#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
MAP3K19	80122	broad.mit.edu	37	2	135744393	135744393	+	Silent	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:135744393C>T	ENST00000375845.3	-	7	2079	c.2049G>A	c.(2047-2049)acG>acA	p.T683T	MAP3K19_ENST00000392915.1_Silent_p.T700T|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.T570T	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	683							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CACGGTAATACGTGTTTTCAT	0.413																																						ENST00000375845.3																			0											c.(2047-2049)acG>acA		mitogen-activated protein kinase kinase kinase 19							190.0	174.0	179.0					2																	135744393		2203	4300	6503	SO:0001819	synonymous_variant	80122							g.chr2:135744393C>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2049G>A	2.37:g.135744393C>T						MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.T700T|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.T570T|MAP3K19_ENST00000315513.3_5'UTR	p.T683T	NM_025052.3	NP_079328.3					7	2079	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	ENST00000375845.3	37	c.2049G>A	CCDS2176.2																																																																																				0.413	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		22	192	0	0	0	1	0	22	192				
ZNF93	81931	broad.mit.edu	37	19	20044958	20044958	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr19:20044958A>T	ENST00000343769.5	+	4	1222	c.1194A>T	c.(1192-1194)aaA>aaT	p.K398N	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AGCCCTACAAATGTGAAGAAT	0.403																																						ENST00000343769.5																			0				endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						c.(1192-1194)aaA>aaT		zinc finger protein 93							63.0	65.0	64.0					19																	20044958		2203	4300	6503	SO:0001583	missense	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20044958A>T	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1194A>T	19.37:g.20044958A>T	ENSP00000342002:p.Lys398Asn					AC007204.2_ENST00000592245.1_lincRNA	p.K398N	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN			4	1222	+			398					A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	c.1194A>T	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	a	14.31	2.496920	0.44352	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.08546	3.08	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18299	0.0439	L	0.58925	1.835	0.25534	N	0.987249	D	0.89917	1.0	D	0.80764	0.994	T	0.12116	-1.0560	9	0.59425	D	0.04	.	2.9159	0.05752	0.6536:0.0:0.3464:0.0	.	398	P35789	ZNF93_HUMAN	N	398	ENSP00000342002:K398N	ENSP00000342002:K398N	K	+	3	2	ZNF93	19905958	0.000000	0.05858	0.713000	0.30519	0.713000	0.41058	-4.253000	0.00265	0.166000	0.19597	0.164000	0.16699	AAA		0.403	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		14	81	0	0	0	1	0	14	81				
ZNF569	148266	broad.mit.edu	37	19	37903577	37903577	+	Silent	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr19:37903577G>A	ENST00000316950.6	-	6	2540	c.1983C>T	c.(1981-1983)ccC>ccT	p.P661P	ZNF569_ENST00000392149.2_Silent_p.P661P|ZNF569_ENST00000392150.2_Silent_p.P502P	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	661					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(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACAGTGATAGGGCTTCTCAC	0.403																																						ENST00000316950.6																			0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1981-1983)ccC>ccT		zinc finger protein 569							123.0	125.0	124.0					19																	37903577		2203	4300	6503	SO:0001819	synonymous_variant	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37903577G>A	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1983C>T	19.37:g.37903577G>A						ZNF569_ENST00000392149.2_Silent_p.P661P|ZNF569_ENST00000392150.2_Silent_p.P502P	p.P661P	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	2540	-			661					A8K1S2|Q15925|Q17RR6|Q96MQ2	Silent	SNP	ENST00000316950.6	37	c.1983C>T	CCDS12503.1																																																																																				0.403	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		11	155	0	0	0	1	0	11	155				
FAM35A	54537	broad.mit.edu	37	10	88930360	88930360	+	Silent	SNP	T	T	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr10:88930360T>C	ENST00000298784.1	+	5	1873	c.1759T>C	c.(1759-1761)Ttg>Ctg	p.L587L	FAM35A_ENST00000298786.4_Silent_p.L587L	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	587										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						CTTTGTAGAATTGGAGCACCT	0.413																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298786.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.(1759-1761)Ttg>Ctg		family with sequence similarity 35, member A							91.0	89.0	90.0					10																	88930360		2203	4300	6503	SO:0001819	synonymous_variant	54537							g.chr10:88930360T>C	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.1759T>C	10.37:g.88930360T>C						FAM35A_ENST00000298784.1_Silent_p.L587L	p.L587L			Q86V20	FA35A_HUMAN			5	1873	+			587					O95885|Q9H991	Silent	SNP	ENST00000298784.1	37	c.1759T>C	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	t	1.769	-0.484909	0.04352	.	.	ENSG00000122376	ENST00000342900	.	.	.	4.35	-7.01	0.01594	.	.	.	.	.	T	0.42404	0.1201	.	.	.	0.26543	N	0.974043	.	.	.	.	.	.	T	0.42649	-0.9439	4	.	.	.	-7.7353	16.3542	0.83228	0.0:0.6911:0.0:0.3089	.	.	.	.	T	241	.	.	I	+	2	0	FAM35A	88920340	0.000000	0.05858	0.016000	0.15963	0.423000	0.31445	-0.775000	0.04679	-1.486000	0.01851	-0.323000	0.08544	ATT		0.413	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		30	91	0	0	0	1	0	30	91				
TPH2	121278	broad.mit.edu	37	12	72335422	72335422	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:72335422G>T	ENST00000333850.3	+	2	305	c.164G>T	c.(163-165)cGt>cTt	p.R55L	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	55			R -> C (the property of the variant is indistinguishable from the wild-type; dbSNP:rs75558144).		aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AGCAGCAAACGTGAAGCTGCT	0.408																																						ENST00000333850.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.(163-165)cGt>cTt		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						104.0	100.0	101.0					12																	72335422		2203	4300	6503	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72335422G>T	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.164G>T	12.37:g.72335422G>T	ENSP00000329093:p.Arg55Leu					TPH2_ENST00000546576.1_3'UTR	p.R55L	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			2	305	+			55		R -> C (the property of the variant is indistinguishable from the wild-type).			A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.164G>T	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	G	3.623	-0.077198	0.07184	.	.	ENSG00000139287	ENST00000333850;ENST00000266669	D	0.98264	-4.83	5.82	0.192	0.15134	.	0.870180	0.10519	N	0.665163	D	0.92358	0.7575	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.85943	0.1459	10	0.40728	T	0.16	-0.8457	4.5253	0.11978	0.2269:0.182:0.4984:0.0926	.	55	Q8IWU9	TPH2_HUMAN	L	55	ENSP00000329093:R55L	ENSP00000266669:R55L	R	+	2	0	TPH2	70621689	0.053000	0.20554	0.003000	0.11579	0.001000	0.01503	0.723000	0.25939	-0.086000	0.12550	-1.869000	0.00555	CGT		0.408	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		14	89	1	0	3.27435e-08	1	3.58409e-08	14	89				
CATSPERD	257062	broad.mit.edu	37	19	5749195	5749195	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr19:5749195G>A	ENST00000381624.3	+	11	1048		c.e11+1		CATSPERD_ENST00000381614.2_Splice_Site	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta						multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											CATAATCAAAGTAGGTAAAAA	0.478																																						ENST00000381624.3																			0											c.e11+1		catsper channel auxiliary subunit delta							70.0	71.0	71.0					19																	5749195		1885	4121	6006	SO:0001630	splice_region_variant	257062					integral to membrane		g.chr19:5749195G>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.987+1G>A	19.37:g.5749195G>A						CATSPERD_ENST00000381614.2_Splice_Site		NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			11	1048	+								Q6ZRP1	Splice_Site	SNP	ENST00000381624.3	37		CCDS12149.2	.	.	.	.	.	.	.	.	.	.	g	14.04	2.415509	0.42817	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2752	0.43506	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM146	5700195	1.000000	0.71417	0.969000	0.41365	0.252000	0.25951	3.103000	0.50298	2.141000	0.66446	0.447000	0.29281	.		0.478	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784	Intron	6	47	0	0	0	1	0	6	47				
MST1L	11223	broad.mit.edu	37	1	17084287	17084287	+	RNA	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:17084287C>T	ENST00000455405.2	-	0	521							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										ACACTTGGTCCCTGGAGGCAC	0.582																																						ENST00000455405.2																			0																																																			11223							g.chr1:17084287C>T	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084287C>T														0	521	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	8.586	0.883547	0.17467	.	.	ENSG00000186715	ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.784044	0.10938	N	0.617547	T	0.38665	0.1049	.	.	.	.	.	.	B;P	0.36587	0.218;0.559	B;B	0.40782	0.098;0.34	T	0.45934	-0.9227	5	0.33141	T	0.24	.	.	.	.	.	577;603	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	E	577;603	.	ENSP00000439273:G577E	G	-	2	0	MST1P9	16956874	0.001000	0.12720	0.642000	0.29436	0.000000	0.00434	0.244000	0.18124	0.502000	0.28037	0.000000	0.15137	GGG		0.582	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		9	546	0	0	0	1	0	9	546				
SNAPC3	6619	broad.mit.edu	37	9	15447132	15447132	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr9:15447132G>T	ENST00000380821.3	+	5	798	c.622G>T	c.(622-624)Ggc>Tgc	p.G208C	SNAPC3_ENST00000380799.1_Missense_Mutation_p.G5C	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	208					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		GCTGGTGTTGGGCAGTCAAAA	0.413																																						ENST00000380821.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12						c.(622-624)Ggc>Tgc		small nuclear RNA activating complex, polypeptide 3, 50kDa							225.0	217.0	219.0					9																	15447132		2203	4300	6503	SO:0001583	missense	6619				regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding	g.chr9:15447132G>T	U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"""small nuclear RNA activating complex, polypeptide 3, 50kD"""			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.622G>T	9.37:g.15447132G>T	ENSP00000370200:p.Gly208Cys					SNAPC3_ENST00000380799.1_Missense_Mutation_p.G5C	p.G208C	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN		GBM - Glioblastoma multiforme(50;2.15e-06)	5	798	+			208					D3DRI8|Q2VPI6|Q5T285	Missense_Mutation	SNP	ENST00000380821.3	37	c.622G>T	CCDS6478.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819378	0.90873	.	.	ENSG00000164975	ENST00000380821;ENST00000447670;ENST00000380799	T;T	0.52295	0.67;0.67	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.74450	0.3718	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76613	-0.2895	10	0.72032	D	0.01	-47.6632	20.0881	0.97803	0.0:0.0:1.0:0.0	.	179;208	B4DDR9;Q92966	.;SNPC3_HUMAN	C	208;179;5	ENSP00000370200:G208C;ENSP00000370177:G5C	ENSP00000370177:G5C	G	+	1	0	SNAPC3	15437132	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.187000	0.94912	2.840000	0.97914	0.655000	0.94253	GGC		0.413	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	NM_001039697		26	372	1	0	3.28513e-13	1	3.7744e-13	26	372				
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G	rs575896136	byFrequency	TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000465038.2_Silent_p.Q65Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0.0	5008	,	,		7675	0.002		0.0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10.0	15.0	14.0					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	57	0	0	0	1	0	3	57				
CLCNKB	1188	broad.mit.edu	37	1	16378296	16378296	+	Silent	SNP	A	A	C	rs199755248		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:16378296A>C	ENST00000375679.4	+	14	1500	c.1389A>C	c.(1387-1389)ccA>ccC	p.P463P	CLCNKB_ENST00000375667.3_Silent_p.P294P	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	463					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCATGCCAGGGGGGTATG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18264	0.001		0.0	False		,,,				2504	0.0					ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21	GRCh37	CD004305	CLCNKB	D		c.(1387-1389)ccA>ccC		chloride channel, voltage-sensitive Kb							66.0	66.0	66.0					1																	16378296		2203	4300	6503	SO:0001819	synonymous_variant	1188							g.chr1:16378296A>C	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1389A>C	1.37:g.16378296A>C						CLCNKB_ENST00000375667.3_Silent_p.P294P	p.P463P	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	14	1500	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.1389A>C	CCDS168.1																																																																																				0.622	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		4	137	0	0	0	1	0	4	137				
APOB	338	broad.mit.edu	37	2	21225795	21225795	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:21225795G>A	ENST00000233242.1	-	29	12626	c.12499C>T	c.(12499-12501)Ctc>Ttc	p.L4167F	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4167					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTATCCTTGAGTCCCTGGAAA	0.478																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(12499-12501)Ctc>Ttc		apolipoprotein B	Atorvastatin(DB01076)						95.0	91.0	92.0					2																	21225795		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21225795G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12499C>T	2.37:g.21225795G>A	ENSP00000233242:p.Leu4167Phe						p.L4167F	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			29	12626	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4167					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.12499C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	9.835	1.189346	0.21954	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01059	5.39	5.9	-1.52	0.08637	.	0.670897	0.13653	N	0.372153	T	0.00815	0.0027	N	0.16368	0.405	0.09310	N	0.999992	B	0.06786	0.001	B	0.06405	0.002	T	0.44832	-0.9302	10	0.36615	T	0.2	.	5.5922	0.17307	0.4976:0.0:0.2279:0.2746	.	4167	P04114	APOB_HUMAN	F	4167	ENSP00000233242:L4167F	ENSP00000233242:L4167F	L	-	1	0	APOB	21079300	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	-0.180000	0.09754	-0.368000	0.08040	-0.216000	0.12614	CTC		0.478	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			11	121	0	0	0	1	0	11	121				
FAM134A	79137	broad.mit.edu	37	2	220045437	220045437	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:220045437G>T	ENST00000430297.2	+	5	737	c.601G>T	c.(601-603)Gga>Tga	p.G201*	CNPPD1_ENST00000409789.1_5'Flank	NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	201						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTGTGTTGGGACACTATGT	0.498																																						ENST00000430297.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19						c.(601-603)Gga>Tga		family with sequence similarity 134, member A							484.0	383.0	417.0					2																	220045437		2203	4300	6503	SO:0001587	stop_gained	79137					endoplasmic reticulum|integral to membrane		g.chr2:220045437G>T	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.601G>T	2.37:g.220045437G>T	ENSP00000395249:p.Gly201*						p.G201*	NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	737	+		Renal(207;0.0915)	201					Q6P1P5|Q9H0K7	Nonsense_Mutation	SNP	ENST00000430297.2	37	c.601G>T	CCDS2434.1	.	.	.	.	.	.	.	.	.	.	G	37	6.598839	0.97692	.	.	ENSG00000144567	ENST00000430297	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.7434	18.1224	0.89576	0.0:0.0:1.0:0.0	.	.	.	.	X	201	.	ENSP00000395249:G201X	G	+	1	0	FAM134A	219753681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.929000	0.92859	2.481000	0.83766	0.655000	0.94253	GGA		0.498	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		32	213	1	0	2.20474e-14	1	2.56955e-14	32	213				
ACSBG1	23205	broad.mit.edu	37	15	78471001	78471001	+	Missense_Mutation	SNP	G	G	A	rs370057969		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr15:78471001G>A	ENST00000258873.4	-	11	1862	c.1657C>T	c.(1657-1659)Cgc>Tgc	p.R553C	ACSBG1_ENST00000560817.1_Missense_Mutation_p.R311C|ACSBG1_ENST00000541759.1_Missense_Mutation_p.R311C	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	553					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GCGTCCAGGCGGCCAGCATCA	0.617																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(1657-1659)Cgc>Tgc		acyl-CoA synthetase bubblegum family member 1		G	CYS/ARG,CYS/ARG	0,4392		0,0,2196	87.0	59.0	69.0		1645,1657	2.3	0.6	15		69	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense	ACSBG1	NM_001199377.1,NM_015162.4	180,180	0,1,6488	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	549/721,553/725	78471001	1,12977	2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78471001G>A	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1657C>T	15.37:g.78471001G>A	ENSP00000258873:p.Arg553Cys					ACSBG1_ENST00000541759.1_Missense_Mutation_p.R311C|ACSBG1_ENST00000560817.1_Missense_Mutation_p.R311C	p.R553C	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			11	1862	-			553					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.1657C>T	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507411	0.44558	0.0	1.16E-4	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.51071	0.72;0.72	5.48	2.33	0.28932	AMP-dependent synthetase/ligase (1);	0.302334	0.29459	N	0.012088	T	0.57110	0.2031	M	0.67700	2.07	0.34742	D	0.730833	D;D	0.76494	0.999;0.998	D;P	0.64877	0.93;0.892	T	0.64668	-0.6353	10	0.59425	D	0.04	-16.8715	4.4735	0.11724	0.1935:0.0:0.4644:0.3421	.	549;553	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	C	553;311	ENSP00000258873:R553C;ENSP00000439955:R311C	ENSP00000258873:R553C	R	-	1	0	ACSBG1	76258056	1.000000	0.71417	0.588000	0.28705	0.051000	0.14879	5.541000	0.67212	0.691000	0.31592	0.655000	0.94253	CGC		0.617	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		8	20	0	0	0	1	0	8	20				
