#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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DDX47	51202	broad.mit.edu	37	12	12974651	12974651	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr12:12974651A>G	ENST00000358007.3	+	4	455	c.433A>G	c.(433-435)Ata>Gta	p.I145V	DDX47_ENST00000352940.4_Missense_Mutation_p.I145V	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	145	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		AAAACCACATATAATAATAGG	0.358																																						ENST00000358007.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(433-435)Ata>Gta		DEAD (Asp-Glu-Ala-Asp) box polypeptide 47							87.0	88.0	88.0					12																	12974651		2203	4300	6503	SO:0001583	missense	51202					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr12:12974651A>G	AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.433A>G	12.37:g.12974651A>G	ENSP00000350698:p.Ile145Val					RP11-59H1.3_ENST00000534843.1_3'UTR|DDX47_ENST00000352940.4_Missense_Mutation_p.I145V	p.I145V	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0354)	4	455	+		Prostate(47;0.0526)	145			Helicase ATP-binding.		B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	ENST00000358007.3	37	c.433A>G	CCDS8655.1	.	.	.	.	.	.	.	.	.	.	A	0.890	-0.725765	0.03158	.	.	ENSG00000213782	ENST00000352940;ENST00000358007;ENST00000544400	T;T;T	0.55052	0.54;1.96;0.54	5.09	-4.32	0.03688	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.497399	0.22137	N	0.064116	T	0.32585	0.0834	L	0.28054	0.825	0.20764	N	0.999851	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12837	0.008;0.003;0.008	T	0.32161	-0.9917	10	0.08599	T	0.76	-1.7387	16.2272	0.82306	0.3132:0.0:0.6868:0.0	.	145;145;145	Q9H4E3;G5E955;Q9H0S4	.;.;DDX47_HUMAN	V	145;145;82	ENSP00000319578:I145V;ENSP00000350698:I145V;ENSP00000444000:I82V	ENSP00000319578:I145V	I	+	1	0	DDX47	12865918	0.000000	0.05858	0.106000	0.21319	0.868000	0.49771	-1.372000	0.02570	-0.705000	0.05035	-0.388000	0.06559	ATA		0.358	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400674.1	NM_016355		12	42	0	0	0	0.479597	0	12	42				
ALDH1L1	10840	broad.mit.edu	37	3	125824617	125824617	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:125824617C>G	ENST00000393434.2	-	22	2954	c.2605G>C	c.(2605-2607)Gcc>Ccc	p.A869P	ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A869P|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A768P|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A879P|ALDH1L1_ENST00000393431.2_3'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	869	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AAGGGAGCGGCCACGTCGGTC	0.488																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(2605-2607)Gcc>Ccc		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						199.0	189.0	193.0					3																	125824617		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125824617C>G	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2605G>C	3.37:g.125824617C>G	ENSP00000377083:p.Ala869Pro					ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A879P|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A869P|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A768P	p.A869P	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	22	2954	-			869			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.2605G>C	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643585	0.87859	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	4.53	4.53	0.55603	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.86698	0.5995	M	0.72576	2.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.88180	0.2870	10	0.72032	D	0.01	.	14.7775	0.69740	0.0:1.0:0.0:0.0	.	768;404;869	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	P	879;869;768;869	ENSP00000273450:A879P;ENSP00000420293:A869P;ENSP00000395881:A768P;ENSP00000377083:A869P	ENSP00000273450:A879P	A	-	1	0	ALDH1L1	127307307	1.000000	0.71417	0.995000	0.50966	0.820000	0.46376	7.380000	0.79704	2.329000	0.79093	0.591000	0.81541	GCC		0.488	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		40	125	0	0	0	0.870114	0	40	125				
TNXB	7148	broad.mit.edu	37	6	32011583	32011583	+	Missense_Mutation	SNP	C	C	T	rs550641852		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr6:32011583C>T	ENST00000375244.3	-	35	11674	c.11473G>A	c.(11473-11475)Gtg>Atg	p.V3825M	TNXB_ENST00000375247.2_Missense_Mutation_p.V3823M|TNXB_ENST00000451343.1_Missense_Mutation_p.V254M			P22105	TENX_HUMAN	tenascin XB	3870	Fibronectin type-III 30. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCGAGACCACGGTCACCTCA	0.627																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(11473-11475)Gtg>Atg		tenascin XB							96.0	117.0	109.0					6																	32011583		1511	2709	4220	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32011583C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.11473G>A	6.37:g.32011583C>T	ENSP00000364393:p.Val3825Met					TNXB_ENST00000451343.1_Missense_Mutation_p.V254M|TNXB_ENST00000375247.2_Missense_Mutation_p.V3823M	p.V3825M			P22105	TENX_HUMAN			35	11674	-			3870			Fibronectin type-III 30.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.11473G>A		.	.	.	.	.	.	.	.	.	.	C	17.07	3.294061	0.60086	.	.	ENSG00000168477	ENST00000375244;ENST00000451343;ENST00000375247	T;T;T	0.74106	-0.81;-0.81;-0.81	5.91	5.04	0.67666	.	0.000000	0.53938	D	0.000056	D	0.83876	0.5349	M	0.91818	3.245	0.43462	D	0.995663	D	0.59357	0.985	P	0.56398	0.797	D	0.88337	0.2972	10	0.87932	D	0	.	16.1699	0.81801	0.0:0.8662:0.1338:0.0	.	3823	P22105-3	.	M	3825;254;3823	ENSP00000364393:V3825M;ENSP00000407685:V254M;ENSP00000364396:V3823M	ENSP00000364393:V3825M	V	-	1	0	TNXB	32119562	0.858000	0.29795	0.897000	0.35233	0.153000	0.21895	1.619000	0.36965	1.514000	0.48869	-0.150000	0.13652	GTG		0.627	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		24	129	0	0	0	0.693898	0	24	129				
MAGEA6	4105	broad.mit.edu	37	X	151869994	151869994	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chrX:151869994A>C	ENST00000329342.5	+	3	909	c.684A>C	c.(682-684)ttA>ttC	p.L228F		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	228	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTGTGTTAGAGGTGTTTG	0.527																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(682-684)ttA>ttC		melanoma antigen family A, 6							159.0	155.0	156.0					X																	151869994		2202	4300	6502	SO:0001583	missense	4105						protein binding	g.chrX:151869994A>C		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.684A>C	X.37:g.151869994A>C	ENSP00000329199:p.Leu228Phe						p.L228F	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	909	+	Acute lymphoblastic leukemia(192;6.56e-05)		228			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.684A>C	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	a	6.712	0.500072	0.12762	.	.	ENSG00000197172	ENST00000329342;ENST00000457643	T;T	0.08008	3.14;3.14	0.605	-1.21	0.09524	.	.	.	.	.	T	0.09949	0.0244	M	0.68952	2.095	0.09310	N	1	P	0.41929	0.765	B	0.42593	0.392	T	0.12708	-1.0537	8	0.72032	D	0.01	.	.	.	.	.	228	P43360	MAGA6_HUMAN	F	228	ENSP00000329199:L228F;ENSP00000401806:L228F	ENSP00000329199:L228F	L	+	3	2	MAGEA6	151620650	0.001000	0.12720	0.002000	0.10522	0.194000	0.23727	-0.269000	0.08596	-1.214000	0.02614	-1.201000	0.01664	TTA		0.527	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		14	140	0	0	0	0.575678	0	14	140				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			3	64	0	0	0	0.150653	0	3	64				
AHSG	197	broad.mit.edu	37	3	186338454	186338454	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:186338454C>T	ENST00000273784.5	+	7	918	c.842C>T	c.(841-843)tCc>tTc	p.S281F	AHSG_ENST00000411641.2_Missense_Mutation_p.S280F	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	280					acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCACCTCCGTCCCCTCCACTT	0.627																																						ENST00000411641.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22						c.(838-840)tCc>tTc		alpha-2-HS-glycoprotein							114.0	118.0	117.0					3																	186338454		2203	4300	6503	SO:0001583	missense	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186338454C>T	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.842C>T	3.37:g.186338454C>T	ENSP00000273784:p.Ser281Phe					AHSG_ENST00000273784.5_Missense_Mutation_p.S281F	p.S280F			P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	7	1058	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		280					A8K9N6|B2R7G1|O14961|O14962|Q9P152	Missense_Mutation	SNP	ENST00000273784.5	37	c.839C>T		.	.	.	.	.	.	.	.	.	.	c	14.13	2.444277	0.43429	.	.	ENSG00000145192	ENST00000411641;ENST00000541510;ENST00000273784	T;T	0.05382	3.45;3.45	5.5	1.58	0.23477	.	1.577980	0.03211	N	0.176208	T	0.11239	0.0274	L	0.50333	1.59	0.09310	N	1	P;D;P	0.53151	0.956;0.958;0.883	P;P;B	0.48654	0.585;0.558;0.438	T	0.17319	-1.0373	10	0.56958	D	0.05	.	4.7736	0.13167	0.0:0.5828:0.1574:0.2598	.	346;280;281	F5H0Q5;P02765;C9JV77	.;FETUA_HUMAN;.	F	280;346;281	ENSP00000393887:S280F;ENSP00000273784:S281F	ENSP00000273784:S281F	S	+	2	0	AHSG	187821148	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.191000	0.09601	0.343000	0.23821	-0.140000	0.14226	TCC		0.627	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		43	163	0	0	0	0.870114	0	43	163				
KIF2B	84643	broad.mit.edu	37	17	51901055	51901055	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr17:51901055C>T	ENST00000268919.4	+	1	817	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	221	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R221W(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGTGAGGAAGCGGCCTCTCAA	0.547																																						ENST00000268919.4																			1	Substitution - Missense(1)	p.R221W(1)	endometrium(1)	NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(661-663)Cgg>Tgg		kinesin family member 2B							89.0	75.0	80.0					17																	51901055		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901055C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.661C>T	17.37:g.51901055C>T	ENSP00000268919:p.Arg221Trp						p.R221W	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	817	+			221			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.661C>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275044	0.59649	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	D	0.85339	-1.97	5.37	1.71	0.24356	Kinesin, motor domain (4);	0.000000	0.48286	D	0.000189	D	0.95040	0.8394	H	0.99746	4.745	0.38802	D	0.955222	D	0.89917	1.0	D	0.97110	1.0	D	0.93488	0.6833	10	0.87932	D	0	.	7.9675	0.30109	0.3653:0.5526:0.0:0.0822	.	221	Q8N4N8	KIF2B_HUMAN	W	221;144	ENSP00000268919:R221W	ENSP00000268919:R221W	R	+	1	2	KIF2B	49256054	0.989000	0.36119	0.993000	0.49108	0.983000	0.72400	0.363000	0.20301	0.712000	0.32039	0.655000	0.94253	CGG		0.547	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		8	19	0	0	0	0.335167	0	8	19				
CROCCP3	114819	broad.mit.edu	37	1	16809784	16809784	+	RNA	SNP	T	T	G	rs564105362	byFrequency	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr1:16809784T>G	ENST00000263511.4	-	0	2001					NR_023386.1		Q8IVE0	CROL2_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 3						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCCGGCACCTTCTCAGGAGCT	0.632													.|||	29	0.00579073	0.0083	0.0043	5008	,	,		12250	0.0069		0.005	False		,,,				2504	0.0031					ENST00000263511.4																			0																																																			0							g.chr1:16809784T>G	AB067509		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000080947	ENSG00000080947			29405	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 2"""	CROCCL2		11572484	Standard	NR_023386		Approved	KIAA1922	uc001ayt.2	Q8IVE0	OTTHUMG00000037885		1.37:g.16809784T>G								NR_023386.1						0	2001	-								Q96PW6	RNA	SNP	ENST00000263511.4	37																																																																																						0.632	CROCCP3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000458172.1	XM_057040		3	6	0	0	0	0.150653	0	3	6				
