#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
PRKCSH	5589	broad.mit.edu	37	19	11559445	11559445	+	Splice_Site	SNP	G	G	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr19:11559445G>T	ENST00000589838.1	+	13	1265		c.e13+1		PRKCSH_ENST00000592741.1_Splice_Site|PRKCSH_ENST00000412601.1_Splice_Site|PRKCSH_ENST00000587327.1_Splice_Site|PRKCSH_ENST00000591462.1_Splice_Site|PRKCSH_ENST00000252455.2_Splice_Site			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H						cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CCACCAACGAGTGCGTCCCAG	0.617																																						ENST00000252455.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.e14+1		protein kinase C substrate 80K-H							72.0	77.0	75.0					19																	11559445		2203	4300	6503	SO:0001630	splice_region_variant	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11559445G>T		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.1265+1G>T	19.37:g.11559445G>T						PRKCSH_ENST00000412601.1_Splice_Site|PRKCSH_ENST00000592741.1_Splice_Site|PRKCSH_ENST00000591462.1_Splice_Site|PRKCSH_ENST00000587327.1_Splice_Site|PRKCSH_ENST00000589838.1_Splice_Site		NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN			14	1601	+								A8K318|Q96BU9|Q96D06|Q9P0W9	Splice_Site	SNP	ENST00000589838.1	37		CCDS32911.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.679084	0.68042	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6404	0.85070	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRKCSH	11420445	1.000000	0.71417	0.953000	0.39169	0.598000	0.36846	8.326000	0.90010	2.217000	0.71921	0.456000	0.33151	.		0.617	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1		Intron	24	64	1	0	7.92952e-12	0.003954	1.42265e-11	24	64				
MAP3K6	9064	broad.mit.edu	37	1	27685202	27685202	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr1:27685202G>A	ENST00000493901.1	-	20	2820	c.2581C>T	c.(2581-2583)Cag>Tag	p.Q861*	MAP3K6_ENST00000357582.2_Nonsense_Mutation_p.Q861*|MAP3K6_ENST00000374040.3_Nonsense_Mutation_p.Q853*	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	861	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGTCTCACCTGAAACATGGCA	0.617																																						ENST00000374040.3																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(2557-2559)Cag>Tag		mitogen-activated protein kinase kinase kinase 6							40.0	41.0	40.0					1																	27685202		2203	4300	6503	SO:0001587	stop_gained	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27685202G>A	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.2581C>T	1.37:g.27685202G>A	ENSP00000419591:p.Gln861*					MAP3K6_ENST00000357582.2_Nonsense_Mutation_p.Q861*|MAP3K6_ENST00000493901.1_Nonsense_Mutation_p.Q861*	p.Q853*			O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	18	2817	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	861			Protein kinase.		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Nonsense_Mutation	SNP	ENST00000493901.1	37	c.2557C>T	CCDS299.1	.	.	.	.	.	.	.	.	.	.	G	42	9.303070	0.99130	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582	.	.	.	5.4	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0132	0.47675	0.0:0.0:0.6576:0.3424	.	.	.	.	X	853;861;584;861	.	ENSP00000350195:Q861X	Q	-	1	0	MAP3K6	27557789	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	4.472000	0.60189	2.547000	0.85894	0.561000	0.74099	CAG		0.617	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		18	45	0	0	0	0.006122	0	18	45				
HHAT	55733	broad.mit.edu	37	1	210591549	210591549	+	Silent	SNP	C	C	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr1:210591549C>T	ENST00000367010.1	+	7	963	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L	HHAT_ENST00000391905.3_Silent_p.L246L|HHAT_ENST00000308852.6_Silent_p.L201L|HHAT_ENST00000545781.1_Silent_p.L183L|HHAT_ENST00000545154.1_Silent_p.L247L|HHAT_ENST00000413764.2_Silent_p.L246L|HHAT_ENST00000537898.1_Silent_p.L181L|HHAT_ENST00000541565.1_Silent_p.L109L|HHAT_ENST00000261458.3_Silent_p.L246L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	246					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGTCCTGGCCCTGGGGCTGGG	0.567																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(736-738)Ctg>Ttg		hedgehog acyltransferase							130.0	122.0	125.0					1																	210591549		2203	4300	6503	SO:0001819	synonymous_variant	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210591549C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.736C>T	1.37:g.210591549C>T						HHAT_ENST00000308852.6_Silent_p.L201L|HHAT_ENST00000537898.1_Silent_p.L181L|HHAT_ENST00000261458.3_Silent_p.L246L|HHAT_ENST00000391905.3_Silent_p.L246L|HHAT_ENST00000545154.1_Silent_p.L247L|HHAT_ENST00000413764.2_Silent_p.L246L|HHAT_ENST00000545781.1_Silent_p.L183L|HHAT_ENST00000541565.1_Silent_p.L109L	p.L246L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	7	963	+			246					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Silent	SNP	ENST00000367010.1	37	c.736C>T	CCDS1495.1																																																																																				0.567	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		50	165	0	0	0	0.014410	0	50	165				
