broad.mit.edu	37	2	187366146	187366146	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:187366146G>C	ENST00000337859.6	+	4	663	c.436G>C	c.(436-438)Gaa>Caa	p.E146Q	ZC3H15_ENST00000468120.1_3'UTR|ZC3H15_ENST00000544130.1_Intron	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	146					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TGAAGAACTTGAAAAAGGTAA	0.299																																						uc002upo.2		NA																	0				skin(1)	1						c.(436-438)GAA>CAA		erythropoietin 4 immediate early response							71.0	73.0	72.0					2																	187366146		1808	4065	5873	SO:0001583	missense	55854					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	g.chr2:187366146G>C		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.436G>C	2.37:g.187366146G>C	ENSP00000338788:p.Glu146Gln						p.E146Q	NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		4	661	+			146					B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	ENST00000337859.6	37	c.436G>C	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	G	35	5.464856	0.96257	.	.	ENSG00000065548	ENST00000337859;ENST00000536434	T	0.35973	1.28	5.94	5.94	0.96194	.	0.044398	0.85682	D	0.000000	T	0.58409	0.2120	M	0.72894	2.215	0.80722	D	1	D	0.69078	0.997	P	0.58520	0.84	T	0.58584	-0.7611	10	0.66056	D	0.02	-18.8186	20.3736	0.98901	0.0:0.0:1.0:0.0	.	146	Q8WU90	ZC3HF_HUMAN	Q	146	ENSP00000338788:E146Q	ENSP00000338788:E146Q	E	+	1	0	ZC3H15	187074391	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.496000	0.97967	2.820000	0.97059	0.650000	0.86243	GAA		0.299	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471		4	82	0	0	0	0	4	82				
PAX3	5077	broad.mit.edu	37	2	223161786	223161786	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:223161786C>T	ENST00000350526.4	-	2	368	c.232G>A	c.(232-234)Gtg>Atg	p.V78M	PAX3_ENST00000392070.2_Missense_Mutation_p.V78M|PAX3_ENST00000344493.4_Missense_Mutation_p.V78M|CCDC140_ENST00000295226.1_5'Flank|PAX3_ENST00000258387.5_Missense_Mutation_p.V78M|PAX3_ENST00000409551.3_Missense_Mutation_p.V78M|PAX3_ENST00000409828.3_Missense_Mutation_p.V78M|PAX3_ENST00000392069.2_Missense_Mutation_p.V78M|PAX3_ENST00000336840.6_Missense_Mutation_p.V78M	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	78	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.		V -> M (in WS1). {ECO:0000269|PubMed:8589691}.		apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTGGGACACGCGCAGCTGG	0.652			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															uc010fwo.2		NA		Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	FOXO1A|NCOA1		alveolar rhabdomyosarcoma	PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	0				soft_tissue(761)|ovary(4)|skin(1)	766	GRCh37	CM950899	PAX3	M		c.(232-234)GTG>ATG		paired box 3 isoform PAX3							40.0	36.0	38.0					2																	223161786		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223161786C>T		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.232G>A	2.37:g.223161786C>T	ENSP00000343052:p.Val78Met					PAX3_uc002vmt.1_Missense_Mutation_p.V78M|PAX3_uc002vmy.1_Missense_Mutation_p.V78M|PAX3_uc002vmv.1_Missense_Mutation_p.V78M|PAX3_uc002vmw.1_Missense_Mutation_p.V78M|PAX3_uc002vmx.1_Missense_Mutation_p.V78M|PAX3_uc002vmz.1_Missense_Mutation_p.V78M|PAX3_uc002vna.1_Missense_Mutation_p.V78M|CCDC140_uc002vnb.1_5'Flank	p.V78M	NM_181457	NP_852122	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	598	-		Renal(207;0.0183)	78		V -> M (in WS1).	Paired.		G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.232G>A	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211448	0.95069	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000409828;ENST00000258387	D;D;D;D;D;D;D;D	0.99578	-6.21;-6.21;-6.21;-6.21;-6.21;-6.21;-6.21;-6.21	5.24	5.24	0.73138	Paired box protein, N-terminal (5);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99809	0.9917	H	0.97682	4.055	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.999;1.0;0.999	D	0.96791	0.9582	10	0.87932	D	0	.	18.8156	0.92076	0.0:1.0:0.0:0.0	.	78;78;78;78;78;78;78	P23760;P23760-2;P23760-3;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.;.;.	M	78	ENSP00000375921:V78M;ENSP00000342092:V78M;ENSP00000343052:V78M;ENSP00000375922:V78M;ENSP00000338767:V78M;ENSP00000386750:V78M;ENSP00000386817:V78M;ENSP00000258387:V78M	ENSP00000258387:V78M	V	-	1	0	PAX3	222870030	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	7.814000	0.86154	2.426000	0.82243	0.655000	0.94253	GTG		0.652	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			3	36	0	0	0	0	3	36				
PLCB4	5332	broad.mit.edu	37	20	9388620	9388620	+	Silent	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr20:9388620T>C	ENST00000378493.1	+	18	1683	c.1668T>C	c.(1666-1668)ggT>ggC	p.G556G	PLCB4_ENST00000278655.4_Silent_p.G556G|PLCB4_ENST00000334005.3_Silent_p.G556G|PLCB4_ENST00000414679.2_Silent_p.G568G|PLCB4_ENST00000378473.3_Silent_p.G568G|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Silent_p.G556G			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	556					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AATATGTAGGTGCTACCACTA	0.423																																						uc002wnf.2		NA																	0				skin(11)|ovary(3)|pancreas(1)	15						c.(1666-1668)GGT>GGC		phospholipase C beta 4 isoform b							171.0	157.0	162.0					20																	9388620		2203	4300	6503	SO:0001819	synonymous_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9388620T>C		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1668T>C	20.37:g.9388620T>C						PLCB4_uc010gbw.1_Silent_p.G556G|PLCB4_uc010gbx.2_Silent_p.G568G|PLCB4_uc002wne.2_Silent_p.G556G|PLCB4_uc002wnh.2_Silent_p.G403G	p.G556G	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			20	1804	+			556					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	c.1668T>C	CCDS13105.1																																																																																				0.423	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			44	130	0	0	0	0	44	130				
FLRT3	23767	broad.mit.edu	37	20	14306474	14306474	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr20:14306474G>A	ENST00000378053.3	-	2	1935	c.1679C>T	c.(1678-1680)tCa>tTa	p.S560L	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.S560L|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	560					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		ACAGTTCCTTGAGAAGAGCGA	0.468																																						uc002wov.1		NA																	0				kidney(1)	1						c.(1678-1680)TCA>TTA		fibronectin leucine rich transmembrane protein 3							150.0	137.0	141.0					20																	14306474		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14306474G>A	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1679C>T	20.37:g.14306474G>A	ENSP00000367292:p.Ser560Leu					MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.S560L	p.S560L	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	3	2146	-		Colorectal(1;0.0464)	560			Cytoplasmic (Potential).		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.1679C>T	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.142106	0.57044	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.64438	-0.1;-0.1	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.70378	0.3217	L	0.42245	1.32	0.80722	D	1	D	0.55605	0.972	P	0.54664	0.758	T	0.71371	-0.4613	10	0.87932	D	0	-10.4485	20.4581	0.99154	0.0:0.0:1.0:0.0	.	560	Q9NZU0	FLRT3_HUMAN	L	560	ENSP00000367292:S560L;ENSP00000339912:S560L	ENSP00000339912:S560L	S	-	2	0	FLRT3	14254474	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.869000	0.99810	2.835000	0.97688	0.650000	0.86243	TCA		0.468	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		57	117	0	0	0	0	57	117				
KIZ-AS1	101929591	broad.mit.edu	37	20	21143678	21143678	+	RNA	SNP	C	C	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr20:21143678C>A	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							GAATAGAGGCCTTAAAATTAA	0.408																																						uc002wsb.2		NA																	0					0						c.(1228-1230)GCC>GCA		polo-like kinase 1 substrate 1 isoform 1							82.0	82.0	82.0					20																	21143678		1930	4144	6074			55857				spindle organization	centrosome	protein kinase binding	g.chr20:21143678C>A																													20.37:g.21143678C>A						PLK1S1_uc010zsh.1_Silent_p.A307A|PLK1S1_uc010zsi.1_Silent_p.A277A|PLK1S1_uc010zsj.1_RNA|uc002wsc.2_Intron|PLK1S1_uc002wsd.2_RNA	p.A410A	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN			6	1363	+			410						Silent	SNP	ENST00000591761.1	37	c.1230C>A																																																																																					0.408	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			20	39	1	0	5.35e-07	6.01e-07	20	39				
PYGB	5834	broad.mit.edu	37	20	25276260	25276260	+	Missense_Mutation	SNP	A	A	G	rs199953270		TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr20:25276260A>G	ENST00000216962.4	+	19	2443	c.2333A>G	c.(2332-2334)tAt>tGt	p.Y778C	ABHD12_ENST00000376542.3_Intron|PYGB_ENST00000471359.1_3'UTR	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	778					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						TTTGCAGACTATGAAGCCTAC	0.632																																						uc002wup.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(2332-2334)TAT>TGT		brain glycogen phosphorylase	Pyridoxal Phosphate(DB00114)						84.0	81.0	82.0					20																	25276260		2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25276260A>G		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.2333A>G	20.37:g.25276260A>G	ENSP00000216962:p.Tyr778Cys					ABHD12_uc002wuq.2_Intron|ABHD12_uc002wur.2_Intron	p.Y778C	NM_002862	NP_002853	P11216	PYGB_HUMAN			19	2442	+			778					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.2333A>G	CCDS13171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.33|16.33	3.093418|3.093418	0.56075|0.56075	.|.	.|.	ENSG00000100994|ENSG00000100994	ENST00000428458|ENST00000216962	.|D	.|0.94497	.|-3.44	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.059590	.|0.64402	.|D	.|0.000002	D|D	0.97626|0.97626	0.9222|0.9222	M|M	0.91196|0.91196	3.185|3.185	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79108	.|0.992	D|D	0.98570|0.98570	1.0645|1.0645	5|10	.|0.87932	.|D	.|0	-15.5356|-15.5356	14.5419|14.5419	0.68002|0.68002	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|778	.|P11216	.|PYGB_HUMAN	V|C	197|778	.|ENSP00000216962:Y778C	.|ENSP00000216962:Y778C	M|Y	+|+	1|2	0|0	PYGB|PYGB	25224260|25224260	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.518000|0.518000	0.34316|0.34316	5.797000|5.797000	0.69087|0.69087	2.169000|2.169000	0.68431|0.68431	0.459000|0.459000	0.35465|0.35465	ATG|TAT		0.632	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		22	88	0	0	0	0	22	88				
NFATC2	4773	broad.mit.edu	37	20	50140011	50140011	+	Missense_Mutation	SNP	C	C	T	rs201848514		TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr20:50140011C>T	ENST00000396009.3	-	2	988	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	NFATC2_ENST00000371564.3_Missense_Mutation_p.A257T|NFATC2_ENST00000609943.1_Missense_Mutation_p.A237T|NFATC2_ENST00000609507.1_Missense_Mutation_p.A38T|NFATC2_ENST00000414705.1_Missense_Mutation_p.A237T|NFATC2_ENST00000610033.1_Missense_Mutation_p.A38T	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	257	3 X approximate SP repeats.				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)					AAGGCCTCGGCGCACGAATGC	0.741																																						uc002xwd.2		NA																	0				ovary(2)	2						c.(769-771)GCC>ACC		nuclear factor of activated T-cells,							18.0	23.0	21.0					20																	50140011		2186	4263	6449	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140011C>T	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.769G>A	20.37:g.50140011C>T	ENSP00000379330:p.Ala257Thr					NFATC2_uc002xwc.2_Missense_Mutation_p.A257T|NFATC2_uc010zyv.1_Missense_Mutation_p.A38T|NFATC2_uc010zyw.1_Missense_Mutation_p.A38T|NFATC2_uc010zyx.1_Missense_Mutation_p.A237T|NFATC2_uc010zyy.1_Missense_Mutation_p.A38T|NFATC2_uc010zyz.1_Missense_Mutation_p.A38T|NFATC2_uc002xwe.2_Missense_Mutation_p.A237T	p.A257T	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			2	989	-	Hepatocellular(150;0.248)		257			3 X approximate SP repeats.		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.769G>A	CCDS13437.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.52	1.963004	0.34659	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.80824	-1.42;-1.42;-1.42	5.43	4.48	0.54585	.	0.281896	0.36268	N	0.002695	T	0.69015	0.3064	L	0.47190	1.495	0.30635	N	0.757062	B;B;B;B	0.29037	0.152;0.231;0.152;0.152	B;B;B;B	0.15484	0.007;0.013;0.01;0.008	T	0.64441	-0.6407	10	0.27785	T	0.31	-11.2771	7.1384	0.25541	0.0:0.7613:0.0:0.2387	.	237;237;257;257	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	T	257;257;38;237	ENSP00000360619:A257T;ENSP00000379330:A257T;ENSP00000396471:A237T	ENSP00000360619:A257T	A	-	1	0	NFATC2	49573418	1.000000	0.71417	0.992000	0.48379	0.946000	0.59487	3.070000	0.50033	1.279000	0.44446	0.313000	0.20887	GCC		0.741	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		9	36	0	0	0	0	9	36				