OLFML2B	25903	broad.mit.edu	37	1	161993074	161993074	+	Silent	SNP	C	C	T	rs530081987		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:161993074C>T	ENST00000294794.3	-	1	570	c.147G>A	c.(145-147)gcG>gcA	p.A49A	OLFML2B_ENST00000367940.2_Silent_p.A49A	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	49					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CCTGGTTGTCCGCCTCGTTTT	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		17570	0.001		0.0	False		,,,				2504	0.0					ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(145-147)gcG>gcA		olfactomedin-like 2B							166.0	138.0	147.0					1																	161993074		2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161993074C>T	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.147G>A	1.37:g.161993074C>T						OLFML2B_ENST00000367940.2_Silent_p.A49A	p.A49A	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		1	570	-	all_hematologic(112;0.156)		49					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.147G>A	CCDS1236.1																																																																																				0.602	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		4	130	0	0	0	1	0	4	130				
HTT	3064	broad.mit.edu	37	4	3182292	3182292	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr4:3182292A>G	ENST00000355072.5	+	36	4808	c.4663A>G	c.(4663-4665)Aca>Gca	p.T1555A		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1555					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ATTAAGAGGAACAAATAAAGC	0.443																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(4663-4665)Aca>Gca		huntingtin							109.0	109.0	109.0					4																	3182292		1901	4104	6005	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3182292A>G	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.4663A>G	4.37:g.3182292A>G	ENSP00000347184:p.Thr1555Ala						p.T1555A	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	36	4808	+		all_epithelial(65;0.18)	1555					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.4663A>G	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	A	12.22	1.871832	0.33069	.	.	ENSG00000197386	ENST00000355072	T	0.04654	3.58	6.07	-0.504	0.11997	.	0.117441	0.64402	N	0.000013	T	0.03263	0.0095	N	0.22421	0.69	0.27703	N	0.945711	B	0.02656	0.0	B	0.04013	0.001	T	0.42949	-0.9421	10	0.19147	T	0.46	.	11.7572	0.51882	0.5474:0.0:0.4526:0.0	.	1555	P42858	HD_HUMAN	A	1555	ENSP00000347184:T1555A	ENSP00000347184:T1555A	T	+	1	0	HTT	3152090	0.540000	0.26410	0.711000	0.30485	0.899000	0.52679	0.748000	0.26305	-0.268000	0.09312	-0.993000	0.02533	ACA		0.443	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		23	111	0	0	0	1	0	23	111				
CHMP2B	25978	broad.mit.edu	37	3	87302902	87302902	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:87302902C>T	ENST00000263780.4	+	6	810	c.572C>T	c.(571-573)gCc>gTc	p.A191V	CHMP2B_ENST00000494980.1_Missense_Mutation_p.A161V|CHMP2B_ENST00000471660.1_Missense_Mutation_p.A150V	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	191					cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TTACCATCTGCCTCTACTTCA	0.388																																						ENST00000263780.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12						c.(571-573)gCc>gTc		charged multivesicular body protein 2B							107.0	104.0	105.0					3																	87302902		2203	4300	6503	SO:0001583	missense	25978				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding	g.chr3:87302902C>T	BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"""Charged multivesicular body proteins"""	24537	protein-coding gene	gene with protein product	"""VPS2 homolog B (S. cerevisiae)"""	609512	"""chromatin modifying protein 2B"""			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.572C>T	3.37:g.87302902C>T	ENSP00000263780:p.Ala191Val					CHMP2B_ENST00000494980.1_Missense_Mutation_p.A161V|CHMP2B_ENST00000471660.1_Missense_Mutation_p.A150V	p.A191V	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	6	810	+	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	191					B4DJG8|Q53HC7|Q9Y4U6	Missense_Mutation	SNP	ENST00000263780.4	37	c.572C>T	CCDS2918.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460858	0.43736	.	.	ENSG00000083937	ENST00000471660;ENST00000263780;ENST00000494980	D;D;D	0.90133	-2.27;-2.58;-2.62	5.85	5.85	0.93711	.	0.046027	0.85682	D	0.000000	D	0.89171	0.6639	L	0.54323	1.7	0.52501	D	0.999957	B;B	0.20052	0.004;0.041	B;B	0.16289	0.001;0.015	D	0.83885	0.0281	10	0.32370	T	0.25	-18.445	20.1559	0.98114	0.0:1.0:0.0:0.0	.	150;191	B4DJG8;Q9UQN3	.;CHM2B_HUMAN	V	150;191;161	ENSP00000419998:A150V;ENSP00000263780:A191V;ENSP00000418920:A161V	ENSP00000263780:A191V	A	+	2	0	CHMP2B	87385592	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.930000	0.75858	2.770000	0.95276	0.650000	0.86243	GCC		0.388	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352779.2	NM_014043		9	48	0	0	0	1	0	9	48				
NCF2	4688	broad.mit.edu	37	1	183529314	183529314	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:183529314A>G	ENST00000367535.3	-	14	1636	c.1385T>C	c.(1384-1386)gTg>gCg	p.V462A	NCF2_ENST00000367536.1_Missense_Mutation_p.V462A|NCF2_ENST00000469280.1_5'Flank|NCF2_ENST00000413720.1_Missense_Mutation_p.V417A|NCF2_ENST00000418089.1_Missense_Mutation_p.V381A	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	462	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	GAGTGCCTCCACTTGGCTGCC	0.468																																						ENST00000413720.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(1249-1251)gTg>gCg		neutrophil cytosolic factor 2							226.0	208.0	214.0					1																	183529314		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183529314A>G	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1385T>C	1.37:g.183529314A>G	ENSP00000356505:p.Val462Ala					NCF2_ENST00000367536.1_Missense_Mutation_p.V462A|NCF2_ENST00000367535.3_Missense_Mutation_p.V462A|NCF2_ENST00000418089.1_Missense_Mutation_p.V381A	p.V417A	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN			13	1524	-			462			OPR.		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.1250T>C	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.779978	0.70222	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.18	5.18	0.71444	Src homology-3 domain (4);	0.440540	0.24645	N	0.036771	T	0.44371	0.1290	L	0.31926	0.97	0.46725	D	0.999171	D;D;P	0.76494	0.999;0.998;0.605	D;D;P	0.78314	0.991;0.984;0.539	T	0.41592	-0.9500	10	0.72032	D	0.01	-8.4464	13.61	0.62071	1.0:0.0:0.0:0.0	.	381;417;462	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	A	462;534;417;381;462	ENSP00000356506:V462A;ENSP00000399294:V417A;ENSP00000407217:V381A;ENSP00000356505:V462A	ENSP00000356505:V462A	V	-	2	0	NCF2	181795937	0.998000	0.40836	1.000000	0.80357	0.555000	0.35460	5.918000	0.69996	1.955000	0.56771	0.533000	0.62120	GTG		0.468	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		38	184	0	0	0	1	0	38	184				
OR4C6	219432	broad.mit.edu	37	11	55433356	55433356	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:55433356C>A	ENST00000314259.3	+	1	743	c.714C>A	c.(712-714)tgC>tgA	p.C238*		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCTCTACCTGCAGCTCCCACC	0.502																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(712-714)tgC>tgA		olfactory receptor, family 4, subfamily C, member 6							128.0	125.0	126.0					11																	55433356		2200	4296	6496	SO:0001587	stop_gained	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433356C>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.714C>A	11.37:g.55433356C>A	ENSP00000324769:p.Cys238*						p.C238*	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	743	+			238					B2RP11|Q6IFD2	Nonsense_Mutation	SNP	ENST00000314259.3	37	c.714C>A	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	3.108	-0.183248	0.06340	.	.	ENSG00000181903	ENST00000314259	.	.	.	4.07	-3.22	0.05125	.	0.000000	0.41823	D	0.000801	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8803	0.46935	0.0:0.491:0.0:0.509	.	.	.	.	X	238	.	ENSP00000324769:C238X	C	+	3	2	OR4C6	55189932	0.000000	0.05858	0.100000	0.21137	0.018000	0.09664	-0.876000	0.04201	-0.640000	0.05495	-1.534000	0.00916	TGC		0.502	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		22	155	1	0	2.70639e-06	1	2.86559e-06	22	155				
OR5D16	390144	broad.mit.edu	37	11	55606535	55606535	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:55606535T>G	ENST00000378396.1	+	1	308	c.308T>G	c.(307-309)tTc>tGc	p.F103C		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTGGTGCAATTCTTTTTCTTT	0.413																																						ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(307-309)tTc>tGc		olfactory receptor, family 5, subfamily D, member 16							160.0	158.0	159.0					11																	55606535		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606535T>G	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.308T>G	11.37:g.55606535T>G	ENSP00000367649:p.Phe103Cys						p.F103C	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	308	+		all_epithelial(135;0.208)	103					Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.308T>G	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	11.31	1.601738	0.28534	.	.	ENSG00000205029	ENST00000378396	T	0.00470	7.2	4.47	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00580	0.0019	L	0.61387	1.9	0.09310	N	1	P	0.36065	0.535	B	0.41894	0.369	T	0.44003	-0.9356	9	0.46703	T	0.11	-18.9371	8.4915	0.33104	0.3081:0.0:0.0:0.6919	.	103	Q8NGK9	OR5DG_HUMAN	C	103	ENSP00000367649:F103C	ENSP00000367649:F103C	F	+	2	0	OR5D16	55363111	0.002000	0.14202	0.002000	0.10522	0.991000	0.79684	1.352000	0.34033	0.671000	0.31185	0.433000	0.28618	TTC		0.413	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		45	206	0	0	0	1	0	45	206				
ZNF80	7634	broad.mit.edu	37	3	113955277	113955277	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:113955277C>A	ENST00000482457.2	-	1	1148	c.645G>T	c.(643-645)aaG>aaT	p.K215N	RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				ACTCGTAGGGCTTTCCTGCAG	0.493																																					GBM(23;986 1114 21716)	ENST00000482457.2																			0				NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32						c.(643-645)aaG>aaT		zinc finger protein 80							111.0	115.0	113.0					3																	113955277		2203	4300	6503	SO:0001583	missense	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955277C>A	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.645G>T	3.37:g.113955277C>A	ENSP00000417192:p.Lys215Asn						p.K215N	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN			1	1148	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	215					Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	c.645G>T	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705833	0.48412	.	.	ENSG00000174255	ENST00000482457	T	0.26067	1.76	3.09	0.145	0.14829	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43389	0.1245	M	0.76170	2.325	0.24444	N	0.994517	D	0.89917	1.0	D	0.87578	0.998	T	0.23511	-1.0186	9	0.87932	D	0	.	3.3509	0.07151	0.0:0.4303:0.2049:0.3649	.	215	P51504	ZNF80_HUMAN	N	215	ENSP00000417192:K215N	ENSP00000309812:K215N	K	-	3	2	ZNF80	115437967	0.000000	0.05858	0.003000	0.11579	0.050000	0.14768	-0.422000	0.07043	0.010000	0.14839	0.561000	0.74099	AAG		0.493	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		14	134	1	0	6.31663e-08	1	6.82196e-08	14	134				
TIMD4	91937	broad.mit.edu	37	5	156390192	156390192	+	Silent	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr5:156390192G>A	ENST00000274532.2	-	1	74	c.18C>T	c.(16-18)ctC>ctT	p.L6L	TIMD4_ENST00000407087.3_Silent_p.L6L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	6						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCAGAGAATGAGAGGTTCTT	0.453																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(16-18)ctC>ctT		T-cell immunoglobulin and mucin domain containing 4							130.0	123.0	125.0					5																	156390192		2203	4300	6503	SO:0001819	synonymous_variant	91937					integral to membrane		g.chr5:156390192G>A	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.18C>T	5.37:g.156390192G>A						TIMD4_ENST00000407087.3_Silent_p.L6L	p.L6L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	74	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	6					B5MCL9	Silent	SNP	ENST00000274532.2	37	c.18C>T	CCDS4332.1																																																																																				0.453	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		17	98	0	0	0	1	0	17	98				
TSPYL2	64061	broad.mit.edu	37	X	53114820	53114820	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chrX:53114820A>T	ENST00000375442.4	+	6	1378	c.1246A>T	c.(1246-1248)Agg>Tgg	p.R416W		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	416					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						CAGTAAAACCAGGGGCAGATG	0.488																																						ENST00000375442.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						c.(1246-1248)Agg>Tgg		TSPY-like 2							68.0	57.0	60.0					X																	53114820		2203	4300	6503	SO:0001583	missense	64061				cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding	g.chrX:53114820A>T	AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.1246A>T	X.37:g.53114820A>T	ENSP00000364591:p.Arg416Trp						p.R416W	NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN			6	1378	+			416					O94799|Q96DG7|Q9BZW6	Missense_Mutation	SNP	ENST00000375442.4	37	c.1246A>T	CCDS14350.1	.	.	.	.	.	.	.	.	.	.	A	9.501	1.103179	0.20632	.	.	ENSG00000184205	ENST00000375442	T	0.25414	1.8	2.91	2.91	0.33838	.	0.691012	0.11856	N	0.522891	T	0.19927	0.0479	N	0.19112	0.55	0.09310	N	1	P;P	0.50369	0.844;0.934	P;P	0.46885	0.509;0.53	T	0.07635	-1.0762	10	0.87932	D	0	-9.6902	6.7536	0.23501	1.0:0.0:0.0:0.0	.	56;416	Q59GC7;Q9H2G4	.;TSYL2_HUMAN	W	416	ENSP00000364591:R416W	ENSP00000364591:R416W	R	+	1	2	TSPYL2	53131545	0.924000	0.31332	0.002000	0.10522	0.230000	0.25150	2.229000	0.42990	1.396000	0.46663	0.231000	0.17811	AGG		0.488	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117		18	39	0	0	0	1	0	18	39				
CDH23	64072	broad.mit.edu	37	10	73453969	73453969	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr10:73453969G>T	ENST00000224721.6	+	20	2262	c.2257G>T	c.(2257-2259)Gca>Tca	p.A753S	CDH23_ENST00000299366.7_Missense_Mutation_p.A793S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	748	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CATCGTTCGCGCAGTGGACGG	0.627																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(2257-2259)Gca>Tca		cadherin-related 23							66.0	82.0	77.0					10																	73453969		2081	4202	6283	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73453969G>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2257G>T	10.37:g.73453969G>T	ENSP00000224721:p.Ala753Ser					CDH23_ENST00000299366.7_Missense_Mutation_p.A793S	p.A753S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			20	2262	+			748			Cadherin 7.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.2257G>T		.	.	.	.	.	.	.	.	.	.	G	25.1	4.606257	0.87157	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.55	5.55	0.83447	Cadherin (4);Cadherin-like (1);	0.068139	0.56097	D	0.000021	D	0.86797	0.6019	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.87578	0.991;0.998;0.945	D	0.89392	0.3689	9	0.72032	D	0.01	.	19.5163	0.95167	0.0:0.0:1.0:0.0	.	748;751;748	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	S	753;748;748;751;751;265	.	ENSP00000224721:A753S	A	+	1	0	CDH23	73123975	1.000000	0.71417	0.388000	0.26195	0.281000	0.26958	9.827000	0.99397	2.621000	0.88768	0.643000	0.83706	GCA		0.627	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		8	28	1	0	7.48243e-07	1	7.97469e-07	8	28				
KRTAP4-11	653240	broad.mit.edu	37	17	39274424	39274424	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:39274424G>C	ENST00000391413.2	-	1	182	c.144C>G	c.(142-144)agC>agG	p.S48R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	48	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.S48R(2)		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)			GCCTGCAGCAGCTGGACACAC	0.672																																						ENST00000391413.2																			2	Substitution - Missense(2)	p.S48R(2)	lung(1)|endometrium(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(142-144)agC>agG		keratin associated protein 4-11							11.0	16.0	14.0					17																	39274424		687	1589	2276	SO:0001583	missense	653240					keratin filament		g.chr17:39274424G>C	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.144C>G	17.37:g.39274424G>C	ENSP00000375232:p.Ser48Arg						p.S48R	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	182	-		Breast(137;0.000496)	48		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.144C>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	13.52	2.262143	0.39995	.	.	ENSG00000212721	ENST00000391413	T	0.01963	4.53	3.91	3.91	0.45181	.	0.663392	0.11138	N	0.595595	T	0.06826	0.0174	M	0.91717	3.235	0.27842	N	0.941075	B	0.21606	0.058	B	0.25614	0.062	T	0.08310	-1.0728	10	0.66056	D	0.02	.	7.305	0.26443	0.1194:0.0:0.8806:0.0	.	48	Q9BYQ6	KR411_HUMAN	R	48	ENSP00000375232:S48R	ENSP00000375232:S48R	S	-	3	2	KRTAP4-11	36527950	0.739000	0.28196	0.990000	0.47175	0.119000	0.20118	0.787000	0.26858	2.015000	0.59207	0.609000	0.83330	AGC		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			6	111	0	0	0	1	0	6	111				