ZXDC	79364	broad.mit.edu	37	3	126189759	126189759	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr3:126189759G>A	ENST00000389709.3	-	4	1302	c.1249C>T	c.(1249-1251)Ccg>Tcg	p.P417S	ZXDC_ENST00000336332.5_Missense_Mutation_p.P417S	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	417					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CACTCGAACGGCTTTGTGCCT	0.463																																						ENST00000389709.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1249-1251)Ccg>Tcg		ZXD family zinc finger C							115.0	123.0	120.0					3																	126189759		2198	4300	6498	SO:0001583	missense	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126189759G>A	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1249C>T	3.37:g.126189759G>A	ENSP00000374359:p.Pro417Ser					ZXDC_ENST00000336332.5_Missense_Mutation_p.P417S	p.P417S	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	4	1302	-			417					C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	c.1249C>T	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643899	0.67244	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.55930	0.49;0.49	4.61	4.61	0.57282	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.65386	0.2686	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.68957	-0.5272	10	0.87932	D	0	-16.4777	15.2783	0.73760	0.0:0.0:1.0:0.0	.	417;417	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	S	417	ENSP00000374359:P417S;ENSP00000337694:P417S	ENSP00000337694:P417S	P	-	1	0	ZXDC	127672449	1.000000	0.71417	0.990000	0.47175	0.358000	0.29455	9.848000	0.99507	2.268000	0.75426	0.484000	0.47621	CCG		0.463	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		33	89	0	0	0	0.007835	0	33	89				
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487		TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667																																						ENST00000391413.2																			6	Substitution - coding silent(6)	p.R51R(6)	endometrium(3)|kidney(2)|lung(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(151-153)agG>agA		keratin associated protein 4-11							9.0	15.0	13.0					17																	39274415		682	1579	2261	SO:0001819	synonymous_variant	653240					keratin filament		g.chr17:39274415C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.153G>A	17.37:g.39274415C>T							p.R51R	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	191	-		Breast(137;0.000496)	51		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Silent	SNP	ENST00000391413.2	37	c.153G>A	CCDS45675.1																																																																																				0.667	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			6	99	0	0	0	0.004482	0	6	99				
STOML1	9399	broad.mit.edu	37	15	74282792	74282792	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr15:74282792G>A	ENST00000316900.5	-	2	264	c.140C>T	c.(139-141)cCc>cTc	p.P47L	STOML1_ENST00000359750.4_Missense_Mutation_p.P47L|STOML1_ENST00000561656.1_5'UTR|STOML1_ENST00000316911.6_Missense_Mutation_p.P47L|STOML1_ENST00000564777.1_Missense_Mutation_p.P47L|STOML1_ENST00000541638.1_Missense_Mutation_p.P5L	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	47						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CCAGCTCTGGGGTACATCTGC	0.582																																						ENST00000316900.5																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(139-141)cCc>cTc		stomatin (EPB72)-like 1							67.0	62.0	64.0					15																	74282792		2197	4296	6493	SO:0001583	missense	9399					integral to membrane	sterol binding	g.chr15:74282792G>A	Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"""stomatin-like 1"", ""stomatin (EBP72)-like 1"""	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.140C>T	15.37:g.74282792G>A	ENSP00000319323:p.Pro47Leu					STOML1_ENST00000359750.4_Missense_Mutation_p.P47L|STOML1_ENST00000316911.6_Missense_Mutation_p.P47L|STOML1_ENST00000561656.1_5'UTR|STOML1_ENST00000541638.1_Missense_Mutation_p.P5L|STOML1_ENST00000564777.1_Missense_Mutation_p.P47L	p.P47L	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN			2	264	-			47					B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Missense_Mutation	SNP	ENST00000316900.5	37	c.140C>T	CCDS10254.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641379	0.47153	.	.	ENSG00000067221	ENST00000316900;ENST00000316911;ENST00000541638;ENST00000359750	D;D;D;D	0.97138	-2.96;-2.59;-3.02;-4.26	5.01	4.03	0.46877	.	0.728052	0.12862	N	0.433019	D	0.94291	0.8166	N	0.24115	0.695	0.43673	D	0.9961	P;P;P;P;P;P	0.46142	0.799;0.842;0.873;0.842;0.651;0.651	B;B;P;B;B;B	0.44990	0.343;0.236;0.466;0.236;0.165;0.165	D	0.93515	0.6856	10	0.66056	D	0.02	-7.1209	12.548	0.56212	0.0:0.1691:0.8309:0.0	.	5;47;47;47;47;47	B4DUU5;E7ESC0;Q9UBI4-2;Q4PNR4;Q53HB6;Q9UBI4	.;.;.;.;.;STML1_HUMAN	L	47;47;5;47	ENSP00000319323:P47L;ENSP00000319384:P47L;ENSP00000442478:P5L;ENSP00000352788:P47L	ENSP00000319323:P47L	P	-	2	0	STOML1	72069845	1.000000	0.71417	0.528000	0.27938	0.599000	0.36880	6.317000	0.72862	2.338000	0.79540	0.555000	0.69702	CCC		0.582	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269022.1	NM_004809		3	25	0	0	0	0.004672	0	3	25				
ABCA6	23460	broad.mit.edu	37	17	67102297	67102297	+	Silent	SNP	C	C	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr17:67102297C>A	ENST00000284425.2	-	19	2619	c.2445G>T	c.(2443-2445)ctG>ctT	p.L815L		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	815					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAGAGTGAGCCAGCTCCATTT	0.413																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(2443-2445)ctG>ctT		ATP-binding cassette, sub-family A (ABC1), member 6							114.0	102.0	106.0					17																	67102297		2203	4300	6503	SO:0001819	synonymous_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67102297C>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2445G>T	17.37:g.67102297C>A							p.L815L	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			19	2619	-	Breast(10;5.65e-12)		815					Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	c.2445G>T	CCDS11683.1																																																																																				0.413	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		17	60	1	0	1.33834e-09	0.007413	2.33253e-09	17	60				