SPTA1	6708	broad.mit.edu	37	1	158637824	158637824	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr1:158637824T>A	ENST00000368147.4	-	15	2042	c.1862A>T	c.(1861-1863)cAa>cTa	p.Q621L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	621					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGCTGCTTTTGAACCCTGCT	0.388																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1861-1863)cAa>cTa		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							189.0	177.0	181.0					1																	158637824		1835	4086	5921	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158637824T>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1862A>T	1.37:g.158637824T>A	ENSP00000357129:p.Gln621Leu					SPTA1_ENST00000368147.3_Missense_Mutation_p.Q621L	p.Q621L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			15	2042	-	all_hematologic(112;0.0378)		621					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1862A>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.965124	0.53507	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.53640	0.61;0.61	5.13	3.98	0.46160	.	0.000000	0.30890	N	0.008669	T	0.35248	0.0925	M	0.69463	2.115	0.46356	D	0.999004	B	0.22983	0.078	B	0.36766	0.232	T	0.27839	-1.0062	10	0.40728	T	0.16	.	10.2374	0.43290	0.1485:0.0:0.0:0.8515	.	621	P02549	SPTA1_HUMAN	L	621	ENSP00000357130:Q621L;ENSP00000357129:Q621L	ENSP00000357129:Q621L	Q	-	2	0	SPTA1	156904448	1.000000	0.71417	0.985000	0.45067	0.943000	0.58893	5.110000	0.64622	0.943000	0.37553	0.528000	0.53228	CAA		0.388	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		4	189	0	0	0	0.184627	0	4	189				
IRGQ	126298	broad.mit.edu	37	19	44096224	44096224	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:44096224C>T	ENST00000602269.1	-	2	2011	c.1826G>A	c.(1825-1827)cGg>cAg	p.R609Q	IRGQ_ENST00000601520.1_Intron|L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000422989.1_Missense_Mutation_p.R609Q			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	609	Ala-rich.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				AGCATCAGCCCGCATCTCATC	0.672																																						ENST00000422989.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(1825-1827)cGg>cAg		immunity-related GTPase family, Q							58.0	67.0	64.0					19																	44096224		2201	4295	6496	SO:0001583	missense	126298						protein binding	g.chr19:44096224C>T	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1826G>A	19.37:g.44096224C>T	ENSP00000472250:p.Arg609Gln					L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000602269.1_Missense_Mutation_p.R609Q|IRGQ_ENST00000601520.1_Intron	p.R609Q	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN			3	1981	-		Prostate(69;0.0199)	609			Ala-rich.		B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	c.1826G>A	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	C	0.646	-0.811314	0.02798	.	.	ENSG00000167378	ENST00000422989	T	0.42131	0.98	4.9	-9.8	0.00490	.	1.952540	0.02394	N	0.080018	T	0.14614	0.0353	N	0.02011	-0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.20940	-1.0260	10	0.25751	T	0.34	-6.757	6.951	0.24546	0.1997:0.3329:0.0:0.4674	.	609	Q8WZA9	IRGQ_HUMAN	Q	609	ENSP00000387535:R609Q	ENSP00000387535:R609Q	R	-	2	0	IRGQ	48788064	0.002000	0.14202	0.156000	0.22583	0.020000	0.10135	-3.362000	0.00497	-3.136000	0.00234	-1.194000	0.01681	CGG		0.672	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		4	145	0	0	0	0.184627	0	4	145				
PTCHD2	57540	broad.mit.edu	37	1	11596429	11596429	+	Missense_Mutation	SNP	G	G	A	rs545099796		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr1:11596429G>A	ENST00000294484.6	+	21	4003	c.3865G>A	c.(3865-3867)Gtg>Atg	p.V1289M	PTCHD2_ENST00000304391.6_Missense_Mutation_p.R175H|PTCHD2_ENST00000389575.3_Missense_Mutation_p.V1289M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1289					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGTGCGGCACGTGGGCGTGGC	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16595	0.0		0.0	False		,,,				2504	0.0					ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(3865-3867)Gtg>Atg		patched domain containing 2							73.0	76.0	75.0					1																	11596429		2190	4267	6457	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11596429G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3865G>A	1.37:g.11596429G>A	ENSP00000294484:p.Val1289Met					PTCHD2_ENST00000389575.3_Missense_Mutation_p.V1289M|PTCHD2_ENST00000304391.6_Missense_Mutation_p.R175H	p.V1289M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	21	4003	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	1289					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.3865G>A	CCDS41247.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.70|18.70	3.680972|3.680972	0.68042|0.68042	.|.	.|.	ENSG00000204624|ENSG00000204624	ENST00000304391|ENST00000294484;ENST00000389575	.|D;D	.|0.92397	.|-3.03;-2.09	4.89|4.89	4.89|4.89	0.63831|0.63831	.|Membrane transport protein, MMPL type (1);	.|0.000000	.|0.64402	.|D	.|0.000005	D|D	0.91456|0.91456	0.7303|0.7303	N|N	0.19112|0.19112	0.55|0.55	0.46521|0.46521	D|D	0.999088|0.999088	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	D|D	0.87454|0.87454	0.2403|0.2403	6|10	0.87932|0.07325	D|T	0|0.83	-23.8108|-23.8108	17.0791|17.0791	0.86593|0.86593	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1289	.|Q9P2K9	.|PTHD2_HUMAN	H|M	175|1289	.|ENSP00000294484:V1289M;ENSP00000374226:V1289M	ENSP00000303400:R175H|ENSP00000294484:V1289M	R|V	+|+	2|1	0|0	PTCHD2|PTCHD2	11519016|11519016	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	6.347000|6.347000	0.73004|0.73004	2.256000|2.256000	0.74724|0.74724	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.667	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		19	36	0	0	0	0.557998	0	19	36				
TCHH	7062	broad.mit.edu	37	1	152084627	152084627	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr1:152084627C>G	ENST00000368804.1	-	2	1065	c.1066G>C	c.(1066-1068)Gag>Cag	p.E356Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	356	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.E356Q(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctctcctcctcctgctcgcgc	0.716																																						ENST00000368804.1																			1	Substitution - Missense(1)	p.E356Q(1)	kidney(1)	NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(1066-1068)Gag>Cag		trichohyalin																																				SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152084627C>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1066G>C	1.37:g.152084627C>G	ENSP00000357794:p.Glu356Gln						p.E356Q	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1065	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		356			5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.1066G>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	N	7.510	0.654399	0.14580	.	.	ENSG00000159450	ENST00000368804	T	0.05319	3.46	3.05	-0.676	0.11361	.	.	.	.	.	T	0.00845	0.0028	N	0.08118	0	0.09310	N	1	B	0.17852	0.024	B	0.06405	0.002	T	0.47509	-0.9112	9	0.21540	T	0.41	.	6.5749	0.22560	0.0:0.3165:0.5607:0.1228	.	356	Q07283	TRHY_HUMAN	Q	356	ENSP00000357794:E356Q	ENSP00000357794:E356Q	E	-	1	0	TCHH	150351251	0.000000	0.05858	0.021000	0.16686	0.029000	0.11900	-0.248000	0.08854	0.122000	0.18314	0.441000	0.28932	GAG		0.716	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		5	71	0	0	0	0.248553	0	5	71				
AP2M1	1173	broad.mit.edu	37	3	183901338	183901338	+	Silent	SNP	C	C	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:183901338C>T	ENST00000292807.5	+	12	1390	c.1242C>T	c.(1240-1242)agC>agT	p.S414S	EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Silent_p.S412S|ABCF3_ENST00000429586.2_5'Flank|ABCF3_ENST00000292808.5_5'Flank|AP2M1_ENST00000411763.2_Silent_p.S439S|AP2M1_ENST00000461733.1_3'UTR|AP2M1_ENST00000439647.1_Silent_p.S412S	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	414	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGAACTACAGCGACCATGATG	0.557																																						ENST00000382456.3																			0				endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1234-1236)agC>agT		adaptor-related protein complex 2, mu 1 subunit							79.0	86.0	84.0					3																	183901338		2049	4187	6236	SO:0001819	synonymous_variant	1173				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity	g.chr3:183901338C>T	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.1242C>T	3.37:g.183901338C>T						AP2M1_ENST00000461733.1_3'UTR|AP2M1_ENST00000439647.1_Silent_p.S412S|AP2M1_ENST00000292807.5_Silent_p.S414S|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000411763.2_Silent_p.S439S	p.S412S	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		11	1550	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		414			MHD.		A6NE12|D3DNT1|P20172|P53679	Silent	SNP	ENST00000292807.5	37	c.1236C>T	CCDS43177.1																																																																																				0.557	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1	NM_004068		16	51	0	0	0	0.557998	0	16	51				
PTCHD4	442213	broad.mit.edu	37	6	47846113	47846113	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr6:47846113C>T	ENST00000339488.4	-	3	2500	c.2467G>A	c.(2467-2469)Gcc>Acc	p.A823T		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	823						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TTTCGCTTGGCACGTTTCTTT	0.438																																						ENST00000339488.4																			0											c.(2467-2469)Gcc>Acc		patched domain containing 4							138.0	139.0	139.0					6																	47846113		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846113C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2467G>A	6.37:g.47846113C>T	ENSP00000341914:p.Ala823Thr						p.A823T	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	2500	-			823					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.2467G>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731491	0.48939	.	.	ENSG00000244694	ENST00000339488	D	0.92099	-2.97	6.16	5.29	0.74685	.	0.180038	0.47852	D	0.000210	T	0.79094	0.4388	N	0.14661	0.345	0.80722	D	1	P	0.37525	0.598	B	0.39771	0.309	T	0.80564	-0.1326	10	0.12430	T	0.62	.	17.6102	0.88050	0.0:0.8767:0.1233:0.0	.	823	Q6ZW05	CF138_HUMAN	T	823	ENSP00000341914:A823T	ENSP00000341914:A823T	A	-	1	0	C6orf138	47954072	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	7.175000	0.77632	1.593000	0.50029	0.650000	0.86243	GCC		0.438	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		26	67	0	0	0	0.717897	0	26	67				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		3	27	0	0	0	0.150653	0	3	27				
STAG2	10735	broad.mit.edu	37	X	123179182	123179182	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chrX:123179182C>G	ENST00000371160.1	+	8	921	c.631C>G	c.(631-633)Caa>Gaa	p.Q211E	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.Q211E|STAG2_ENST00000218089.9_Missense_Mutation_p.Q211E|STAG2_ENST00000371157.3_Missense_Mutation_p.Q211E|STAG2_ENST00000371145.3_Missense_Mutation_p.Q211E|STAG2_ENST00000354548.5_Missense_Mutation_p.Q142E	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	211					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GTCTGACTCACAAGTCAGAGC	0.353																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(631-633)Caa>Gaa		stromal antigen 2							151.0	144.0	146.0					X																	123179182		2203	4300	6503	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123179182C>G	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.631C>G	X.37:g.123179182C>G	ENSP00000360202:p.Gln211Glu					STAG2_ENST00000218089.9_Missense_Mutation_p.Q211E|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Missense_Mutation_p.Q211E|STAG2_ENST00000371157.3_Missense_Mutation_p.Q211E|STAG2_ENST00000354548.5_Missense_Mutation_p.Q142E|STAG2_ENST00000371144.3_Missense_Mutation_p.Q211E	p.Q211E			Q8N3U4	STAG2_HUMAN			8	921	+			211					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.631C>G	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609429	0.87258	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.44482	0.92;1.59;1.59;1.59;1.59;0.92;1.59	4.74	4.74	0.60224	STAG (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	M	0.87758	2.905	0.80722	D	1	B;B	0.32324	0.364;0.339	B;B	0.39617	0.209;0.305	T	0.62416	-0.6859	10	0.44086	T	0.13	-7.5923	17.2015	0.86907	0.0:1.0:0.0:0.0	.	211;211	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	E	211;211;142;211;211;211;211	ENSP00000218089:Q211E;ENSP00000397265:Q211E;ENSP00000346555:Q142E;ENSP00000360202:Q211E;ENSP00000360199:Q211E;ENSP00000360187:Q211E;ENSP00000360186:Q211E	ENSP00000218089:Q211E	Q	+	1	0	STAG2	123006863	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.028000	0.70889	2.071000	0.62044	0.422000	0.28245	CAA		0.353	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		3	142	0	0	0	0.150653	0	3	142				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	37	0	0	0	0.248553	0	6	37				