DIDO1	11083	broad.mit.edu	37	20	61510637	61510637	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr20:61510637G>C	ENST00000266070.4	-	16	6996	c.6671C>G	c.(6670-6672)cCg>cGg	p.P2224R	DIDO1_ENST00000395343.1_Missense_Mutation_p.P2224R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2224					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTCGGGCTTCGGGTCCCGAGC	0.692																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	0				ovary(3)|skin(3)	6						c.(6670-6672)CCG>CGG		death inducer-obliterator 1 isoform c							9.0	8.0	8.0					20																	61510637		2150	4223	6373	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61510637G>C	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6671C>G	20.37:g.61510637G>C	ENSP00000266070:p.Pro2224Arg					DIDO1_uc002yds.1_Missense_Mutation_p.P2224R	p.P2224R	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	6935	-	Breast(26;5.68e-08)		2224					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.6671C>G	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	0.435	-0.901252	0.02453	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.36340	1.26;1.26	5.36	0.047	0.14278	.	1.245330	0.06271	U	0.695606	T	0.21267	0.0512	N	0.19112	0.55	0.09310	N	0.999999	B	0.17465	0.022	B	0.12156	0.007	T	0.25950	-1.0117	10	0.18710	T	0.47	-3.4529	5.9072	0.19008	0.337:0.0:0.544:0.119	.	2224	Q9BTC0	DIDO1_HUMAN	R	2224	ENSP00000266070:P2224R;ENSP00000378752:P2224R	ENSP00000266070:P2224R	P	-	2	0	DIDO1	60981082	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.588000	0.05774	0.001000	0.14605	0.655000	0.94253	CCG		0.692	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		3	13	0	0	0	0	3	13				
YTHDF1	54915	broad.mit.edu	37	20	61834905	61834905	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr20:61834905G>C	ENST00000370339.3	-	4	728	c.387C>G	c.(385-387)ttC>ttG	p.F129L	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.F79L	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	129							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CCCATGCTGAGAACGCAGGGT	0.567																																						uc002yeh.2		NA																	0				ovary(2)	2						c.(385-387)TTC>TTG		YTH domain family, member 1							56.0	53.0	54.0					20																	61834905		2203	4300	6503	SO:0001583	missense	54915							g.chr20:61834905G>C	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.387C>G	20.37:g.61834905G>C	ENSP00000359364:p.Phe129Leu					YTHDF1_uc011aaq.1_Missense_Mutation_p.F79L	p.F129L	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN			4	681	-			129					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	c.387C>G	CCDS13511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.07|18.07	3.542546|3.542546	0.65198|0.65198	.|.	.|.	ENSG00000149658|ENSG00000149658	ENST00000370339;ENST00000370333|ENST00000342761	T;T|.	0.40225|.	1.04;1.04|.	5.15|5.15	0.37|0.37	0.16160|0.16160	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69895|0.69895	0.3162|0.3162	M|M	0.75447|0.75447	2.3|2.3	0.53688|0.53688	D|D	0.999973|0.999973	D|.	0.59357|.	0.985|.	P|.	0.57846|.	0.828|.	T|T	0.71140|0.71140	-0.4679|-0.4679	10|6	0.30078|0.72032	T|D	0.28|0.01	-25.8221|-25.8221	10.2016|10.2016	0.43087|0.43087	0.3805:0.0:0.6195:0.0|0.3805:0.0:0.6195:0.0	.|.	129|.	Q9BYJ9|.	YTHD1_HUMAN|.	L|C	129;79|28	ENSP00000359364:F129L;ENSP00000359358:F79L|.	ENSP00000359358:F79L|ENSP00000339489:S28C	F|S	-|-	3|2	2|0	YTHDF1|YTHDF1	61305350|61305350	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.929000|0.929000	0.56500|0.56500	1.631000|1.631000	0.37092|0.37092	0.197000|0.197000	0.20387|0.20387	-0.339000|-0.339000	0.08088|0.08088	TTC|TCT		0.567	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		20	50	0	0	0	0	20	50				
KRTAP10-6	386674	broad.mit.edu	37	21	46011993	46011993	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr21:46011993A>C	ENST00000400368.1	-	1	393	c.373T>G	c.(373-375)Tgt>Ggt	p.C125G	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	125	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						ACGGACACACAGCACACAGGC	0.642																																						uc002zfm.2		NA																	0					0						c.(373-375)TGT>GGT		keratin associated protein 10-6							59.0	93.0	82.0					21																	46011993		2046	4216	6262	SO:0001583	missense	386674					keratin filament		g.chr21:46011993A>C	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.373T>G	21.37:g.46011993A>C	ENSP00000383219:p.Cys125Gly					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.C125G	NM_198688	NP_941961	P60371	KR106_HUMAN			1	394	-			125			29 X 5 AA repeats of C-C-X(3).|9.			Missense_Mutation	SNP	ENST00000400368.1	37	c.373T>G	CCDS42959.1	.	.	.	.	.	.	.	.	.	.	a	10.89	1.477934	0.26511	.	.	ENSG00000188155	ENST00000400368	T	0.02682	4.2	2.71	2.71	0.32032	.	.	.	.	.	T	0.15522	0.0374	M	0.88512	2.96	0.28674	N	0.905479	D	0.67145	0.996	D	0.69824	0.966	T	0.01771	-1.1277	9	0.72032	D	0.01	.	8.9146	0.35574	1.0:0.0:0.0:0.0	.	125	P60371	KR106_HUMAN	G	125	ENSP00000383219:C125G	ENSP00000383219:C125G	C	-	1	0	KRTAP10-6	44836421	0.984000	0.35163	0.209000	0.23619	0.123000	0.20343	1.708000	0.37899	1.258000	0.44101	0.329000	0.21502	TGT		0.642	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		6	63	0	0	0	0	6	63				
GRM2	2912	broad.mit.edu	37	3	51746779	51746779	+	Silent	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:51746779C>T	ENST00000395052.3	+	3	975	c.741C>T	c.(739-741)cgC>cgT	p.R247R	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Silent_p.R247R	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	247					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCATGAGCCGCGCGGCCTTTG	0.647																																						uc010hlv.2		NA																	0				lung(1)	1						c.(739-741)CGC>CGT		glutamate receptor, metabotropic 2 isoform a	Acamprosate(DB00659)|Nicotine(DB00184)						35.0	34.0	35.0					3																	51746779		2203	4300	6503	SO:0001819	synonymous_variant	2912				synaptic transmission	integral to plasma membrane		g.chr3:51746779C>T	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.741C>T	3.37:g.51746779C>T						GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	p.R247R	NM_000839	NP_000830	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	980	+			247			Extracellular (Potential).		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Silent	SNP	ENST00000395052.3	37	c.741C>T	CCDS2834.1																																																																																				0.647	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			3	37	0	0	0	0	3	37				
SUCLG2	8801	broad.mit.edu	37	3	67546294	67546294	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:67546294G>T	ENST00000307227.5	-	9	1017	c.990C>A	c.(988-990)ttC>ttA	p.F330L	SUCLG2_ENST00000493112.1_Missense_Mutation_p.F330L|SUCLG2_ENST00000492795.1_Missense_Mutation_p.F330L	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	330					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP binding (GO:0005524)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	CAAGATCCAAGAAGTTGGCTG	0.443																																						uc003dna.3		NA																	0				central_nervous_system(1)|skin(1)	2						c.(988-990)TTC>TTA		succinate-CoA ligase, GDP-forming beta subunit	Succinic acid(DB00139)						104.0	96.0	99.0					3																	67546294		1915	4128	6043	SO:0001583	missense	8801				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr3:67546294G>T	AF058954	CCDS43104.1, CCDS54605.1	3p14.3	2004-05-17			ENSG00000172340	ENSG00000172340	6.2.1.4		11450	protein-coding gene	gene with protein product		603922				9765291	Standard	NM_001177599		Approved		uc003dna.4	Q96I99	OTTHUMG00000158740	ENST00000307227.5:c.990C>A	3.37:g.67546294G>T	ENSP00000307432:p.Phe330Leu					SUCLG2_uc010hob.2_Intron	p.F330L	NM_003848	NP_003839	Q96I99	SUCB2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	9	1018	-		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)	330					C9JVT2|O95195|Q6NUH7|Q86VX8|Q8WUQ1	Missense_Mutation	SNP	ENST00000307227.5	37	c.990C>A	CCDS43104.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296889	0.81025	.	.	ENSG00000172340	ENST00000493112;ENST00000307227;ENST00000492795	T;T;T	0.66460	-0.21;-0.21;-0.21	5.78	3.02	0.34903	Succinyl-CoA synthetase-like (2);ATP-citrate lyase/succinyl-CoA ligase (1);	0.000000	0.85682	D	0.000000	D	0.85492	0.5709	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86859	0.2028	10	0.87932	D	0	.	11.4831	0.50337	0.1966:0.0:0.8034:0.0	.	330	Q96I99	SUCB2_HUMAN	L	330	ENSP00000419325:F330L;ENSP00000307432:F330L;ENSP00000417589:F330L	ENSP00000307432:F330L	F	-	3	2	SUCLG2	67628984	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	2.213000	0.42844	0.359000	0.24239	0.563000	0.77884	TTC		0.443	SUCLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351993.1	NM_003848		17	31	1	0	2e-07	2.25e-07	17	31				
ZNF654	55279	broad.mit.edu	37	3	88189025	88189025	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:88189025G>C	ENST00000309495.5	+	1	772	c.565G>C	c.(565-567)Gac>Cac	p.D189H	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	189					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(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CCATCCAAAAGACATATATGC	0.358																																						uc003dqv.2		NA																	0				ovary(1)	1						c.(565-567)GAC>CAC		zinc finger protein 654							61.0	58.0	59.0					3																	88189025		1879	4121	6000	SO:0001583	missense	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88189025G>C	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.565G>C	3.37:g.88189025G>C	ENSP00000312141:p.Asp189His					CGGBP1_uc003dqu.2_Intron	p.D189H	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	764	+		Lung NSC(201;0.0283)	189					Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	c.565G>C	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.531829	0.45073	.	.	ENSG00000175105	ENST00000309495	T	0.10477	2.87	5.83	5.83	0.93111	.	0.835833	0.10706	N	0.643441	T	0.12860	0.0312	L	0.27053	0.805	0.34766	D	0.733194	P	0.41569	0.755	B	0.44278	0.445	T	0.23762	-1.0179	10	0.25751	T	0.34	.	15.54	0.76035	0.0:0.0:0.8617:0.1383	.	189	Q8IZM8	ZN654_HUMAN	H	189	ENSP00000312141:D189H	ENSP00000312141:D189H	D	+	1	0	ZNF654	88271715	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	4.273000	0.58914	2.756000	0.94617	0.655000	0.94253	GAC		0.358	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		6	13	0	0	0	0	6	13				
OR5H15	403274	broad.mit.edu	37	3	97888223	97888223	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:97888223A>T	ENST00000356526.2	+	1	680	c.680A>T	c.(679-681)gAa>gTa	p.E227V		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	227						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(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ACAGTCTTAGAAAAGAAATCT	0.358																																						uc011bgu.1		NA																	0				ovary(1)|skin(1)	2						c.(679-681)GAA>GTA		olfactory receptor, family 5, subfamily H,							70.0	75.0	73.0					3																	97888223		2203	4300	6503	SO:0001583	missense	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97888223A>T		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.680A>T	3.37:g.97888223A>T	ENSP00000373195:p.Glu227Val						p.E227V	NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN			1	680	+			227			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000356526.2	37	c.680A>T	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	8.479	0.859374	0.17178	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.00137	8.68	2.48	-1.65	0.08291	GPCR, rhodopsin-like superfamily (1);	0.402385	0.21144	N	0.079421	T	0.00073	0.0002	N	0.04508	-0.205	0.09310	N	1	B	0.22851	0.076	B	0.30495	0.116	T	0.31081	-0.9956	10	0.87932	D	0	.	3.5552	0.07862	0.5172:0.2049:0.2779:0.0	.	227	A6NDH6	O5H15_HUMAN	V	227	ENSP00000373195:E227V	ENSP00000373195:E227V	E	+	2	0	OR5H15	99370913	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.030000	0.13688	-0.189000	0.10482	0.155000	0.16302	GAA		0.358	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			5	96	0	0	0	0	5	96				
SLC9C1	285335	broad.mit.edu	37	3	111918181	111918181	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:111918181G>A	ENST00000305815.5	-	20	2762	c.2510C>T	c.(2509-2511)gCt>gTt	p.A837V	SLC9C1_ENST00000487372.1_Missense_Mutation_p.A789V	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	837					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										ATTAATTCCAGCACCTTCAGT	0.303																																						uc003dyu.2		NA																	0				ovary(3)|breast(2)	5						c.(2509-2511)GCT>GTT		sperm-specific sodium proton exchanger							84.0	92.0	89.0					3																	111918181		2202	4299	6501	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111918181G>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2510C>T	3.37:g.111918181G>A	ENSP00000306627:p.Ala837Val					SLC9A10_uc011bhu.1_Missense_Mutation_p.A100V|SLC9A10_uc010hqc.2_Missense_Mutation_p.A789V	p.A837V	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			20	2732	-			837					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.2510C>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	G	2.371	-0.344442	0.05208	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.77358	-1.08;-1.09	5.67	2.83	0.33086	.	1.092580	0.06990	N	0.821437	T	0.61502	0.2352	N	0.17474	0.49	0.09310	N	1	B;B	0.30406	0.046;0.278	B;B	0.28232	0.087;0.057	T	0.48387	-0.9040	10	0.25751	T	0.34	.	6.4339	0.21813	0.0845:0.0:0.5915:0.324	.	789;837	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	V	837;789	ENSP00000306627:A837V;ENSP00000420688:A789V	ENSP00000306627:A837V	A	-	2	0	SLC9A10	113400871	0.119000	0.22226	0.002000	0.10522	0.003000	0.03518	0.399000	0.20916	0.293000	0.22520	0.655000	0.94253	GCT		0.303	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		3	92	0	0	0	0	3	92				