ASPM	259266	broad.mit.edu	37	1	197060037	197060037	+	Silent	SNP	G	G	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr1:197060037G>A	ENST00000367409.4	-	23	9835	c.9579C>T	c.(9577-9579)cgC>cgT	p.R3193R	ASPM_ENST00000294732.7_Silent_p.R1608R|ASPM_ENST00000367408.1_Silent_p.R858R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3193	IQ 38. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GGAGAAAATGGCGCACTGCTT	0.353																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(9577-9579)cgC>cgT		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							111.0	108.0	109.0					1																	197060037		2203	4300	6503	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197060037G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9579C>T	1.37:g.197060037G>A						ASPM_ENST00000294732.7_Silent_p.R1608R|ASPM_ENST00000367408.1_Silent_p.R858R	p.R3193R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			23	9835	-			3193			IQ 38.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.9579C>T	CCDS1389.1																																																																																				0.353	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		15	86	0	0	0	0.006122	0	15	86				
POM121L12	285877	broad.mit.edu	37	7	53104067	53104067	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr7:53104067C>T	ENST00000408890.4	+	1	719	c.703C>T	c.(703-705)Cct>Tct	p.P235S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	235										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CAGGCCAGGGCCTCTGAAGCC	0.642																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(703-705)Cct>Tct		POM121 transmembrane nucleoporin-like 12							42.0	50.0	47.0					7																	53104067		1960	4135	6095	SO:0001583	missense	285877							g.chr7:53104067C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.703C>T	7.37:g.53104067C>T	ENSP00000386133:p.Pro235Ser						p.P235S	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	719	+			235					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.703C>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	3.280	-0.147274	0.06627	.	.	ENSG00000221900	ENST00000408890	T	0.14391	2.51	2.16	1.26	0.21427	.	.	.	.	.	T	0.14013	0.0339	N	0.26042	0.785	0.09310	N	1	D	0.60160	0.987	P	0.57283	0.817	T	0.20739	-1.0266	9	0.18276	T	0.48	.	4.7581	0.13093	0.0:0.8156:0.0:0.1844	.	235	Q8N7R1	P1L12_HUMAN	S	235	ENSP00000386133:P235S	ENSP00000386133:P235S	P	+	1	0	POM121L12	53071561	0.000000	0.05858	0.064000	0.19789	0.352000	0.29268	0.119000	0.15626	0.488000	0.27723	-0.258000	0.10820	CCT		0.642	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		19	69	0	0	0	0.008871	0	19	69				
TOM1L2	146691	broad.mit.edu	37	17	17766051	17766051	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr17:17766051C>T	ENST00000379504.3	-	11	1279	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	TOM1L2_ENST00000535933.1_Missense_Mutation_p.R346H|TOM1L2_ENST00000581396.1_Missense_Mutation_p.R349H|TOM1L2_ENST00000542206.1_Missense_Mutation_p.R251H|TOM1L2_ENST00000478943.1_Missense_Mutation_p.R132H|TOM1L2_ENST00000318094.10_Missense_Mutation_p.R354H|TOM1L2_ENST00000577517.1_5'Flank|TOM1L2_ENST00000540946.1_Missense_Mutation_p.R301H|TOM1L2_ENST00000395739.4_Missense_Mutation_p.R354H	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	399					intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					ATACGTCTTGCGCTGCTCAGC	0.527																																					Melanoma(192;2505 2909 14455 25269)	ENST00000581396.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10						c.(1045-1047)cGc>cAc		target of myb1-like 2 (chicken)							187.0	196.0	193.0					17																	17766051		2203	4300	6503	SO:0001583	missense	146691				intracellular protein transport	intracellular		g.chr17:17766051C>T	AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.1196G>A	17.37:g.17766051C>T	ENSP00000368818:p.Arg399His					TOM1L2_ENST00000542206.1_Missense_Mutation_p.R251H|TOM1L2_ENST00000540946.1_Missense_Mutation_p.R301H|TOM1L2_ENST00000535933.1_Missense_Mutation_p.R346H|TOM1L2_ENST00000395739.4_Missense_Mutation_p.R354H|TOM1L2_ENST00000478943.1_Missense_Mutation_p.R132H|TOM1L2_ENST00000379504.3_Missense_Mutation_p.R399H|TOM1L2_ENST00000318094.10_Missense_Mutation_p.R354H	p.R349H	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN			10	1142	-	all_neural(463;0.228)		399					B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Missense_Mutation	SNP	ENST00000379504.3	37	c.1046G>A	CCDS42270.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564552	0.86439	.	.	ENSG00000175662	ENST00000379504;ENST00000318094;ENST00000395739;ENST00000535933;ENST00000540946;ENST00000542206	T;T;T;T;T	0.50277	1.8;1.78;1.74;1.73;0.75	5.88	1.72	0.24424	.	0.216900	0.49305	N	0.000150	T	0.55497	0.1924	L	0.48362	1.52	0.47698	D	0.999497	B;P;D;D;B;B	0.89917	0.066;0.698;1.0;0.999;0.049;0.082	B;B;D;D;B;B	0.71414	0.01;0.098;0.973;0.923;0.006;0.014	T	0.45760	-0.9239	10	0.32370	T	0.25	-7.2771	10.4987	0.44794	0.0:0.7416:0.0:0.2584	.	301;251;346;354;399;349	B7Z2U2;F5H3S6;B7Z2L7;Q6ZVM7-3;Q6ZVM7;Q6ZVM7-2	.;.;.;.;TM1L2_HUMAN;.	H	399;349;354;346;301;251	ENSP00000368818:R399H;ENSP00000379088:R354H;ENSP00000438621:R346H;ENSP00000437655:R301H;ENSP00000445188:R251H	ENSP00000312860:R349H	R	-	2	0	TOM1L2	17706776	0.996000	0.38824	0.965000	0.40720	0.969000	0.65631	2.836000	0.48183	0.116000	0.18110	0.655000	0.94253	CGC		0.527	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1			5	360	0	0	0	0.000602	0	5	360				
NYNRIN	57523	broad.mit.edu	37	14	24877450	24877450	+	Silent	SNP	C	C	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr14:24877450C>T	ENST00000382554.3	+	3	892	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	192					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCTGCTGAGCCTGGTGCGGGA	0.652																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(574-576)Ctg>Ttg		NYN domain and retroviral integrase containing							19.0	25.0	23.0					14																	24877450		2078	4207	6285	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24877450C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.574C>T	14.37:g.24877450C>T							p.L192L	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			3	892	+			192					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.574C>T	CCDS45090.1																																																																																				0.652	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			6	15	0	0	0	0.001984	0	6	15				