TTLL6	284076	broad.mit.edu	37	17	46863542	46863542	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr17:46863542G>A	ENST00000393382.3	-	12	1886	c.1745C>T	c.(1744-1746)aCc>aTc	p.T582I	TTLL6_ENST00000433608.2_Missense_Mutation_p.T275I	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGAGGCTTGGGTGGCGGCCTT	0.577																																						ENST00000393382.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(1744-1746)aCc>aTc		tubulin tyrosine ligase-like family, member 6							382.0	353.0	363.0					17																	46863542		2203	4300	6503	SO:0001583	missense	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46863542G>A	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1745C>T	17.37:g.46863542G>A	ENSP00000377043:p.Thr582Ile					TTLL6_ENST00000433608.2_Missense_Mutation_p.T275I	p.T582I	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN			12	1886	-			534						Missense_Mutation	SNP	ENST00000393382.3	37	c.1745C>T	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805772	0.31961	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.63	-3.36	0.04913	.	4.913040	0.00589	N	0.000348	T	0.33556	0.0867	L	0.53249	1.67	0.09310	N	1	B;B;B	0.28713	0.112;0.22;0.131	B;B;B	0.27608	0.024;0.08;0.081	T	0.12811	-1.0533	9	0.33940	T	0.23	.	2.0048	0.03475	0.1541:0.3723:0.219:0.2546	.	534;335;275	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	I	582;275;260;534	.	ENSP00000302547:T275I	T	-	2	0	TTLL6	44218541	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.072000	0.11486	-0.132000	0.11557	-0.264000	0.10439	ACC		0.577	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		13	530	0	0	0	0.457914	0	13	530				
OR5F1	338674	broad.mit.edu	37	11	55761664	55761664	+	Silent	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr11:55761664G>A	ENST00000278409.1	-	1	437	c.438C>T	c.(436-438)gcC>gcT	p.A146A		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	146					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(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAAAAGCCCCGGCTGCCATTT	0.502																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(436-438)gcC>gcT		olfactory receptor, family 5, subfamily F, member 1							41.0	43.0	43.0					11																	55761664		2201	4296	6497	SO:0001819	synonymous_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761664G>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.438C>T	11.37:g.55761664G>A							p.A146A	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	437	-	Esophageal squamous(21;0.00448)		146					Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	c.438C>T	CCDS31515.1																																																																																				0.502	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		12	27	0	0	0	0.479597	0	12	27				
F8	2157	broad.mit.edu	37	X	154182174	154182174	+	Silent	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chrX:154182174G>A	ENST00000360256.4	-	12	2096	c.1896C>T	c.(1894-1896)atC>atT	p.I632I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	632	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CACTGTGCATGATGTTGGAGG	0.433																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(1894-1896)atC>atT		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						219.0	205.0	210.0					X																	154182174		2203	4300	6503	SO:0001819	synonymous_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154182174G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1896C>T	X.37:g.154182174G>A							p.I632I	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			12	2096	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		632			F5/8 type A 2.|Plastocyanin-like 4.		Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	c.1896C>T	CCDS35457.1																																																																																				0.433	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			8	142	0	0	0	0.387290	0	8	142				
PTPRK	5796	broad.mit.edu	37	6	128294293	128294293	+	Silent	SNP	G	G	A	rs375248533		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr6:128294293G>A	ENST00000368215.3	-	29	4139	c.4140C>T	c.(4138-4140)ggC>ggT	p.G1380G	PTPRK_ENST00000368210.3_Silent_p.G1399G|PTPRK_ENST00000368207.3_Silent_p.G1413G|PTPRK_ENST00000368213.5_Silent_p.G1387G|PTPRK_ENST00000368227.3_Silent_p.G1398G|PTPRK_ENST00000532331.1_Silent_p.G1403G|PTPRK_ENST00000368226.4_Silent_p.G1381G			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1380	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CACTTCGCCCGCCACCATTTC	0.428																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(4192-4194)ggC>ggT		protein tyrosine phosphatase, receptor type, K		G	,	0,4406		0,0,2203	90.0	90.0	90.0		4161,4143	-11.0	0.2	6		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PTPRK	NM_001135648.1,NM_002844.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1387/1447,1381/1441	128294293	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128294293G>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.4140C>T	6.37:g.128294293G>A						PTPRK_ENST00000368215.3_Silent_p.G1380G|PTPRK_ENST00000368207.3_Silent_p.G1413G|PTPRK_ENST00000368210.3_Silent_p.G1399G|PTPRK_ENST00000368213.5_Silent_p.G1387G|PTPRK_ENST00000368226.4_Silent_p.G1381G|PTPRK_ENST00000532331.1_Silent_p.G1403G	p.G1398G			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	30	4560	-			1380			Tyrosine-protein phosphatase 2.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Silent	SNP	ENST00000368215.3	37	c.4194C>T																																																																																					0.428	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			24	56	0	0	0	0.740014	0	24	56				
SIGLEC11	114132	broad.mit.edu	37	19	50462138	50462138	+	Silent	SNP	G	G	A	rs374104181|rs545385303	byFrequency	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:50462138G>A	ENST00000447370.2	-	7	1215	c.1125C>T	c.(1123-1125)aaC>aaT	p.N375N	SIGLEC11_ENST00000426971.2_Silent_p.N375N|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	375	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGGATGTGCCGTTCCCGAGGT	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16669	0.0		0.0	False		,,,				2504	0.0					ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1123-1125)aaC>aaT		sialic acid binding Ig-like lectin 11		G	,	0,4406		0,0,2203	36.0	40.0	39.0		1125,1125	-4.3	0.0	19		39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SIGLEC11	NM_001135163.1,NM_052884.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	375/603,375/699	50462138	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462138G>A	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1125C>T	19.37:g.50462138G>A						SIGLEC11_ENST00000426971.2_Silent_p.N375N	p.N375N	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1215	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	375			Ig-like C2-type 3.			Silent	SNP	ENST00000447370.2	37	c.1125C>T	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	G	2.267	-0.367882	0.05069	0.0	1.16E-4	ENSG00000161640	ENST00000426971	.	.	.	3.14	-4.34	0.03666	.	.	.	.	.	T	0.31040	0.0784	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.34229	-0.9837	4	.	.	.	.	9.7156	0.40272	0.3795:0.0:0.6205:0.0	.	.	.	.	M	365	.	.	T	-	2	0	SIGLEC11	55153950	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.546000	0.02188	-1.227000	0.02571	-0.378000	0.06908	ACG		0.662	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		3	45	0	0	0	0.150653	0	3	45				
ZNF416	55659	broad.mit.edu	37	19	58084554	58084554	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:58084554T>C	ENST00000196489.3	-	4	940	c.718A>G	c.(718-720)Agg>Ggg	p.R240G		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TCATAAAGCCTTTTTCCAGTG	0.473																																						ENST00000196489.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(718-720)Agg>Ggg		zinc finger protein 416							161.0	158.0	159.0					19																	58084554		2203	4300	6503	SO:0001583	missense	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084554T>C	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.718A>G	19.37:g.58084554T>C	ENSP00000196489:p.Arg240Gly						p.R240G	NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	940	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	240					Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	c.718A>G	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	T	5.867	0.344185	0.11126	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.33654	1.4	3.7	0.743	0.18347	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29223	0.0727	L	0.48218	1.51	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27262	-1.0079	9	0.59425	D	0.04	.	7.2143	0.25951	0.0:0.2593:0.0:0.7407	.	240	Q9BWM5	ZN416_HUMAN	G	240;226;220	ENSP00000196489:R240G	ENSP00000196489:R240G	R	-	1	2	ZNF416	62776366	0.000000	0.05858	0.009000	0.14445	0.020000	0.10135	-0.055000	0.11807	0.118000	0.18165	0.533000	0.62120	AGG		0.473	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		4	196	0	0	0	0.150653	0	4	196				
BUB1	699	broad.mit.edu	37	2	111416223	111416223	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr2:111416223G>T	ENST00000302759.6	-	12	1491	c.1373C>A	c.(1372-1374)cCa>cAa	p.P458Q	BUB1_ENST00000409311.1_Missense_Mutation_p.P458Q|BUB1_ENST00000535254.1_Missense_Mutation_p.P438Q	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	458	Essential for loading of BUBR1, MAD1L1 and MAD2L1 to kinetochores.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GGTGGGTGATGGCTGCACTTT	0.433																																						ENST00000535254.1																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(1312-1314)cCa>cAa		BUB1 mitotic checkpoint serine/threonine kinase							227.0	193.0	205.0					2																	111416223		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111416223G>T	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1373C>A	2.37:g.111416223G>T	ENSP00000302530:p.Pro458Gln					BUB1_ENST00000302759.6_Missense_Mutation_p.P458Q|BUB1_ENST00000409311.1_Missense_Mutation_p.P458Q	p.P438Q	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	11	1380	-		Ovarian(717;0.0822)	458					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.1313C>A	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204300	0.79127	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.76578	-0.08;-1.03;0.2	5.86	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.86125	0.5858	M	0.65498	2.005	0.49389	D	0.99978	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87298	0.2303	10	0.66056	D	0.02	-15.8207	13.3032	0.60336	0.0768:0.0:0.9232:0.0	.	438;458;458	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	Q	438;458;458;458	ENSP00000441013:P438Q;ENSP00000386701:P458Q;ENSP00000302530:P458Q	ENSP00000302530:P458Q	P	-	2	0	BUB1	111132696	1.000000	0.71417	0.920000	0.36463	0.979000	0.70002	7.540000	0.82074	1.623000	0.50342	0.650000	0.86243	CCA		0.433	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		4	81	1	0	0.00909568	0.150653	0.00980628	4	81				