POLQ	10721	broad.mit.edu	37	3	121200622	121200622	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:121200622G>A	ENST00000264233.5	-	19	6136	c.6008C>T	c.(6007-6009)cCg>cTg	p.P2003L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2003					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)		ATGAAGAGTCGGCTCCTGAGA	0.438								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(6007-6009)CCG>CTG	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							80.0	80.0	80.0					3																	121200622		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121200622G>A	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.6008C>T	3.37:g.121200622G>A	ENSP00000264233:p.Pro2003Leu					POLQ_uc003eed.2_Missense_Mutation_p.P1175L	p.P2003L	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	19	6137	-			2003					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.6008C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049302	0.36181	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.20332	2.08	5.17	5.17	0.71159	Ribonuclease H-like (1);	0.305250	0.33854	N	0.004500	T	0.29321	0.0730	L	0.41236	1.265	0.45025	D	0.998047	D;D	0.89917	1.0;0.998	D;P	0.69654	0.965;0.752	T	0.03166	-1.1065	10	0.10377	T	0.69	.	9.398	0.38415	0.0:0.3111:0.5546:0.1343	.	2003;1175	O75417;O75417-2	DPOLQ_HUMAN;.	L	1626;2003;2139	ENSP00000264233:P2003L	ENSP00000264233:P2003L	P	-	2	0	POLQ	122683312	0.998000	0.40836	0.988000	0.46212	0.993000	0.82548	3.721000	0.54941	2.688000	0.91661	0.650000	0.86243	CCG		0.438	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		16	116	0	0	0	0	16	116				
TF	7018	broad.mit.edu	37	3	133486976	133486976	+	Silent	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:133486976A>G	ENST00000402696.3	+	13	2075	c.1590A>G	c.(1588-1590)aaA>aaG	p.K530K	TF_ENST00000264998.3_Silent_p.K403K	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	530	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	CCAACAACAAAGAGGGATACT	0.443																																						uc003epu.1		NA																	0				ovary(1)|skin(1)	2						c.(1588-1590)AAA>AAG		transferrin precursor	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						88.0	89.0	89.0					3																	133486976		2203	4300	6503	SO:0001819	synonymous_variant	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133486976A>G		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1590A>G	3.37:g.133486976A>G						TF_uc011blt.1_Silent_p.K403K|TF_uc003epw.1_Intron|TF_uc003epv.1_Silent_p.K530K	p.K530K	NM_001063	NP_001054	P02787	TRFE_HUMAN			18	3318	+			530			Transferrin-like 2.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Silent	SNP	ENST00000402696.3	37	c.1590A>G	CCDS3080.1																																																																																				0.443	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		14	85	0	0	0	0	14	85				
MCCC1	56922	broad.mit.edu	37	3	182759449	182759449	+	Silent	SNP	A	A	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:182759449A>C	ENST00000265594.4	-	11	1319	c.1173T>G	c.(1171-1173)ccT>ccG	p.P391P	MCCC1_ENST00000539926.1_Silent_p.P256P|MCCC1_ENST00000492597.1_Silent_p.P282P	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	391	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	AGTTATTGCTAGGATCTTCTG	0.488																																						uc003fle.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1171-1173)CCT>CCG		methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	Biotin(DB00121)						153.0	151.0	152.0					3																	182759449		2203	4300	6503	SO:0001819	synonymous_variant	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182759449A>C	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1173T>G	3.37:g.182759449A>C						MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Silent_p.P274P|MCCC1_uc003flg.2_Silent_p.P282P|MCCC1_uc011bqp.1_Silent_p.P344P	p.P391P	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		11	1310	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		391			Biotin carboxylation.		Q59ES4|Q9H959|Q9NS97	Silent	SNP	ENST00000265594.4	37	c.1173T>G	CCDS3241.1																																																																																				0.488	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		12	206	0	0	0	0	12	206				
HTR3C	170572	broad.mit.edu	37	3	183773130	183773130	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr3:183773130C>G	ENST00000318351.1	+	3	299	c.265C>G	c.(265-267)Ctg>Gtg	p.L89V		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	89					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GACATCATTCCTGTGGATGGA	0.438																																						uc003fmk.2		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(265-267)CTG>GTG		5-hydroxytryptamine receptor 3 subunit C							107.0	100.0	102.0					3																	183773130		2203	4300	6503	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183773130C>G	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.265C>G	3.37:g.183773130C>G	ENSP00000322617:p.Leu89Val						p.L89V	NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		3	299	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		89			Extracellular (Potential).		A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.265C>G	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	.	13.54	2.266922	0.40095	.	.	ENSG00000178084	ENST00000318351	T	0.77877	-1.13	4.88	0.816	0.18768	Neurotransmitter-gated ion-channel ligand-binding (3);	0.091579	0.45361	D	0.000367	T	0.57562	0.2062	L	0.42487	1.325	0.23186	N	0.998154	P	0.42827	0.791	B	0.36959	0.237	T	0.49679	-0.8914	10	0.12103	T	0.63	.	1.9048	0.03275	0.1618:0.4993:0.1572:0.1817	.	89	Q8WXA8	5HT3C_HUMAN	V	89	ENSP00000322617:L89V	ENSP00000322617:L89V	L	+	1	2	HTR3C	185255824	0.976000	0.34144	0.997000	0.53966	0.854000	0.48673	0.141000	0.16076	0.261000	0.21753	-0.188000	0.12872	CTG		0.438	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		23	105	0	0	0	0	23	105				
TBC1D14	57533	broad.mit.edu	37	4	6925212	6925212	+	Silent	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr4:6925212C>T	ENST00000409757.4	+	2	220	c.96C>T	c.(94-96)caC>caT	p.H32H	TBC1D14_ENST00000448507.1_Silent_p.H32H	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	32					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						ACCTGCAACACGTCAATCTCA	0.562																																						uc011bwg.1		NA																	0				ovary(1)|pancreas(1)	2						c.(94-96)CAC>CAT		TBC1 domain family, member 14 isoform a							102.0	101.0	101.0					4																	6925212		2203	4300	6503	SO:0001819	synonymous_variant	57533					intracellular	Rab GTPase activator activity	g.chr4:6925212C>T	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.96C>T	4.37:g.6925212C>T						TBC1D14_uc003gjs.3_Silent_p.H32H	p.H32H	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN			2	175	+			32					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Silent	SNP	ENST00000409757.4	37	c.96C>T	CCDS3394.2																																																																																				0.562	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		9	108	0	0	0	0	9	108				
LAP3	51056	broad.mit.edu	37	4	17583958	17583958	+	Silent	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr4:17583958A>G	ENST00000226299.4	+	4	595	c.321A>G	c.(319-321)ggA>ggG	p.G107G	LAP3_ENST00000606142.1_Silent_p.G76G	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	107					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						AGGCAGCTGGAATCGACGAAC	0.438																																						uc003gph.1		NA																	0					0						c.(319-321)GGA>GGG		leucine aminopeptidase 3							103.0	97.0	99.0					4																	17583958		2203	4300	6503	SO:0001819	synonymous_variant	51056				proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	g.chr4:17583958A>G	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.321A>G	4.37:g.17583958A>G						LAP3_uc010ieg.2_Intron	p.G107G	NM_015907	NP_056991	P28838	AMPL_HUMAN			4	483	+			107					B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Silent	SNP	ENST00000226299.4	37	c.321A>G	CCDS3422.1																																																																																				0.438	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			3	24	0	0	0	0	3	24				
EPHA5	2044	broad.mit.edu	37	4	66197778	66197778	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr4:66197778A>T	ENST00000273854.3	-	17	3521	c.2921T>A	c.(2920-2922)cTa>cAa	p.L974Q	EPHA5_ENST00000354839.4_Missense_Mutation_p.L952Q|EPHA5_ENST00000432638.2_Missense_Mutation_p.L811Q|EPHA5_ENST00000511294.1_Missense_Mutation_p.L975Q	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	974	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GATTGCCTCTAGCCATTCACC	0.398										TSP Lung(17;0.13)																												uc003hcy.2		NA																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(2920-2922)CTA>CAA		ephrin receptor EphA5 isoform a precursor							84.0	78.0	80.0					4																	66197778		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66197778A>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2921T>A	4.37:g.66197778A>T	ENSP00000273854:p.Leu974Gln	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.L906Q|EPHA5_uc003hcz.2_Missense_Mutation_p.L952Q|EPHA5_uc011cah.1_Missense_Mutation_p.L975Q|EPHA5_uc011cai.1_Missense_Mutation_p.L953Q|EPHA5_uc003hda.2_Missense_Mutation_p.L975Q	p.L974Q	NM_004439	NP_004430	P54756	EPHA5_HUMAN			17	3114	-			974			Cytoplasmic (Potential).|SAM.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2921T>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179450	0.78564	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.47	5.47	0.80525	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.46758	D	0.000274	D	0.90266	0.6956	H	0.95437	3.67	0.80722	D	1	D;D;D;D	0.89917	0.993;1.0;0.992;1.0	D;D;D;D	0.97110	0.964;1.0;0.939;1.0	D	0.93131	0.6533	10	0.87932	D	0	.	15.8518	0.78937	1.0:0.0:0.0:0.0	.	953;975;952;974	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	Q	974;811;952;975	ENSP00000273854:L974Q;ENSP00000389208:L811Q;ENSP00000346899:L952Q;ENSP00000427638:L975Q	ENSP00000273854:L974Q	L	-	2	0	EPHA5	65880373	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.287000	0.95975	2.215000	0.71742	0.459000	0.35465	CTA		0.398	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		22	49	0	0	0	0	22	49				
CCRN4L	25819	broad.mit.edu	37	4	139964425	139964425	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr4:139964425G>A	ENST00000280614.2	+	2	581	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	130					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					GAGGGATTTTGTGGATCTGAG	0.547																																					Ovarian(144;566 1842 19130 21379 22209)	uc003ihl.2		NA																	0				ovary(1)	1						c.(388-390)GTG>ATG		CCR4 carbon catabolite repression 4-like							100.0	103.0	102.0					4																	139964425		2203	4300	6503	SO:0001583	missense	25819				rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:139964425G>A	AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"""CCR4-like (carbon catabolite repression 4, S.cerevisiae)"""			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.388G>A	4.37:g.139964425G>A	ENSP00000280614:p.Val130Met					CCRN4L_uc003ihk.1_Missense_Mutation_p.V130M	p.V130M	NM_012118	NP_036250	Q9UK39	NOCT_HUMAN			2	581	+	all_hematologic(180;0.162)		130					D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Missense_Mutation	SNP	ENST00000280614.2	37	c.388G>A	CCDS3743.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209277	0.39003	.	.	ENSG00000151014	ENST00000280614	T	0.34667	1.35	4.97	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.32882	0.0844	L	0.53249	1.67	0.80722	D	1	B;B	0.32893	0.179;0.389	B;B	0.30572	0.034;0.117	T	0.07443	-1.0772	9	.	.	.	-15.0189	13.5822	0.61909	0.0755:0.0:0.9245:0.0	.	130;130	Q9UK39;Q8WTX0	NOCT_HUMAN;.	M	130	ENSP00000280614:V130M	.	V	+	1	0	CCRN4L	140183875	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	4.139000	0.58024	1.112000	0.41740	-0.228000	0.12330	GTG		0.547	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257231.3	NM_012118		34	130	0	0	0	0	34	130				