BRCA2	675	broad.mit.edu	37	13	32937551	32937551	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr13:32937551G>T	ENST00000380152.3	+	18	8445	c.8212G>T	c.(8212-8214)Gct>Tct	p.A2738S	BRCA2_ENST00000544455.1_Missense_Mutation_p.A2738S			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2738					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCCCCTCTTAGCTGTCTTAAA	0.458			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(8212-8214)Gct>Tct	Homologous recombination	breast cancer 2, early onset							129.0	123.0	125.0					13																	32937551		2203	4300	6503	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32937551G>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8212G>T	13.37:g.32937551G>T	ENSP00000369497:p.Ala2738Ser	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.A2738S	p.A2738S	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	18	8439	+		Lung SC(185;0.0262)	2738					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.8212G>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505659	0.44558	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.80214	-1.35;-1.35	5.49	4.64	0.57946	Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 1 (1);	0.236160	0.42294	D	0.000723	T	0.77678	0.4166	L	0.48218	1.51	0.39658	D	0.970577	P	0.35821	0.523	B	0.43018	0.405	T	0.76233	-0.3034	10	0.38643	T	0.18	.	9.7781	0.40632	0.0727:0.0:0.7872:0.14	.	2738	P51587	BRCA2_HUMAN	S	2738	ENSP00000369497:A2738S;ENSP00000439902:A2738S	ENSP00000369497:A2738S	A	+	1	0	BRCA2	31835551	0.994000	0.37717	0.013000	0.15412	0.896000	0.52359	4.327000	0.59247	1.321000	0.45227	0.313000	0.20887	GCT		0.458	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		27	80	1	0	1.17739e-12	0.005443	2.17639e-12	27	80				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		4	11	1	0	0.00024832	0.009096	0.000409392	4	11				
AOC3	8639	broad.mit.edu	37	17	41008397	41008397	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr17:41008397T>C	ENST00000308423.2	+	4	2282	c.2122T>C	c.(2122-2124)Tat>Cat	p.Y708H	AOC3_ENST00000591562.1_Missense_Mutation_p.Y165H	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	708					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CCTCCGACCCTATAACTTCTT	0.572																																					NSCLC(3;192 220 10664 11501 16477)	ENST00000308423.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41						c.(2122-2124)Tat>Cat		amine oxidase, copper containing 3	Hydralazine(DB01275)|Phenelzine(DB00780)						84.0	83.0	83.0					17																	41008397		2203	4300	6503	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41008397T>C	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.2122T>C	17.37:g.41008397T>C	ENSP00000312326:p.Tyr708His					AOC3_ENST00000591562.1_Missense_Mutation_p.Y165H	p.Y708H	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	4	2282	+		Breast(137;0.000143)	708					B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.2122T>C	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	T	17.15	3.315582	0.60524	.	.	ENSG00000131471	ENST00000308423	T	0.03580	3.88	4.91	4.91	0.64330	Copper amine oxidase, C-terminal (3);	0.066891	0.64402	D	0.000009	T	0.09113	0.0225	L	0.38838	1.175	0.43890	D	0.996515	D	0.54397	0.966	D	0.64237	0.923	T	0.48422	-0.9037	10	0.13470	T	0.59	.	14.6957	0.69121	0.0:0.0:0.0:1.0	.	708	Q16853	AOC3_HUMAN	H	708	ENSP00000312326:Y708H	ENSP00000312326:Y708H	Y	+	1	0	AOC3	38261923	0.978000	0.34361	1.000000	0.80357	0.988000	0.76386	2.072000	0.41510	2.061000	0.61500	0.459000	0.35465	TAT		0.572	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		3	138	0	0	0	0.004672	0	3	138				
C11orf87	399947	broad.mit.edu	37	11	109294460	109294460	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr11:109294460G>T	ENST00000327419.6	+	2	504	c.101G>T	c.(100-102)gGt>gTt	p.G34V	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	34						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GGCAACACGGGTGCCCGCGGC	0.672																																						ENST00000327419.6																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(100-102)gGt>gTt		chromosome 11 open reading frame 87							55.0	49.0	51.0					11																	109294460		2197	4297	6494	SO:0001583	missense	399947					integral to membrane		g.chr11:109294460G>T	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"""neuronal integral membrane protein 1"""					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.101G>T	11.37:g.109294460G>T	ENSP00000331581:p.Gly34Val					RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	p.G34V	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN			2	504	+			34					B4E169	Missense_Mutation	SNP	ENST00000327419.6	37	c.101G>T	CCDS31672.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.291968	0.23564	.	.	ENSG00000185742	ENST00000327419	.	.	.	3.66	2.75	0.32379	.	0.944717	0.08631	U	0.917077	T	0.26882	0.0658	N	0.14661	0.345	0.09310	N	0.999991	B	0.12630	0.006	B	0.11329	0.006	T	0.23048	-1.0199	9	0.66056	D	0.02	.	7.1432	0.25568	0.1269:0.0:0.8731:0.0	.	34	Q6NUJ2	CK087_HUMAN	V	34	.	ENSP00000331581:G34V	G	+	2	0	C11orf87	108799670	.	.	0.003000	0.11579	0.038000	0.13279	.	.	0.907000	0.36646	-0.379000	0.06801	GGT		0.672	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		12	32	1	0	2.27111e-07	0.013537	3.84827e-07	12	32				