N4BP3	23138	broad.mit.edu	37	5	177546687	177546687	+	Missense_Mutation	SNP	G	G	A	rs530201685		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr5:177546687G>A	ENST00000274605.5	+	2	462	c.103G>A	c.(103-105)Ggg>Agg	p.G35R		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	35						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCACTTGCCGGGTCTCGGGG	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		12281	0.0		0.001	False		,,,				2504	0.0					ENST00000274605.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(103-105)Ggg>Agg		NEDD4 binding protein 3							35.0	42.0	40.0					5																	177546687		2203	4300	6503	SO:0001583	missense	23138					cytoplasmic vesicle membrane		g.chr5:177546687G>A	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.103G>A	5.37:g.177546687G>A	ENSP00000274605:p.Gly35Arg						p.G35R	NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	462	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	35					B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Missense_Mutation	SNP	ENST00000274605.5	37	c.103G>A	CCDS34307.1	.	.	.	.	.	.	.	.	.	.	G	9.210	1.030685	0.19512	.	.	ENSG00000145911	ENST00000274605	T	0.00540	6.7	5.48	4.42	0.53409	.	0.328337	0.30695	N	0.009063	T	0.00496	0.0016	L	0.38175	1.15	0.09310	N	0.999995	B	0.17465	0.022	B	0.10450	0.005	T	0.49031	-0.8981	10	0.66056	D	0.02	-55.7299	7.7937	0.29135	0.0984:0.1693:0.7324:0.0	.	35	O15049	N4BP3_HUMAN	R	35	ENSP00000274605:G35R	ENSP00000274605:G35R	G	+	1	0	N4BP3	177479293	0.993000	0.37304	0.905000	0.35620	0.088000	0.18126	2.186000	0.42593	2.578000	0.87016	0.491000	0.48974	GGG		0.677	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		4	68	0	0	0	0.217242	0	4	68				
FPR2	2358	broad.mit.edu	37	19	52272405	52272405	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:52272405C>A	ENST00000598776.1	+	2	1266	c.494C>A	c.(493-495)aCt>aAt	p.T165N	FPR2_ENST00000340023.6_Missense_Mutation_p.T165N|FPR2_ENST00000598953.1_Missense_Mutation_p.T165N	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	165					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTCTTTTTGACTACAGTAACT	0.512																																						ENST00000598776.1																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(493-495)aCt>aAt		formyl peptide receptor 2							123.0	117.0	119.0					19																	52272405		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272405C>A	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.494C>A	19.37:g.52272405C>A	ENSP00000468897:p.Thr165Asn					FPR2_ENST00000340023.6_Missense_Mutation_p.T165N|FPR2_ENST00000598953.1_Missense_Mutation_p.T165N	p.T165N	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN			2	1266	+			165					A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.494C>A	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	9.770	1.172560	0.21704	.	.	ENSG00000171049	ENST00000340023	T	0.71934	-0.61	3.62	1.32	0.21799	GPCR, rhodopsin-like superfamily (1);	0.396359	0.23832	U	0.044128	T	0.63200	0.2491	M	0.65498	2.005	0.25522	N	0.987359	B	0.17852	0.024	B	0.29598	0.104	T	0.49447	-0.8939	10	0.18276	T	0.48	.	6.1861	0.20498	0.3792:0.4358:0.185:0.0	.	165	P25090	FPR2_HUMAN	N	165	ENSP00000340191:T165N	ENSP00000340191:T165N	T	+	2	0	FPR2	56964217	0.809000	0.29036	0.000000	0.03702	0.002000	0.02628	1.459000	0.35234	0.290000	0.22444	-0.479000	0.04858	ACT		0.512	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		3	108	1	0	0.115264	0.115264	0.122357	3	108				
TOX2	84969	broad.mit.edu	37	20	42635234	42635234	+	Silent	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr20:42635234G>A	ENST00000358131.5	+	3	448	c.240G>A	c.(238-240)ccG>ccA	p.P80P	RN7SL443P_ENST00000464331.2_RNA|TOX2_ENST00000341197.4_Silent_p.P71P|TOX2_ENST00000372999.1_Silent_p.P29P|TOX2_ENST00000423191.2_Silent_p.P29P	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	80	Required for transcriptional activation. {ECO:0000250}.				female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGATCCCCCCGATAACACCTC	0.587																																						ENST00000358131.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(238-240)ccG>ccA		TOX high mobility group box family member 2							179.0	144.0	156.0					20																	42635234		2203	4300	6503	SO:0001819	synonymous_variant	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42635234G>A	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.240G>A	20.37:g.42635234G>A						TOX2_ENST00000423191.1_Silent_p.P29P|TOX2_ENST00000341197.3_Silent_p.P71P|TOX2_ENST00000372999.1_Silent_p.P29P	p.P80P	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	448	+		Myeloproliferative disorder(115;0.00452)	80			Required for transcriptional activation (By similarity).		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	37	c.240G>A	CCDS42875.1																																																																																				0.587	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			30	72	0	0	0	0.796494	0	30	72				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	38	0	0	0	0.150653	0	3	38				
PCNT	5116	broad.mit.edu	37	21	47754527	47754527	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr21:47754527A>G	ENST00000359568.5	+	3	591	c.484A>G	c.(484-486)Agt>Ggt	p.S162G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	162					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTTCACAGTCAGTGACCACCC	0.552																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(484-486)Agt>Ggt		pericentrin							206.0	129.0	155.0					21																	47754527		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47754527A>G	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.484A>G	21.37:g.47754527A>G	ENSP00000352572:p.Ser162Gly					PCNT_ENST00000480896.1_3'UTR	p.S162G	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			3	591	+	Breast(49;0.112)		162					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.484A>G	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	a	0.030	-1.341863	0.01277	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01705	4.68	0.235	0.235	0.15431	.	.	.	.	.	T	0.02767	0.0083	L	0.36672	1.1	0.09310	N	1	P;P	0.46395	0.877;0.805	P;P	0.51866	0.682;0.483	T	0.50215	-0.8854	8	0.25751	T	0.34	.	.	.	.	.	44;162	O95613-2;O95613	.;PCNT_HUMAN	G	162;149	ENSP00000352572:S162G	ENSP00000338675:S149G	S	+	1	0	PCNT	46578955	0.036000	0.19791	0.005000	0.12908	0.005000	0.04900	1.077000	0.30741	0.263000	0.21812	0.260000	0.18958	AGT		0.552	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		4	79	0	0	0	0.184627	0	4	79				
PLAT	5327	broad.mit.edu	37	8	42045029	42045029	+	Silent	SNP	C	C	A	rs146968391		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr8:42045029C>A	ENST00000220809.4	-	6	682	c.426G>T	c.(424-426)gcG>gcT	p.A142A	PLAT_ENST00000429089.2_Silent_p.A142A|PLAT_ENST00000352041.3_Silent_p.A96A|PLAT_ENST00000270189.6_Silent_p.A142A|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000519510.1_Intron|PLAT_ENST00000429710.2_Intron	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	142	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	CGCCACTCTCCGCTGTGCTCC	0.657																																						ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(424-426)gcG>gcT		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						51.0	44.0	46.0					8																	42045029		2203	4300	6503	SO:0001819	synonymous_variant	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42045029C>A		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.426G>T	8.37:g.42045029C>A						PLAT_ENST00000429710.2_Intron|PLAT_ENST00000429089.2_Silent_p.A142A|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000352041.3_Silent_p.A96A|PLAT_ENST00000519510.1_Intron|PLAT_ENST00000270189.6_Silent_p.A142A	p.A142A	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		6	682	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	142			Kringle 1.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Silent	SNP	ENST00000220809.4	37	c.426G>T	CCDS6126.1																																																																																				0.657	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		15	31	1	0	6.49762e-13	0.539581	7.11644e-13	15	31				
TCHH	7062	broad.mit.edu	37	1	152082220	152082220	+	Missense_Mutation	SNP	G	G	C	rs113946258	byFrequency	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr1:152082220G>C	ENST00000368804.1	-	2	3472	c.3473C>G	c.(3472-3474)cCg>cGg	p.P1158R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1158	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCTCCGGTTCCTCTCT	0.592																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3472-3474)cCg>cGg		trichohyalin							71.0	70.0	70.0					1																	152082220		1986	4171	6157	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082220G>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3473C>G	1.37:g.152082220G>C	ENSP00000357794:p.Pro1158Arg						p.P1158R	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3472	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1158			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3473C>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	1.340	-0.594289	0.03771	.	.	ENSG00000159450	ENST00000368804	T	0.04603	3.59	1.86	-3.72	0.04411	.	.	.	.	.	T	0.00412	0.0013	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45716	-0.9242	9	0.16420	T	0.52	.	1.558	0.02589	0.2814:0.2588:0.3346:0.1252	.	1158	Q07283	TRHY_HUMAN	R	1158	ENSP00000357794:P1158R	ENSP00000357794:P1158R	P	-	2	0	TCHH	150348844	0.000000	0.05858	0.024000	0.17045	0.006000	0.05464	-6.257000	0.00073	-1.230000	0.02561	-1.439000	0.01073	CCG		0.592	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		3	68	0	0	0	0.248553	0	3	68				
VPS16	64601	broad.mit.edu	37	20	2846119	2846119	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr20:2846119A>G	ENST00000380445.3	+	22	2321	c.2249A>G	c.(2248-2250)aAg>aGg	p.K750R	VPS16_ENST00000380469.3_Missense_Mutation_p.K606R|PTPRA_ENST00000380393.3_Intron|VPS16_ENST00000380443.3_Missense_Mutation_p.K436R	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	750					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TCCAAGAGCAAGAAATCACCC	0.562																																						ENST00000380445.3																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						c.(2248-2250)aAg>aGg		vacuolar protein sorting 16 homolog (S. cerevisiae)							52.0	48.0	49.0					20																	2846119		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2846119A>G	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.2249A>G	20.37:g.2846119A>G	ENSP00000369810:p.Lys750Arg					VPS16_ENST00000380469.3_Missense_Mutation_p.K606R|PTPRA_ENST00000380393.3_Intron|VPS16_ENST00000380443.3_Missense_Mutation_p.K436R	p.K750R	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN			22	2321	+			750					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.2249A>G	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.078807	0.76528	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000380443	T;T;T	0.48201	0.82;0.82;0.82	5.5	4.41	0.53225	Vps16, C-terminal (1);	0.044335	0.85682	N	0.000000	T	0.54143	0.1840	L	0.39898	1.24	0.80722	D	1	P;D;D;D	0.61080	0.952;0.989;0.976;0.989	P;P;D;P	0.62955	0.823;0.873;0.909;0.873	T	0.53954	-0.8365	10	0.59425	D	0.04	-23.7104	9.4748	0.38864	0.9159:0.0:0.0841:0.0	.	226;436;606;750	A1A4H0;Q5JUA8;Q9H269-2;Q9H269	.;.;.;VPS16_HUMAN	R	750;606;436	ENSP00000369810:K750R;ENSP00000369836:K606R;ENSP00000369808:K436R	ENSP00000369808:K436R	K	+	2	0	VPS16	2794119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.946000	0.75953	0.919000	0.36945	0.533000	0.62120	AAG		0.562	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		14	34	0	0	0	0.500413	0	14	34				