ZNF330	27309	broad.mit.edu	37	4	142147942	142147942	+	Missense_Mutation	SNP	A	A	C	rs577141399		TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr4:142147942A>C	ENST00000262990.4	+	5	461	c.233A>C	c.(232-234)aAg>aCg	p.K78T	ZNF330_ENST00000421169.2_Missense_Mutation_p.K18T	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	78						chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					TGCATGATGAAGTCTTCAGAC	0.388																																						uc003iiq.3		NA																	0					0						c.(232-234)AAG>ACG		zinc finger protein 330							231.0	204.0	213.0					4																	142147942		2203	4300	6503	SO:0001583	missense	27309					chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	g.chr4:142147942A>C	AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"""Zinc fingers, C2H2-type"""	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.233A>C	4.37:g.142147942A>C	ENSP00000262990:p.Lys78Thr					ZNF330_uc011chl.1_Missense_Mutation_p.K18T	p.K78T	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN			5	453	+	all_hematologic(180;0.162)		78			C4-type 2 (Potential).		B2RDA3	Missense_Mutation	SNP	ENST00000262990.4	37	c.233A>C	CCDS3754.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.765182	0.90020	.	.	ENSG00000109445	ENST00000262990;ENST00000512809;ENST00000503649;ENST00000512738;ENST00000421169	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.69842	0.3156	M	0.87097	2.86	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.987;0.997	T	0.76102	-0.3082	10	0.87932	D	0	-7.867	15.9781	0.80086	1.0:0.0:0.0:0.0	.	18;78	E9PDK6;Q9Y3S2	.;ZN330_HUMAN	T	78;78;78;78;18	ENSP00000262990:K78T;ENSP00000422599:K78T;ENSP00000422966:K78T;ENSP00000422251:K78T;ENSP00000397397:K18T	ENSP00000262990:K78T	K	+	2	0	ZNF330	142367392	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.228000	0.95250	2.171000	0.68590	0.533000	0.62120	AAG		0.388	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257271.2	NM_014487		29	176	0	0	0	0	29	176				
H2AFY	9555	broad.mit.edu	37	5	134724631	134724631	+	Silent	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr5:134724631G>A	ENST00000511689.1	-	2	746	c.153C>T	c.(151-153)gcC>gcT	p.A51A	H2AFY_ENST00000312469.4_Silent_p.A51A|H2AFY_ENST00000423969.2_Silent_p.A51A|H2AFY_ENST00000304332.4_Silent_p.A51A|H2AFY_ENST00000510038.1_Silent_p.A51A	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	51	Histone H2A.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTCCAGGACGGCGGCCATGT	0.532																																						uc003lam.1		NA																	0					0						c.(151-153)GCC>GCT		H2A histone family, member Y isoform 3							98.0	89.0	92.0					5																	134724631		2203	4300	6503	SO:0001819	synonymous_variant	9555				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr5:134724631G>A	AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"""Histones / Replication-independent"""	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.153C>T	5.37:g.134724631G>A						H2AFY_uc003lao.1_Silent_p.A51A|H2AFY_uc003lan.1_Silent_p.A51A|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Silent_p.A51A|H2AFY_uc003las.1_Silent_p.A51A|H2AFY_uc003lat.1_Silent_p.A51A	p.A51A	NM_138610	NP_613258	O75367	H2AY_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	363	-			51			Histone H2A.		O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Silent	SNP	ENST00000511689.1	37	c.153C>T	CCDS4185.1																																																																																				0.532	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	NM_004893		23	91	0	0	0	0	23	91				
PCDHGA6	56109	broad.mit.edu	37	5	140755360	140755360	+	Silent	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr5:140755360C>T	ENST00000517434.1	+	1	1710	c.1710C>T	c.(1708-1710)gaC>gaT	p.D570D	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	570	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D570E(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCACAGACGGTTCCACTG	0.667																																						uc003ljy.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1708-1710)GAC>GAT		protocadherin gamma subfamily A, 6 isoform 1							103.0	120.0	114.0					5																	140755360		2202	4298	6500	SO:0001819	synonymous_variant	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140755360C>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1710C>T	5.37:g.140755360C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.D570D	p.D570D	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1710	+			570			Extracellular (Potential).|Cadherin 6.		A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	c.1710C>T	CCDS54926.1																																																																																				0.667	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		48	168	0	0	0	0	48	168				
LARP1	23367	broad.mit.edu	37	5	154179561	154179561	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr5:154179561G>T	ENST00000336314.4	+	10	1468	c.1444G>T	c.(1444-1446)Gaa>Taa	p.E482*		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	559	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAACTGGATTGAAGTGAAGAA	0.577																																						uc003lvp.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1675-1677)GAA>TAA		la related protein isoform 2							62.0	58.0	59.0					5																	154179561		2203	4300	6503	SO:0001587	stop_gained	23367						protein binding|RNA binding	g.chr5:154179561G>T	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1444G>T	5.37:g.154179561G>T	ENSP00000336721:p.Glu482*					LARP1_uc003lvo.2_Nonsense_Mutation_p.E482*|LARP1_uc010jie.1_Nonsense_Mutation_p.E354*	p.E559*	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		10	2104	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	559					O94836|Q8N4M2|Q8NB73|Q9UFD7	Nonsense_Mutation	SNP	ENST00000336314.4	37	c.1675G>T	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721342	0.89205	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248;ENST00000523163;ENST00000518742	.	.	.	5.96	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-10.9188	15.3845	0.74687	0.0667:0.0:0.9333:0.0	.	.	.	.	X	482;559;354;267;157	.	ENSP00000336721:E482X	E	+	1	0	LARP1	154159754	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.342000	0.97044	1.533000	0.49186	0.655000	0.94253	GAA		0.577	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		20	58	1	0	7.45e-12	8.55e-12	20	58				
HIST1H2AG	8969	broad.mit.edu	37	6	27101004	27101004	+	Silent	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:27101004C>T	ENST00000359193.2	+	1	173	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L	HIST1H2BJ_ENST00000339812.2_5'Flank|HIST1H2BJ_ENST00000607124.1_5'Flank|HIST1H2BJ_ENST00000541790.1_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	52						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						GCCGGTGTATCTGGCAGCGGT	0.677																																						uc003niw.2		NA																	0					0						c.(154-156)CTG>TTG		histone cluster 1, H2ag							42.0	46.0	44.0					6																	27101004		2203	4300	6503	SO:0001819	synonymous_variant	8969				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27101004C>T	L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"""Histones / Replication-dependent"""	4737	protein-coding gene	gene with protein product		615012	"""H2A histone family, member P"", ""histone 1, H2ag"""	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.154C>T	6.37:g.27101004C>T						HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank	p.L52L	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN			1	188	+			52					P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000359193.2	37	c.154C>T	CCDS4619.1																																																																																				0.677	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040137.1	NM_021064		14	51	0	0	0	0	14	51				
NKAPL	222698	broad.mit.edu	37	6	28227211	28227211	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:28227211G>A	ENST00000343684.3	+	1	114	c.62G>A	c.(61-63)cGc>cAc	p.R21H	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	21										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AGAAGGCGACGCAGCTCCTCG	0.667																																						uc003nkt.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(61-63)CGC>CAC		NFKB activating protein-like							34.0	32.0	33.0					6																	28227211		2203	4300	6503	SO:0001583	missense	222698							g.chr6:28227211G>A	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.62G>A	6.37:g.28227211G>A	ENSP00000345716:p.Arg21His					ZKSCAN4_uc011dlb.1_5'Flank	p.R21H	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN			1	114	+			21					Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.62G>A	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205458	0.39003	.	.	ENSG00000189134	ENST00000343684	T	0.15718	2.4	3.61	2.73	0.32206	.	0.460221	0.22043	N	0.065425	T	0.04497	0.0123	L	0.39633	1.23	0.09310	N	0.999998	B	0.21688	0.059	B	0.12156	0.007	T	0.31888	-0.9927	10	0.41790	T	0.15	-0.0864	6.834	0.23925	0.1302:0.0:0.8698:0.0	.	21	Q5M9Q1	NKAPL_HUMAN	H	21	ENSP00000345716:R21H	ENSP00000345716:R21H	R	+	2	0	NKAPL	28335190	0.001000	0.12720	0.026000	0.17262	0.004000	0.04260	0.299000	0.19138	0.879000	0.35944	0.655000	0.94253	CGC		0.667	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			5	73	0	0	0	0	5	73				
ZSCAN31	64288	broad.mit.edu	37	6	28294189	28294189	+	Silent	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:28294189G>A	ENST00000414429.1	-	8	1878	c.975C>T	c.(973-975)tgC>tgT	p.C325C	ZSCAN31_ENST00000439158.1_Silent_p.C325C|ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000344279.6_Silent_p.C325C|ZSCAN31_ENST00000396838.2_Silent_p.C325C|ZSCAN31_ENST00000446474.1_Silent_p.C166C			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	325					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)										CACACACTTTGCATTCATATG	0.493																																						uc003nla.2		NA																	0				ovary(1)|skin(1)	2						c.(973-975)TGC>TGT		zinc finger protein 323							182.0	173.0	176.0					6																	28294189		2203	4300	6503	SO:0001819	synonymous_variant	64288				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28294189G>A		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.975C>T	6.37:g.28294189G>A						ZNF323_uc003nld.2_Silent_p.C325C|ZNF323_uc010jra.2_Silent_p.C325C|ZNF323_uc003nlb.2_Silent_p.C166C|ZNF323_uc010jrb.2_Silent_p.C166C|ZNF323_uc003nlc.2_Silent_p.C325C	p.C325C	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN			4	1375	-			325			C2H2-type 4.		Q6P178|Q8WWS5	Silent	SNP	ENST00000414429.1	37	c.975C>T	CCDS4649.1																																																																																				0.493	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		17	276	0	0	0	0	17	276				
CD2AP	23607	broad.mit.edu	37	6	47471022	47471022	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:47471022A>G	ENST00000359314.5	+	2	467	c.11A>G	c.(10-12)tAt>tGt	p.Y4C		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	4	Interaction with ANLN and localization to the midbody.|SH3 1; truncated. {ECO:0000255|PROSITE- ProRule:PRU00192}.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTAGTTGACTATATTGTGGAG	0.318																																						uc003oyw.2		NA																	0				ovary(1)|skin(1)	2						c.(10-12)TAT>TGT		CD2-associated protein							127.0	120.0	123.0					6																	47471022		2203	4300	6503	SO:0001583	missense	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47471022A>G	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.11A>G	6.37:g.47471022A>G	ENSP00000352264:p.Tyr4Cys						p.Y4C	NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		2	467	+			4			Interaction with ANLN and localization to the midbody.|SH3 1; truncated.		A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	37	c.11A>G	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.945491	0.53079	.	.	ENSG00000198087	ENST00000359314	T	0.33216	1.42	4.68	4.68	0.58851	Src homology-3 domain (4);	0.693397	0.14889	N	0.292519	T	0.23727	0.0574	N	0.11255	0.115	0.41383	D	0.987565	D	0.89917	1.0	D	0.72982	0.979	T	0.18935	-1.0321	10	0.36615	T	0.2	-10.1759	14.1476	0.65360	1.0:0.0:0.0:0.0	.	4	Q9Y5K6	CD2AP_HUMAN	C	4	ENSP00000352264:Y4C	ENSP00000352264:Y4C	Y	+	2	0	CD2AP	47578981	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.824000	0.55723	1.735000	0.51646	0.533000	0.62120	TAT		0.318	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2			22	65	0	0	0	0	22	65				
OGFRL1	79627	broad.mit.edu	37	6	72011631	72011631	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:72011631C>T	ENST00000370435.4	+	7	1369	c.1235C>T	c.(1234-1236)aCt>aTt	p.T412I	RP11-154D6.1_ENST00000585882.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	412						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						AAAACAGTTACTACTCCCACA	0.423																																						uc003pfx.1		NA																	0					0						c.(1234-1236)ACT>ATT		opioid growth factor receptor-like 1							90.0	97.0	95.0					6																	72011631		2203	4300	6503	SO:0001583	missense	79627					membrane	receptor activity	g.chr6:72011631C>T		CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.1235C>T	6.37:g.72011631C>T	ENSP00000359464:p.Thr412Ile						p.T412I	NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN			7	1398	+			412					Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	ENST00000370435.4	37	c.1235C>T	CCDS34482.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003200	0.35320	.	.	ENSG00000119900	ENST00000370435	T	0.43294	0.95	5.58	-11.2	0.00127	.	1.908060	0.02434	N	0.083888	T	0.09335	0.0230	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05784	-1.0864	10	0.34782	T	0.22	2.0557	6.8524	0.24022	0.1834:0.3177:0.4381:0.0608	.	412	Q5TC84	OGRL1_HUMAN	I	412	ENSP00000359464:T412I	ENSP00000359464:T412I	T	+	2	0	OGFRL1	72068352	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.004000	0.01461	-3.334000	0.00185	0.563000	0.77884	ACT		0.423	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041153.2	NM_024576		34	72	0	0	0	0	34	72				