ZNF311	282890	broad.mit.edu	37	6	28963566	28963566	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr6:28963566G>A	ENST00000377179.3	-	7	1725	c.1213C>T	c.(1213-1215)Cac>Tac	p.H405Y	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ATTCTTATGTGTTTGGTGAGG	0.512																																						ENST00000377179.3																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						c.(1213-1215)Cac>Tac		zinc finger protein 311							85.0	80.0	82.0					6																	28963566		1510	2708	4218	SO:0001583	missense	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28963566G>A	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.1213C>T	6.37:g.28963566G>A	ENSP00000366384:p.His405Tyr					ZNF311_ENST00000483450.1_5'UTR	p.H405Y	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN			7	1725	-			405					A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	c.1213C>T	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870876	0.72065	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	D	0.86769	-2.17	3.57	3.57	0.40892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94371	0.8190	H	0.95365	3.66	0.35989	D	0.836552	D	0.89917	1.0	D	0.83275	0.996	D	0.95764	0.8803	9	0.87932	D	0	-4.4926	13.4785	0.61322	0.0:0.0:1.0:0.0	.	405	Q5JNZ3	ZN311_HUMAN	Y	405;313	ENSP00000366384:H405Y	ENSP00000366384:H405Y	H	-	1	0	ZNF311	29071545	1.000000	0.71417	0.845000	0.33349	0.843000	0.47879	8.189000	0.89712	1.928000	0.55862	0.585000	0.79938	CAC		0.512	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		12	40	0	0	0	0.010729	0	12	40				
NPHS1	4868	broad.mit.edu	37	19	36342241	36342241	+	Missense_Mutation	SNP	G	G	T	rs386833934		TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr19:36342241G>T	ENST00000378910.5	-	3	319	c.320C>A	c.(319-321)gCg>gAg	p.A107E	NPHS1_ENST00000591817.1_5'Flank|NPHS1_ENST00000353632.6_Missense_Mutation_p.A107E	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	107	Ig-like C2-type 1.		A -> T (in NPHS1). {ECO:0000269|PubMed:18614772}.|A -> V (in NPHS1). {ECO:0000269|PubMed:20172850}.		cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCATACTCCGCGTCATCGCT	0.642																																						ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(319-321)gCg>gAg		nephrosis 1, congenital, Finnish type (nephrin)							30.0	30.0	30.0					19																	36342241		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36342241G>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.320C>A	19.37:g.36342241G>T	ENSP00000368190:p.Ala107Glu					NPHS1_ENST00000353632.6_Missense_Mutation_p.A107E	p.A107E	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	319	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		107		A -> T (in NPHS1).|A -> V (in NPHS1).	Ig-like C2-type 1.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.320C>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019374	0.75275	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.53857	0.6;0.6	5.92	5.92	0.95590	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.061281	0.64402	D	0.000006	T	0.79405	0.4440	M	0.91561	3.22	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.83142	-0.0108	10	0.87932	D	0	-18.7473	17.8963	0.88890	0.0:0.0:1.0:0.0	.	107	O60500	NPHN_HUMAN	E	107	ENSP00000368190:A107E;ENSP00000343634:A107E	ENSP00000343634:A107E	A	-	2	0	NPHS1	41034081	0.979000	0.34478	0.646000	0.29493	0.179000	0.23085	3.644000	0.54381	2.828000	0.97474	0.650000	0.86243	GCG		0.642	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			10	15	1	0	0.000673444	0.008291	0.00108105	10	15				
NHS	4810	broad.mit.edu	37	X	17742462	17742462	+	Silent	SNP	T	T	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chrX:17742462T>A	ENST00000380060.3	+	5	1427	c.1089T>A	c.(1087-1089)gtT>gtA	p.V363V	NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Silent_p.V207V	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	384					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GCTCTCTGGTTCATTCACAAT	0.423																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(1087-1089)gtT>gtA		Nance-Horan syndrome (congenital cataracts and dental anomalies)							138.0	116.0	124.0					X																	17742462		2203	4300	6503	SO:0001819	synonymous_variant	4810					nucleus		g.chrX:17742462T>A		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1089T>A	X.37:g.17742462T>A						NHS_ENST00000398097.3_Silent_p.V207V|NHS_ENST00000485305.1_3'UTR	p.V363V	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			5	1427	+	Hepatocellular(33;0.183)		363					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	ENST00000380060.3	37	c.1089T>A	CCDS14181.1																																																																																				0.423	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		40	120	0	0	0	0.008740	0	40	120				
PIK3R5	23533	broad.mit.edu	37	17	8789831	8789831	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr17:8789831G>A	ENST00000447110.1	-	13	2121	c.1997C>T	c.(1996-1998)gCc>gTc	p.A666V	PIK3R5_ENST00000581552.1_Missense_Mutation_p.A666V|PIK3R5_ENST00000584803.1_Missense_Mutation_p.A665V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	666	Interaction with beta-gamma G protein dimers. {ECO:0000250}.				blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CGGTCTGGCGGCAAAGCGGCA	0.662																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(1996-1998)gCc>gTc		phosphoinositide-3-kinase, regulatory subunit 5							54.0	60.0	58.0					17																	8789831		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8789831G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1997C>T	17.37:g.8789831G>A	ENSP00000392812:p.Ala666Val					PIK3R5_ENST00000584803.1_Missense_Mutation_p.A665V|PIK3R5_ENST00000581552.1_Missense_Mutation_p.A666V	p.A666V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			13	2121	-			666			Interaction with G beta gamma proteins (By similarity).		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.1997C>T	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744802	0.49151	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	D	0.81499	-1.5	4.78	3.73	0.42828	.	0.115341	0.64402	D	0.000018	D	0.83714	0.5314	L	0.34521	1.04	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.85647	0.1280	10	0.72032	D	0.01	-17.27	14.0102	0.64490	0.0:0.1527:0.8473:0.0	.	666	Q8WYR1	PI3R5_HUMAN	V	666	ENSP00000392812:A666V	ENSP00000269300:A666V	A	-	2	0	PIK3R5	8730556	1.000000	0.71417	0.875000	0.34327	0.915000	0.54546	6.068000	0.71201	2.199000	0.70637	0.313000	0.20887	GCC		0.662	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		4	86	0	0	0	0.009096	0	4	86				