ENOX1	55068	broad.mit.edu	37	13	43934080	43934080	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr13:43934080C>T	ENST00000261488.6	-	7	1073	c.496G>A	c.(496-498)Ggt>Agt	p.G166S	ENOX1_ENST00000540032.1_5'UTR|ENOX1_ENST00000412891.1_Missense_Mutation_p.G166S|ENOX1_ENST00000482207.1_5'UTR	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	166	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GTAATATCACCGCACTGTTCA	0.403																																						ENST00000261488.6																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(496-498)Ggt>Agt		ecto-NOX disulfide-thiol exchanger 1							113.0	105.0	108.0					13																	43934080		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43934080C>T	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.496G>A	13.37:g.43934080C>T	ENSP00000261488:p.Gly166Ser					ENOX1_ENST00000482207.1_5'UTR|ENOX1_ENST00000412891.1_Missense_Mutation_p.G166S|ENOX1_ENST00000540032.1_5'UTR	p.G166S	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	7	1073	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	166			RRM.		A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.496G>A	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121383	0.94385	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.45668	0.89;0.89	5.89	5.89	0.94794	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.75664	0.3880	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81269	-0.1009	10	0.87932	D	0	1.3973	20.248	0.98401	0.0:1.0:0.0:0.0	.	166	Q8TC92	ENOX1_HUMAN	S	166	ENSP00000261488:G166S;ENSP00000415054:G166S	ENSP00000261488:G166S	G	-	1	0	ENOX1	42832080	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.440000	0.80464	2.790000	0.95986	0.655000	0.94253	GGT		0.403	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		20	26	0	0	0	0.592651	0	20	26				
TRIM10	10107	broad.mit.edu	37	6	30121516	30121516	+	3'UTR	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr6:30121516G>A	ENST00000449742.2	-	0	1751				TRIM10_ENST00000376704.3_Silent_p.C379C	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10						erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						AGAACTGGCAGCAGCCTGAGT	0.547																																						ENST00000376704.3																			0				ovary(1)	1						c.(1135-1137)tgC>tgT		tripartite motif containing 10							70.0	58.0	62.0					6																	30121516		1511	2709	4220	SO:0001624	3_prime_UTR_variant	10107					cytoplasm	zinc ion binding	g.chr6:30121516G>A	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.*230C>T	6.37:g.30121516G>A						TRIM10_ENST00000449742.2_3'UTR	p.C379C	NM_052828.2	NP_439893.2	Q9UDY6	TRI10_HUMAN			8	1212	-			0			B30.2/SPRY.		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Silent	SNP	ENST00000449742.2	37	c.1137C>T	CCDS34375.1																																																																																				0.547	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			3	44	0	0	0	0.150653	0	3	44				
ZCWPW1	55063	broad.mit.edu	37	7	100014780	100014780	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr7:100014780C>G	ENST00000398027.2	-	6	635	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E130Q|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.E9Q|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.E9Q	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	130							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAAGAAGTCTCTGCAAAATCA	0.413																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(388-390)Gag>Cag		zinc finger, CW type with PWWP domain 1							115.0	105.0	108.0					7																	100014780		1872	4100	5972	SO:0001583	missense	55063						zinc ion binding	g.chr7:100014780C>G	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.388G>C	7.37:g.100014780C>G	ENSP00000381109:p.Glu130Gln					ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E130Q|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.E9Q|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.E9Q	p.E130Q	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN			6	635	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		130					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.388G>C	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016793	0.75161	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000379559	T;T;T;T	0.60672	0.42;0.17;0.41;0.17	4.48	4.48	0.54585	.	0.214568	0.23474	N	0.047789	T	0.69602	0.3129	L	0.54323	1.7	0.26936	N	0.966357	D;D;D;D;D	0.89917	0.999;1.0;0.998;1.0;0.971	D;D;P;D;P	0.83275	0.994;0.996;0.796;0.996;0.725	T	0.61068	-0.7137	9	.	.	.	-12.9088	12.8291	0.57736	0.0:1.0:0.0:0.0	.	130;90;131;130;9	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	Q	130;9;130;9;131	ENSP00000381109:E130Q;ENSP00000419187:E9Q;ENSP00000354210:E130Q;ENSP00000314880:E9Q	.	E	-	1	0	ZCWPW1	99852716	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	3.295000	0.51794	2.476000	0.83614	0.643000	0.83706	GAG		0.413	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		20	57	0	0	0	0.624587	0	20	57				
ZFP36L1	677	broad.mit.edu	37	14	69256863	69256863	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr14:69256863C>A	ENST00000439696.2	-	2	705	c.404G>T	c.(403-405)tGc>tTc	p.C135F	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.C135F	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	135					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGCGAACTGGCACTTGTCCCC	0.642											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000439696.2																			0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(403-405)tGc>tTc		ZFP36 ring finger protein-like 1							109.0	103.0	105.0					14																	69256863		2203	4300	6503	SO:0001583	missense	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256863C>A	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.404G>T	14.37:g.69256863C>A	ENSP00000388402:p.Cys135Phe		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.C135F|ZFP36L1_ENST00000555997.1_3'UTR	p.C135F	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	705	-			135					Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.404G>T	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828820	0.71258	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246;ENST00000557086;ENST00000557022	D;D;D;D	0.99951	-8.74;-8.74;-8.74;-8.74	4.69	4.69	0.59074	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	D	0.99959	0.9983	H	0.96662	3.86	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96012	0.9002	10	0.87932	D	0	-0.0896	17.8126	0.88620	0.0:1.0:0.0:0.0	.	135	Q07352	TISB_HUMAN	F	135;135;118;141;113	ENSP00000388402:C135F;ENSP00000337386:C135F;ENSP00000450784:C141F;ENSP00000450600:C113F	ENSP00000337386:C135F	C	-	2	0	ZFP36L1	68326616	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.563000	0.82314	2.423000	0.82170	0.585000	0.79938	TGC		0.642	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			36	159	1	0	1.03325e-14	0.859065	1.1499e-14	36	159				
SUSD2	56241	broad.mit.edu	37	22	24581635	24581635	+	Silent	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr22:24581635G>A	ENST00000358321.3	+	8	1338	c.1077G>A	c.(1075-1077)cgG>cgA	p.R359R		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	359	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCAGCCTCCGGTACGGCTCAG	0.697																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1075-1077)cgG>cgA		sushi domain containing 2							15.0	17.0	16.0					22																	24581635		2190	4283	6473	SO:0001819	synonymous_variant	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24581635G>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1077G>A	22.37:g.24581635G>A							p.R359R	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			8	1338	+			359			AMOP.		Q9H5Y6	Silent	SNP	ENST00000358321.3	37	c.1077G>A	CCDS13824.1																																																																																				0.697	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		10	24	0	0	0	0.335167	0	10	24				
ZNF780B	163131	broad.mit.edu	37	19	40541898	40541898	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:40541898A>C	ENST00000434248.1	-	5	933	c.868T>G	c.(868-870)Tca>Gca	p.S290A	ZNF780B_ENST00000221355.6_Missense_Mutation_p.S142A	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	290					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)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATAAGATTTGAACCACGATTA	0.368																																						ENST00000434248.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(868-870)Tca>Gca		zinc finger protein 780B							110.0	115.0	114.0					19																	40541898		2203	4300	6503	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40541898A>C	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.868T>G	19.37:g.40541898A>C	ENSP00000391641:p.Ser290Ala					ZNF780B_ENST00000221355.6_Missense_Mutation_p.S142A	p.S290A	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN			5	933	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		290					B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	c.868T>G	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.204851	0.38905	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.57752	0.38;0.38	2.21	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43211	0.1237	L	0.48986	1.54	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.36089	-0.9762	9	0.48119	T	0.1	.	6.154	0.20328	0.7391:0.2609:0.0:0.0	.	290	Q9Y6R6	Z780B_HUMAN	A	290;142	ENSP00000391641:S290A;ENSP00000221355:S142A	ENSP00000221355:S142A	S	-	1	0	ZNF780B	45233738	0.000000	0.05858	0.000000	0.03702	0.915000	0.54546	-0.428000	0.06991	-0.000000	0.14550	0.260000	0.18958	TCA		0.368	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		3	95	0	0	0	0.278610	0	3	95				
TRPC7	57113	broad.mit.edu	37	5	135692511	135692511	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr5:135692511G>A	ENST00000513104.1	-	2	847	c.565C>T	c.(565-567)Cgc>Tgc	p.R189C	TRPC7_ENST00000426057.2_Missense_Mutation_p.R189C|TRPC7_ENST00000355180.3_Missense_Mutation_p.R189C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	189					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGCTCGATGCGGGCGCCCTTG	0.622																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(565-567)Cgc>Tgc		transient receptor potential cation channel, subfamily C, member 7							90.0	98.0	95.0					5																	135692511		2198	4293	6491	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692511G>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.565C>T	5.37:g.135692511G>A	ENSP00000426070:p.Arg189Cys					TRPC7_ENST00000426057.2_Missense_Mutation_p.R189C|TRPC7_ENST00000355180.3_Missense_Mutation_p.R189C	p.R189C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	847	-			189					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.565C>T	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.41|15.41	2.826527|2.826527	0.50739|0.50739	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753|ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	.|T;T;T	.|0.71103	.|-0.54;-0.54;-0.54	5.26|5.26	5.26|5.26	0.73747|0.73747	.|Ankyrin repeat-containing domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80166|0.80166	0.4573|0.4573	L|L	0.43554|0.43554	1.36|1.36	0.58432|0.58432	D|D	0.999999|0.999999	.|D;P;B;B	.|0.89917	.|1.0;0.586;0.126;0.126	.|D;B;B;B	.|0.75020	.|0.985;0.072;0.032;0.049	T|T	0.80652|0.80652	-0.1287|-0.1287	5|10	.|0.59425	.|D	.|0.04	-15.1349|-15.1349	19.0783|19.0783	0.93171|0.93171	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|189;189;189;189	.|Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.|.;.;.;TRPC7_HUMAN	L|C	188|189	.|ENSP00000347312:R189C;ENSP00000441628:R189C;ENSP00000426070:R189C	.|ENSP00000265193:R189C	P|R	-|-	2|1	0|0	TRPC7|TRPC7	135720410|135720410	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.479000|0.479000	0.33129|0.33129	6.471000|6.471000	0.73562|0.73562	2.731000|2.731000	0.93534|0.93534	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.622	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		24	94	0	0	0	0.681144	0	24	94				