EPHA7	2045	broad.mit.edu	37	6	93982120	93982120	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:93982120C>A	ENST00000369303.4	-	6	1529	c.1345G>T	c.(1345-1347)Gta>Tta	p.V449L		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	449	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TCCTTCATTACTCCACTCACT	0.448																																						uc003poe.2		NA																	0				lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(1345-1347)GTA>TTA		ephrin receptor EphA7 precursor							166.0	158.0	161.0					6																	93982120		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93982120C>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1345G>T	6.37:g.93982120C>A	ENSP00000358309:p.Val449Leu					EPHA7_uc003pof.2_Missense_Mutation_p.V449L|EPHA7_uc011eac.1_Missense_Mutation_p.V449L	p.V449L	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	6	1586	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	449			Extracellular (Potential).|Fibronectin type-III 2.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.1345G>T	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292226	0.40594	.	.	ENSG00000135333	ENST00000369303	T	0.51325	0.71	5.63	5.63	0.86233	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.059633	0.64402	D	0.000003	T	0.26085	0.0636	N	0.21194	0.64	0.80722	D	1	B;B;B	0.15141	0.012;0.001;0.001	B;B;B	0.18871	0.023;0.003;0.005	T	0.03112	-1.1071	10	0.39692	T	0.17	.	20.0368	0.97565	0.0:1.0:0.0:0.0	.	449;449;449	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	L	449	ENSP00000358309:V449L	ENSP00000358309:V449L	V	-	1	0	EPHA7	94038841	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.600000	0.61083	2.818000	0.97014	0.591000	0.81541	GTA		0.448	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			10	180	1	0	4.69e-08	5.3e-08	10	180				
FIG4	9896	broad.mit.edu	37	6	110037703	110037703	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:110037703A>G	ENST00000230124.3	+	3	345	c.221A>G	c.(220-222)aAt>aGt	p.N74S	FIG4_ENST00000441478.2_Intron|FIG4_ENST00000368941.1_5'Flank	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	74					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GATCTTGGAAATAGAACAAAG	0.418																																						uc003ptt.2		NA																	0				ovary(1)	1						c.(220-222)AAT>AGT		Sac domain-containing inositol phosphatase 3							140.0	137.0	138.0					6																	110037703		2203	4300	6503	SO:0001583	missense	9896				cell death	endosome membrane	protein binding	g.chr6:110037703A>G	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.221A>G	6.37:g.110037703A>G	ENSP00000230124:p.Asn74Ser					FIG4_uc011eau.1_Intron	p.N74S	NM_014845	NP_055660	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	3	436	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	74					Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	c.221A>G	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.311183	0.60414	.	.	ENSG00000112367	ENST00000230124;ENST00000454215	T;T	0.74315	0.48;-0.83	5.82	5.82	0.92795	.	0.948680	0.08741	N	0.900608	T	0.81683	0.4874	M	0.62266	1.93	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.75434	-0.3319	10	0.40728	T	0.16	-33.5584	15.8405	0.78842	1.0:0.0:0.0:0.0	.	74	Q92562	FIG4_HUMAN	S	74;53	ENSP00000230124:N74S;ENSP00000412156:N53S	ENSP00000230124:N74S	N	+	2	0	FIG4	110144396	1.000000	0.71417	0.976000	0.42696	0.992000	0.81027	8.469000	0.90395	2.232000	0.73038	0.477000	0.44152	AAT		0.418	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		41	160	0	0	0	0	41	160				
REV3L	5980	broad.mit.edu	37	6	111689218	111689218	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:111689218G>A	ENST00000358835.3	-	15	6227	c.5773C>T	c.(5773-5775)Cgg>Tgg	p.R1925W	REV3L_ENST00000435970.1_Missense_Mutation_p.R1847W|REV3L_ENST00000368805.1_Missense_Mutation_p.R1925W|REV3L_ENST00000368802.3_Missense_Mutation_p.R1925W			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1925					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATGAGGAGCCGTCCACCAATC	0.388								DNA polymerases (catalytic subunits)																														uc003puy.3		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(5773-5775)CGG>TGG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							35.0	32.0	33.0					6																	111689218		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111689218G>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5773C>T	6.37:g.111689218G>A	ENSP00000351697:p.Arg1925Trp					REV3L_uc003pux.3_Missense_Mutation_p.R1847W|REV3L_uc003puz.3_Missense_Mutation_p.R1847W|REV3L_uc003pva.1_RNA	p.R1925W	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	14	6096	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1925					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.5773C>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637663	0.67130	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.65	3.76	0.43208	Ribonuclease H-like (1);	0.219939	0.39407	N	0.001378	T	0.61677	0.2366	M	0.79805	2.47	0.34590	D	0.715388	D	0.76494	0.999	D	0.63381	0.914	T	0.70135	-0.4955	10	0.59425	D	0.04	-4.3529	14.0606	0.64797	0.0:0.0:0.43:0.5699	.	1925	O60673	DPOLZ_HUMAN	W	1925;1925;1925;1847	ENSP00000357792:R1925W;ENSP00000357795:R1925W;ENSP00000351697:R1925W;ENSP00000402003:R1847W	ENSP00000351697:R1925W	R	-	1	2	REV3L	111795911	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.247000	0.51422	0.749000	0.32854	0.655000	0.94253	CGG		0.388	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		15	59	0	0	0	0	15	59				
HSF2	3298	broad.mit.edu	37	6	122744792	122744792	+	Silent	SNP	A	A	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:122744792A>T	ENST00000368455.4	+	10	1329	c.1137A>T	c.(1135-1137)tcA>tcT	p.S379S	HSF2_ENST00000452194.1_Silent_p.S379S	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	379	Hydrophobic repeat HR-C.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		CCATGCTATCAGGAAGACAAT	0.343																																						uc003pyu.2		NA																	0					0						c.(1135-1137)TCA>TCT		heat shock transcription factor 2 isoform a							145.0	131.0	136.0					6																	122744792		2203	4300	6503	SO:0001819	synonymous_variant	3298				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:122744792A>T	M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.1137A>T	6.37:g.122744792A>T						HSF2_uc003pyv.2_Silent_p.S379S	p.S379S	NM_004506	NP_004497	Q03933	HSF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)	10	1324	+			379			Hydrophobic repeat HR-C.		B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Silent	SNP	ENST00000368455.4	37	c.1137A>T	CCDS5124.1																																																																																				0.343	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043520.1	NM_004506		5	179	0	0	0	0	5	179				
VTA1	51534	broad.mit.edu	37	6	142525136	142525136	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:142525136A>G	ENST00000367630.4	+	7	770	c.712A>G	c.(712-714)Act>Gct	p.T238A	VTA1_ENST00000452973.2_Intron|VTA1_ENST00000367621.1_Missense_Mutation_p.T180A	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	238	Interaction with VPS4B. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		AGCAAGTAATACTATCCAACC	0.383																																						uc003qiw.2		NA																	0					0						c.(712-714)ACT>GCT		Vps20-associated 1 homolog							142.0	126.0	132.0					6																	142525136		2203	4300	6503	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142525136A>G	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.712A>G	6.37:g.142525136A>G	ENSP00000356602:p.Thr238Ala					VTA1_uc011edt.1_RNA|VTA1_uc011edu.1_Intron	p.T238A	NM_016485	NP_057569	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	7	727	+	Breast(32;0.155)		238			Interaction with VPS4B (By similarity).		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.712A>G	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	A	8.383	0.838009	0.16891	.	.	ENSG00000009844	ENST00000367630;ENST00000367621	T;T	0.43688	0.94;0.94	5.79	4.64	0.57946	.	0.204061	0.50627	N	0.000104	T	0.04634	0.0126	N	0.01789	-0.72	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.35773	-0.9775	10	0.06625	T	0.88	-17.6644	6.8686	0.24108	0.8197:0.0:0.1803:0.0	.	238	Q9NP79	VTA1_HUMAN	A	238;180	ENSP00000356602:T238A;ENSP00000356593:T180A	ENSP00000356593:T180A	T	+	1	0	VTA1	142566829	0.997000	0.39634	0.997000	0.53966	0.906000	0.53458	0.473000	0.22132	1.026000	0.39733	0.533000	0.62120	ACT		0.383	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		14	89	0	0	0	0	14	89				
DNAH11	8701	broad.mit.edu	37	7	21747448	21747448	+	Silent	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:21747448T>C	ENST00000409508.3	+	40	6709	c.6678T>C	c.(6676-6678)gaT>gaC	p.D2226D	DNAH11_ENST00000328843.6_Silent_p.D2233D	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2233	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATGGAAAGATGGCAAGTAGT	0.388									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(6697-6699)GAT>GAC		dynein, axonemal, heavy chain 11							82.0	77.0	79.0					7																	21747448		1854	4098	5952	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21747448T>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6678T>C	7.37:g.21747448T>C							p.D2233D	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			41	6730	+			2233			AAA 2 (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.6699T>C																																																																																					0.388	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		22	39	0	0	0	0	22	39				
PCLO	27445	broad.mit.edu	37	7	82582565	82582565	+	Silent	SNP	A	A	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:82582565A>C	ENST00000333891.9	-	5	8041	c.7704T>G	c.(7702-7704)tcT>tcG	p.S2568S	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Silent_p.S2568S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCTTGGTGAAGACTTGTTGG	0.403																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(7702-7704)TCT>TCG		piccolo isoform 1							116.0	114.0	114.0					7																	82582565		1846	4098	5944	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82582565A>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7704T>G	7.37:g.82582565A>C						PCLO_uc003uhv.2_Silent_p.S2568S|PCLO_uc010lec.2_5'Flank	p.S2568S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	7993	-			2499						Silent	SNP	ENST00000333891.9	37	c.7704T>G	CCDS47630.1																																																																																				0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		53	135	0	0	0	0	53	135				
CLDN15	24146	broad.mit.edu	37	7	100876196	100876196	+	Splice_Site	SNP	C	C	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:100876196C>A	ENST00000401528.1	-	4	1508		c.e4-1		CLDN15_ENST00000308344.5_Splice_Site|CLDN15_ENST00000433422.1_5'Flank	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15						calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|ion transport (GO:0006811)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					CCGCAGATACCTGGGGACCGG	0.652																																						uc003uyg.1		NA																	0				ovary(1)	1						c.e3-1		claudin 15							42.0	38.0	39.0					7																	100876196		2203	4300	6503	SO:0001630	splice_region_variant	24146				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:100876196C>A	AJ245738	CCDS5717.1	7q22	2008-07-18			ENSG00000106404	ENSG00000106404		"""Claudins"""	2036	protein-coding gene	gene with protein product		615778					Standard	NM_014343		Approved		uc003uyg.2	P56746	OTTHUMG00000150512	ENST00000401528.1:c.383-1G>T	7.37:g.100876196C>A						CLDN15_uc003uyh.1_Splice_Site_p.G128_splice	p.G128_splice	NM_014343	NP_055158	P56746	CLD15_HUMAN			3	637	-	Lung NSC(181;0.168)|all_lung(186;0.215)							B3KPB5	Splice_Site	SNP	ENST00000401528.1	37	c.383_splice	CCDS5717.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917969	0.92249	.	.	ENSG00000106404	ENST00000308344;ENST00000401528;ENST00000414035;ENST00000412417	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5266	0.67892	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLDN15	100662916	1.000000	0.71417	0.487000	0.27428	0.803000	0.45373	6.993000	0.76245	2.006000	0.58801	0.555000	0.69702	.		0.652	CLDN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318698.1	NM_014343	Intron	3	23	1	0	2.56e-06	2.86e-06	3	23				