USP34	9736	broad.mit.edu	37	2	61441266	61441266	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:61441266G>C	ENST00000398571.2	-	68	8687	c.8611C>G	c.(8611-8613)Caa>Gaa	p.Q2871E	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2871					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GAAGCCAGTTGTCGTGTGAAT	0.478																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(8611-8613)Caa>Gaa		ubiquitin specific peptidase 34							85.0	83.0	84.0					2																	61441266		2040	4202	6242	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61441266G>C	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.8611C>G	2.37:g.61441266G>C	ENSP00000381577:p.Gln2871Glu					USP34_ENST00000472689.1_5'UTR	p.Q2871E	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		68	8687	-			2871					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.8611C>G	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.87|17.87	3.493910|3.493910	0.64186|0.64186	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571|ENST00000411912	T|.	0.34472|.	1.36|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73016|0.73016	0.3533|0.3533	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	P|.	0.40332|.	0.713|.	P|.	0.51806|.	0.68|.	T|T	0.69191|0.69191	-0.5210|-0.5210	10|5	0.66056|.	D|.	0.02|.	.|.	19.7142|19.7142	0.96108|0.96108	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2871|.	Q70CQ2|.	UBP34_HUMAN|.	E|R	2719;2719;2871|630	ENSP00000381577:Q2871E|.	ENSP00000263989:Q2719E|.	Q|T	-|-	1|2	0|0	USP34|USP34	61294770|61294770	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.779000|9.779000	0.99018|0.99018	2.738000|2.738000	0.93877|0.93877	0.591000|0.591000	0.81541|0.81541	CAA|ACA		0.478	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			16	60	0	0	0	1	0	16	60				
ANKRD36BP2	645784	broad.mit.edu	37	2	89100808	89100808	+	RNA	SNP	C	C	A	rs112658022		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:89100808C>A	ENST00000393525.3	+	0	1282									ankyrin repeat domain 36B pseudogene 2																		TGAAAAAAAGCAAGCAGAAAG	0.313																																						ENST00000393525.3																			0																																																			645784							g.chr2:89100808C>A			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89100808C>A														0	1282	+									RNA	SNP	ENST00000393525.3	37																																																																																						0.313	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			3	27	1	0	0.0293803	1	0.0295628	3	27				
PRDM9	56979	broad.mit.edu	37	5	23522481	23522481	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr5:23522481G>T	ENST00000296682.3	+	7	759	c.577G>T	c.(577-579)Gag>Tag	p.E193*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	193					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGCATACAAAGAGGTCAGCGA	0.443										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(577-579)Gag>Tag		PR domain containing 9							144.0	153.0	150.0					5																	23522481		1989	4182	6171	SO:0001587	stop_gained	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522481G>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.577G>T	5.37:g.23522481G>T	ENSP00000296682:p.Glu193*	HNSCC(3;0.000094)					p.E193*	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			7	759	+			193					B4DX22|Q27Q50	Nonsense_Mutation	SNP	ENST00000296682.3	37	c.577G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	36	5.783330	0.96937	.	.	ENSG00000164256	ENST00000296682	.	.	.	3.63	3.63	0.41609	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.5418	11.5487	0.50708	0.0:0.0:1.0:0.0	.	.	.	.	X	193	.	ENSP00000296682:E193X	E	+	1	0	PRDM9	23558238	0.996000	0.38824	0.892000	0.35008	0.704000	0.40688	4.069000	0.57541	1.974000	0.57490	0.531000	0.56144	GAG		0.443	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		42	208	1	0	1.76056e-25	1	2.12843e-25	42	208				
SHROOM3	57619	broad.mit.edu	37	4	77700111	77700111	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr4:77700111C>A	ENST00000296043.6	+	11	6725	c.5772C>A	c.(5770-5772)ttC>ttA	p.F1924L	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1924	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACCAGCACTTCGTGAAAATGA	0.567																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(5770-5772)ttC>ttA		shroom family member 3							97.0	93.0	94.0					4																	77700111		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77700111C>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5772C>A	4.37:g.77700111C>A	ENSP00000296043:p.Phe1924Leu					RP11-359D14.3_ENST00000449007.1_RNA	p.F1924L	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		11	6725	+			1924			ASD2.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.5772C>A	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007933	0.75046	.	.	ENSG00000138771	ENST00000296043	T	0.42513	0.97	5.31	1.03	0.20045	Apx/shroom, ASD2 (2);	0.081107	0.53938	D	0.000055	T	0.55417	0.1919	M	0.67569	2.06	0.49798	D	0.99982	D	0.71674	0.998	D	0.70716	0.97	T	0.53129	-0.8482	10	0.87932	D	0	-23.8093	7.8923	0.29686	0.0:0.5229:0.0:0.4771	.	1924	Q8TF72	SHRM3_HUMAN	L	1924	ENSP00000296043:F1924L	ENSP00000296043:F1924L	F	+	3	2	SHROOM3	77919135	0.385000	0.25172	0.998000	0.56505	0.988000	0.76386	-0.357000	0.07651	0.032000	0.15435	0.591000	0.81541	TTC		0.567	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		47	106	1	0	3.05275e-18	1	3.60982e-18	47	106				
GGT5	2687	broad.mit.edu	37	22	24616059	24616059	+	Missense_Mutation	SNP	C	C	A	rs141036787	byFrequency	TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr22:24616059C>A	ENST00000327365.4	-	12	2056	c.1640G>T	c.(1639-1641)cGt>cTt	p.R547L	GGT5_ENST00000418439.2_Missense_Mutation_p.R471L|GGT5_ENST00000263112.7_Missense_Mutation_p.R515L|GGT5_ENST00000398292.3_Missense_Mutation_p.R548L	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	547					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GTTCTGGCCACGGTCTTGGAG	0.627																																						ENST00000327365.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(1639-1641)cGt>cTt		gamma-glutamyltransferase 5							79.0	56.0	64.0					22																	24616059		2203	4300	6503	SO:0001583	missense	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24616059C>A	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1640G>T	22.37:g.24616059C>A	ENSP00000330080:p.Arg547Leu					GGT5_ENST00000398292.3_Missense_Mutation_p.R548L|GGT5_ENST00000418439.2_Missense_Mutation_p.R471L|GGT5_ENST00000263112.7_Missense_Mutation_p.R515L	p.R547L	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			12	2056	-			547					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	c.1640G>T	CCDS13825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.300|9.300	1.052952|1.052952	0.19907|0.19907	.|.	.|.	ENSG00000099998|ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439|ENST00000425408	T;T;T;T|.	0.08282|.	3.11;3.11;3.11;3.11|.	4.71|4.71	3.67|3.67	0.42095|0.42095	.|.	0.292777|.	0.33040|.	N|.	0.005341|.	T|T	0.40347|0.40347	0.1113|0.1113	L|L	0.42487|0.42487	1.325|1.325	0.09310|0.09310	N|N	1|1	P;B;B;B|.	0.43701|.	0.815;0.001;0.002;0.001|.	P;B;B;B|.	0.49999|.	0.628;0.017;0.019;0.019|.	T|T	0.23084|0.23084	-1.0198|-1.0198	10|5	0.52906|.	T|.	0.07|.	-6.2331|-6.2331	9.8296|9.8296	0.40932|0.40932	0.0:0.8996:0.0:0.1004|0.0:0.8996:0.0:0.1004	.|.	471;515;548;547|.	E7EUG3;P36269-2;Q6GMP0;P36269|.	.;.;.;GGT5_HUMAN|.	L|L	547;515;462;548;471|181	ENSP00000330080:R547L;ENSP00000263112:R515L;ENSP00000381340:R548L;ENSP00000392146:R471L|.	ENSP00000263112:R515L|.	R|V	-|-	2|1	0|0	GGT5|GGT5	22946059|22946059	0.007000|0.007000	0.16637|0.16637	0.003000|0.003000	0.11579|0.11579	0.060000|0.060000	0.15804|0.15804	0.588000|0.588000	0.23924|0.23924	1.271000|1.271000	0.44313|0.44313	0.650000|0.650000	0.86243|0.86243	CGT|GTG		0.627	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		5	57	1	0	0.014758	1	0.0149425	5	57				
KRTAP10-3	386682	broad.mit.edu	37	21	45978232	45978232	+	Missense_Mutation	SNP	T	T	C	rs587619630	byFrequency	TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr21:45978232T>C	ENST00000391620.1	-	1	411	c.367A>G	c.(367-369)Atc>Gtc	p.I123V	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	123	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						acacagcagatgggcttgcag	0.652													T|||	3	0.000599042	0.0015	0.0014	5008	,	,		17583	0.0		0.0	False		,,,				2504	0.0					ENST00000391620.1																			0				kidney(1)|lung(4)|prostate(1)|skin(1)	7						c.(367-369)Atc>Gtc		keratin associated protein 10-3							164.0	164.0	164.0					21																	45978232		2203	4300	6503	SO:0001583	missense	386682					keratin filament		g.chr21:45978232T>C	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.367A>G	21.37:g.45978232T>C	ENSP00000375478:p.Ile123Val					TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	p.I123V	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN			1	411	-			123			18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	c.367A>G	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.850393	0.00066	.	.	ENSG00000212935	ENST00000391620	T	0.01209	5.17	3.53	1.68	0.24146	.	.	.	.	.	T	0.00440	0.0014	N	0.00765	-1.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43491	-0.9388	9	0.02654	T	1	.	7.2709	0.26256	0.0:0.7638:0.0:0.2362	.	123	P60369	KR103_HUMAN	V	123	ENSP00000375478:I123V	ENSP00000375478:I123V	I	-	1	0	KRTAP10-3	44802660	0.000000	0.05858	0.008000	0.14137	0.003000	0.03518	-1.913000	0.01580	0.822000	0.34565	-0.232000	0.12228	ATC		0.652	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			5	457	0	0	0	1	0	5	457				
ANKRD36BP2	645784	broad.mit.edu	37	2	89100816	89100816	+	RNA	SNP	A	A	G	rs200993950		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:89100816A>G	ENST00000393525.3	+	0	1290									ankyrin repeat domain 36B pseudogene 2																		AGCAAGCAGAAAGAGAAGTAA	0.303																																						ENST00000393525.3																			0																																																			645784							g.chr2:89100816A>G			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89100816A>G														0	1290	+									RNA	SNP	ENST00000393525.3	37																																																																																						0.303	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			3	25	0	0	0	1	0	3	25				
WFIKKN2	124857	broad.mit.edu	37	17	48918253	48918253	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:48918253G>A	ENST00000311378.4	+	2	2132	c.1604G>A	c.(1603-1605)gGc>gAc	p.G535D	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.G442D	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	535	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GAGGTGGACGGCGGCATGGCC	0.632																																						ENST00000311378.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29						c.(1603-1605)gGc>gAc		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2							55.0	43.0	47.0					17																	48918253		2203	4300	6503	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48918253G>A	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1604G>A	17.37:g.48918253G>A	ENSP00000311184:p.Gly535Asp					WFIKKN2_ENST00000426127.1_Missense_Mutation_p.G442D|RP11-506D12.5_ENST00000572491.2_RNA	p.G535D	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	2132	+			535			NTR.		Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.1604G>A	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	G	4.173	0.030575	0.08101	.	.	ENSG00000173714	ENST00000426127;ENST00000311378;ENST00000393226	T;T	0.28255	1.62;1.62	5.12	4.14	0.48551	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (1);	0.148339	0.56097	D	0.000021	T	0.07999	0.0200	N	0.01576	-0.805	0.35390	D	0.790663	B	0.02656	0.0	B	0.06405	0.002	T	0.33803	-0.9854	10	0.02654	T	1	.	5.1026	0.14768	0.293:0.0:0.707:0.0	.	535	Q8TEU8	WFKN2_HUMAN	D	442;535;241	ENSP00000405889:G442D;ENSP00000311184:G535D	ENSP00000311184:G535D	G	+	2	0	WFIKKN2	46273252	0.998000	0.40836	0.716000	0.30569	0.859000	0.49053	7.352000	0.79404	2.539000	0.85634	0.561000	0.74099	GGC		0.632	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		15	45	0	0	0	1	0	15	45				
CMIP	80790	broad.mit.edu	37	16	81735383	81735383	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr16:81735383G>A	ENST00000537098.3	+	16	1946	c.1874G>A	c.(1873-1875)cGg>cAg	p.R625Q	CMIP_ENST00000398040.4_Missense_Mutation_p.R472Q|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Missense_Mutation_p.R531Q	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	625						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						CTGTGTGACCGGCAGCGGGAG	0.637																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(1873-1875)cGg>cAg		c-Maf inducing protein							105.0	112.0	109.0					16																	81735383		2124	4241	6365	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81735383G>A	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1874G>A	16.37:g.81735383G>A	ENSP00000446100:p.Arg625Gln					CMIP_ENST00000398040.4_Missense_Mutation_p.R472Q|CMIP_ENST00000539778.2_Missense_Mutation_p.R531Q|CMIP_ENST00000566513.1_3'UTR	p.R625Q	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			16	1946	+			591					Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.1874G>A	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583973	0.86748	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.09073	3.02;3.02	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.17066	0.0410	L	0.27053	0.805	0.58432	D	0.999999	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.66847	0.947;0.947;0.92	T	0.02539	-1.1144	10	0.49607	T	0.09	.	16.1162	0.81306	0.0:0.0:1.0:0.0	.	472;531;625	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	Q	625;531;531;438	ENSP00000446100:R625Q;ENSP00000440401:R531Q	ENSP00000381120:R531Q	R	+	2	0	CMIP	80292884	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	9.821000	0.99360	2.233000	0.73108	0.313000	0.20887	CGG		0.637	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		5	228	0	0	0	1	0	5	228				
NDUFV3	4731	broad.mit.edu	37	21	44324335	44324335	+	Intron	SNP	G	G	T	rs371132456		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr21:44324335G>T	ENST00000340344.4	+	3	235				NDUFV3_ENST00000354250.2_Nonsense_Mutation_p.E405*|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		GGCCGAGGGCGAGGCCATGGA	0.572																																						ENST00000354250.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10						c.(1213-1215)Gag>Tag		NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	NADH(DB00157)						34.0	30.0	32.0					21																	44324335		2203	4300	6503	SO:0001627	intron_variant	4731				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity	g.chr21:44324335G>T		CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.170-4639G>T	21.37:g.44324335G>T						NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Intron	p.E405*	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN		STAD - Stomach adenocarcinoma(101;0.0606)	3	1282	+			40					A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Nonsense_Mutation	SNP	ENST00000340344.4	37	c.1213G>T	CCDS33573.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338945	0.60963	.	.	ENSG00000160194	ENST00000354250	.	.	.	4.01	1.15	0.20763	.	1.204110	0.06055	N	0.657277	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.2969	4.493	0.11822	0.2404:0.2376:0.5219:0.0	.	.	.	.	X	405	.	ENSP00000346196:E405X	E	+	1	0	NDUFV3	43197404	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.257000	0.08745	0.103000	0.17682	0.561000	0.74099	GAG		0.572	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			7	23	1	0	0.00198382	1	0.002047	7	23				
INPP4A	3631	broad.mit.edu	37	2	99169316	99169316	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:99169316G>A	ENST00000523221.1	+	13	1246	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	INPP4A_ENST00000545415.1_Missense_Mutation_p.A416T|INPP4A_ENST00000409540.3_Missense_Mutation_p.A416T|INPP4A_ENST00000409851.3_Missense_Mutation_p.A411T|INPP4A_ENST00000409016.4_Missense_Mutation_p.A416T|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000074304.5_Missense_Mutation_p.A416T			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	416					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GGAGATCATCGCCCAGATCAA	0.517																																						ENST00000074304.5																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.(1246-1248)Gcc>Acc		inositol polyphosphate-4-phosphatase, type I, 107kDa							80.0	77.0	78.0					2																	99169316		2005	4167	6172	SO:0001583	missense	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99169316G>A	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.1246G>A	2.37:g.99169316G>A	ENSP00000427722:p.Ala416Thr					INPP4A_ENST00000523221.1_Missense_Mutation_p.A416T|INPP4A_ENST00000409851.3_Missense_Mutation_p.A411T|INPP4A_ENST00000409540.3_Missense_Mutation_p.A416T|INPP4A_ENST00000409016.3_Missense_Mutation_p.A416T|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000545415.1_Missense_Mutation_p.A416T	p.A416T	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN			15	1639	+			416					O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	c.1246G>A	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847369	0.91277	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17	5.03	5.03	0.67393	.	0.054882	0.64402	D	0.000001	T	0.25644	0.0624	L	0.40543	1.245	0.54753	D	0.999988	D;D;D;D	0.58268	0.959;0.978;0.982;0.982	B;B;P;P	0.47864	0.357;0.378;0.559;0.559	T	0.00790	-1.1565	10	0.36615	T	0.2	-24.8771	17.5362	0.87832	0.0:0.0:1.0:0.0	.	416;416;416;411	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	T	416;411;416;416;416;416	ENSP00000386704:A416T;ENSP00000386777:A411T;ENSP00000074304:A416T;ENSP00000442149:A416T;ENSP00000387294:A416T;ENSP00000427722:A416T	ENSP00000074304:A416T	A	+	1	0	INPP4A	98535748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.492000	0.81482	2.608000	0.88229	0.655000	0.94253	GCC		0.517	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		7	44	0	0	0	1	0	7	44				