NGFRAP1	27018	broad.mit.edu	37	X	102632483	102632483	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chrX:102632483C>T	ENST00000372645.3	+	3	391	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C	NGFRAP1_ENST00000361298.4_Missense_Mutation_p.R12C|NGFRAP1_ENST00000372635.1_Missense_Mutation_p.R22C|NGFRAP1_ENST00000299872.7_Missense_Mutation_p.R22C|NGFRAP1_ENST00000372634.1_Missense_Mutation_p.R12C			Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16) associated protein 1	22					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						AGAGGAAGACCGCCCTTTGGG	0.498																																						ENST00000361298.4																			0				NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(34-36)Cgc>Tgc		nerve growth factor receptor (TNFRSF16) associated protein 1							159.0	156.0	157.0					X																	102632483		2203	4300	6503	SO:0001583	missense	27018				apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding	g.chrX:102632483C>T	AF187064	CCDS14508.1, CCDS14509.1	Xq22.2	2014-03-21			ENSG00000166681	ENSG00000166681			13388	protein-coding gene	gene with protein product	"""brain expressed, X-linked 3"""	300361				10764727, 16221301, 2171551	Standard	NM_206915		Approved	BEX3, HGR74, Bex, NADE, DXS6984E	uc004ekj.1	Q00994	OTTHUMG00000022099	ENST00000372645.3:c.64C>T	X.37:g.102632483C>T	ENSP00000361728:p.Arg22Cys					NGFRAP1_ENST00000372645.3_Missense_Mutation_p.R22C|NGFRAP1_ENST00000372635.1_Missense_Mutation_p.R22C|NGFRAP1_ENST00000299872.7_Missense_Mutation_p.R22C|NGFRAP1_ENST00000372634.1_Missense_Mutation_p.R12C	p.R12C	NM_206915.1|NM_206917.1	NP_996798.1|NP_996800.1	Q00994	BEX3_HUMAN			3	399	+			22					B2RD17|D3DXA3|Q5JQT4|Q5JQT5	Missense_Mutation	SNP	ENST00000372645.3	37	c.34C>T	CCDS14508.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.272384	0.40194	.	.	ENSG00000166681	ENST00000361298;ENST00000372645;ENST00000372635;ENST00000372634;ENST00000299872	T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78	3.68	3.68	0.42216	.	0.162424	0.29767	N	0.011260	T	0.04907	0.0132	N	0.11000	0.08	0.42515	D	0.992986	D	0.58970	0.984	B	0.37267	0.245	T	0.42865	-0.9426	10	0.46703	T	0.11	-0.3257	9.9539	0.41655	0.0:1.0:0.0:0.0	.	22	Q00994	BEX3_HUMAN	C	12;22;22;12;22	ENSP00000354843:R12C;ENSP00000361728:R22C;ENSP00000361718:R22C;ENSP00000361717:R12C;ENSP00000299872:R22C	ENSP00000299872:R22C	R	+	1	0	NGFRAP1	102519139	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	2.711000	0.47177	2.101000	0.63845	0.529000	0.55759	CGC		0.498	NGFRAP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057709.1	NM_014380		66	251	0	0	0	0.014410	0	66	251				
SEMA6B	10501	broad.mit.edu	37	19	4552537	4552537	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr19:4552537C>T	ENST00000586582.1	-	10	1196	c.886G>A	c.(886-888)Gga>Aga	p.G296R	SEMA6B_ENST00000586965.1_Missense_Mutation_p.G296R|SEMA6B_ENST00000301293.3_Missense_Mutation_p.G296R	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	296	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGAGTCTCCGGGTACAGAG	0.652																																						ENST00000586582.1																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(886-888)Gga>Aga		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B							29.0	26.0	27.0					19																	4552537		2201	4299	6500	SO:0001583	missense	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4552537C>T	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.886G>A	19.37:g.4552537C>T	ENSP00000467290:p.Gly296Arg					SEMA6B_ENST00000301293.3_Missense_Mutation_p.G296R|SEMA6B_ENST00000586965.1_Missense_Mutation_p.G296R	p.G296R	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1196	-		Hepatocellular(1079;0.137)	296			Sema.		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	c.886G>A	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	23.0	4.360711	0.82353	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.28666	1.6	4.24	4.24	0.50183	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	U	0.000000	T	0.67031	0.2850	H	0.95780	3.72	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79047	-0.1963	10	0.87932	D	0	.	15.3936	0.74774	0.0:1.0:0.0:0.0	.	296;296	B4DT36;Q9H3T3	.;SEM6B_HUMAN	R	296	ENSP00000301293:G296R	ENSP00000301292:G296R	G	-	1	0	SEMA6B	4503537	1.000000	0.71417	0.715000	0.30552	0.639000	0.38242	7.481000	0.81124	2.208000	0.71279	0.573000	0.79308	GGA		0.652	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		9	25	0	0	0	0.004482	0	9	25				
ZBTB22	9278	broad.mit.edu	37	6	33282984	33282984	+	Silent	SNP	G	G	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr6:33282984G>A	ENST00000431845.2	-	2	1861	c.1710C>T	c.(1708-1710)ggC>ggT	p.G570G	ZBTB22_ENST00000418724.1_Silent_p.G570G|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	570					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCCCGACCCCGCCCAGGCGGT	0.687																																						ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(1708-1710)ggC>ggT		zinc finger and BTB domain containing 22							25.0	28.0	27.0					6																	33282984		2198	4292	6490	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33282984G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1710C>T	6.37:g.33282984G>A						ZBTB22_ENST00000418724.1_Silent_p.G570G	p.G570G	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	1861	-			570					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	ENST00000431845.2	37	c.1710C>T	CCDS4775.1																																																																																				0.687	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			18	62	0	0	0	0.007413	0	18	62				