MYL10	93408	broad.mit.edu	37	7	101256788	101256788	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:101256788G>C	ENST00000223167.4	-	8	825	c.648C>G	c.(646-648)tgC>tgG	p.C216W		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	216	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TGATGACGTAGCACAGGTTTC	0.547																																					Esophageal Squamous(24;575 709 17516 40384 51639)	uc003uyr.2		NA																	0				ovary(1)|breast(1)	2						c.(646-648)TGC>TGG		myosin, light chain 10, regulatory							136.0	118.0	124.0					7																	101256788		2203	4300	6503	SO:0001583	missense	93408					mitochondrion	calcium ion binding	g.chr7:101256788G>C	BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.648C>G	7.37:g.101256788G>C	ENSP00000223167:p.Cys216Trp						p.C216W	NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN			8	826	-			216			EF-hand 3.			Missense_Mutation	SNP	ENST00000223167.4	37	c.648C>G	CCDS34713.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247514	0.59103	.	.	ENSG00000106436	ENST00000223167	T	0.78924	-1.22	4.84	3.95	0.45737	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87553	0.6206	M	0.84683	2.71	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	D	0.88353	0.2982	10	0.87932	D	0	.	10.929	0.47207	0.0927:0.0:0.9073:0.0	.	216	Q9BUA6	MYL10_HUMAN	W	216	ENSP00000223167:C216W	ENSP00000223167:C216W	C	-	3	2	MYL10	101043508	0.986000	0.35501	1.000000	0.80357	0.932000	0.56968	0.317000	0.19487	1.041000	0.40125	0.650000	0.86243	TGC		0.547	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		6	143	0	0	0	0	6	143				
FEZF1	389549	broad.mit.edu	37	7	121942225	121942225	+	Silent	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:121942225A>G	ENST00000442488.2	-	4	1321	c.1254T>C	c.(1252-1254)caT>caC	p.H418H	FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Silent_p.H368H|FEZF1_ENST00000331178.4_Silent_p.H414H	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	418					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GCTTGCGGACATGCTTCTTGA	0.632																																						uc003vkd.2		NA																	0				ovary(2)|breast(1)	3						c.(1252-1254)CAT>CAC		FEZ family zinc finger 1 isoform 1							125.0	109.0	114.0					7																	121942225		2203	4300	6503	SO:0001819	synonymous_variant	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121942225A>G	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.1254T>C	7.37:g.121942225A>G						FEZF1_uc003vkc.2_Silent_p.H368H|uc010lko.1_5'Flank	p.H418H	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN			4	1328	-			418			C2H2-type 6.		A0PJY3|A4D0W3|B4DUP9|B7ZM98	Silent	SNP	ENST00000442488.2	37	c.1254T>C	CCDS34741.2																																																																																				0.632	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		8	104	0	0	0	0	8	104				
EXOC4	60412	broad.mit.edu	37	7	133682355	133682355	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:133682355C>T	ENST00000253861.4	+	15	2346	c.2317C>T	c.(2317-2319)Cgc>Tgc	p.R773C	EXOC4_ENST00000545148.1_Missense_Mutation_p.R383C|EXOC4_ENST00000541309.1_Missense_Mutation_p.R61C|EXOC4_ENST00000539845.1_Missense_Mutation_p.R672C	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	773					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TATGGCTGACCGCTGCTTGCT	0.488																																						uc003vrk.2		NA																	0				ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9						c.(2317-2319)CGC>TGC		SEC8 protein isoform a							117.0	91.0	99.0					7																	133682355		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133682355C>T	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2317C>T	7.37:g.133682355C>T	ENSP00000253861:p.Arg773Cys					EXOC4_uc011kpo.1_Missense_Mutation_p.R672C|EXOC4_uc003vrl.2_Missense_Mutation_p.R383C|EXOC4_uc011kpp.1_Missense_Mutation_p.R305C|EXOC4_uc011kpq.1_Missense_Mutation_p.R61C	p.R773C	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN			15	2352	+		Esophageal squamous(399;0.129)	773					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.2317C>T	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800384	0.70567	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	L	0.52573	1.65	0.80722	D	1	P;P;B	0.44195	0.711;0.828;0.381	B;B;B	0.41440	0.045;0.357;0.03	T	0.61773	-0.6994	9	0.56958	D	0.05	.	19.0846	0.93198	0.0:1.0:0.0:0.0	.	305;383;773	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	C	773;392;672;383;61	.	ENSP00000253861:R773C	R	+	1	0	EXOC4	133332895	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.744000	0.68664	2.596000	0.87737	0.655000	0.94253	CGC		0.488	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		10	30	0	0	0	0	10	30				
TTC26	79989	broad.mit.edu	37	7	138827003	138827003	+	Splice_Site	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:138827003T>C	ENST00000464848.1	+	5	431	c.351T>C	c.(349-351)gcT>gcC	p.A117A	TTC26_ENST00000474035.2_Splice_Site_p.A117A|TTC26_ENST00000343187.4_Splice_Site_p.A86A|TTC26_ENST00000430935.1_Splice_Site_p.A117A|TTC26_ENST00000478836.2_Splice_Site_p.A117A|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000495038.1_Splice_Site_p.A117A			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	117					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TTTTTTCAGCTTCAAAAAGCC	0.353																																						uc003vus.2		NA																	0				ovary(1)	1						c.(349-351)GCT>GCC		tetratricopeptide repeat domain 26 isoform 1							102.0	105.0	104.0					7																	138827003		2203	4300	6503	SO:0001630	splice_region_variant	79989						binding	g.chr7:138827003T>C	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.350-1T>C	7.37:g.138827003T>C						TTC26_uc003vuq.2_Silent_p.A117A|TTC26_uc011kqm.1_Silent_p.A117A|TTC26_uc003vur.3_Silent_p.A117A|TTC26_uc011kqn.1_Silent_p.A117A|TTC26_uc011kqo.1_Silent_p.A86A|TTC26_uc011kqp.1_Silent_p.A12A|TTC26_uc003vut.2_5'UTR|TTC26_uc011kqq.1_Silent_p.A117A	p.A117A	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN			5	465	+			117			TPR 2.		A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Silent	SNP	ENST00000464848.1	37	c.351T>C	CCDS5852.1																																																																																				0.353	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926	Silent	40	106	0	0	0	0	40	106				
MGAM	8972	broad.mit.edu	37	7	141708357	141708357	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr7:141708357C>G	ENST00000549489.2	+	3	274	c.179C>G	c.(178-180)cCa>cGa	p.P60R	MGAM_ENST00000475668.2_Missense_Mutation_p.P60R	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	60	Ser/Thr-rich.				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)	ACTGGTACCCCAGATCCTGGA	0.483																																						uc003vwy.2		NA																	0				ovary(2)	2						c.(178-180)CCA>CGA		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						76.0	71.0	73.0					7																	141708357		1850	4097	5947	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141708357C>G	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.179C>G	7.37:g.141708357C>G	ENSP00000447378:p.Pro60Arg						p.P60R	NM_004668	NP_004659	O43451	MGA_HUMAN			3	233	+	Melanoma(164;0.0272)		60			Ser/Thr-rich.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.179C>G	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	4.169	0.029794	0.08101	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668	T;D;T	0.88818	-0.75;-2.43;0.71	1.95	1.05	0.20165	.	.	.	.	.	T	0.78868	0.4351	L	0.29908	0.895	0.09310	N	1	B	0.16802	0.019	B	0.15870	0.014	T	0.62440	-0.6854	9	0.25751	T	0.34	.	4.3537	0.11167	0.0:0.7958:0.0:0.2042	.	60	O43451	MGA_HUMAN	R	60	ENSP00000419372:P60R;ENSP00000447378:P60R;ENSP00000417103:P60R	ENSP00000373973:P60R	P	+	2	0	MGAM	141354826	0.153000	0.22777	0.004000	0.12327	0.012000	0.07955	0.847000	0.27696	0.385000	0.24970	0.655000	0.94253	CCA		0.483	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			12	29	0	0	0	0	12	29				
PRKDC	5591	broad.mit.edu	37	8	48868498	48868498	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr8:48868498G>A	ENST00000314191.2	-	4	391	c.335C>T	c.(334-336)aCc>aTc	p.T112I	PRKDC_ENST00000338368.3_Missense_Mutation_p.T112I|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	112					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATAAACACTGGTACAAGTGTT	0.308								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(334-336)ACC>ATC	NHEJ	protein kinase, DNA-activated, catalytic							50.0	46.0	48.0					8																	48868498		1796	4066	5862	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48868498G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.335C>T	8.37:g.48868498G>A	ENSP00000313420:p.Thr112Ile					PRKDC_uc003xqj.2_Missense_Mutation_p.T112I|PRKDC_uc011ldh.1_Missense_Mutation_p.T112I	p.T112I	NM_006904	NP_008835	P78527	PRKDC_HUMAN			4	392	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	112					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.335C>T		.	.	.	.	.	.	.	.	.	.	G	3.481	-0.105979	0.06924	.	.	ENSG00000253729	ENST00000314191;ENST00000338368;ENST00000540819	T;T	0.66280	-0.02;-0.2	5.78	3.96	0.45880	Armadillo-type fold (1);	0.316235	0.32161	N	0.006482	T	0.31575	0.0801	.	.	.	0.32291	N	0.56632	B;B;B	0.13145	0.002;0.003;0.007	B;B;B	0.09377	0.004;0.002;0.002	T	0.34650	-0.9820	9	0.02654	T	1	.	5.789	0.18349	0.3582:0.0:0.6418:0.0	.	112;112;112	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	I	112;112;17	ENSP00000313420:T112I;ENSP00000345182:T112I	ENSP00000313420:T112I	T	-	2	0	PRKDC	49031051	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.198000	0.58419	1.413000	0.46997	0.655000	0.94253	ACC		0.308	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		4	32	0	0	0	0	4	32				
SLCO5A1	81796	broad.mit.edu	37	8	70667779	70667779	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr8:70667779T>C	ENST00000260126.4	-	4	1844	c.1138A>G	c.(1138-1140)Aaa>Gaa	p.K380E	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.K380E|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.K380E	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	380	Poly-Lys.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TTTTTCTTTTTCTTTTTCTTG	0.383																																						uc003xyl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1138-1140)AAA>GAA		solute carrier organic anion transporter family,							73.0	71.0	72.0					8																	70667779		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70667779T>C	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1138A>G	8.37:g.70667779T>C	ENSP00000260126:p.Lys380Glu					SLCO5A1_uc010lzb.2_Missense_Mutation_p.K380E|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.K380E|SLCO5A1_uc010lzc.2_Missense_Mutation_p.K380E	p.K380E	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		4	1845	-	Breast(64;0.0654)		380			Cytoplasmic (Potential).|Poly-Lys.		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1138A>G	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.489186	0.64074	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.59502	1.19;1.19;0.26	5.38	5.38	0.77491	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	7.575550	0.00166	N	0.000010	T	0.59376	0.2189	L	0.31578	0.945	0.45490	D	0.998451	B;B;P;P	0.42584	0.22;0.045;0.784;0.604	B;B;P;B	0.47864	0.23;0.035;0.559;0.108	T	0.49615	-0.8921	10	0.08599	T	0.76	.	15.5495	0.76137	0.0:0.0:0.0:1.0	.	380;380;380;380	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	E	380	ENSP00000260126:K380E;ENSP00000434422:K380E;ENSP00000431611:K380E	ENSP00000260126:K380E	K	-	1	0	SLCO5A1	70830333	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.576000	0.82467	2.248000	0.74166	0.460000	0.39030	AAA		0.383	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		8	105	0	0	0	0	8	105				
HNRNPK	3190	broad.mit.edu	37	9	86587824	86587824	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr9:86587824G>C	ENST00000376264.2	-	10	838	c.580C>G	c.(580-582)Ctt>Gtt	p.L194V	RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000351839.3_Missense_Mutation_p.L194V|HNRNPK_ENST00000376263.3_Missense_Mutation_p.L194V|HNRNPK_ENST00000360384.5_Missense_Mutation_p.L194V|HNRNPK_ENST00000376281.4_Missense_Mutation_p.L194V	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	194	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with DDX1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CCTCCAATAAGAACAACTCTG	0.343																																						uc004ang.3		NA																	0				skin(1)	1						c.(580-582)CTT>GTT		heterogeneous nuclear ribonucleoprotein K							56.0	58.0	57.0					9																	86587824		2203	4300	6503	SO:0001583	missense	3190				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding	g.chr9:86587824G>C		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.580C>G	9.37:g.86587824G>C	ENSP00000365440:p.Leu194Val					HNRNPK_uc011lsw.1_5'UTR|HNRNPK_uc004and.3_5'UTR|HNRNPK_uc004ank.3_Missense_Mutation_p.L194V|HNRNPK_uc004anf.3_Missense_Mutation_p.L194V|HNRNPK_uc004anh.3_Missense_Mutation_p.L170V|HNRNPK_uc011lsx.1_Missense_Mutation_p.L170V|HNRNPK_uc004ani.3_Missense_Mutation_p.L194V|HNRNPK_uc004anj.3_Missense_Mutation_p.L194V|HNRNPK_uc004ann.3_Missense_Mutation_p.L170V|HNRNPK_uc004anl.3_Missense_Mutation_p.L194V|HNRNPK_uc004anm.3_Missense_Mutation_p.L194V	p.L194V	NM_031262	NP_112552	P61978	HNRPK_HUMAN			10	804	-			194			5 X 4 AA repeats of G-X-G-G.|Necessary for interaction with DDX1.|2 X 22 AA approximate repeats.|Interaction with ASFV p30.|KH 2.		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	37	c.580C>G	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897682	0.33535	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156;ENST00000376256	T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67	5.13	5.13	0.70059	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.34279	0.0892	L	0.33137	0.985	0.50813	D	0.99989	P;P;P;P;P;P;P;P	0.43578	0.645;0.645;0.698;0.698;0.775;0.592;0.583;0.811	B;B;B;P;P;B;P;P	0.52554	0.308;0.308;0.383;0.533;0.577;0.205;0.49;0.702	T	0.02574	-1.1139	10	0.02654	T	1	-6.3003	18.6033	0.91257	0.0:0.0:1.0:0.0	.	170;159;194;189;194;170;194;194	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	V	194;194;194;194;194;159;194;189;170;125	ENSP00000365458:L194V;ENSP00000365440:L194V;ENSP00000365439:L194V;ENSP00000317788:L194V;ENSP00000353552:L194V;ENSP00000409456:L170V	ENSP00000317788:L194V	L	-	1	0	HNRNPK	85777644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.889000	0.69766	2.375000	0.81037	0.655000	0.94253	CTT		0.343	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			10	116	0	0	0	0	10	116				