ZIC4	84107	broad.mit.edu	37	3	147114093	147114093	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:147114093G>T	ENST00000383075.3	-	3	746	c.234C>A	c.(232-234)ttC>ttA	p.F78L	ZIC4_ENST00000425731.3_Missense_Mutation_p.F116L|ZIC4_ENST00000484399.1_Missense_Mutation_p.F78L|ZIC4_ENST00000473123.1_Missense_Mutation_p.F78L|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.F128L	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	78						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCCCTGGCGGGAAGGGCTCCG	0.721																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(232-234)ttC>ttA		Zic family member 4							10.0	13.0	12.0					3																	147114093		1896	4076	5972	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147114093G>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.234C>A	3.37:g.147114093G>T	ENSP00000372553:p.Phe78Leu					ZIC4_ENST00000525172.2_Missense_Mutation_p.F128L|ZIC4_ENST00000484399.1_Missense_Mutation_p.F78L|ZIC4_ENST00000425731.3_Missense_Mutation_p.F116L|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Missense_Mutation_p.F78L	p.F78L	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			3	746	-			78					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.234C>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662658	0.47572	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29	5.01	3.12	0.35913	.	0.000000	0.46442	D	0.000283	T	0.29945	0.0749	L	0.42245	1.32	0.80722	D	1	B;B	0.23540	0.087;0.053	B;B	0.26864	0.074;0.012	T	0.05632	-1.0873	10	0.41790	T	0.15	.	9.8192	0.40871	0.1764:0.0:0.8236:0.0	.	128;78	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	L	78;116;128;78;78;78	ENSP00000372553:F78L;ENSP00000397695:F116L;ENSP00000435509:F128L;ENSP00000417855:F78L;ENSP00000420775:F78L;ENSP00000420627:F78L	ENSP00000372553:F78L	F	-	3	2	ZIC4	148596783	1.000000	0.71417	0.937000	0.37676	0.777000	0.43975	1.837000	0.39201	0.444000	0.26612	0.561000	0.74099	TTC		0.721	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			5	45	1	0	0.014758	1	0.0149425	5	45				
DMGDH	29958	broad.mit.edu	37	5	78294107	78294107	+	Missense_Mutation	SNP	G	G	A	rs151220884	byFrequency	TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr5:78294107G>A	ENST00000255189.3	-	16	2427	c.2399C>T	c.(2398-2400)aCg>aTg	p.T800M		NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	800					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TCCAGATGTCGTGTTGCCAAC	0.458													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18524	0.0		0.0	False		,,,				2504	0.0					ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2398-2400)aCg>aTg		dimethylglycine dehydrogenase		G	MET/THR	6,4398	11.4+/-27.6	0,6,2196	72.0	59.0	63.0		2399	5.2	0.9	5	dbSNP_134	63	0,8600		0,0,4300	yes	missense	DMGDH	NM_013391.2	81	0,6,6496	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging	800/867	78294107	6,12998	2202	4300	6502	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78294107G>A	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.2399C>T	5.37:g.78294107G>A	ENSP00000255189:p.Thr800Met						p.T800M	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	16	2427	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	800					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.2399C>T	CCDS4044.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	19.75	3.885579	0.72410	0.001362	0.0	ENSG00000132837	ENST00000255189	T	0.77620	-1.11	6.03	5.16	0.70880	Glycine cleavage T-protein, C-terminal barrel (1);	0.000000	0.85682	D	0.000000	D	0.84215	0.5423	M	0.84156	2.68	0.80722	D	1	D	0.65815	0.995	D	0.63283	0.913	D	0.87809	0.2630	10	0.72032	D	0.01	.	15.4719	0.75446	0.0663:0.0:0.9337:0.0	.	800	Q9UI17	M2GD_HUMAN	M	800	ENSP00000255189:T800M	ENSP00000255189:T800M	T	-	2	0	DMGDH	78329863	1.000000	0.71417	0.902000	0.35471	0.980000	0.70556	9.655000	0.98512	1.557000	0.49525	0.655000	0.94253	ACG		0.458	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		6	20	0	0	0	1	0	6	20				
EPN2	22905	broad.mit.edu	37	17	19213237	19213237	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:19213237G>A	ENST00000314728.5	+	5	1290	c.806G>A	c.(805-807)cGg>cAg	p.R269Q	EPN2_ENST00000395620.2_Missense_Mutation_p.R212Q|EPN2_ENST00000571254.1_Missense_Mutation_p.R212Q|EPN2_ENST00000395618.3_5'UTR|EPN2_ENST00000347697.2_Missense_Mutation_p.R212Q|EPN2_ENST00000575595.1_5'UTR|EPN2_ENST00000395626.1_Missense_Mutation_p.R269Q	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	269					embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)	p.R269P(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GAGCAAGCCCGGCCCCAGACT	0.597																																						ENST00000314728.5																			1	Substitution - Missense(1)	p.R269P(1)	breast(1)	breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19						c.(805-807)cGg>cAg		epsin 2							68.0	68.0	68.0					17																	19213237		2203	4300	6503	SO:0001583	missense	22905				endocytosis		lipid binding	g.chr17:19213237G>A	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.806G>A	17.37:g.19213237G>A	ENSP00000320543:p.Arg269Gln					EPN2_ENST00000395626.1_Missense_Mutation_p.R269Q|EPN2_ENST00000575595.1_5'UTR|EPN2_ENST00000395620.2_Missense_Mutation_p.R212Q|EPN2_ENST00000347697.2_Missense_Mutation_p.R212Q|EPN2_ENST00000395618.3_5'UTR|EPN2_ENST00000571254.1_Missense_Mutation_p.R212Q	p.R269Q	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN			5	1290	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		269					A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	c.806G>A	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	G	34	5.339778	0.95783	.	.	ENSG00000072134	ENST00000347697;ENST00000314728;ENST00000395628;ENST00000395620;ENST00000395626	T;T;T;T;T	0.42513	2.18;1.99;1.21;2.18;0.97	5.52	5.52	0.82312	.	0.420055	0.27294	N	0.020039	T	0.69531	0.3121	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.83275	0.996;0.996;0.994;0.99;0.996;0.988	T	0.72265	-0.4344	10	0.56958	D	0.05	-34.638	19.4391	0.94811	0.0:0.0:1.0:0.0	.	212;212;269;212;212;269	Q52LD0;B7ZKM5;E9PBC1;E7EMC3;E9PBC2;O95208	.;.;.;.;.;EPN2_HUMAN	Q	212;269;212;212;269	ENSP00000261495:R212Q;ENSP00000320543:R269Q;ENSP00000378990:R212Q;ENSP00000378982:R212Q;ENSP00000378988:R269Q	ENSP00000320543:R269Q	R	+	2	0	EPN2	19153830	1.000000	0.71417	0.999000	0.59377	1.000000	0.99986	9.556000	0.98127	2.597000	0.87782	0.655000	0.94253	CGG		0.597	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		4	137	0	0	0	1	0	4	137				
LAMA3	3909	broad.mit.edu	37	18	21364064	21364064	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr18:21364064G>C	ENST00000313654.9	+	12	1787	c.1546G>C	c.(1546-1548)Gag>Cag	p.E516Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.E516Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	516	Domain V.|Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CCCTGGGGTTGAGGGCCCTCG	0.507																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(1546-1548)Gag>Cag		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						155.0	164.0	161.0					18																	21364064		1973	4131	6104	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21364064G>C	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1546G>C	18.37:g.21364064G>C	ENSP00000324532:p.Glu516Gln					LAMA3_ENST00000399516.3_Missense_Mutation_p.E516Q	p.E516Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			12	1787	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		516			Domain V.|Laminin EGF-like 4.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.1546G>C	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	7.916	0.737544	0.15574	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.34275	1.37;1.37	5.64	2.89	0.33648	EGF-like, laminin (4);EGF-like region, conserved site (1);	.	.	.	.	T	0.36303	0.0962	L	0.35644	1.08	0.09310	N	0.999999	B;D;P	0.56746	0.066;0.977;0.952	B;P;P	0.54965	0.019;0.765;0.56	T	0.13361	-1.0512	9	0.18710	T	0.47	.	7.1563	0.25639	0.1448:0.1411:0.7141:0.0	.	518;516;516	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	Q	516;516;514;518	ENSP00000324532:E516Q;ENSP00000382432:E516Q	ENSP00000324532:E516Q	E	+	1	0	LAMA3	19618062	0.996000	0.38824	0.194000	0.23346	0.153000	0.21895	2.507000	0.45442	0.335000	0.23614	-0.182000	0.12963	GAG		0.507	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		24	138	0	0	0	1	0	24	138				
ABCB5	340273	broad.mit.edu	37	7	20706380	20706380	+	Intron	SNP	A	A	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr7:20706380A>T	ENST00000404938.2	+	14	2359				ABCB5_ENST00000406935.1_Splice_Site|ABCB5_ENST00000258738.6_Intron	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5						antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGTATTTTCTAGAAAAAATAA	0.333																																						ENST00000406935.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.e6-1		ATP-binding cassette, sub-family B (MDR/TAP), member 5							63.0	59.0	60.0					7																	20706380		1568	3579	5147	SO:0001627	intron_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20706380A>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1707+8081A>T	7.37:g.20706380A>T						ABCB5_ENST00000258738.6_Intron|ABCB5_ENST00000404938.2_Intron		NM_001163993.1	NP_001157465.1	Q2M3G0	ABCB5_HUMAN			6	918	+								A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Splice_Site	SNP	ENST00000404938.2	37		CCDS55090.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.804646	0.31961	.	.	ENSG00000004846	ENST00000406935	.	.	.	2.85	1.69	0.24217	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5855	0.12280	0.8463:0.0:0.1537:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCB5	20672905	0.634000	0.27190	0.824000	0.32777	0.298000	0.27526	0.419000	0.21247	0.498000	0.27948	0.533000	0.62120	.		0.333	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		3	23	0	0	0	1	0	3	23				
OR6N2	81442	broad.mit.edu	37	1	158747425	158747425	+	Splice_Site	SNP	T	T	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:158747425T>G	ENST00000339258.1	-	1	0	c.1A>C	c.(1-3)Atg>Ctg	p.M1L		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TATTGATCCATGGGAGGCTGA	0.438																																						ENST00000339258.1																			0				endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e1-1		olfactory receptor, family 6, subfamily N, member 2							36.0	39.0	38.0					1																	158747425		2199	4296	6495	SO:0001630	splice_region_variant	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747425T>G	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.1-1A>C	1.37:g.158747425T>G							p.M1_splice	NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN			1	0	-	all_hematologic(112;0.0378)		1					Q6IFR2	Splice_Site	SNP	ENST00000339258.1	37	c.0_splice	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.381411	0.42207	.	.	ENSG00000188340	ENST00000339258	T	0.01295	5.04	5.17	5.17	0.71159	.	0.000000	0.46758	D	0.000274	T	0.03739	0.0106	.	.	.	.	.	.	D	0.53462	0.96	D	0.64321	0.924	T	0.16660	-1.0395	8	0.87932	D	0	-23.3686	14.1215	0.65189	0.0:0.0:0.0:1.0	.	1	Q8NGY6	OR6N2_HUMAN	L	1	ENSP00000344101:M1L	ENSP00000344101:M1L	M	-	1	0	OR6N2	157014049	0.997000	0.39634	0.990000	0.47175	0.195000	0.23768	6.422000	0.73357	2.169000	0.68431	0.528000	0.53228	ATG		0.438	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1		Missense_Mutation	15	63	0	0	0	1	0	15	63				
CEP63	80254	broad.mit.edu	37	3	134265027	134265027	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:134265027C>T	ENST00000337090.3	+	8	999	c.826C>T	c.(826-828)Ctt>Ttt	p.L276F	CEP63_ENST00000513612.2_Missense_Mutation_p.L276F|CEP63_ENST00000606977.1_Missense_Mutation_p.L276F|CEP63_ENST00000354446.3_Missense_Mutation_p.L276F|CEP63_ENST00000383229.3_Missense_Mutation_p.L276F|CEP63_ENST00000332047.5_Missense_Mutation_p.L276F			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	276					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAAGGCAGCTCTTCAGTCTCA	0.358																																						ENST00000337090.3																			0				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(826-828)Ctt>Ttt		centrosomal protein 63kDa							74.0	77.0	76.0					3																	134265027		2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134265027C>T	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.826C>T	3.37:g.134265027C>T	ENSP00000336524:p.Leu276Phe					CEP63_ENST00000383229.3_Missense_Mutation_p.L276F|CEP63_ENST00000354446.3_Missense_Mutation_p.L276F|CEP63_ENST00000332047.5_Missense_Mutation_p.L276F|CEP63_ENST00000606977.1_Missense_Mutation_p.L276F|CEP63_ENST00000513612.2_Missense_Mutation_p.L276F	p.L276F			Q96MT8	CEP63_HUMAN			8	999	+			276					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.826C>T	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349528	0.61183	.	.	ENSG00000182923	ENST00000332047;ENST00000354446;ENST00000337090;ENST00000383229;ENST00000513612	T;T;T;T;T	0.52295	1.07;1.39;1.3;0.67;1.3	6.1	5.19	0.71726	.	0.246207	0.31381	N	0.007747	T	0.64249	0.2581	M	0.72118	2.19	0.42479	D	0.99285	D;D;D;D	0.89917	0.998;1.0;0.999;0.996	D;D;D;P	0.79108	0.959;0.992;0.985;0.9	T	0.66559	-0.5893	10	0.87932	D	0	-8.2684	9.3036	0.37861	0.0:0.6839:0.2297:0.0864	.	276;276;276;276	Q96MT8;Q96MT8-2;Q96MT8-4;Q96MT8-3	CEP63_HUMAN;.;.;.	F	276	ENSP00000328382:L276F;ENSP00000346432:L276F;ENSP00000336524:L276F;ENSP00000372716:L276F;ENSP00000426129:L276F	ENSP00000328382:L276F	L	+	1	0	CEP63	135747717	0.903000	0.30736	0.981000	0.43875	0.720000	0.41350	0.442000	0.21628	2.902000	0.99343	0.650000	0.86243	CTT		0.358	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		30	75	0	0	0	1	0	30	75				
FGGY	55277	broad.mit.edu	37	1	60103901	60103901	+	Splice_Site	SNP	T	T	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:60103901T>A	ENST00000303721.7	+	11	1249	c.1075T>A	c.(1075-1077)Tgc>Agc	p.C359S	FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371218.4_Splice_Site_p.C359S|FGGY_ENST00000371210.1_Splice_Site_p.C60S|FGGY_ENST00000371212.1_Splice_Site_p.C271S	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	359					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CTCTTCCAGATGCCAGAGTAT	0.393																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.e11-1		FGGY carbohydrate kinase domain containing							126.0	124.0	125.0					1																	60103901		2203	4300	6503	SO:0001630	splice_region_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:60103901T>A		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.1074-1T>A	1.37:g.60103901T>A						FGGY_ENST00000371212.1_Splice_Site_p.C271_splice|FGGY_ENST00000371210.1_Splice_Site_p.C60_splice|FGGY_ENST00000474476.1_Intron|FGGY_ENST00000303721.7_Splice_Site_p.C359_splice	p.C359_splice	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN			11	1259	+	all_cancers(7;7.36e-05)		359					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Splice_Site	SNP	ENST00000303721.7	37	c.1073_splice	CCDS611.2	.	.	.	.	.	.	.	.	.	.	T	10.65	1.409313	0.25378	.	.	ENSG00000172456	ENST00000371218;ENST00000303721;ENST00000371212;ENST00000371210	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	5.23	4.09	0.47781	Carbohydrate kinase, FGGY, C-terminal (1);	0.254182	0.44285	D	0.000475	T	0.68412	0.2998	N	0.01048	-1.04	0.29828	N	0.830309	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.09377	0.004;0.001;0.0;0.0	T	0.59445	-0.7453	9	.	.	.	-2.3182	11.7536	0.51862	0.0:0.0:0.4751:0.5249	.	359;271;359;359	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	S	359;359;271;60	ENSP00000360262:C359S;ENSP00000305922:C359S;ENSP00000360256:C271S;ENSP00000360254:C60S	.	C	+	1	0	FGGY	59876489	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.343000	0.44001	0.988000	0.38734	0.533000	0.62120	TGC		0.393	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411	Missense_Mutation	36	91	0	0	0	1	0	36	91				
ITGB4	3691	broad.mit.edu	37	17	73720804	73720804	+	Missense_Mutation	SNP	C	C	G	rs368149213		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:73720804C>G	ENST00000200181.3	+	2	208	c.21C>G	c.(19-21)agC>agG	p.S7R	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Missense_Mutation_p.S7R|ITGB4_ENST00000450894.3_Missense_Mutation_p.S7R|ITGB4_ENST00000339591.3_Missense_Mutation_p.S7R|ITGB4_ENST00000449880.2_Missense_Mutation_p.S7R	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	7					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACGCCCCAGCCCATGGGCCA	0.632																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(19-21)agC>agG		integrin, beta 4							62.0	58.0	59.0					17																	73720804		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73720804C>G		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.21C>G	17.37:g.73720804C>G	ENSP00000200181:p.Ser7Arg					ITGB4_ENST00000579662.1_Missense_Mutation_p.S7R|ITGB4_ENST00000450894.3_Missense_Mutation_p.S7R|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.S7R|ITGB4_ENST00000339591.3_Missense_Mutation_p.S7R	p.S7R	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		2	208	+	all_cancers(13;1.5e-07)		7					A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.21C>G	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	C	9.380	1.072790	0.20147	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.74737	-0.87;-0.82;-0.82	4.76	2.69	0.31865	.	0.460715	0.20007	N	0.101216	T	0.52725	0.1752	N	0.12182	0.205	0.09310	N	1	P;P;B;B	0.41848	0.763;0.763;0.309;0.201	B;B;B;B	0.39185	0.293;0.277;0.109;0.08	T	0.47898	-0.9081	10	0.54805	T	0.06	.	6.4888	0.22103	0.0:0.5433:0.341:0.1157	.	7;7;7;7	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	R	7	ENSP00000200181:S7R;ENSP00000344079:S7R;ENSP00000400217:S7R	ENSP00000200181:S7R	S	+	3	2	ITGB4	71232399	0.004000	0.15560	0.042000	0.18584	0.972000	0.66771	0.549000	0.23329	1.008000	0.39264	0.313000	0.20887	AGC		0.632	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			14	75	0	0	0	1	0	14	75				
KMT2D	8085	broad.mit.edu	37	12	49440158	49440158	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:49440158C>A	ENST00000301067.7	-	16	4467	c.4468G>T	c.(4468-4470)Gaa>Taa	p.E1490*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1490	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TTCTGCCATTCACAGTGGAAG	0.537																																						ENST00000301067.7																			0											c.(4468-4470)Gaa>Taa		lysine (K)-specific methyltransferase 2D							99.0	109.0	105.0					12																	49440158		2128	4242	6370	SO:0001587	stop_gained	8085							g.chr12:49440158C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4468G>T	12.37:g.49440158C>A	ENSP00000301067:p.Glu1490*						p.E1490*	NM_003482.3	NP_003473.3					16	4467	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.4468G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	44	10.893411	0.99484	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.17	5.17	0.71159	.	0.000000	0.37715	N	0.001963	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.4357	0.87552	0.0:1.0:0.0:0.0	.	.	.	.	X	1490	.	ENSP00000301067:E1490X	E	-	1	0	MLL2	47726425	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.815000	0.86186	2.400000	0.81607	0.655000	0.94253	GAA		0.537	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			23	108	1	0	2.21704e-12	1	2.52929e-12	23	108				