NACA	4666	broad.mit.edu	37	12	57111912	57111912	+	Silent	SNP	G	G	A	rs2926744		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr12:57111912G>A	ENST00000454682.1	-	3	3683	c.3402C>T	c.(3400-3402)ccC>ccT	p.P1134P	NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1134	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3400-3402)ccC>ccT		nascent polypeptide-associated complex alpha subunit							61.0	59.0	60.0					12																	57111912		1261	2772	4033	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111912G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3402C>T	12.37:g.57111912G>A						NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron	p.P1134P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3683	-			0						Silent	SNP	ENST00000454682.1	37	c.3402C>T																																																																																					0.642	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		4	132	0	0	0	0.184627	0	4	132				
UHRF1	29128	broad.mit.edu	37	19	4930834	4930834	+	RNA	SNP	C	C	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:4930834C>G	ENST00000592666.1	+	0	1091				MIR4747_ENST00000584057.1_RNA			Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CCCTGCAGCTCCACGTCCAGG	0.647																																						ENST00000592666.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1							58.0	66.0	63.0					19																	4930834		2128	4212	6340			29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4930834C>G	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4930834C>G										Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	1091	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	ENST00000592666.1	37			.	.	.	.	.	.	.	.	.	.	C	12.94	2.088276	0.36855	.	.	ENSG00000034063	ENST00000262952;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.15	4.15	0.48705	Domain of unknown function DUF3590 (1);	0.441622	0.24193	N	0.040694	T	0.61375	0.2342	L	0.54323	1.7	0.30103	N	0.8072429999999999	D;P	0.63880	0.993;0.951	P;P	0.58520	0.815;0.84	T	0.73154	-0.4072	8	0.72032	D	0.01	-11.3305	11.4799	0.50320	0.0:0.8182:0.1818:0.0	.	185;172	Q2HIX7;Q96T88	.;UHRF1_HUMAN	C	172;172;172;185	.	ENSP00000262952:S172C	S	+	2	0	UHRF1	4881834	0.927000	0.31430	0.919000	0.36401	0.052000	0.14988	1.737000	0.38197	2.153000	0.67306	0.561000	0.74099	TCC		0.647	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		29	82	0	0	0	0.796494	0	29	82				
CCNG2	901	broad.mit.edu	37	4	78082099	78082099	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr4:78082099A>G	ENST00000316355.5	+	4	858	c.502A>G	c.(502-504)Att>Gtt	p.I168V	CCNG2_ENST00000354403.5_Missense_Mutation_p.I168V|CCNG2_ENST00000395640.1_Missense_Mutation_p.I168V|CCNG2_ENST00000502280.1_Missense_Mutation_p.I168V|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000509972.1_Missense_Mutation_p.I168V	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	168					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						ATACCATACTATTATACTTTG	0.313																																						ENST00000316355.5																			0				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(502-504)Att>Gtt		cyclin G2							78.0	79.0	79.0					4																	78082099		2202	4298	6500	SO:0001583	missense	901				cell cycle checkpoint|cell division|mitosis	cytoplasm		g.chr4:78082099A>G	BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.502A>G	4.37:g.78082099A>G	ENSP00000315743:p.Ile168Val					CCNG2_ENST00000395640.1_Missense_Mutation_p.I168V|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000509972.1_Missense_Mutation_p.I168V|CCNG2_ENST00000502280.1_Missense_Mutation_p.I168V|CCNG2_ENST00000354403.5_Missense_Mutation_p.I168V	p.I168V	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN			4	858	+			168					B4DF25|Q6FGA7|Q6FGC6	Missense_Mutation	SNP	ENST00000316355.5	37	c.502A>G	CCDS3581.1	.	.	.	.	.	.	.	.	.	.	A	12.26	1.885015	0.33255	.	.	ENSG00000138764	ENST00000316355;ENST00000354403;ENST00000502280;ENST00000395640;ENST00000509972	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.82	5.82	0.92795	.	0.181068	0.64402	D	0.000016	T	0.21841	0.0526	L	0.27053	0.805	0.43476	D	0.995694	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.04855	-1.0922	10	0.37606	T	0.19	-11.084	10.5119	0.44866	0.9282:0.0:0.0718:0.0	.	168;168	B4DF25;Q16589	.;CCNG2_HUMAN	V	168	ENSP00000315743:I168V;ENSP00000346379:I168V;ENSP00000424665:I168V;ENSP00000379002:I168V;ENSP00000426476:I168V	ENSP00000315743:I168V	I	+	1	0	CCNG2	78301123	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.180000	0.58296	2.225000	0.72522	0.533000	0.62120	ATT		0.313	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	NM_004354		9	48	0	0	0	0.361761	0	9	48				
OGDHL	55753	broad.mit.edu	37	10	50953438	50953438	+	Silent	SNP	G	G	A	rs564954722		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr10:50953438G>A	ENST00000374103.4	-	12	1666	c.1581C>T	c.(1579-1581)taC>taT	p.Y527Y	OGDHL_ENST00000419399.1_Silent_p.Y470Y|OGDHL_ENST00000432695.1_Silent_p.Y318Y	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	527					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCTTGTCTGCGTACTTCTTCA	0.602																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(1579-1581)taC>taT		oxoglutarate dehydrogenase-like							100.0	86.0	91.0					10																	50953438		2203	4300	6503	SO:0001819	synonymous_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50953438G>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1581C>T	10.37:g.50953438G>A						OGDHL_ENST00000432695.1_Silent_p.Y318Y|OGDHL_ENST00000419399.1_Silent_p.Y470Y	p.Y527Y	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			12	1666	-			527					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	c.1581C>T	CCDS7234.1																																																																																				0.602	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		5	53	0	0	0	0.217242	0	5	53				
EXT2	2132	broad.mit.edu	37	11	44151632	44151632	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr11:44151632G>A	ENST00000343631.3	+	7	1246	c.1117G>A	c.(1117-1119)Gtg>Atg	p.V373M	EXT2_ENST00000395673.3_Missense_Mutation_p.V406M|EXT2_ENST00000533608.1_Missense_Mutation_p.V373M|EXT2_ENST00000358681.4_Missense_Mutation_p.V373M			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	373					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GATGTCAGATGTGTACAGTAT	0.453			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"""Mis, N, F, S"""	multiple exostoses type 2 gene			M		"""exostoses, osteosarcoma"""			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(1216-1218)Gtg>Atg		exostosin glycosyltransferase 2							199.0	179.0	185.0					11																	44151632		2203	4299	6502	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44151632G>A		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1117G>A	11.37:g.44151632G>A	ENSP00000342656:p.Val373Met					EXT2_ENST00000533608.1_Missense_Mutation_p.V373M|EXT2_ENST00000358681.4_Missense_Mutation_p.V373M|EXT2_ENST00000343631.3_Missense_Mutation_p.V373M	p.V406M	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN			7	1272	+			373					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.1216G>A	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659745	0.29515	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.98207	-4.79;-4.79;-4.79;-4.79	5.66	1.03	0.20045	.	0.174764	0.64402	N	0.000017	D	0.92756	0.7697	N	0.10945	0.07	0.38387	D	0.9453	B;B;B;B;B	0.10296	0.001;0.002;0.001;0.003;0.003	B;B;B;B;B	0.18263	0.005;0.021;0.012;0.016;0.016	D	0.86147	0.1585	10	0.41790	T	0.15	2.7548	7.5656	0.27876	0.7228:0.0:0.2772:0.0	.	373;373;373;373;386	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	M	373;373;406;373	ENSP00000431173:V373M;ENSP00000351509:V373M;ENSP00000379032:V406M;ENSP00000342656:V373M	ENSP00000342656:V373M	V	+	1	0	EXT2	44108208	0.868000	0.29978	0.630000	0.29268	0.995000	0.86356	1.755000	0.38379	0.277000	0.22141	-0.136000	0.14681	GTG		0.453	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		23	53	0	0	0	0.706142	0	23	53				
GZMB	3002	broad.mit.edu	37	14	25101106	25101106	+	Silent	SNP	C	C	T	rs150419134	byFrequency	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr14:25101106C>T	ENST00000216341.4	-	4	664	c.558G>A	c.(556-558)gaG>gaA	p.E186E	GZMB_ENST00000415355.3_Silent_p.E174E|GZMB_ENST00000382540.1_Silent_p.E141E|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000526004.1_3'UTR|GZMB_ENST00000382542.1_Silent_p.E220E			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	186	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		CCACGCACAACTCAATGGTAC	0.453																																						ENST00000216341.4																			0				endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13						c.(556-558)gaG>gaA		granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)		C		1,4405	2.1+/-5.4	0,1,2202	144.0	135.0	138.0		558	2.3	0.0	14	dbSNP_134	138	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GZMB	NM_004131.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		186/248	25101106	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3002				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	g.chr14:25101106C>T	BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"""fragmentin 2"", ""cytotoxic serine protease B"", ""cathepsin G-like 1"", ""T-cell serine protease 1-3E"""	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.558G>A	14.37:g.25101106C>T						GZMB_ENST00000415355.3_Silent_p.E174E|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382542.1_Silent_p.E220E|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382540.1_Silent_p.E141E|GZMB_ENST00000526004.1_3'UTR	p.E186E			P10144	GRAB_HUMAN		GBM - Glioblastoma multiforme(265;0.028)	4	664	-			186			Peptidase S1.		Q8N1D2|Q9UCC1	Silent	SNP	ENST00000216341.4	37	c.558G>A	CCDS9633.1																																																																																				0.453	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276540.3	NM_004131		25	122	0	0	0	0.681144	0	25	122				
HMCN1	83872	broad.mit.edu	37	1	185959468	185959468	+	Silent	SNP	C	C	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr1:185959468C>T	ENST00000271588.4	+	22	3499	c.3270C>T	c.(3268-3270)tcC>tcT	p.S1090S	HMCN1_ENST00000367492.2_Silent_p.S1090S|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1090	Ig-like C2-type 8.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.S1090S(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGAGATCTCCGTCCTTGCAG	0.458																																						ENST00000271588.4																			1	Substitution - coding silent(1)	p.S1090S(1)	lung(1)	NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(3268-3270)tcC>tcT		hemicentin 1							243.0	240.0	241.0					1																	185959468		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185959468C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3270C>T	1.37:g.185959468C>T						HMCN1_ENST00000367492.2_Silent_p.S1090S|HMCN1_ENST00000485744.1_3'UTR	p.S1090S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			22	3499	+			1090			Ig-like C2-type 8.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.3270C>T	CCDS30956.1																																																																																				0.458	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		69	180	0	0	0	0.870114	0	69	180				