ZNF462	58499	broad.mit.edu	37	9	109688535	109688535	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr9:109688535A>G	ENST00000277225.5	+	3	2631	c.2342A>G	c.(2341-2343)tAc>tGc	p.Y781C	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.Y781C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	781					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACCCACGATTACAATGCCACC	0.448																																						uc004bcz.2		NA																	0				ovary(5)	5						c.(2341-2343)TAC>TGC		zinc finger protein 462							81.0	81.0	81.0					9																	109688535		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109688535A>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2342A>G	9.37:g.109688535A>G	ENSP00000277225:p.Tyr781Cys					ZNF462_uc010mto.2_Missense_Mutation_p.Y629C|ZNF462_uc004bda.2_Missense_Mutation_p.Y629C	p.Y781C	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	2631	+			781					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.2342A>G	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.596249	0.46318	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.05925	3.37;3.82	5.87	5.87	0.94306	.	0.174005	0.53938	D	0.000055	T	0.14874	0.0359	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.927;0.994	T	0.12630	-1.0540	9	.	.	.	.	16.2847	0.82712	1.0:0.0:0.0:0.0	.	781;781	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	C	781	ENSP00000277225:Y781C;ENSP00000414570:Y781C	.	Y	+	2	0	ZNF462	108728356	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	4.931000	0.63469	2.242000	0.73789	0.528000	0.53228	TAC		0.448	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		6	99	0	0	0	0	6	99				
LPAR1	1902	broad.mit.edu	37	9	113703901	113703901	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr9:113703901A>G	ENST00000374431.3	-	4	976	c.593T>C	c.(592-594)aTg>aCg	p.M198T	LPAR1_ENST00000538760.1_Missense_Mutation_p.M199T|LPAR1_ENST00000358883.4_Missense_Mutation_p.M198T|LPAR1_ENST00000541779.1_Missense_Mutation_p.M199T|LPAR1_ENST00000374430.2_Missense_Mutation_p.M198T	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	198					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|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 dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GAGGGGTGCCATGTTGGAACA	0.458																																					NSCLC(115;661 2323 9836 34256)	uc004bfa.2		NA																	0				ovary(2)	2						c.(592-594)ATG>ACG		lysophosphatidic acid receptor 1							165.0	152.0	156.0					9																	113703901		2203	4300	6503	SO:0001583	missense	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113703901A>G	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.593T>C	9.37:g.113703901A>G	ENSP00000363553:p.Met198Thr					LPAR1_uc011lwm.1_Missense_Mutation_p.M199T|LPAR1_uc004bfb.2_Missense_Mutation_p.M198T|LPAR1_uc004bfc.2_Missense_Mutation_p.M198T|LPAR1_uc011lwn.1_Missense_Mutation_p.M180T|LPAR1_uc011lwo.1_Missense_Mutation_p.M199T|LPAR1_uc010mub.2_Missense_Mutation_p.M198T	p.M198T	NM_057159	NP_476500	Q92633	LPAR1_HUMAN			4	848	-			198			Extracellular (Potential).		B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	c.593T>C	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796350	0.70567	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	5.39	5.39	0.77823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	L	0.40543	1.245	0.80722	D	1	D;D;D	0.55385	0.971;0.971;0.971	P;P;P	0.60012	0.867;0.867;0.867	T	0.49588	-0.8924	10	0.87932	D	0	.	14.5782	0.68265	1.0:0.0:0.0:0.0	.	199;199;198	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	T	198;199;198;198;180;199	ENSP00000363553:M198T;ENSP00000445697:M199T;ENSP00000363552:M198T;ENSP00000351755:M198T;ENSP00000440201:M199T	ENSP00000351755:M198T	M	-	2	0	LPAR1	112743722	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.051000	0.60960	0.533000	0.62120	ATG		0.458	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		90	67	0	0	0	0	90	67				
PHKA2	5256	broad.mit.edu	37	X	18924612	18924612	+	Splice_Site	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chrX:18924612C>T	ENST00000379942.4	-	25	3472		c.e25+1			NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)						carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGGCATCTCACCTGAGCAGTT	0.627																																						uc004cyv.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.e25+1		phosphorylase kinase, alpha 2 (liver)							54.0	48.0	50.0					X																	18924612		2203	4300	6503	SO:0001630	splice_region_variant	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18924612C>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2806+1G>A	X.37:g.18924612C>T						PHKA2_uc004cyu.3_Splice_Site_p.G234_splice|PHKA2_uc010nfe.1_5'Flank|PHKA2_uc010nff.1_5'Flank	p.G936_splice	NM_000292	NP_000283	P46019	KPB2_HUMAN			25	3236	-	Hepatocellular(33;0.183)							A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Splice_Site	SNP	ENST00000379942.4	37	c.2806_splice	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791517	0.50102	.	.	ENSG00000044446	ENST00000379942	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.196	0.89822	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHKA2	18834533	1.000000	0.71417	0.995000	0.50966	0.284000	0.27059	7.696000	0.84270	2.321000	0.78463	0.600000	0.82982	.		0.627	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292	Intron	24	55	0	0	0	0	24	55				
PTCHD1	139411	broad.mit.edu	37	X	23398142	23398142	+	Missense_Mutation	SNP	G	G	T	rs371418777		TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chrX:23398142G>T	ENST00000379361.4	+	2	1646	c.786G>T	c.(784-786)caG>caT	p.Q262H		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	262					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AAGATTTCCAGAAGACCAGCC	0.522																																						uc004dal.3		NA																	0				ovary(4)|kidney(1)|skin(1)	6						c.(784-786)CAG>CAT		patched domain containing 1							186.0	162.0	170.0					X																	23398142		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23398142G>T	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.786G>T	X.37:g.23398142G>T	ENSP00000368666:p.Gln262His					PTCHD1_uc010nfu.1_Missense_Mutation_p.Q262H	p.Q262H	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN			2	794	+			262					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.786G>T	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	G	4.723	0.134505	0.09032	.	.	ENSG00000165186	ENST00000379361	D	0.86164	-2.08	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.78368	0.4272	N	0.19112	0.55	0.44018	D	0.996739	B;B	0.19706	0.038;0.003	B;B	0.28553	0.091;0.02	T	0.72697	-0.4215	10	0.28530	T	0.3	.	11.017	0.47696	0.0878:0.0:0.9122:0.0	.	157;262	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	H	262	ENSP00000368666:Q262H	ENSP00000368666:Q262H	Q	+	3	2	PTCHD1	23308063	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.076000	0.50081	2.381000	0.81170	0.600000	0.82982	CAG		0.522	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		36	173	1	0	9.04e-19	1.05e-18	36	173				
WNK3	65267	broad.mit.edu	37	X	54334451	54334451	+	Silent	SNP	A	A	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chrX:54334451A>G	ENST00000375159.2	-	4	992	c.993T>C	c.(991-993)gtT>gtC	p.V331V	WNK3_ENST00000354646.2_Silent_p.V331V|WNK3_ENST00000375169.3_Silent_p.V331V			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	331	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						CAAAAGCATAAACATCTACGG	0.398																																						uc004dtd.1		NA																	0				lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(991-993)GTT>GTC		WNK lysine deficient protein kinase 3 isoform 2							180.0	148.0	159.0					X																	54334451		2203	4300	6503	SO:0001819	synonymous_variant	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54334451A>G	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.993T>C	X.37:g.54334451A>G						WNK3_uc004dtc.1_Silent_p.V331V	p.V331V	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			5	1432	-			331			Protein kinase.		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	ENST00000375159.2	37	c.993T>C	CCDS14357.1																																																																																				0.398	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		7	75	0	0	0	0	7	75				
SLC16A2	6567	broad.mit.edu	37	X	73740906	73740906	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chrX:73740906G>A	ENST00000587091.1	+	2	689	c.512G>A	c.(511-513)cGa>cAa	p.R171Q	SLC16A2_ENST00000276033.5_Missense_Mutation_p.R245Q	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	171					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TTGGGCTGCCGAATCACAGCA	0.537																																						uc004ebt.2		NA																	0				breast(2)|ovary(1)	3						c.(733-735)CGA>CAA		solute carrier family 16, member 2	Pyruvic acid(DB00119)						111.0	97.0	102.0					X																	73740906		2203	4300	6503	SO:0001583	missense	6567					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73740906G>A		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.512G>A	X.37:g.73740906G>A	ENSP00000465734:p.Arg171Gln						p.R245Q	NM_006517	NP_006508	P36021	MOT8_HUMAN			2	900	+			171			Cytoplasmic (Potential).		Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	c.734G>A	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	G	36	5.842120	0.97016	.	.	ENSG00000147100	ENST00000276033	T	0.69806	-0.43	5.9	5.9	0.94986	Major facilitator superfamily domain, general substrate transporter (1);	0.051548	0.85682	N	0.000000	T	0.81361	0.4806	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.79220	-0.1893	10	0.35671	T	0.21	.	18.7779	0.91918	0.0:0.0:1.0:0.0	.	171	P36021	MOT8_HUMAN	Q	245	ENSP00000276033:R245Q	ENSP00000276033:R245Q	R	+	2	0	SLC16A2	73657631	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.472000	0.97709	2.479000	0.83701	0.597000	0.82753	CGA		0.537	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			6	85	0	0	0	0	6	85				
CYLC1	1538	broad.mit.edu	37	X	83128622	83128622	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chrX:83128622C>G	ENST00000329312.4	+	4	943	c.906C>G	c.(904-906)gaC>gaG	p.D302E		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	302					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AATCTGAAGACTCAAAGGATG	0.323																																						uc004eei.1		NA																	0				ovary(4)|skin(1)	5						c.(904-906)GAC>GAG		cylicin, basic protein of sperm head							36.0	35.0	35.0					X																	83128622		2190	4295	6485	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128622C>G	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.906C>G	X.37:g.83128622C>G	ENSP00000331556:p.Asp302Glu					CYLC1_uc004eeh.1_Missense_Mutation_p.D301E	p.D302E	NM_021118	NP_066941	P35663	CYLC1_HUMAN			4	927	+			302			1		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.906C>G	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	7.963	0.747315	0.15710	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.22134	1.97	4.92	0.72	0.18214	.	.	.	.	.	T	0.15349	0.0370	M	0.64997	1.995	0.09310	N	1	B;B	0.30851	0.297;0.192	B;B	0.30179	0.112;0.063	T	0.33317	-0.9873	9	0.07030	T	0.85	-0.6833	3.4124	0.07363	0.203:0.4883:0.0:0.3087	.	302;302	P35663;F5H4V5	CYLC1_HUMAN;.	E	302	ENSP00000331556:D302E	ENSP00000331556:D302E	D	+	3	2	CYLC1	83015278	0.065000	0.20965	0.022000	0.16811	0.360000	0.29518	-0.322000	0.08007	0.116000	0.18110	0.600000	0.82982	GAC		0.323	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		10	52	0	0	0	0	10	52				