NCOR2	9612	broad.mit.edu	37	12	124856695	124856695	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:124856695C>T	ENST00000405201.1	-	20	2680	c.2680G>A	c.(2680-2682)Gag>Aag	p.E894K	NCOR2_ENST00000404121.2_Missense_Mutation_p.E447K|NCOR2_ENST00000356219.3_Missense_Mutation_p.E894K|NCOR2_ENST00000429285.2_Missense_Mutation_p.E876K|NCOR2_ENST00000404621.1_Missense_Mutation_p.E876K|NCOR2_ENST00000397355.1_Missense_Mutation_p.E877K			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	894					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCTTCTTCTCTGCCTTGAGC	0.711																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2680-2682)Gag>Aag		nuclear receptor corepressor 2							35.0	44.0	41.0					12																	124856695		2058	4180	6238	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124856695C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2680G>A	12.37:g.124856695C>T	ENSP00000384018:p.Glu894Lys					NCOR2_ENST00000404121.2_Missense_Mutation_p.E447K|NCOR2_ENST00000397355.1_Missense_Mutation_p.E877K|NCOR2_ENST00000404621.1_Missense_Mutation_p.E876K|NCOR2_ENST00000429285.2_Missense_Mutation_p.E876K|NCOR2_ENST00000405201.1_Missense_Mutation_p.E894K	p.E894K	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	21	2835	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		894					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.2680G>A	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545479	0.65198	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.52295	1.6;1.6;1.6;1.6;0.79;1.6;0.67	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.65123	0.2661	L	0.54323	1.7	0.48901	D	0.999726	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.80764	0.985;0.985;0.994	T	0.68375	-0.5425	10	0.62326	D	0.03	-26.3589	17.7117	0.88323	0.0:1.0:0.0:0.0	.	876;877;894	C9J0Q5;C9J239;C9JFD3	.;.;.	K	894;876;894;877;893;447;876;894	ENSP00000384018:E894K;ENSP00000384202:E876K;ENSP00000348551:E894K;ENSP00000380513:E877K;ENSP00000385618:E447K;ENSP00000400281:E876K;ENSP00000402808:E894K	ENSP00000348551:E894K	E	-	1	0	NCOR2	123422648	1.000000	0.71417	0.926000	0.36857	0.135000	0.20990	7.339000	0.79282	2.168000	0.68352	0.561000	0.74099	GAG		0.711	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		28	105	0	0	0	1	0	28	105				
UBR5	51366	broad.mit.edu	37	8	103338797	103338797	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr8:103338797G>A	ENST00000520539.1	-	13	2182	c.1576C>T	c.(1576-1578)Ccg>Tcg	p.P526S	UBR5_ENST00000521922.1_Missense_Mutation_p.P520S|UBR5_ENST00000220959.4_Missense_Mutation_p.P526S	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	526					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTGATGTTCGGCATTGAAGAA	0.393																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(1576-1578)Ccg>Tcg		ubiquitin protein ligase E3 component n-recognin 5							224.0	194.0	204.0					8																	103338797		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103338797G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1576C>T	8.37:g.103338797G>A	ENSP00000429084:p.Pro526Ser					UBR5_ENST00000521922.1_Missense_Mutation_p.P520S|UBR5_ENST00000220959.4_Missense_Mutation_p.P526S	p.P526S	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		13	2182	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		526					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.1576C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788676	0.70337	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.44482	0.92;0.92;0.92	5.17	5.17	0.71159	.	0.061182	0.64402	D	0.000002	T	0.41534	0.1163	N	0.04508	-0.205	0.80722	D	1	D;D	0.54601	0.967;0.967	P;P	0.62382	0.901;0.901	T	0.50709	-0.8796	10	0.33940	T	0.23	.	19.045	0.93016	0.0:0.0:1.0:0.0	.	520;526	E7EMW7;O95071	.;UBR5_HUMAN	S	526;526;520	ENSP00000429084:P526S;ENSP00000220959:P526S;ENSP00000427819:P520S	ENSP00000220959:P526S	P	-	1	0	UBR5	103407973	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	9.373000	0.97168	2.567000	0.86603	0.454000	0.30748	CCG		0.393	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		13	126	0	0	0	1	0	13	126				
LIME1	54923	broad.mit.edu	37	20	62369957	62369957	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr20:62369957G>A	ENST00000309546.3	+	6	679	c.592G>A	c.(592-594)Gtc>Atc	p.V198I	SLC2A4RG_ENST00000266077.2_5'Flank|RP4-583P15.15_ENST00000490623.2_3'UTR|LIME1_ENST00000490824.1_3'UTR|RP4-583P15.14_ENST00000476221.1_3'UTR|RP4-583P15.14_ENST00000467211.1_Intron	NM_017806.2	NP_060276.2	Q9H400	LIME1_HUMAN	Lck interacting transmembrane adaptor 1	198					B cell receptor signaling pathway (GO:0050853)|T cell receptor signaling pathway (GO:0050852)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|liver(1)	3	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCAGGTGGACGTCCTGTACTC	0.672																																						ENST00000309546.3																			0				kidney(1)|large_intestine(1)|liver(1)	3						c.(592-594)Gtc>Atc		Lck interacting transmembrane adaptor 1							22.0	27.0	26.0					20																	62369957		2199	4294	6493	SO:0001583	missense	54923							g.chr20:62369957G>A	AK000413	CCDS13536.1	20q13.33	2010-05-11			ENSG00000203896	ENSG00000203896			26016	protein-coding gene	gene with protein product		609809				12477932	Standard	NM_017806		Approved	FLJ20406, dJ583P15.4, LIME	uc002ygp.4	Q9H400	OTTHUMG00000032999	ENST00000309546.3:c.592G>A	20.37:g.62369957G>A	ENSP00000309521:p.Val198Ile					ZGPAT_ENST00000490623.1_3'UTR|LIME1_ENST00000490824.1_3'UTR	p.V198I	NM_017806.2	NP_060276.2					6	679	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)							E1P5K5|E1P5K6|Q5JWJ2|Q6XYB3|Q9NX69	Missense_Mutation	SNP	ENST00000309546.3	37	c.592G>A	CCDS13536.1	.	.	.	.	.	.	.	.	.	.	g	6.729	0.503184	0.12822	.	.	ENSG00000203896	ENST00000309546	T	0.42900	0.96	3.37	-3.7	0.04437	.	.	.	.	.	T	0.15435	0.0372	N	0.08118	0	0.22412	N	0.999126	B	0.19445	0.036	B	0.09377	0.004	T	0.32214	-0.9915	9	0.05721	T	0.95	.	7.0855	0.25255	0.2168:0.2777:0.5054:0.0	.	198	Q9H400	LIME1_HUMAN	I	198	ENSP00000309521:V198I	ENSP00000309521:V198I	V	+	1	0	LIME1	61840401	0.000000	0.05858	0.255000	0.24374	0.665000	0.39181	-2.166000	0.01273	-0.929000	0.03757	-0.389000	0.06534	GTC		0.672	LIME1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080225.1	NM_017806		7	38	0	0	0	1	0	7	38				
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077655	32077655	+	RNA	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr16:32077655C>A	ENST00000354689.6	+	0	270				RP11-1166P10.6_ENST00000566806.1_RNA					immunoglobulin heavy variable 3/OR16-9 (non-functional)																		GAGCCGAGGACACGGCTGTGT	0.542																																						ENST00000354689.6																			0																																																			28307							g.chr16:32077655C>A	Z29606		16p11.2	2013-12-06	2008-09-11		ENSG00000270472	ENSG00000270472		"""Immunoglobulins / IGH orphons"""	5644	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-9"""				Standard			Approved	IGHV3/OR16-9			OTTHUMG00000184753		16.37:g.32077655C>A						RP11-1166P10.6_ENST00000566806.1_RNA								0	270	+									RNA	SNP	ENST00000354689.6	37			.	.	.	.	.	.	.	.	.	.	C	2.461	-0.324100	0.05350	.	.	ENSG00000198229	ENST00000354689	.	.	.	.	.	.	.	.	.	.	.	T	0.46698	0.1406	.	.	.	.	.	.	.	.	.	.	.	.	T	0.55742	-0.8093	3	0.87932	D	0	.	5.89	0.18904	0.0:0.9992:0.0:8.0E-4	.	.	.	.	E	90	.	ENSP00000346720:D90E	D	+	3	2	AC142381.1	31985156	0.932000	0.31603	0.219000	0.23793	0.221000	0.24807	0.599000	0.24089	0.107000	0.17824	0.109000	0.15622	GAC		0.542	IGHV3OR16-9-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432530.2			57	835	1	0	9.53978e-28	1	1.16199e-27	57	835				
CXCR5	643	broad.mit.edu	37	11	118765167	118765167	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:118765167C>T	ENST00000292174.4	+	2	1090	c.914C>T	c.(913-915)aCc>aTc	p.T305I	BCL9L_ENST00000334801.3_3'UTR	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	305					B cell activation (GO:0042113)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of cytokinesis (GO:0032467)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GTGGCCATCACCATGTGTGAG	0.612																																						ENST00000292174.4																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(913-915)aCc>aTc		chemokine (C-X-C motif) receptor 5							135.0	107.0	116.0					11																	118765167		2200	4295	6495	SO:0001583	missense	643				B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity	g.chr11:118765167C>T	X68829	CCDS8402.1	11q23.3	2012-08-08	2008-01-22	2008-01-22	ENSG00000160683	ENSG00000160683		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	1060	protein-coding gene	gene with protein product		601613	"""Burkitt lymphoma receptor 1, GTP-binding protein"", ""Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)"""	BLR1		1425907	Standard	NM_001716		Approved	MDR15, CD185	uc001pue.4	P32302	OTTHUMG00000166345	ENST00000292174.4:c.914C>T	11.37:g.118765167C>T	ENSP00000292174:p.Thr305Ile					BCL9L_ENST00000334801.3_3'UTR	p.T305I	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)	2	1090	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	305					Q14811	Missense_Mutation	SNP	ENST00000292174.4	37	c.914C>T	CCDS8402.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243836	0.22796	.	.	ENSG00000160683	ENST00000292174	T	0.35789	1.29	4.18	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.472859	0.21246	N	0.077729	T	0.23886	0.0578	L	0.31157	0.91	0.80722	D	1	B	0.30634	0.288	B	0.26416	0.069	T	0.09292	-1.0681	10	0.54805	T	0.06	.	9.429	0.38597	0.0:0.7397:0.0:0.2603	.	305	P32302	CXCR5_HUMAN	I	305	ENSP00000292174:T305I	ENSP00000292174:T305I	T	+	2	0	CXCR5	118270377	0.098000	0.21812	0.986000	0.45419	0.729000	0.41735	0.469000	0.22067	0.950000	0.37743	0.407000	0.27541	ACC		0.612	CXCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389309.1	NM_001716		15	112	0	0	0	1	0	15	112				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		5	89	0	0	0	1	0	5	89				
USP36	57602	broad.mit.edu	37	17	76803592	76803592	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:76803592C>A	ENST00000542802.3	-	14	1977	c.1534G>T	c.(1534-1536)Ggg>Tgg	p.G512W	USP36_ENST00000588467.1_5'Flank|USP36_ENST00000312010.6_Missense_Mutation_p.G512W|USP36_ENST00000449938.2_Missense_Mutation_p.G212W			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	512					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GAAGGGGACCCCGAGGGCAGC	0.587																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(1534-1536)Ggg>Tgg		ubiquitin specific peptidase 36							53.0	49.0	50.0					17																	76803592		2203	4300	6503	SO:0001583	missense	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76803592C>A	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.1534G>T	17.37:g.76803592C>A	ENSP00000441214:p.Gly512Trp					USP36_ENST00000542802.2_Missense_Mutation_p.G512W|USP36_ENST00000449938.2_Missense_Mutation_p.G212W	p.G512W	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		14	1858	-			512					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	c.1534G>T	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269265	0.40095	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802;ENST00000432878	T;T;T	0.18502	3.22;2.21;3.22	5.76	4.74	0.60224	.	0.368939	0.31123	N	0.008219	T	0.21881	0.0527	L	0.54323	1.7	0.37466	D	0.915396	B;B	0.28291	0.131;0.206	B;B	0.35073	0.096;0.195	T	0.07424	-1.0773	10	0.46703	T	0.11	-24.2167	14.2935	0.66295	0.0:0.8516:0.1484:0.0	.	512;512	Q9P275;Q9P275-2	UBP36_HUMAN;.	W	512;212;512;512	ENSP00000310590:G512W;ENSP00000401119:G212W;ENSP00000441214:G512W	ENSP00000310590:G512W	G	-	1	0	USP36	74315187	0.209000	0.23505	0.140000	0.22221	0.004000	0.04260	2.160000	0.42348	2.727000	0.93392	0.655000	0.94253	GGG		0.587	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		11	57	1	0	4.68919e-08	1	5.09831e-08	11	57				
BCKDHB	594	broad.mit.edu	37	6	80910677	80910677	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr6:80910677A>G	ENST00000320393.6	+	7	816	c.769A>G	c.(769-771)Aac>Gac	p.N257D	BCKDHB_ENST00000356489.5_Missense_Mutation_p.N257D|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	257					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		AGAACCATACAACATCCCACT	0.408																																						ENST00000320393.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15						c.(769-771)Aac>Gac		branched chain keto acid dehydrogenase E1, beta polypeptide							119.0	109.0	112.0					6																	80910677		2203	4300	6503	SO:0001583	missense	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:80910677A>G	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.769A>G	6.37:g.80910677A>G	ENSP00000318351:p.Asn257Asp					BCKDHB_ENST00000545529.1_3'UTR|BCKDHB_ENST00000356489.5_Missense_Mutation_p.N257D	p.N257D	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	7	816	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	257					Q5T2J3|Q9BQL0	Missense_Mutation	SNP	ENST00000320393.6	37	c.769A>G	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.426113	0.25726	.	.	ENSG00000083123	ENST00000320393;ENST00000356489;ENST00000541767	D;D	0.94000	-3.33;-3.33	6.17	0.576	0.17380	Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);	0.598874	0.20276	N	0.095544	T	0.68302	0.2986	N	0.03050	-0.425	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.58713	-0.7588	10	0.45353	T	0.12	-0.36	6.6998	0.23219	0.3786:0.1085:0.0:0.5129	.	257	P21953	ODBB_HUMAN	D	257;257;187	ENSP00000318351:N257D;ENSP00000348880:N257D	ENSP00000318351:N257D	N	+	1	0	BCKDHB	80967396	0.996000	0.38824	0.982000	0.44146	0.193000	0.23685	0.793000	0.26944	0.124000	0.18369	0.533000	0.62120	AAC		0.408	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056		7	61	0	0	0	1	0	7	61				
HELB	92797	broad.mit.edu	37	12	66703543	66703543	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:66703543C>T	ENST00000247815.4	+	4	894	c.835C>T	c.(835-837)Cag>Tag	p.Q279*		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	279					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AGCATTTTGTCAGTGTGAGTC	0.383																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(835-837)Cag>Tag		helicase (DNA) B							164.0	162.0	163.0					12																	66703543		2203	4300	6503	SO:0001587	stop_gained	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66703543C>T	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.835C>T	12.37:g.66703543C>T	ENSP00000247815:p.Gln279*						p.Q279*	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	4	894	+			279					A8K4C9|Q4G0T2|Q9H7L5	Nonsense_Mutation	SNP	ENST00000247815.4	37	c.835C>T	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834251	0.71373	.	.	ENSG00000127311	ENST00000247815	.	.	.	6.17	5.28	0.74379	.	0.063541	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.0315	16.6595	0.85237	0.0:0.7557:0.2443:0.0	.	.	.	.	X	279	.	.	Q	+	1	0	HELB	64989810	0.997000	0.39634	0.977000	0.42913	0.018000	0.09664	3.346000	0.52190	1.604000	0.50143	0.655000	0.94253	CAG		0.383	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			35	142	0	0	0	1	0	35	142				
XIRP2	129446	broad.mit.edu	37	2	168108369	168108369	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:168108369A>T	ENST00000409195.1	+	9	10556	c.10467A>T	c.(10465-10467)agA>agT	p.R3489S	XIRP2_ENST00000409273.1_Missense_Mutation_p.R3267S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R3489S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3314					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAGTGGAAGAGTTTTTAAAG	0.393																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(10465-10467)agA>agT		xin actin-binding repeat containing 2							61.0	62.0	62.0					2																	168108369		1845	4077	5922	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168108369A>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.10467A>T	2.37:g.168108369A>T	ENSP00000386840:p.Arg3489Ser					XIRP2_ENST00000409273.1_Missense_Mutation_p.R3267S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R3489S|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	p.R3489S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	10556	+			3314					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.10467A>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	2.749	-0.260412	0.05791	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02737	4.18;4.18;4.18	6.16	-3.88	0.04205	.	0.259745	0.44902	N	0.000418	T	0.02380	0.0073	L	0.54323	1.7	0.22253	N	0.999252	B;B;B	0.20052	0.013;0.023;0.041	B;B;B	0.14578	0.005;0.011;0.011	T	0.37731	-0.9693	10	0.44086	T	0.13	-1.0484	2.4307	0.04470	0.3252:0.3312:0.2431:0.1005	.	3314;3314;3267	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	S	3489;3489;3267;903	ENSP00000386840:R3489S;ENSP00000295237:R3489S;ENSP00000387255:R3267S	ENSP00000295237:R3489S	R	+	3	2	XIRP2	167816615	0.151000	0.22747	0.000000	0.03702	0.288000	0.27193	0.030000	0.13688	-0.587000	0.05890	-1.159000	0.01794	AGA		0.393	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		8	82	0	0	0	1	0	8	82				
RELN	5649	broad.mit.edu	37	7	103417017	103417017	+	Silent	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr7:103417017C>T	ENST00000428762.1	-	4	690	c.531G>A	c.(529-531)ttG>ttA	p.L177L	RELN_ENST00000343529.5_Silent_p.L177L|RELN_ENST00000424685.2_Silent_p.L177L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	177	Reelin. {ECO:0000255|PROSITE- ProRule:PRU00363}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTTGTTCACACAACTGCTGGG	0.398																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(529-531)ttG>ttA		reelin							134.0	124.0	127.0					7																	103417017		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103417017C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.531G>A	7.37:g.103417017C>T						RELN_ENST00000428762.1_Silent_p.L177L|RELN_ENST00000343529.5_Silent_p.L177L	p.L177L			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	4	690	-			177			Reelin.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.531G>A	CCDS47680.1																																																																																				0.398	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		13	115	0	0	0	1	0	13	115				