ASTL	431705	broad.mit.edu	37	2	96789882	96789882	+	Missense_Mutation	SNP	C	C	T	rs199510888		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr2:96789882C>T	ENST00000342380.2	-	9	1002	c.1003G>A	c.(1003-1005)Gtt>Att	p.V335I		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)									p.V335F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCTGCAGGAACGGGCTGGCCT	0.672																																						ENST00000342380.2																			1	Substitution - Missense(1)	p.V335F(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						c.(1003-1005)Gtt>Att		astacin-like metallo-endopeptidase (M12 family)		C	ILE/VAL	1,4405		0,1,2202	35.0	40.0	38.0		1003	-3.2	0.0	2	dbSNP_134	38	0,8596		0,0,4298	no	missense	ASTL	NM_001002036.3	29	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign	335/432	96789882	1,13001	2203	4298	6501	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96789882C>T	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.1003G>A	2.37:g.96789882C>T	ENSP00000343674:p.Val335Ile						p.V335I	NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN			9	1002	-			335						Missense_Mutation	SNP	ENST00000342380.2	37	c.1003G>A	CCDS33249.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.172	-1.070451	0.01918	2.27E-4	0.0	ENSG00000188886	ENST00000342380	T	0.62639	0.01	4.42	-3.21	0.05140	.	1.101430	0.07191	N	0.855800	T	0.32941	0.0846	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13308	-1.0514	10	0.17369	T	0.5	-0.015	3.7533	0.08575	0.2628:0.3714:0.0:0.3658	.	335	Q6HA08	ASTL_HUMAN	I	335	ENSP00000343674:V335I	ENSP00000343674:V335I	V	-	1	0	ASTL	96153609	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.316000	0.02710	-0.505000	0.06568	-1.053000	0.02334	GTT		0.672	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			17	57	0	0	0	0.557998	0	17	57				
PTPN9	5780	broad.mit.edu	37	15	75798219	75798219	+	Silent	SNP	G	G	A	rs146156674		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr15:75798219G>A	ENST00000306726.2	-	7	1277	c.765C>T	c.(763-765)aaC>aaT	p.N255N	PTPN9_ENST00000564970.1_5'Flank	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	255					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTGGGTGGCCGTTCACCTGGG	0.542																																						ENST00000306726.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(763-765)aaC>aaT		protein tyrosine phosphatase, non-receptor type 9		G		1,4393	2.1+/-5.4	0,1,2196	100.0	94.0	96.0		765	-5.0	0.7	15	dbSNP_134	96	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	PTPN9	NM_002833.2		0,2,6489	AA,AG,GG		0.0116,0.0228,0.0154		255/594	75798219	2,12980	2197	4294	6491	SO:0001819	synonymous_variant	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75798219G>A		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.765C>T	15.37:g.75798219G>A							p.N255N	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN			7	1277	-			255					Q53XR9	Silent	SNP	ENST00000306726.2	37	c.765C>T	CCDS10280.1																																																																																				0.542	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			3	53	0	0	0	0.150653	0	3	53				
DPH7	92715	broad.mit.edu	37	9	140450002	140450002	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr9:140450002G>A	ENST00000277540.2	-	9	1205	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1	Q9BTV6	DPH7_HUMAN	diphthamide biosynthesis 7	350					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)												GAGGGGGCCCGCTGCAGAGAA	0.597																																						ENST00000277540.2																			0											c.(1048-1050)Cgg>Tgg		diphthamide biosynthesis 7							66.0	69.0	68.0					9																	140450002		2203	4300	6503	SO:0001583	missense	92715							g.chr9:140450002G>A	AK075115	CCDS7047.1	9q34.3	2013-06-20	2013-06-20	2013-06-20	ENSG00000148399	ENSG00000148399		"""WD repeat domain containing"""	25199	protein-coding gene	gene with protein product		613210	"""chromosome 9 open reading frame 112"", ""WD repeat domain 85"""	C9orf112, WDR85		23486472	Standard	NM_138778		Approved	FLJ90634, RRT2	uc004cnk.1	Q9BTV6	OTTHUMG00000020991	ENST00000277540.2:c.1048C>T	9.37:g.140450002G>A	ENSP00000277540:p.Arg350Trp					DPH7_ENST00000479650.1_5'UTR	p.R350W	NM_138778.2	NP_620133.1					9	1205	-								Q96AB7	Missense_Mutation	SNP	ENST00000277540.2	37	c.1048C>T	CCDS7047.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262318	0.39995	.	.	ENSG00000148399	ENST00000277540	T	0.67171	-0.25	5.31	2.35	0.29111	.	0.946696	0.08858	N	0.883519	T	0.44519	0.1297	N	0.08118	0	0.09310	N	1	P	0.48694	0.914	B	0.36989	0.238	T	0.23332	-1.0191	10	0.51188	T	0.08	.	11.0634	0.47961	0.0683:0.3568:0.5749:0.0	.	350	Q9BTV6	WDR85_HUMAN	W	350	ENSP00000277540:R350W	ENSP00000277540:R350W	R	-	1	2	WDR85	139569823	0.013000	0.17824	0.000000	0.03702	0.004000	0.04260	0.759000	0.26461	0.275000	0.22094	0.561000	0.74099	CGG		0.597	DPH7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055350.1	NM_138778		3	86	0	0	0	0.150653	0	3	86				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	42	0	0	0	0.150653	0	3	42				
LRRC49	54839	broad.mit.edu	37	15	71185232	71185232	+	De_novo_Start_InFrame	SNP	T	T	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr15:71185232T>G	ENST00000260382.5	+	0	259				LRRC49_ENST00000443425.2_De_novo_Start_OutOfFrame|THAP10_ENST00000249861.4_5'Flank|LRRC49_ENST00000544974.2_Intron|LRRC49_ENST00000560369.1_De_novo_Start_InFrame|LRRC49_ENST00000560691.1_5'Flank	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49							cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CTGTCTCCTATCATGATTCCC	0.512											OREG0023244	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000443425.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34								leucine rich repeat containing 49							164.0	151.0	155.0					15																	71185232		2199	4297	6496			54839					cytoplasm|microtubule		g.chr15:71185232T>G		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0			15.37:g.71185232T>G			OREG0023244	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1128	LRRC49_ENST00000560369.1_De_novo_Start_InFrame|LRRC49_ENST00000544974.2_Intron|LRRC49_ENST00000260382.5_De_novo_Start_InFrame		NM_001199018.1	NP_001185947.1	Q8IUZ0	LRC49_HUMAN			0	62	+								B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Translation_Start_Site	SNP	ENST00000260382.5	37		CCDS32282.1																																																																																				0.512	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		23	101	0	0	0	0.706142	0	23	101				
COL7A1	1294	broad.mit.edu	37	3	48626825	48626825	+	Missense_Mutation	SNP	G	G	A	rs377763372		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:48626825G>A	ENST00000328333.8	-	17	2356	c.2249C>T	c.(2248-2250)aCg>aTg	p.T750M	COL7A1_ENST00000454817.1_Missense_Mutation_p.T750M	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	750	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACATGCACCGTATACTCAGT	0.622																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(2248-2250)aCg>aTg		collagen, type VII, alpha 1		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	76.0	70.0	72.0		2249	-0.6	0.1	3		72	0,8600		0,0,4300	no	missense	COL7A1	NM_000094.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	750/2945	48626825	1,13005	2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48626825G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2249C>T	3.37:g.48626825G>A	ENSP00000332371:p.Thr750Met					COL7A1_ENST00000454817.1_Missense_Mutation_p.T750M	p.T750M	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	17	2356	-			750			Fibronectin type-III 6.|Nonhelical region (NC1).		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.2249C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	1.010	-0.688256	0.03328	2.27E-4	0.0	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.59638	0.25;0.25	5.26	-0.633	0.11519	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.798742	0.10879	N	0.623974	T	0.49012	0.1532	M	0.62723	1.935	0.09310	N	1	B	0.14438	0.01	B	0.12837	0.008	T	0.45026	-0.9289	10	0.49607	T	0.09	.	5.2124	0.15325	0.3962:0.1398:0.464:0.0	.	750	Q02388	CO7A1_HUMAN	M	750	ENSP00000332371:T750M;ENSP00000412569:T750M	ENSP00000332371:T750M	T	-	2	0	COL7A1	48601829	0.000000	0.05858	0.056000	0.19401	0.042000	0.13812	-0.191000	0.09601	-0.109000	0.12044	-0.751000	0.03497	ACG		0.622	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		21	58	0	0	0	0.654019	0	21	58				
UGT1A9	54600	broad.mit.edu	37	2	234581373	234581373	+	Missense_Mutation	SNP	G	G	A	rs142414435	byFrequency	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr2:234581373G>A	ENST00000354728.4	+	1	875	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.V265M			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	265					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TCCCAAACCCGTGATGCCCAA	0.438													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18338	0.0		0.0	False		,,,				2504	0.0					ENST00000354728.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37						c.(793-795)Gtg>Atg				G	,,MET/VAL	6,4400	11.4+/-27.6	0,6,2197	213.0	199.0	204.0		,,793	1.2	1.0	2	dbSNP_134	204	0,8600		0,0,4300	no	intron,intron,missense	UGT1A10,UGT1A8,UGT1A9	NM_019075.2,NM_019076.4,NM_021027.2	,,21	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	,,	,,265/531	234581373	6,13000	2203	4300	6503	SO:0001583	missense	0							g.chr2:234581373G>A	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.793G>A	2.37:g.234581373G>A	ENSP00000346768:p.Val265Met					UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	p.V265M	NM_021027.2	NP_066307.1				Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	1	875	+		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)						B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	c.793G>A	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013250	0.35511	0.001362	0.0	ENSG00000241119	ENST00000354728	T	0.61510	0.1	3.26	1.17	0.20885	.	.	.	.	.	T	0.59715	0.2214	M	0.71206	2.165	0.09310	N	1	D;D	0.54397	0.966;0.966	P;P	0.49953	0.627;0.627	T	0.51419	-0.8708	9	0.62326	D	0.03	.	5.2104	0.15314	0.2632:0.0:0.5806:0.1563	.	265;265	Q5DSZ5;O60656	.;UD19_HUMAN	M	265	ENSP00000346768:V265M	ENSP00000346768:V265M	V	+	1	0	UGT1A9	234246112	0.000000	0.05858	0.980000	0.43619	0.769000	0.43574	-1.094000	0.03359	0.680000	0.31366	0.446000	0.29264	GTG		0.438	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		5	291	0	0	0	0.248553	0	5	291				
ZIC5	85416	broad.mit.edu	37	13	100622586	100622586	+	Silent	SNP	C	C	T			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr13:100622586C>T	ENST00000267294.4	-	1	1577	c.1344G>A	c.(1342-1344)gaG>gaA	p.E448E		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	448					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTCCCACGTGCTCCACCGTGA	0.677																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1342-1344)gaG>gaA		Zic family member 5							72.0	67.0	69.0					13																	100622586		2203	4300	6503	SO:0001819	synonymous_variant	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100622586C>T	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1344G>A	13.37:g.100622586C>T							p.E448E	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			1	1577	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		448					Q5VYB0	Silent	SNP	ENST00000267294.4	37	c.1344G>A	CCDS9494.2																																																																																				0.677	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		16	39	0	0	0	0.557998	0	16	39				
NACA	4666	broad.mit.edu	37	12	57111705	57111705	+	Silent	SNP	G	G	A	rs2926746		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr12:57111705G>A	ENST00000454682.1	-	3	3890	c.3609C>T	c.(3607-3609)ccC>ccT	p.P1203P	NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1203	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3607-3609)ccC>ccT		nascent polypeptide-associated complex alpha subunit							64.0	76.0	73.0					12																	57111705		1233	2868	4101	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111705G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3609C>T	12.37:g.57111705G>A						NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron	p.P1203P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3890	-			0						Silent	SNP	ENST00000454682.1	37	c.3609C>T																																																																																					0.642	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		4	142	0	0	0	0.150653	0	4	142				