SPANXD	64648	broad.mit.edu	37	X	140786553	140786553	+	Missense_Mutation	SNP	G	G	T	rs370763873		TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chrX:140786553G>T	ENST00000370515.3	-	1	343	c.10C>A	c.(10-12)Caa>Aaa	p.Q4K		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	4						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					GCACTGGATTGTTTGTCCATT	0.507																																						uc004fbq.2		NA																	0					0						c.(10-12)CAA>AAA		SPANX family, member E							73.0	66.0	69.0					X																	140786553		2192	4282	6474	SO:0001583	missense	171489					cytoplasm|nucleus		g.chrX:140786553G>T	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 4"""	300670, 300671	"""SPANX family, member E"""	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.10C>A	X.37:g.140786553G>T	ENSP00000359546:p.Gln4Lys						p.Q4K	NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN			1	103	-	Acute lymphoblastic leukemia(192;7.65e-05)		4					Q5JWI1	Missense_Mutation	SNP	ENST00000370515.3	37	c.10C>A	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	g	0.013	-1.620825	0.00820	.	.	ENSG00000196406	ENST00000370515	T	0.06294	3.32	0.359	-0.718	0.11205	.	.	.	.	.	T	0.02494	0.0076	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.14023	0.01	T	0.45512	-0.9256	7	0.10111	T	0.7	.	.	.	.	.	4	Q9BXN6	SPNXD_HUMAN	K	4	ENSP00000359546:Q4K	ENSP00000359546:Q4K	Q	-	1	0	SPANXD	140614219	0.429000	0.25530	0.000000	0.03702	0.002000	0.02628	-1.123000	0.03263	-2.680000	0.00409	-1.970000	0.00465	CAA		0.507	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			43	184	1	0	3.37e-27	3.93e-27	43	184				
FMR1	2332	broad.mit.edu	37	X	147026445	147026445	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chrX:147026445C>T	ENST00000370475.4	+	15	1656	c.1528C>T	c.(1528-1530)Ctc>Ttc	p.L510F	FMR1-IT1_ENST00000441414.1_RNA|FMR1_ENST00000218200.8_Missense_Mutation_p.L489F|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000440235.2_Missense_Mutation_p.L157F|FMR1_ENST00000439526.2_Missense_Mutation_p.L487F|FMR1_ENST00000370470.1_Intron|FMR1_ENST00000370477.1_Missense_Mutation_p.L477F	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	510	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAGACGAACTCAGTGATTG	0.473									Fragile X syndrome																													uc010nst.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1528-1530)CTC>TTC		fragile X mental retardation 1							59.0	52.0	54.0					X																	147026445		2203	4300	6503	SO:0001583	missense	2332	Fragile_X_syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147026445C>T	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1528C>T	X.37:g.147026445C>T	ENSP00000359506:p.Leu510Phe					FMR1_uc004fcj.2_Missense_Mutation_p.L487F|FMR1_uc004fck.3_Intron|FMR1_uc004fcl.3_Missense_Mutation_p.L350F|FMR1_uc011mxa.1_Missense_Mutation_p.L157F	p.L510F	NM_002024	NP_002015	Q06787	FMR1_HUMAN			15	1717	+	Acute lymphoblastic leukemia(192;6.56e-05)		510			Interaction with RANBP9.		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	c.1528C>T	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929212	0.73327	.	.	ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000440235	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.96	5.96	0.96718	.	0.056396	0.64402	D	0.000001	T	0.58666	0.2138	L	0.58810	1.83	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.85130	0.948;0.997;0.995;0.983	T	0.56541	-0.7962	10	0.51188	T	0.08	-1.4216	18.1587	0.89702	0.0:1.0:0.0:0.0	.	157;510;405;487	F8W871;Q06787;Q59GC1;G3V0J0	.;FMR1_HUMAN;.;.	F	489;477;510;487;157	ENSP00000218200:L489F;ENSP00000359508:L477F;ENSP00000359506:L510F;ENSP00000395923:L487F;ENSP00000413764:L157F	ENSP00000218200:L489F	L	+	1	0	FMR1	146834137	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.488000	0.66869	2.512000	0.84698	0.594000	0.82650	CTC		0.473	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		3	59	0	0	0	0	3	59				
SLC9C2	284525	broad.mit.edu	37	1	173552688	173552688	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr1:173552688delA	ENST00000367714.3	-	6	1019	c.597delT	c.(595-597)tttfs	p.F199fs	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Frame_Shift_Del_p.F97fs	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	199					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										GAAAATTTCCAAAAAAAATTG	0.279																																						uc001giz.2		NA																	0				ovary(2)	2						c.(595-597)TTTfs		solute carrier family 9, member 11							52.0	56.0	54.0					1																	173552688		2203	4298	6501	SO:0001589	frameshift_variant	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173552688delA	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.597delT	1.37:g.173552688delA	ENSP00000356687:p.Phe199fs					SLC9A11_uc010pmq.1_RNA	p.F199fs	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			6	1020	-			199			Helical; (Potential).		Q86UF3	Frame_Shift_Del	DEL	ENST00000367714.3	37	c.597delT	CCDS1308.1																																																																																				0.279	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		11	107	NA	NA	NA	NA	11	107	---	---	---	---
DCN	1634	broad.mit.edu	37	12	91558464	91558464	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr12:91558464delG	ENST00000052754.5	-	3	743	c.242delC	c.(241-243)cctfs	p.P81fs	DCN_ENST00000547568.2_Intron|DCN_ENST00000552962.1_Frame_Shift_Del_p.P81fs|DCN_ENST00000228329.5_Intron|DCN_ENST00000420120.2_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000303320.3_Frame_Shift_Del_p.P81fs|DCN_ENST00000425043.1_Intron|DCN_ENST00000441303.2_Frame_Shift_Del_p.P81fs|DCN_ENST00000393155.1_Frame_Shift_Del_p.P81fs	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	81					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						AGTTGTGTCAGGGGGAAGATC	0.403																																						uc001tbs.2		NA																	0				central_nervous_system(2)|ovary(1)|lung(1)	4						c.(241-243)CCTfs		decorin isoform a preproprotein							120.0	109.0	113.0					12																	91558464		2203	4300	6503	SO:0001589	frameshift_variant	1634				organ morphogenesis	extracellular space		g.chr12:91558464delG	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.242delC	12.37:g.91558464delG	ENSP00000052754:p.Pro81fs					DCN_uc001tbo.2_Intron|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Frame_Shift_Del_p.P81fs|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Frame_Shift_Del_p.P81fs|DCN_uc001tbu.2_Frame_Shift_Del_p.P81fs	p.P81fs	NM_133503	NP_598010	P07585	PGS2_HUMAN			2	336	-			81			LRR 1.		Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Frame_Shift_Del	DEL	ENST00000052754.5	37	c.242delC	CCDS9039.1																																																																																				0.403	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		10	75	NA	NA	NA	NA	10	75	---	---	---	---
FBXO33	254170	broad.mit.edu	37	14	39871062	39871078	+	Splice_Site	DEL	AATTCTATAAGGAAAAC	AATTCTATAAGGAAAAC	-	rs368690413		TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr14:39871062_39871078delAATTCTATAAGGAAAAC	ENST00000298097.7	-	3	1048_1051	c.711_714delGTTTTCCTTATAGAATT	c.(709-714)cagttt>ca	p.QF237fs	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	237					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		ACAGTTGCTGAATTCTATAAGGAAAACACATGCCACA	0.364																																						uc001wvk.2		NA																	0					0						c.e3-1		F-box protein 33																																				SO:0001630	splice_region_variant	254170							g.chr14:39871062_39871078delAATTCTATAAGGAAAAC	BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"""F-boxes /  ""other"""""	19833	protein-coding gene	gene with protein product		609103	"""F-box only protein 33"""				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.711-1GTTTTCCTTATAGAATT>-	14.37:g.39871062_39871078delAATTCTATAAGGAAAAC							p.Q237_splice	NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)	3	1049	-	Hepatocellular(127;0.213)							Q6PIR2|Q86TR2|Q86YE0	Splice_Site	DEL	ENST00000298097.7	37	c.711_splice	CCDS9677.1																																																																																				0.364	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276769.2		Frame_Shift_Del	22	85	NA	NA	NA	NA	22	85	---	---	---	---
ZNF513	130557	broad.mit.edu	37	2	27600905	27600905	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:27600905delT	ENST00000323703.6	-	4	1331	c.1133delA	c.(1132-1134)cacfs	p.H378fs	ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_Frame_Shift_Del_p.H316fs	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	378					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCTTCATGTGCCGGGCCAG	0.622																																						uc002rkk.2		NA																	0				ovary(1)	1						c.(1132-1134)CACfs		zinc finger protein 513							107.0	124.0	118.0					2																	27600905		2203	4300	6503	SO:0001589	frameshift_variant	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27600905delT	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1133delA	2.37:g.27600905delT	ENSP00000318373:p.His378fs					ZNF513_uc002rkj.2_Frame_Shift_Del_p.H316fs	p.H378fs	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN			4	1333	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		378			C2H2-type 4.		A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Frame_Shift_Del	DEL	ENST00000323703.6	37	c.1133delA	CCDS1751.1																																																																																				0.622	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		48	229	NA	NA	NA	NA	48	229	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73678468	73678468	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr2:73678468delA	ENST00000264448.6	+	8	4922	c.4811delA	c.(4810-4812)gaafs	p.E1604fs	ALMS1_ENST00000377715.1_Frame_Shift_Del_p.E1604fs|ALMS1_ENST00000409009.1_Frame_Shift_Del_p.E1562fs	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1604	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGACCTACTGAAAAAAAGACT	0.453																																						uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(4816-4818)GAAfs		Alstrom syndrome 1							79.0	80.0	79.0					2																	73678468		1844	4102	5946	SO:0001589	frameshift_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73678468delA	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.4811delA	2.37:g.73678468delA	ENSP00000264448:p.Glu1604fs					ALMS1_uc002sjf.1_Frame_Shift_Del_p.E1562fs|ALMS1_uc002sjg.2_Frame_Shift_Del_p.E992fs|ALMS1_uc002sjh.1_Frame_Shift_Del_p.E992fs	p.E1606fs	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	4928	+			1604			23.|34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Frame_Shift_Del	DEL	ENST00000264448.6	37	c.4817delA	CCDS42697.1																																																																																				0.453	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		11	138	NA	NA	NA	NA	11	138	---	---	---	---
HLA-F	3134	broad.mit.edu	37	6	29694802	29694803	+	IGR	INS	-	-	T	rs17875385		TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr6:29694802_29694803insT	ENST00000376861.1	+	0	1544				HLA-F_ENST00000259951.7_Frame_Shift_Ins_p.F394fs|HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535																																						uc003nno.3		NA																	0					0						c.(1177-1182)TTGTTTfs		major histocompatibility complex, class I, F				16,3332		2,12,1660						-0.3	0.3		dbSNP_124	229	17,6555		4,9,3273	no	frameshift	HLA-F	NM_001098479.1		6,21,4933	A1A1,A1R,RR		0.2587,0.4779,0.3327				33,9887				SO:0001628	intergenic_variant	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29694802_29694803insT	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694810_29694810dupT						HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron|LOC285830_uc003nnp.2_RNA|LOC285830_uc011dlz.1_RNA	p.L393fs	NM_001098479	NP_001091949	P30511	HLAF_HUMAN			7	1303_1304	+			Error:Variant_position_missing_in_P30511_after_alignment					Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Frame_Shift_Ins	INS	ENST00000376861.1	37	c.1179_1180insT	CCDS43438.1																																																																																				0.535	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		7	401	NA	NA	NA	NA	7	401	---	---	---	---
C9orf172	389813	broad.mit.edu	37	9	139739061	139739062	+	Frame_Shift_Ins	INS	-	-	A	rs555441027	byFrequency	TCGA-CN-5367-01A-01D-1434-08	TCGA-CN-5367-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57adb398-48c5-4a14-a43e-f79a19befbda	3c6ca4c1-7112-4c0c-9d21-b00717fcd4de	g.chr9:139739061_139739062insA	ENST00000436881.1	+	1	195_196	c.195_196insA	c.(196-198)accfs	p.T66fs		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	66										endometrium(2)|large_intestine(1)|lung(6)	9						CGGCCATGGAGACCCTGCCGGA	0.762																																						uc011meh.1		NA																	0					0						c.(193-198)GAGACCfs		chromosome 9 open reading frame 172																																				SO:0001589	frameshift_variant	389813							g.chr9:139739061_139739062insA		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.196dupA	9.37:g.139739062_139739062dupA	ENSP00000412388:p.Thr66fs						p.E65fs	NM_001080482	NP_001073951	C9J069	CI172_HUMAN			1	195_196	+			65_66						Frame_Shift_Ins	INS	ENST00000436881.1	37	c.195_196insA	CCDS48059.1																																																																																				0.762	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		5	4	NA	NA	NA	NA	5	4	---	---	---	---