PRB4	5545	broad.mit.edu	37	12	11461265	11461265	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:11461265C>T	ENST00000535904.1	-	3	685	c.652G>A	c.(652-654)Gca>Aca	p.A218T	PRB4_ENST00000279575.1_Missense_Mutation_p.A218T|PRB4_ENST00000445719.2_Missense_Mutation_p.A149T			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	0	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GCAGGAGGTGCCTGAGGCTGC	0.642										HNSCC(22;0.051)																												ENST00000279575.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						c.(652-654)Gca>Aca		proline-rich protein BstNI subfamily 4							98.0	110.0	106.0					12																	11461265		2203	4300	6503	SO:0001583	missense	5545					extracellular region		g.chr12:11461265C>T		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.652G>A	12.37:g.11461265C>T	ENSP00000442834:p.Ala218Thr	HNSCC(22;0.051)				PRB4_ENST00000445719.2_Missense_Mutation_p.A149T|PRB4_ENST00000535904.1_Missense_Mutation_p.A218T	p.A218T	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN			3	685	-			281			9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	c.652G>A	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	2.411	-0.335316	0.05278	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.04551	3.6;3.6;3.6	1.11	-2.19	0.07015	.	.	.	.	.	T	0.04137	0.0115	L	0.38175	1.15	0.09310	N	1	B	0.19935	0.04	B	0.11329	0.006	T	0.39921	-0.9590	9	0.29301	T	0.29	.	8.7473	0.34594	0.0:0.7023:0.2977:0.0	.	218	E9PAL0	.	T	218;218;149	ENSP00000279575:A218T;ENSP00000442834:A218T;ENSP00000412740:A149T	ENSP00000279575:A218T	A	-	1	0	PRB4	11352532	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.423000	0.00476	-1.233000	0.02551	-2.048000	0.00412	GCA		0.642	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		77	286	0	0	0	1	0	77	286				
SLC5A8	160728	broad.mit.edu	37	12	101584334	101584334	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:101584334C>G	ENST00000536262.2	-	6	1303	c.745G>C	c.(745-747)Ggg>Cgg	p.G249R		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTGAAGGTCCCTCCTATAATA	0.393																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(745-747)Ggg>Cgg		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							131.0	126.0	128.0					12																	101584334		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101584334C>G	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.745G>C	12.37:g.101584334C>G	ENSP00000445340:p.Gly249Arg						p.G249R	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			6	1303	-			249						Missense_Mutation	SNP	ENST00000536262.2	37	c.745G>C	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679094	0.88542	.	.	ENSG00000256870	ENST00000536262	D	0.97906	-4.6	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.99284	0.9750	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98776	1.0730	10	0.87932	D	0	.	20.1739	0.98173	0.0:1.0:0.0:0.0	.	249	Q8N695	SC5A8_HUMAN	R	249	ENSP00000445340:G249R	ENSP00000445340:G249R	G	-	1	0	SLC5A8	100108465	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	7.463000	0.80869	2.774000	0.95407	0.585000	0.79938	GGG		0.393	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		6	89	0	0	0	1	0	6	89				
ANKRD30BP3	338579	broad.mit.edu	37	10	45652280	45652280	+	RNA	SNP	C	C	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr10:45652280C>G	ENST00000427229.2	+	0	1794																											GAAAGAACACCTGACATGGCT	0.463																																						ENST00000427229.2																			0																																																			338579							g.chr10:45652280C>G																													10.37:g.45652280C>G														0	1794	+									RNA	SNP	ENST00000427229.2	37																																																																																						0.463	RP11-445N18.7-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000470688.1			7	26	0	0	0	1	0	7	26				
IQCJ	654502	broad.mit.edu	37	3	158983040	158983040	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:158983040A>T	ENST00000451172.1	+	5	433	c.328A>T	c.(328-330)Atc>Ttc	p.I110F	IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ_ENST00000482126.1_Missense_Mutation_p.I83F	NM_001042705.2	NP_001036170.1	Q1A5X6	IQCJ_HUMAN	IQ motif containing J	110										cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			TCATCCTTACATCTCTTGGAG	0.468																																						ENST00000482126.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15						c.(247-249)Atc>Ttc		IQ motif containing J							145.0	144.0	144.0					3																	158983040		1909	4121	6030	SO:0001583	missense	654502							g.chr3:158983040A>T	DQ309553, DQ309554	CCDS46946.1, CCDS46947.1, CCDS56290.1	3q25.32	2011-03-24			ENSG00000214216	ENSG00000214216			32406	protein-coding gene	gene with protein product		611622				17045569	Standard	NM_001042705		Approved			Q1A5X6	OTTHUMG00000166440	ENST00000451172.1:c.328A>T	3.37:g.158983040A>T	ENSP00000402153:p.Ile110Phe					IQCJ_ENST00000451172.1_Missense_Mutation_p.I110F|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron	p.I83F	NM_001197100.1	NP_001184029.1			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)		4	352	+								B7ZMM2|B9EH97|Q1A5X5	Missense_Mutation	SNP	ENST00000451172.1	37	c.247A>T	CCDS46946.1	.	.	.	.	.	.	.	.	.	.	A	8.995	0.978765	0.18812	.	.	ENSG00000214216	ENST00000451172;ENST00000482126	.	.	.	3.39	-3.43	0.04810	.	0.541616	0.14658	U	0.306157	T	0.17365	0.0417	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.10706	-1.0618	9	0.87932	D	0	.	1.4618	0.02397	0.4346:0.1426:0.2856:0.1371	.	83;110	B7ZMM2;Q1A5X6	.;IQCJ_HUMAN	F	110;83	.	ENSP00000402153:I110F	I	+	1	0	IQCJ	160465734	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.297000	0.08276	-1.230000	0.02561	-3.336000	0.00043	ATC		0.468	IQCJ-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352395.1	NM_001042705.1		30	220	0	0	0	1	0	30	220				
HEXA	3073	broad.mit.edu	37	15	72668115	72668115	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr15:72668115G>A	ENST00000268097.5	-	1	702	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	HEXA_ENST00000457859.2_5'UTR|HEXA_ENST00000567159.1_Missense_Mutation_p.R67C|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567213.1_5'UTR|HEXA_ENST00000566304.1_Missense_Mutation_p.R67C|HEXA_ENST00000429918.2_5'UTR|HEXA-AS1_ENST00000567598.1_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	67					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						TCACGATAGCGCTGGAAGGCC	0.617																																						ENST00000268097.5																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						c.(199-201)Cgc>Tgc		hexosaminidase A (alpha polypeptide)							115.0	125.0	122.0					15																	72668115		2199	4297	6496	SO:0001583	missense	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72668115G>A	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.199C>T	15.37:g.72668115G>A	ENSP00000268097:p.Arg67Cys					HEXA_ENST00000429918.2_5'UTR|HEXA_ENST00000567159.1_Missense_Mutation_p.R67C|HEXA_ENST00000566304.1_Missense_Mutation_p.R67C|HEXA_ENST00000457859.2_5'UTR|HEXA_ENST00000567213.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA	p.R67C	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN			1	702	-			67					B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	c.199C>T	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829334	0.90955	.	.	ENSG00000213614	ENST00000268097	D	0.91180	-2.8	4.72	4.72	0.59763	Acetylhexosaminidase, subunit a/b (1);	0.000000	0.85682	D	0.000000	D	0.96207	0.8763	M	0.93594	3.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96798	0.9587	10	0.87932	D	0	-18.4021	13.0444	0.58918	0.0:0.0:1.0:0.0	.	67;67	B4DVA7;P06865	.;HEXA_HUMAN	C	67	ENSP00000268097:R67C	ENSP00000268097:R67C	R	-	1	0	HEXA	70455169	0.998000	0.40836	0.960000	0.40013	0.895000	0.52256	4.229000	0.58625	2.450000	0.82876	0.650000	0.86243	CGC		0.617	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		45	248	0	0	0	1	0	45	248				
GNAZ	2781	broad.mit.edu	37	22	23438130	23438130	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr22:23438130G>T	ENST00000248996.4	+	2	914	c.248G>T	c.(247-249)cGc>cTc	p.R83L	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	83					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TCGCTGACCCGCATCATCCGG	0.622																																						ENST00000248996.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(247-249)cGc>cTc		guanine nucleotide binding protein (G protein), alpha z polypeptide							146.0	152.0	150.0					22																	23438130		2203	4300	6503	SO:0001583	missense	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23438130G>T		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.248G>T	22.37:g.23438130G>T	ENSP00000248996:p.Arg83Leu					RTDR1_ENST00000216036.4_Intron	p.R83L	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	914	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		83					B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	37	c.248G>T	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592794	0.66219	.	.	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.87729	-2.29	4.81	4.81	0.61882	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	T	0.68833	0.3044	N	0.01091	-1.02	0.80722	D	1	P	0.36959	0.575	B	0.32624	0.149	T	0.78450	-0.2199	10	0.87932	D	0	.	17.2498	0.87039	0.0:0.0:1.0:0.0	.	83	P19086	GNAZ_HUMAN	L	83;31	ENSP00000248996:R83L	ENSP00000248996:R83L	R	+	2	0	GNAZ	21768130	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.590000	0.82653	2.387000	0.81309	0.561000	0.74099	CGC		0.622	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		66	334	1	0	6.2918e-36	1	7.7807e-36	66	334				
ARNTL	406	broad.mit.edu	37	11	13391307	13391307	+	Silent	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:13391307G>A	ENST00000403290.1	+	12	1168	c.813G>A	c.(811-813)aaG>aaA	p.K271K	ARNTL_ENST00000403482.3_Silent_p.K269K|ARNTL_ENST00000389708.3_Silent_p.K271K|ARNTL_ENST00000401424.1_Silent_p.K228K|ARNTL_ENST00000403510.3_Silent_p.K228K|ARNTL_ENST00000389707.4_Silent_p.K271K|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000396441.3_Silent_p.K271K|ARNTL_ENST00000361003.4_Silent_p.K271K			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	271					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.K271N(1)		breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		CCTGCTCAAAGAAAAAAGGTA	0.458																																						ENST00000389708.3																			1	Substitution - Missense(1)	p.K271N(1)	large_intestine(1)	breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20						c.(811-813)aaG>aaA		aryl hydrocarbon receptor nuclear translocator-like							97.0	91.0	93.0					11																	13391307		2200	4294	6494	SO:0001819	synonymous_variant	406				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr11:13391307G>A	D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.813G>A	11.37:g.13391307G>A						ARNTL_ENST00000361003.4_Silent_p.K271K|ARNTL_ENST00000403290.1_Silent_p.K271K|ARNTL_ENST00000401424.1_Silent_p.K228K|ARNTL_ENST00000403510.3_Silent_p.K228K|ARNTL_ENST00000389707.4_Silent_p.K271K|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000403482.3_Silent_p.K269K|ARNTL_ENST00000396441.3_Silent_p.K271K	p.K271K			O00327	BMAL1_HUMAN		Epithelial(150;0.0243)	12	1168	+			271					A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Silent	SNP	ENST00000403290.1	37	c.813G>A																																																																																					0.458	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178		5	92	0	0	0	1	0	5	92				
REST	5978	broad.mit.edu	37	4	57796372	57796372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr4:57796372C>T	ENST00000309042.7	+	4	1662	c.1348C>T	c.(1348-1350)Caa>Taa	p.Q450*		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	450	Lys-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AGAAATAGAACAAACAAAAAT	0.323																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(1348-1350)Caa>Taa		RE1-silencing transcription factor							33.0	37.0	35.0					4																	57796372		2200	4297	6497	SO:0001587	stop_gained	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57796372C>T	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1348C>T	4.37:g.57796372C>T	ENSP00000311816:p.Gln450*						p.Q450*	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			4	1662	+	Glioma(25;0.08)|all_neural(26;0.181)		450			Lys-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Nonsense_Mutation	SNP	ENST00000309042.7	37	c.1348C>T	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	C	35	5.423760	0.96111	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	.	.	.	5.88	5.02	0.67125	.	0.396852	0.23999	N	0.042500	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-8.8308	15.4628	0.75373	0.1555:0.8445:0.0:0.0	.	.	.	.	X	450;450;427	.	ENSP00000311816:Q450X	Q	+	1	0	REST	57491129	0.983000	0.35010	0.938000	0.37757	0.179000	0.23085	2.423000	0.44705	1.415000	0.47037	0.561000	0.74099	CAA		0.323	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		23	57	0	0	0	1	0	23	57				
FRG1B	284802	broad.mit.edu	37	20	29628233	29628233	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr20:29628233A>G	ENST00000278882.3	+	6	615	c.235A>G	c.(235-237)Atg>Gtg	p.M79V	FRG1B_ENST00000439954.2_Missense_Mutation_p.M84V|FRG1B_ENST00000358464.4_Missense_Mutation_p.M79V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	79										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTAGGGGAAAATGGCTTTGTT	0.363																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(235-237)Atg>Gtg																																						SO:0001583	missense	284802							g.chr20:29628233A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.235A>G	20.37:g.29628233A>G	ENSP00000278882:p.Met79Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.M79V|FRG1B_ENST00000439954.2_Missense_Mutation_p.M84V	p.M79V							6	615	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.235A>G		.	.	.	.	.	.	.	.	.	.	a	3.138	-0.176853	0.06380	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.41065	1.01	2.08	2.08	0.27032	Actin cross-linking (1);	0.040228	0.85682	D	0.000000	T	0.23370	0.0565	.	.	.	0.41063	D	0.985397	B;B	0.17852	0.002;0.024	B;B	0.25140	0.03;0.058	T	0.04593	-1.0940	9	0.11794	T	0.64	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	84;79	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	79;84;79	ENSP00000408863:M84V	ENSP00000278882:M79V	M	+	1	0	FRG1B	28241894	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	4.813000	0.62620	1.208000	0.43306	0.347000	0.21830	ATG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	236	0	0	0	1	0	4	236				
PRSS53	339105	broad.mit.edu	37	16	31098884	31098884	+	Silent	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr16:31098884G>A	ENST00000280606.6	-	3	369	c.216C>T	c.(214-216)gtC>gtT	p.V72V	RP11-196G11.1_ENST00000529564.1_Silent_p.V147V	NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	72	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						CAGCAGTGAGGACCCAGGTGT	0.622																																						ENST00000280606.6																			0				large_intestine(1)|lung(3)	4						c.(214-216)gtC>gtT		protease, serine, 53							23.0	29.0	27.0					16																	31098884		2095	4249	6344	SO:0001819	synonymous_variant	339105				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:31098884G>A		CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"""Serine peptidases / Serine peptidases"""	34407	protein-coding gene	gene with protein product	"""polyserase 3"""	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.216C>T	16.37:g.31098884G>A						RP11-196G11.1_ENST00000529564.1_Silent_p.V147V	p.V72V	NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN			3	369	-			72			Peptidase S1 1.			Silent	SNP	ENST00000280606.6	37	c.216C>T	CCDS42153.1																																																																																				0.622	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108580.4	NM_001081268		5	22	0	0	0	1	0	5	22				
TAP2	6891	broad.mit.edu	37	6	32798443	32798443	+	Silent	SNP	T	T	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr6:32798443T>C	ENST00000452392.2	-	8	1586	c.1413A>G	c.(1411-1413)caA>caG	p.Q471Q	TAP2_ENST00000374897.2_Silent_p.Q471Q|TAP2_ENST00000485701.1_5'Flank|TAP2_ENST00000374899.4_Silent_p.Q471Q			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	24						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	AGGAGACGTCTTGGAATTTCA	0.552																																						ENST00000374897.2																			0											c.(1411-1413)caA>caG		transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)							72.0	65.0	67.0					6																	32798443		1511	2709	4220	SO:0001819	synonymous_variant	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32798443T>C	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1413A>G	6.37:g.32798443T>C						TAP2_ENST00000374899.4_Silent_p.Q471Q|TAP2_ENST00000452392.2_Silent_p.Q471Q	p.Q471Q	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN			8	1544	-			471			ABC transporter.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	ENST00000452392.2	37	c.1413A>G																																																																																					0.552	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544		8	53	0	0	0	1	0	8	53				