USP9X	8239	broad.mit.edu	37	X	41075213	41075213	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chrX:41075213A>C	ENST00000324545.8	+	35	6026	c.5393A>C	c.(5392-5394)aAg>aCg	p.K1798T	USP9X_ENST00000378308.2_Missense_Mutation_p.K1798T	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1798	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATACAACTAAAGCGATTTGAC	0.363																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5392-5394)aAg>aCg		ubiquitin specific peptidase 9, X-linked							78.0	74.0	76.0					X																	41075213		2062	4242	6304	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41075213A>C	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5393A>C	X.37:g.41075213A>C	ENSP00000316357:p.Lys1798Thr					USP9X_ENST00000378308.2_Missense_Mutation_p.K1798T	p.K1798T	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			35	6026	+			1798					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.5393A>C	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.054648	0.75960	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.39229	1.09;1.09	5.67	5.67	0.87782	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.75568	0.3867	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84091	0.0390	10	0.87932	D	0	.	14.9351	0.70948	1.0:0.0:0.0:0.0	.	1798;1798	Q93008-1;Q93008	.;USP9X_HUMAN	T	1798	ENSP00000367558:K1798T;ENSP00000316357:K1798T	ENSP00000316357:K1798T	K	+	2	0	USP9X	40960157	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.906000	0.92626	1.909000	0.55274	0.486000	0.48141	AAG		0.363	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		35	70	0	0	0	0.004289	0	35	70				
MESDC2	23184	broad.mit.edu	37	15	81282072	81282072	+	Silent	SNP	G	G	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr15:81282072G>A	ENST00000261758.4	-	1	147	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	RP11-775C24.3_ENST00000563737.1_lincRNA	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	21	Chaperone domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						agcagcagcagcagcagGTCA	0.682																																						ENST00000261758.4																			0				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						c.(61-63)Ctg>Ttg		mesoderm development candidate 2							25.0	24.0	24.0					15																	81282072		2201	4298	6499	SO:0001819	synonymous_variant	23184				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum		g.chr15:81282072G>A	D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.61C>T	15.37:g.81282072G>A							p.L21L	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN			1	147	-			21			Chaperone domain (By similarity).		B4DW84|D3DW96|Q969U1	Silent	SNP	ENST00000261758.4	37	c.61C>T	CCDS32308.1																																																																																				0.682	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2	NM_015154		4	18	0	0	0	0.009096	0	4	18				
KRT36	8689	broad.mit.edu	37	17	39643690	39643690	+	Silent	SNP	C	C	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr17:39643690C>T	ENST00000328119.6	-	5	899	c.900G>A	c.(898-900)gaG>gaA	p.E300E	KRT36_ENST00000393986.2_Silent_p.E250E	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	300	Coil 2.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				ACTGCAGCTGCTCCGAGCTGG	0.587																																						ENST00000393986.2																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17						c.(748-750)gaG>gaA		keratin 36							71.0	55.0	61.0					17																	39643690		2203	4300	6503	SO:0001819	synonymous_variant	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39643690C>T	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.900G>A	17.37:g.39643690C>T						KRT36_ENST00000328119.6_Silent_p.E300E	p.E250E			O76013	KRT36_HUMAN			6	962	-		Breast(137;0.000286)	300			Linker 12.|Rod.		Q86XG4	Silent	SNP	ENST00000328119.6	37	c.750G>A	CCDS11395.1																																																																																				0.587	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		7	34	0	0	0	0.001984	0	7	34				
LONRF1	91694	broad.mit.edu	37	8	12580704	12580704	+	Silent	SNP	T	T	C			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr8:12580704T>C	ENST00000398246.3	-	12	2292	c.2223A>G	c.(2221-2223)ccA>ccG	p.P741P	LONRF1_ENST00000533751.1_Silent_p.P384P|LONRF1_ENST00000525024.1_Silent_p.P167P	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	741	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GCTGGTATCGTGGGTCTACAG	0.418																																						ENST00000398246.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(2221-2223)ccA>ccG		LON peptidase N-terminal domain and ring finger 1							133.0	138.0	136.0					8																	12580704		1941	4125	6066	SO:0001819	synonymous_variant	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12580704T>C	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.2223A>G	8.37:g.12580704T>C						LONRF1_ENST00000533751.1_Silent_p.P384P|LONRF1_ENST00000525024.1_Silent_p.P167P	p.P741P	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	12	2292	-			741			Lon.		B4DM29|B4DU84|Q8TEA0|Q9BSV1	Silent	SNP	ENST00000398246.3	37	c.2223A>G	CCDS5987.2																																																																																				0.418	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		46	135	0	0	0	0.014410	0	46	135				