CCSER2	54462	broad.mit.edu	37	10	86132184	86132184	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr10:86132184C>G	ENST00000224756.8	+	2	1561	c.1376C>G	c.(1375-1377)gCc>gGc	p.A459G	CCSER2_ENST00000372088.2_Missense_Mutation_p.A459G|CCSER2_ENST00000359979.4_Missense_Mutation_p.A459G	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	459					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											AATGAAAAAGCCTTCAGTAAA	0.328																																						ENST00000224756.8																			0											c.(1375-1377)gCc>gGc		coiled-coil serine-rich protein 2							82.0	92.0	89.0					10																	86132184		2203	4296	6499	SO:0001583	missense	54462							g.chr10:86132184C>G		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1376C>G	10.37:g.86132184C>G	ENSP00000224756:p.Ala459Gly					CCSER2_ENST00000372088.2_Missense_Mutation_p.A459G|CCSER2_ENST00000359979.4_Missense_Mutation_p.A459G	p.A459G	NM_018999.2	NP_061872.2					2	1561	+								B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	c.1376C>G	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.305629	0.01353	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.46819	0.86;2.2;2.2	4.51	0.276	0.15663	.	2.788850	0.01328	N	0.011146	T	0.28732	0.0712	N	0.08118	0	0.09310	N	0.999997	B;B;B	0.19200	0.034;0.013;0.034	B;B;B	0.19391	0.025;0.025;0.025	T	0.14144	-1.0483	10	0.37606	T	0.19	2.2605	4.76	0.13102	0.1225:0.6021:0.1198:0.1556	.	459;459;459	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	G	459	ENSP00000353068:A459G;ENSP00000224756:A459G;ENSP00000361160:A459G	ENSP00000224756:A459G	A	+	2	0	FAM190B	86122164	0.001000	0.12720	0.051000	0.19133	0.428000	0.31595	0.476000	0.22180	-0.387000	0.07809	-0.797000	0.03246	GCC		0.328	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		5	97	0	0	0	0.278610	0	5	97				
ZNF780B	163131	broad.mit.edu	37	19	40541912	40541912	+	Missense_Mutation	SNP	G	G	C	rs139701679	byFrequency	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:40541912G>C	ENST00000434248.1	-	5	919	c.854C>G	c.(853-855)gCc>gGc	p.A285G	ZNF780B_ENST00000221355.6_Missense_Mutation_p.A137G	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	285					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)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACGATTAAAGGCTTTCCCACA	0.373													g|||	2	0.000399361	0.0015	0.0	5008	,	,		21938	0.0		0.0	False		,,,				2504	0.0					ENST00000434248.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(853-855)gCc>gGc		zinc finger protein 780B							111.0	117.0	115.0					19																	40541912		2203	4300	6503	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40541912G>C	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.854C>G	19.37:g.40541912G>C	ENSP00000391641:p.Ala285Gly					ZNF780B_ENST00000221355.6_Missense_Mutation_p.A137G	p.A285G	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN			5	919	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		285					B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	c.854C>G	CCDS46077.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	11.97	1.796160	0.31777	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.52295	0.67;0.67	2.21	-0.286	0.12862	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37073	0.0990	L	0.41573	1.285	0.09310	N	0.999997	B	0.10296	0.003	B	0.14023	0.01	T	0.28138	-1.0053	9	0.44086	T	0.13	.	10.2069	0.43118	0.0:0.6675:0.3325:0.0	.	285	Q9Y6R6	Z780B_HUMAN	G	285;137	ENSP00000391641:A285G;ENSP00000221355:A137G	ENSP00000221355:A137G	A	-	2	0	ZNF780B	45233752	0.000000	0.05858	0.499000	0.27577	0.707000	0.40811	-1.013000	0.03645	-0.287000	0.09064	-0.648000	0.03929	GCC		0.373	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		4	88	0	0	0	0.335167	0	4	88				
RFTN1	23180	broad.mit.edu	37	3	16364942	16364942	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:16364942G>C	ENST00000334133.4	-	9	1545	c.1273C>G	c.(1273-1275)Cag>Gag	p.Q425E	RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Missense_Mutation_p.Q389E|OXNAD1_ENST00000605932.1_Intron|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000606098.1_Intron|OXNAD1_ENST00000544043.1_Intron	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	425					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AAGACAATCTGCTTGGTGGAT	0.473																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(1273-1275)Cag>Gag		raftlin, lipid raft linker 1							104.0	93.0	97.0					3																	16364942		2203	4300	6503	SO:0001583	missense	23180					plasma membrane		g.chr3:16364942G>C	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1273C>G	3.37:g.16364942G>C	ENSP00000334153:p.Gln425Glu					OXNAD1_ENST00000435829.2_Intron|RFTN1_ENST00000432519.1_Missense_Mutation_p.Q389E|OXNAD1_ENST00000605932.1_Intron|OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR	p.Q425E	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			9	1545	-			425					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	c.1273C>G	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625728	0.87560	.	.	ENSG00000131378	ENST00000432519;ENST00000334133	T;T	0.39406	1.08;1.08	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.66829	0.2829	M	0.80183	2.485	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.71497	-0.4575	10	0.87932	D	0	-28.0873	15.9975	0.80262	0.0:0.0:1.0:0.0	.	389;425	G3XAJ6;Q14699	.;RFTN1_HUMAN	E	389;425	ENSP00000403926:Q389E;ENSP00000334153:Q425E	ENSP00000334153:Q425E	Q	-	1	0	RFTN1	16339946	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.255000	0.89846	2.503000	0.84419	0.555000	0.69702	CAG		0.473	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		14	52	0	0	0	0.539581	0	14	52				
GAB2	9846	broad.mit.edu	37	11	77961404	77961404	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr11:77961404G>A	ENST00000361507.4	-	3	504	c.419C>T	c.(418-420)tCt>tTt	p.S140F	GAB2_ENST00000340149.2_Missense_Mutation_p.S102F|GAB2_ENST00000526030.1_Intron	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	140					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			AGCTGGAGAAGAGCGGGGGCC	0.517																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(418-420)tCt>tTt		GRB2-associated binding protein 2							91.0	99.0	96.0					11																	77961404		2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77961404G>A	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.419C>T	11.37:g.77961404G>A	ENSP00000354952:p.Ser140Phe					GAB2_ENST00000526030.1_Intron|GAB2_ENST00000340149.2_Missense_Mutation_p.S102F	p.S140F	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		3	504	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		140					A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.419C>T	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.790008	0.70337	.	.	ENSG00000033327	ENST00000340149;ENST00000361507;ENST00000528886;ENST00000530915	T;T;T;T	0.52754	2.33;2.56;0.7;0.65	5.46	5.46	0.80206	.	0.249707	0.32444	U	0.006097	T	0.68137	0.2968	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.67503	-0.5654	10	0.56958	D	0.05	-13.5061	19.5125	0.95148	0.0:0.0:1.0:0.0	.	140	Q9UQC2	GAB2_HUMAN	F	102;140;102;102	ENSP00000343959:S102F;ENSP00000354952:S140F;ENSP00000433762:S102F;ENSP00000431868:S102F	ENSP00000343959:S102F	S	-	2	0	GAB2	77639052	1.000000	0.71417	0.996000	0.52242	0.103000	0.19146	9.016000	0.93645	2.840000	0.97914	0.655000	0.94253	TCT		0.517	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		28	62	0	0	0	0.729181	0	28	62				
ASB7	140460	broad.mit.edu	37	15	101169708	101169708	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr15:101169708G>A	ENST00000332783.7	+	5	1063	c.278G>A	c.(277-279)cGg>cAg	p.R93Q	ASB7_ENST00000343276.4_Missense_Mutation_p.R93Q|ASB7_ENST00000558747.1_Intron	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	93					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			ATGCATGGCCGGGCCCGCATT	0.483																																						ENST00000332783.7																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16						c.(277-279)cGg>cAg		ankyrin repeat and SOCS box containing 7							59.0	60.0	60.0					15																	101169708		2203	4300	6503	SO:0001583	missense	140460				intracellular signal transduction			g.chr15:101169708G>A		CCDS10387.1, CCDS10388.1	15q26.3	2013-01-10	2011-01-25		ENSG00000183475	ENSG00000183475		"""Ankyrin repeat domain containing"""	17182	protein-coding gene	gene with protein product		615052	"""ankyrin repeat and SOCS box-containing 7"""				Standard	NM_024708		Approved		uc002bwk.3	Q9H672	OTTHUMG00000149868	ENST00000332783.7:c.278G>A	15.37:g.101169708G>A	ENSP00000328327:p.Arg93Gln					ASB7_ENST00000558747.1_Intron|ASB7_ENST00000343276.4_Missense_Mutation_p.R93Q	p.R93Q	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		5	1063	+	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		93					A8K1E5|Q6GSJ6|Q7Z4S3	Missense_Mutation	SNP	ENST00000332783.7	37	c.278G>A	CCDS10387.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634784	0.87760	.	.	ENSG00000183475	ENST00000332783;ENST00000343276	T;T	0.52754	0.65;0.65	5.27	5.27	0.74061	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.46034	0.1372	L	0.31294	0.92	0.80722	D	1	P;B	0.48640	0.913;0.414	P;B	0.47645	0.553;0.031	T	0.27297	-1.0078	10	0.30854	T	0.27	-4.966	19.2541	0.93938	0.0:0.0:1.0:0.0	.	93;93	Q9H672;Q9H672-2	ASB7_HUMAN;.	Q	93	ENSP00000328327:R93Q;ENSP00000339819:R93Q	ENSP00000328327:R93Q	R	+	2	0	ASB7	98987231	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.240000	0.95396	2.618000	0.88619	0.455000	0.32223	CGG		0.483	ASB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313617.1	NM_024708		3	75	0	0	0	0.115264	0	3	75				
AC079807.4	0	broad.mit.edu	37	2	48401774	48401776	+	lincRNA	DEL	AGG	AGG	-	rs375790713|rs561647206	byFrequency	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr2:48401774_48401776delAGG	ENST00000447571.1	-	0	193																		p.0?(2)									gaggagggaaaggaggaggagga	0.438																																						ENST00000447571.1																			2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)																																																0							g.chr2:48401774_48401776delAGG																													2.37:g.48401783_48401785delAGG														0	193	-									RNA	DEL	ENST00000447571.1	37																																																																																						0.438	AC079807.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000323780.4			2	4						2	4	---	---	---	---
DPY19L2P1	554236	broad.mit.edu	37	7	35131386	35131387	+	RNA	INS	-	-	G			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr7:35131386_35131387insG	ENST00000436258.1	-	0	1982_1983							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										tgtgtgtgtgtAAAAATTTTCC	0.386																																						ENST00000436258.1																			0																																																			0							g.chr7:35131386_35131387insG	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131386_35131387insG														0	1982_1983	-								B4E2E3	RNA	INS	ENST00000436258.1	37																																																																																						0.386	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			2	4						2	4	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89407165	89407165	+	RNA	DEL	T	T	-	rs112016970		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr11:89407165delT	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CATCAATGACTTTTTTTTTTT	0.303																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89407165delT	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89407165delT										Q9HBA9	FOH1B_HUMAN			0	1114	+									RNA	DEL	ENST00000532352.1	37																																																																																						0.303	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		3	5						3	5	---	---	---	---