CUBN	8029	broad.mit.edu	37	10	17126399	17126399	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr10:17126399C>A	ENST00000377833.4	-	17	2237	c.2172G>T	c.(2170-2172)ttG>ttT	p.L724F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	724	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGGCCCAGACAACTCAGGCA	0.527																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(2170-2172)ttG>ttT		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						107.0	90.0	96.0					10																	17126399		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17126399C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2172G>T	10.37:g.17126399C>A	ENSP00000367064:p.Leu724Phe						p.L724F	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			17	2237	-			724			CUB 3.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.2172G>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	7.819	0.717462	0.15372	.	.	ENSG00000107611	ENST00000377833	T	0.15139	2.45	5.69	4.77	0.60923	CUB (5);	0.467337	0.16005	N	0.234105	T	0.12475	0.0303	N	0.11000	0.08	0.80722	D	1	B	0.22800	0.075	B	0.27076	0.076	T	0.11567	-1.0582	10	0.40728	T	0.16	.	16.1963	0.82029	0.0:0.8664:0.1336:0.0	.	724	O60494	CUBN_HUMAN	F	724	ENSP00000367064:L724F	ENSP00000367064:L724F	L	-	3	2	CUBN	17166405	1.000000	0.71417	0.160000	0.22671	0.300000	0.27592	4.580000	0.60942	1.355000	0.45865	0.655000	0.94253	TTG		0.527	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		10	27	1	0	0.000442599	1	0.000465592	10	27				
DMBT1	1755	broad.mit.edu	37	10	124345706	124345706	+	Silent	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr10:124345706G>T	ENST00000338354.3	+	16	1696	c.1590G>T	c.(1588-1590)gtG>gtT	p.V530V	DMBT1_ENST00000368909.3_Silent_p.V530V|DMBT1_ENST00000344338.3_Silent_p.V520V|DMBT1_ENST00000368955.3_Silent_p.V520V|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	530	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATGCCAATGTGGTCTGCAGGC	0.612																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(1588-1590)gtG>gtT		deleted in malignant brain tumors 1							274.0	211.0	231.0					10																	124345706		2054	4179	6233	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124345706G>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.1590G>T	10.37:g.124345706G>T						DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Silent_p.V520V|DMBT1_ENST00000368955.3_Silent_p.V520V|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Silent_p.V530V	p.V530V	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			16	1696	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	530			SRCR 4.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.1590G>T																																																																																					0.612	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		89	651	1	0	2.63401e-43	1	3.30783e-43	89	651				
CNDP1	84735	broad.mit.edu	37	18	72229309	72229309	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr18:72229309A>G	ENST00000358821.3	+	5	722	c.494A>G	c.(493-495)gAc>gGc	p.D165G	CNDP1_ENST00000585136.1_3'UTR|RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000582365.1_Missense_Mutation_p.D122G	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	165						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GGAGCGACCGACAACAAAGGC	0.507																																					Melanoma(32;1029 1042 25286 38395 44237)	ENST00000582365.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(364-366)gAc>gGc		carnosine dipeptidase 1 (metallopeptidase M20 family)							141.0	124.0	129.0					18																	72229309		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72229309A>G		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.494A>G	18.37:g.72229309A>G	ENSP00000351682:p.Asp165Gly					RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000358821.3_Missense_Mutation_p.D165G|CNDP1_ENST00000585136.1_3'UTR	p.D122G			Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	4	431	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	165					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.365A>G	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.346371	0.24426	.	.	ENSG00000150656	ENST00000358821	T	0.48836	0.8	4.72	4.72	0.59763	ArgE/DapE/ACY1/CPG2/YscS, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.80854	0.4703	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88425	0.3031	10	0.87932	D	0	-18.4415	13.8698	0.63612	1.0:0.0:0.0:0.0	.	165	Q96KN2	CNDP1_HUMAN	G	165	ENSP00000351682:D165G	ENSP00000351682:D165G	D	+	2	0	CNDP1	70380289	1.000000	0.71417	0.992000	0.48379	0.192000	0.23643	8.331000	0.90022	1.754000	0.51921	0.402000	0.26972	GAC		0.507	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		8	45	0	0	0	1	0	8	45				
TRPS1	7227	broad.mit.edu	37	8	116427276	116427276	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr8:116427276C>G	ENST00000220888.5	-	6	2980	c.2821G>C	c.(2821-2823)Ggt>Cgt	p.G941R	TRPS1_ENST00000520276.1_Missense_Mutation_p.G945R|TRPS1_ENST00000519076.1_Missense_Mutation_p.G695R|TRPS1_ENST00000395715.3_Missense_Mutation_p.G954R			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	941					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATCTGCTCACCGTTGTTTTGT	0.403									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(2860-2862)Ggt>Cgt		trichorhinophalangeal syndrome I							121.0	116.0	118.0					8																	116427276		1896	4117	6013	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116427276C>G	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2821G>C	8.37:g.116427276C>G	ENSP00000220888:p.Gly941Arg					TRPS1_ENST00000519076.1_Missense_Mutation_p.G695R|TRPS1_ENST00000520276.1_Missense_Mutation_p.G945R|TRPS1_ENST00000220888.5_Missense_Mutation_p.G941R	p.G954R	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		7	3437	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		941					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.2860G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.86|16.86	3.238024|3.238024	0.58886|0.58886	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276|ENST00000518018	D;D;D;D|.	0.98531|.	-4.98;-4.95;-4.93;-4.95|.	5.58|5.58	4.69|4.69	0.59074|0.59074	Zinc finger, GATA-type (1);|.	0.109709|.	0.64402|.	D|.	0.000008|.	T|T	0.52108|0.52108	0.1714|0.1714	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.47674|0.47674	-0.9099|-0.9099	10|5	0.87932|.	D|.	0|.	.|.	15.7261|15.7261	0.77761|0.77761	0.1378:0.8622:0.0:0.0|0.1378:0.8622:0.0:0.0	.|.	945;941;954|.	Q9UHF7-3;Q9UHF7;Q9UHF7-2|.	.;TRPS1_HUMAN;.|.	R|P	954;941;695;945|65	ENSP00000379065:G954R;ENSP00000220888:G941R;ENSP00000428910:G695R;ENSP00000428680:G945R|.	ENSP00000220888:G941R|.	G|R	-|-	1|2	0|0	TRPS1|TRPS1	116496452|116496452	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.484000|7.484000	0.81180|0.81180	1.332000|1.332000	0.45431|0.45431	0.655000|0.655000	0.94253|0.94253	GGT|CGG		0.403	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		24	185	0	0	0	1	0	24	185				
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	RNA	SNP	T	T	C	rs374686280		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr7:142481789T>C	ENST00000603901.1	+	0	468					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ACTACCCAGATGAGCTGCAGT	0.488																																						ENST00000603901.1																			0																																																			154754							g.chr7:142481789T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481789T>C								NR_001296.3						0	468	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.488	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	156	0	0	0	1	0	4	156				
SPATA31C1	441452	broad.mit.edu	37	9	90535283	90535283	+	RNA	SNP	T	T	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr9:90535283T>C	ENST00000602681.1	+	0	1187							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CATGAGCCTATGGAAGATGCT	0.582																																						ENST00000602681.1																			0																				108.0	115.0	113.0					9																	90535283		692	1591	2283			441452							g.chr9:90535283T>C	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535283T>C														0	1187	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.582	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		7	367	0	0	0	1	0	7	367				
DLG1	1739	broad.mit.edu	37	3	196842858	196842858	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:196842858G>C	ENST00000419354.1	-	14	1768	c.1482C>G	c.(1480-1482)atC>atG	p.I494M	DLG1_ENST00000450955.1_Missense_Mutation_p.I461M|DLG1_ENST00000392382.2_Missense_Mutation_p.I461M|DLG1_ENST00000448528.2_Missense_Mutation_p.I494M|DLG1_ENST00000422288.1_Missense_Mutation_p.I443M|DLG1_ENST00000357674.4_Missense_Mutation_p.I461M|DLG1_ENST00000443183.1_Missense_Mutation_p.I378M|DLG1_ENST00000346964.2_Missense_Mutation_p.I494M|DLG1_ENST00000452595.1_Missense_Mutation_p.I378M|DLG1_ENST00000314062.3_Missense_Mutation_p.I443M			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	494	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CTCCGGCTAAGATAAAGGAAA	0.408																																						ENST00000346964.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(1480-1482)atC>atG		discs, large homolog 1 (Drosophila)							119.0	118.0	118.0					3																	196842858		2203	4300	6503	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196842858G>C	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.1482C>G	3.37:g.196842858G>C	ENSP00000407531:p.Ile494Met					DLG1_ENST00000357674.4_Missense_Mutation_p.I461M|DLG1_ENST00000314062.3_Missense_Mutation_p.I443M|DLG1_ENST00000392382.2_Missense_Mutation_p.I461M|DLG1_ENST00000422288.1_Missense_Mutation_p.I443M|DLG1_ENST00000443183.1_Missense_Mutation_p.I378M|DLG1_ENST00000419354.1_Missense_Mutation_p.I494M|DLG1_ENST00000450955.1_Missense_Mutation_p.I461M|DLG1_ENST00000452595.1_Missense_Mutation_p.I378M|DLG1_ENST00000448528.2_Missense_Mutation_p.I494M	p.I494M	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	14	1671	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	494			PDZ 3.		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.1482C>G	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504274	0.64410	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955	T;T;T;T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.62	0.26	0.15588	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	M	0.86343	2.81	0.51012	D	0.999906	D;D;P;D;D;D;D	0.89917	1.0;1.0;0.942;0.996;1.0;1.0;1.0	D;D;P;D;D;D;D	0.91635	0.991;0.998;0.829;0.98;0.986;0.999;0.986	T	0.68096	-0.5499	10	0.87932	D	0	.	4.6959	0.12804	0.2228:0.0:0.3636:0.4136	.	461;378;378;378;461;494;494	Q12959-4;E9PG21;E7EWL7;B4DGU1;Q12959-3;Q12959;Q12959-2	.;.;.;.;.;DLG1_HUMAN;.	M	494;494;461;494;443;494;378;443;494;378;461;461	ENSP00000345731:I494M;ENSP00000350303:I461M;ENSP00000321087:I443M;ENSP00000407531:I494M;ENSP00000398939:I378M;ENSP00000413238:I443M;ENSP00000391732:I494M;ENSP00000396658:I378M;ENSP00000376187:I461M;ENSP00000411278:I461M	ENSP00000321087:I443M	I	-	3	3	DLG1	198327255	0.992000	0.36948	0.993000	0.49108	0.995000	0.86356	0.192000	0.17096	-0.210000	0.10140	0.591000	0.81541	ATC		0.408	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		19	162	0	0	0	1	0	19	162				
PTK2	5747	broad.mit.edu	37	8	141874446	141874446	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr8:141874446C>T	ENST00000522684.1	-	5	644	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	PTK2_ENST00000535192.1_Missense_Mutation_p.E139K|PTK2_ENST00000521059.1_Missense_Mutation_p.E139K|PTK2_ENST00000517887.1_Missense_Mutation_p.E183K|PTK2_ENST00000395218.2_Missense_Mutation_p.E139K|PTK2_ENST00000340930.3_Missense_Mutation_p.E139K|PTK2_ENST00000519419.1_Missense_Mutation_p.E183K	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	139	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GGCTTATCTTCAGTAAACTGG	0.274																																						ENST00000522684.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(415-417)Gaa>Aaa		protein tyrosine kinase 2							73.0	81.0	78.0					8																	141874446		2199	4293	6492	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141874446C>T	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.415G>A	8.37:g.141874446C>T	ENSP00000429911:p.Glu139Lys					PTK2_ENST00000395218.2_Missense_Mutation_p.E139K|PTK2_ENST00000517887.1_Missense_Mutation_p.E183K|PTK2_ENST00000340930.3_Missense_Mutation_p.E139K|PTK2_ENST00000519419.1_Missense_Mutation_p.E183K|PTK2_ENST00000535192.1_Missense_Mutation_p.E139K|PTK2_ENST00000521059.1_Missense_Mutation_p.E139K	p.E139K	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		5	644	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	139			FERM.		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.415G>A	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584399	0.46110	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000340930;ENST00000519419;ENST00000520828;ENST00000520475	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.27	5.27	0.74061	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	T	0.30293	0.0760	N	0.17922	0.545	0.80722	D	1	B;B;B;B;B;B	0.26120	0.032;0.001;0.142;0.002;0.015;0.002	B;B;B;B;B;B	0.25614	0.024;0.004;0.062;0.017;0.015;0.012	T	0.07481	-1.0770	10	0.18276	T	0.48	.	17.6794	0.88238	0.0:1.0:0.0:0.0	.	139;46;139;161;139;50	B4E2N6;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6	.;.;FAK1_HUMAN;.;.;.	K	139;139;183;139;49;139;46;139;183;38;139	ENSP00000429911:E139K;ENSP00000438009:E139K;ENSP00000429082:E183K;ENSP00000429474:E139K;ENSP00000378644:E139K;ENSP00000341189:E139K;ENSP00000429129:E183K;ENSP00000427762:E38K;ENSP00000428792:E139K	ENSP00000341189:E139K	E	-	1	0	PTK2	141943628	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.187000	0.58344	2.475000	0.83589	0.313000	0.20887	GAA		0.274	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		41	82	0	0	0	1	0	41	82				
CCDC15	80071	broad.mit.edu	37	11	124857643	124857643	+	Missense_Mutation	SNP	G	G	T	rs183310714		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:124857643G>T	ENST00000344762.5	+	8	1780	c.1521G>T	c.(1519-1521)caG>caT	p.Q507H	CCDC15_ENST00000529051.1_Missense_Mutation_p.Q507H	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	507						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CTAAGGACCAGAATTTTTTGT	0.388																																						ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1519-1521)caG>caT		coiled-coil domain containing 15							143.0	138.0	140.0					11																	124857643		1813	4072	5885	SO:0001583	missense	80071					centrosome		g.chr11:124857643G>T	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1521G>T	11.37:g.124857643G>T	ENSP00000341684:p.Gln507His					CCDC15_ENST00000344762.5_Missense_Mutation_p.Q507H	p.Q507H			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1780	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	507					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.1521G>T	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	G	6.525	0.465172	0.12402	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.34072	1.38;1.41	3.72	0.367	0.16140	.	0.404895	0.18296	N	0.145561	T	0.29458	0.0734	L	0.57536	1.79	0.09310	N	1	B	0.18013	0.025	B	0.15052	0.012	T	0.26780	-1.0093	10	0.72032	D	0.01	-0.271	5.413	0.16358	0.2218:0.1658:0.6125:0.0	.	507	Q0P6D6	CCD15_HUMAN	H	507	ENSP00000435403:Q507H;ENSP00000341684:Q507H	ENSP00000341684:Q507H	Q	+	3	2	CCDC15	124362853	0.000000	0.05858	0.004000	0.12327	0.082000	0.17680	0.474000	0.22148	0.004000	0.14682	0.391000	0.25812	CAG		0.388	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		61	293	1	0	2.53126e-37	1	3.15434e-37	61	293				
SOS1	6654	broad.mit.edu	37	2	39237832	39237832	+	Silent	SNP	T	T	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:39237832T>C	ENST00000426016.1	-	16	2489	c.2403A>G	c.(2401-2403)ccA>ccG	p.P801P	SOS1_ENST00000395038.2_Silent_p.P801P|SOS1_ENST00000402219.2_Silent_p.P801P			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	801	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CTAATTCTGATGGCTGTACAG	0.323									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(2401-2403)ccA>ccG		son of sevenless homolog 1 (Drosophila)							102.0	101.0	101.0					2																	39237832		2203	4300	6503	SO:0001819	synonymous_variant	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39237832T>C	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.2403A>G	2.37:g.39237832T>C						SOS1_ENST00000395038.2_Silent_p.P801P|SOS1_ENST00000402219.2_Silent_p.P801P	p.P801P			Q07889	SOS1_HUMAN			16	2489	-		all_hematologic(82;0.21)	801			Ras-GEF.		A8K2G3|B4DXG2	Silent	SNP	ENST00000426016.1	37	c.2403A>G	CCDS1802.1																																																																																				0.323	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		4	42	0	0	0	1	0	4	42				
TSSC2	650368	broad.mit.edu	37	11	3427830	3427830	+	RNA	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:3427830G>A	ENST00000529482.1	+	0	947									tumor suppressing subtransferable candidate 2 pseudogene																		TGTGTGTGCCGTGAACTTCAA	0.582																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427830G>A			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427830G>A														0	947	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.582	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	76	0	0	0	1	0	5	76				
DMBT1	1755	broad.mit.edu	37	10	124358528	124358528	+	Missense_Mutation	SNP	C	C	A	rs572813390		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr10:124358528C>A	ENST00000338354.3	+	26	3301	c.3195C>A	c.(3193-3195)caC>caA	p.H1065Q	DMBT1_ENST00000368909.3_Missense_Mutation_p.H1065Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.H1055Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.H1055Q|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.H566Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.H566Q			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1065	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTCAGGACACGAGTCTTACC	0.597																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(3193-3195)caC>caA		deleted in malignant brain tumors 1							120.0	117.0	118.0					10																	124358528		1965	4151	6116	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124358528C>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.3195C>A	10.37:g.124358528C>A	ENSP00000342210:p.His1065Gln					DMBT1_ENST00000330163.4_Missense_Mutation_p.H566Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.H566Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.H1055Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.H1055Q|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.H1065Q	p.H1065Q	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			26	3301	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1065			SRCR 8.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.3195C>A		.	.	.	.	.	.	.	.	.	.	c	1.283	-0.609818	0.03690	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	3.57	-7.15	0.01521	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.342460	0.05579	N	0.572479	T	0.16896	0.0406	N	0.17922	0.545	0.80722	D	1	B;P;B;B;B	0.44478	0.026;0.836;0.017;0.005;0.006	B;B;B;B;B	0.36186	0.017;0.219;0.019;0.01;0.017	T	0.45145	-0.9281	10	0.13470	T	0.59	.	2.7107	0.05174	0.0957:0.2007:0.2839:0.4197	.	572;1065;566;1055;1065	Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	Q	1065;1065;1065;1065;1065;1065;566;1055;566;566;1065;1055;566	ENSP00000342210:H1065Q;ENSP00000343175:H1055Q;ENSP00000327747:H566Q;ENSP00000357905:H1065Q;ENSP00000357951:H1055Q;ENSP00000357952:H566Q	ENSP00000331522:H566Q	H	+	3	2	DMBT1	124348518	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-11.251000	0.00004	-1.570000	0.01665	-0.220000	0.12472	CAC		0.597	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		28	176	1	0	8.24728e-16	1	9.68159e-16	28	176				