ARID3B	10620	broad.mit.edu	37	15	74883967	74883967	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr15:74883967G>A	ENST00000346246.5	+	7	1463	c.1232G>A	c.(1231-1233)aGc>aAc	p.S411N		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	411						nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						ACCTTGGCAAGCCAGCAGGCT	0.617																																						ENST00000346246.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(1231-1233)aGc>aAc		AT rich interactive domain 3B (BRIGHT-like)							15.0	18.0	17.0					15																	74883967		2195	4294	6489	SO:0001583	missense	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74883967G>A		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1232G>A	15.37:g.74883967G>A	ENSP00000343126:p.Ser411Asn						p.S411N	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			7	1463	+			411					O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	ENST00000346246.5	37	c.1232G>A	CCDS10264.1	.	.	.	.	.	.	.	.	.	.	G	6.729	0.503219	0.12822	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	T	0.50001	0.76	5.31	3.38	0.38709	.	0.685163	0.14864	N	0.293890	T	0.36552	0.0971	L	0.40543	1.245	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.23440	-1.0188	10	0.34782	T	0.22	-3.3785	8.115	0.30937	0.2043:0.1193:0.6764:0.0	.	411;411;411	B4DXL8;Q8IVW6;Q8IVW6-4	.;ARI3B_HUMAN;.	N	411	ENSP00000343126:S411N	ENSP00000343126:S411N	S	+	2	0	ARID3B	72671020	0.051000	0.20477	0.386000	0.26170	0.231000	0.25187	1.484000	0.35508	0.228000	0.21019	-0.797000	0.03246	AGC		0.617	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		8	7	0	0	0	0.004482	0	8	7				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	65	0	0	0	0.003954	0	25	65				
DNM1P47	100216544	broad.mit.edu	37	15	102292767	102292767	+	RNA	SNP	C	C	T	rs113047734		TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr15:102292767C>T	ENST00000561463.1	+	0	813									DNM1 pseudogene 47																		CACAGCGGCGCGACGAGATGC	0.597																																						ENST00000561463.1																			0																																																			0							g.chr15:102292767C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292767C>T														0	813	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	32	0	0	0	0.006214	0	5	32				
SENP5	205564	broad.mit.edu	37	3	196612456	196612456	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr3:196612456A>G	ENST00000323460.5	+	2	653	c.404A>G	c.(403-405)aAt>aGt	p.N135S	SENP5_ENST00000445299.2_Missense_Mutation_p.N135S|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	135					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AGAGAGAAAAATCTCTTGAAG	0.443																																					Ovarian(47;891 1095 11174 13858 51271)	ENST00000323460.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32						c.(403-405)aAt>aGt		SUMO1/sentrin specific peptidase 5							51.0	51.0	51.0					3																	196612456		2203	4300	6503	SO:0001583	missense	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196612456A>G	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.404A>G	3.37:g.196612456A>G	ENSP00000327197:p.Asn135Ser					SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.N135S	p.N135S	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	2	653	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		135					B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	c.404A>G	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	A	0.021	-1.421382	0.01126	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.20598	2.37;2.06	5.03	0.167	0.15006	.	0.562739	0.18465	N	0.140404	T	0.05502	0.0145	N	0.01874	-0.695	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42949	-0.9421	10	0.02654	T	1	-2.2224	7.8168	0.29265	0.5783:0.0:0.4217:0.0	.	135;135	B4DY82;Q96HI0	.;SENP5_HUMAN	S	135	ENSP00000327197:N135S;ENSP00000390231:N135S	ENSP00000327197:N135S	N	+	2	0	SENP5	198096853	0.746000	0.28272	0.954000	0.39281	0.857000	0.48899	1.021000	0.30040	0.085000	0.17107	-0.242000	0.12053	AAT		0.443	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		21	58	0	0	0	0.002780	0	21	58				
ALDH1B1	219	broad.mit.edu	37	9	38396762	38396762	+	Silent	SNP	C	C	T			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr9:38396762C>T	ENST00000377698.3	+	2	1170	c.1017C>T	c.(1015-1017)acC>acT	p.T339T		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	339					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		TCGAGAGAACCGTGGAGAAAG	0.557																																						ENST00000377698.3																			0				NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32						c.(1015-1017)acC>acT		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)						49.0	55.0	53.0					9																	38396762		2203	4300	6503	SO:0001819	synonymous_variant	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396762C>T	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.1017C>T	9.37:g.38396762C>T							p.T339T	NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	1170	+			339					B2R8F0|Q8WX76|Q9BV45	Silent	SNP	ENST00000377698.3	37	c.1017C>T	CCDS6615.1																																																																																				0.557	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			26	42	0	0	0	0.005443	0	26	42				
ZNHIT6	54680	broad.mit.edu	37	1	86171801	86171801	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3H5-01A-11D-A202-08	TCGA-EL-A3H5-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20eacd64-1c18-4928-bcb8-928e274504c8	56cb03e6-10a4-4498-9ef4-ec579fe18ace	g.chr1:86171801delG	ENST00000370574.3	-	4	1008	c.875delC	c.(874-876)tctfs	p.S292fs	ZNHIT6_ENST00000431532.2_Frame_Shift_Del_p.S253fs			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	292					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						AGCATCTCTAGAAATATGGTC	0.313																																						ENST00000431532.2																			0				autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						c.(757-759)ttfs		zinc finger, HIT-type containing 6							58.0	58.0	58.0					1																	86171801		2199	4298	6497	SO:0001589	frameshift_variant	54680				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	g.chr1:86171801delG	AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.875delC	1.37:g.86171801delG	ENSP00000359606:p.Ser292fs					ZNHIT6_ENST00000370574.3_Frame_Shift_Del_p.S292fs	p.S253fs	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN			5	906	-			292					B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Frame_Shift_Del	DEL	ENST00000370574.3	37	c.758delC	CCDS707.1																																																																																				0.313	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953		23	37						23	37	---	---	---	---