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:7578403C>T	ENST00000269305.4	-	5	716	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000420246.2_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGTGGGGGCAGCGCCTCAC	0.652		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(526-528)tGc>tAc	Other conserved DNA damage response genes	tumor protein p53							49.0	49.0	49.0					17																	7578403		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578403C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.527G>A	17.37:g.7578403C>T	ENSP00000269305:p.Cys176Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000269305.4_Missense_Mutation_p.C176Y	p.C176Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	659	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	176		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.527G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497871	0.85069	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.996;0.997;0.998;0.998;0.997;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176Y;ENSP00000352610:C176Y;ENSP00000269305:C176Y;ENSP00000398846:C176Y;ENSP00000391127:C176Y;ENSP00000391478:C176Y;ENSP00000425104:C44Y;ENSP00000423862:C83Y	ENSP00000269305:C176Y	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	74	0	0	0	1	0	15	74				
NFE2	4778	broad.mit.edu	37	12	54686719	54686719	+	Silent	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:54686719G>A	ENST00000540264.2	-	2	1070	c.561C>T	c.(559-561)aaC>aaT	p.N187N	RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Silent_p.N187N|NFE2_ENST00000312156.4_Silent_p.N187N|NFE2_ENST00000435572.2_Silent_p.N187N			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	187	Transactivation domain.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GGGCCAAGGAGTTGGGCATGA	0.607																																						ENST00000540264.2																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						c.(559-561)aaC>aaT		nuclear factor, erythroid 2							87.0	82.0	84.0					12																	54686719		2203	4300	6503	SO:0001819	synonymous_variant	4778				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding	g.chr12:54686719G>A	BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.561C>T	12.37:g.54686719G>A						RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Silent_p.N187N|NFE2_ENST00000435572.2_Silent_p.N187N|NFE2_ENST00000312156.4_Silent_p.N187N	p.N187N			Q16621	NFE2_HUMAN			2	1070	-			187			Transactivation domain.		Q07720|Q6ICV9	Silent	SNP	ENST00000540264.2	37	c.561C>T	CCDS8876.1																																																																																				0.607	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1	NM_006163		20	117	0	0	0	1	0	20	117				
TBC1D32	221322	broad.mit.edu	37	6	121427176	121427176	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr6:121427176G>T	ENST00000398212.2	-	30	3507	c.3458C>A	c.(3457-3459)cCa>cAa	p.P1153Q	TBC1D32_ENST00000275159.6_Missense_Mutation_p.P1194Q|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	1153	Rab-GAP TBC.				cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TACCTGTGATGGTGCAAAACC	0.373																																						ENST00000275159.6																			0											c.(3580-3582)cCa>cAa		TBC1 domain family, member 32							218.0	216.0	217.0					6																	121427176		1876	4101	5977	SO:0001583	missense	221322							g.chr6:121427176G>T	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.3458C>A	6.37:g.121427176G>T	ENSP00000381270:p.Pro1153Gln					TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000398212.2_Missense_Mutation_p.P1153Q	p.P1194Q							31	3580	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.3581C>A	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541023	0.85917	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.28895	1.59;1.59	4.98	4.98	0.66077	Rab-GAP/TBC domain (1);	0.112203	0.64402	D	0.000009	T	0.47340	0.1440	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.47749	-0.9093	10	0.87932	D	0	.	17.7758	0.88506	0.0:0.0:1.0:0.0	.	1153	Q96NH3	BROMI_HUMAN	Q	1194;1153	ENSP00000275159:P1194Q;ENSP00000381270:P1153Q	ENSP00000275159:P1194Q	P	-	2	0	C6orf170	121468875	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.177000	0.89688	2.730000	0.93505	0.650000	0.86243	CCA		0.373	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		32	318	1	0	1.36615e-20	1	1.62732e-20	32	318				
DEFB119	245932	broad.mit.edu	37	20	29965130	29965130	+	Silent	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr20:29965130C>T	ENST00000376321.3	-	2	293	c.174G>A	c.(172-174)caG>caA	p.Q58Q	SNORA40_ENST00000390832.1_RNA|DEFB119_ENST00000339144.3_3'UTR|DEFB119_ENST00000492344.1_5'UTR	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	58					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCATGTAGGACTGGAGGCAGC	0.468																																						ENST00000376321.3																			0				large_intestine(2)|lung(1)|prostate(1)	4						c.(172-174)caG>caA		defensin, beta 119							219.0	189.0	199.0					20																	29965130		2203	4300	6503	SO:0001819	synonymous_variant	245932				defense response to bacterium	extracellular region		g.chr20:29965130C>T	AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"""Defensins, beta"""	18099	protein-coding gene	gene with protein product			"""defensin, beta 120"""	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.174G>A	20.37:g.29965130C>T						DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_3'UTR	p.Q58Q	NM_153289.2	NP_695021.2	Q8N690	DB119_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	293	-	all_hematologic(12;0.158)		58					Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Silent	SNP	ENST00000376321.3	37	c.174G>A	CCDS13178.1																																																																																				0.468	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	NM_153289		25	127	0	0	0	1	0	25	127				
AARS2	57505	broad.mit.edu	37	6	44271136	44271136	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr6:44271136G>A	ENST00000244571.4	-	15	2034	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	AARS2_ENST00000491573.1_5'Flank|RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCACTGCCCGGAGCTGCTCT	0.622																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(2032-2034)Cgg>Tgg		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						44.0	41.0	42.0					6																	44271136		2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44271136G>A	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2032C>T	6.37:g.44271136G>A	ENSP00000244571:p.Arg678Trp					TMEM151B_ENST00000438774.2_Intron	p.R678W	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		15	2034	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		678						Missense_Mutation	SNP	ENST00000244571.4	37	c.2032C>T	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338757	0.60963	.	.	ENSG00000124608	ENST00000244571	T	0.65549	-0.16	6.17	1.96	0.26148	Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.285443	0.39146	N	0.001449	T	0.46795	0.1411	M	0.85041	2.73	0.36884	D	0.889534	D	0.62365	0.991	B	0.40410	0.328	T	0.54807	-0.8238	10	0.87932	D	0	-8.6159	6.0864	0.19970	0.0657:0.1176:0.574:0.2427	.	678	Q5JTZ9	SYAM_HUMAN	W	678	ENSP00000244571:R678W	ENSP00000244571:R678W	R	-	1	2	AARS2	44379114	1.000000	0.71417	0.763000	0.31416	0.700000	0.40528	3.476000	0.53143	0.906000	0.36621	0.655000	0.94253	CGG		0.622	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		5	71	0	0	0	1	0	5	71				
RP11-423O2.5	0	broad.mit.edu	37	1	142803422	142803422	+	lincRNA	SNP	C	C	T	rs201862831		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:142803422C>T	ENST00000423385.1	-	0	1543																											cctgcctcatcctctcaagta	0.353																																						ENST00000423385.1																			0																																																			0							g.chr1:142803422C>T																													1.37:g.142803422C>T														0	1543	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.353	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	35	0	0	0	1	0	4	35				
KCNT2	343450	broad.mit.edu	37	1	196309639	196309639	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:196309639C>A	ENST00000294725.9	-	16	2530	c.1615G>T	c.(1615-1617)Ggt>Tgt	p.G539C	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.G539C|KCNT2_ENST00000609185.1_Missense_Mutation_p.G489C|KCNT2_ENST00000367431.4_Missense_Mutation_p.G489C|KCNT2_ENST00000451324.2_Missense_Mutation_p.G150C			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	539	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TATCGAGGACCTGGATTCAGC	0.318																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(1615-1617)Ggt>Tgt		potassium channel, subfamily T, member 2							69.0	69.0	69.0					1																	196309639		2203	4299	6502	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196309639C>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1615G>T	1.37:g.196309639C>A	ENSP00000294725:p.Gly539Cys					KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.G150C|KCNT2_ENST00000367431.4_Missense_Mutation_p.G489C|KCNT2_ENST00000294725.8_Missense_Mutation_p.G539C	p.G539C			Q6UVM3	KCNT2_HUMAN			16	1716	-			539			RCK N-terminal.		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.1615G>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896773	0.91962	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T;T	0.59772	1.67;0.24;1.03;1.98	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000003	T	0.82038	0.4950	M	0.90252	3.1	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.83937	0.0309	10	0.62326	D	0.03	-21.4864	20.3812	0.98933	0.0:1.0:0.0:0.0	.	539;521;539;489;539	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	C	539;489;360;150;539	ENSP00000356403:G539C;ENSP00000356401:G489C;ENSP00000405474:G150C;ENSP00000294725:G539C	ENSP00000294725:G539C	G	-	1	0	KCNT2	194576262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.773000	0.85462	2.821000	0.97095	0.650000	0.86243	GGT		0.318	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		18	78	1	0	2.4624e-09	1	2.75109e-09	18	78				
NAV2	89797	broad.mit.edu	37	11	20119158	20119158	+	Silent	SNP	A	A	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:20119158A>T	ENST00000396087.3	+	34	6324	c.6225A>T	c.(6223-6225)ctA>ctT	p.L2075L	NAV2_ENST00000533917.1_Silent_p.L1080L|NAV2_ENST00000527559.2_Silent_p.L2004L|NAV2_ENST00000540292.1_Silent_p.L2006L|NAV2_ENST00000396085.1_Silent_p.L2019L|NAV2_ENST00000349880.4_Silent_p.L2016L|NAV2_ENST00000360655.4_Silent_p.L1952L|NAV2_ENST00000311043.8_Silent_p.L1080L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2075				L -> V (in Ref. 7; BAB85038). {ECO:0000305}.	glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGAGTCAGCTAGGGCTGAATT	0.453																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(6055-6057)ctA>ctT		neuron navigator 2							96.0	93.0	94.0					11																	20119158		2203	4300	6503	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20119158A>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.6225A>T	11.37:g.20119158A>T						NAV2_ENST00000540292.1_Silent_p.L2006L|NAV2_ENST00000349880.4_Silent_p.L2016L|NAV2_ENST00000360655.4_Silent_p.L1952L|NAV2_ENST00000527559.2_Silent_p.L2004L|NAV2_ENST00000533917.1_Silent_p.L1080L|NAV2_ENST00000311043.8_Silent_p.L1080L|NAV2_ENST00000396087.3_Silent_p.L2075L	p.L2019L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			32	6418	+			2075					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.6057A>T	CCDS58126.1																																																																																				0.453	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		19	83	0	0	0	1	0	19	83				
LRRIQ1	84125	broad.mit.edu	37	12	85517969	85517969	+	Missense_Mutation	SNP	G	G	A	rs201880108		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:85517969G>A	ENST00000393217.2	+	17	3740	c.3679G>A	c.(3679-3681)Gaa>Aaa	p.E1227K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1227										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CAAGAAAGATGAATCAGAAGC	0.418																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(3679-3681)Gaa>Aaa		leucine-rich repeats and IQ motif containing 1		G	LYS/GLU	0,4406		0,0,2203	99.0	104.0	102.0		3679	-0.0	0.0	12		102	3,8597	3.0+/-9.4	0,3,4297	yes	missense	LRRIQ1	NM_001079910.1	56	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	1227/1723	85517969	3,13003	2203	4300	6503	SO:0001583	missense	84125							g.chr12:85517969G>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3679G>A	12.37:g.85517969G>A	ENSP00000376910:p.Glu1227Lys						p.E1227K	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	17	3740	+			1227					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.3679G>A	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	9.962	1.223186	0.22457	0.0	3.49E-4	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.55052	0.54	5.61	-0.0293	0.13918	.	0.707453	0.12872	N	0.432143	T	0.34629	0.0904	N	0.24115	0.695	0.09310	N	1	B;B	0.21381	0.055;0.055	B;B	0.12837	0.008;0.008	T	0.22243	-1.0222	10	0.51188	T	0.08	.	8.5182	0.33259	0.1971:0.3203:0.4826:0.0	.	1227;1202	Q96JM4;C9JI57	LRIQ1_HUMAN;.	K	1227;1202;1227	ENSP00000376910:E1227K	ENSP00000256007:E1227K	E	+	1	0	LRRIQ1	84042100	0.454000	0.25728	0.000000	0.03702	0.083000	0.17756	1.589000	0.36644	0.038000	0.15604	-0.237000	0.12165	GAA		0.418	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		18	73	0	0	0	1	0	18	73				
SKIV2L2	23517	broad.mit.edu	37	5	54662563	54662563	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr5:54662563A>G	ENST00000230640.5	+	16	1924	c.1670A>G	c.(1669-1671)gAt>gGt	p.D557G	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D456G	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	557	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GGCTCCGCTGATCCTCTAAAT	0.333																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			0				NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1669-1671)gAt>gGt		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							79.0	85.0	83.0					5																	54662563		2203	4300	6503	SO:0001583	missense	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54662563A>G	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1670A>G	5.37:g.54662563A>G	ENSP00000230640:p.Asp557Gly					SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D456G	p.D557G	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			16	1924	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	557			Helicase C-terminal.		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.1670A>G	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.791675	0.90367	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.34472	1.36;1.38	5.16	5.16	0.70880	Helicase, C-terminal (1);	0.106321	0.64402	D	0.000005	T	0.63792	0.2541	M	0.86420	2.815	0.80722	D	1	D;P	0.71674	0.998;0.852	D;P	0.65684	0.937;0.616	T	0.71580	-0.4550	10	0.72032	D	0.01	-31.2896	15.2583	0.73601	1.0:0.0:0.0:0.0	.	456;557	F5H7E2;P42285	.;SK2L2_HUMAN	G	557;456	ENSP00000230640:D557G;ENSP00000442583:D456G	ENSP00000230640:D557G	D	+	2	0	SKIV2L2	54698320	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.212000	0.95126	2.081000	0.62600	0.482000	0.46254	GAT		0.333	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			12	61	0	0	0	1	0	12	61				
RP1	6101	broad.mit.edu	37	8	55539400	55539400	+	Silent	SNP	A	A	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr8:55539400A>G	ENST00000220676.1	+	4	3106	c.2958A>G	c.(2956-2958)ctA>ctG	p.L986L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	986					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAGATAATCTATGTAAAGAGG	0.373																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(2956-2958)ctA>ctG		retinitis pigmentosa 1 (autosomal dominant)							133.0	142.0	139.0					8																	55539400		2203	4300	6503	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539400A>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2958A>G	8.37:g.55539400A>G							p.L986L	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	3106	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	986						Silent	SNP	ENST00000220676.1	37	c.2958A>G	CCDS6160.1																																																																																				0.373	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		65	194	0	0	0	1	0	65	194				
RXFP4	339403	broad.mit.edu	37	1	155912004	155912004	+	Silent	SNP	G	G	A	rs151259651		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:155912004G>A	ENST00000368318.3	+	1	525	c.504G>A	c.(502-504)gcG>gcA	p.A168A		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTGGGCGGCGGCTGCCCTGG	0.672																																						ENST00000368318.3																			0				endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13						c.(502-504)gcG>gcA		relaxin/insulin-like family peptide receptor 4		G		0,4406		0,0,2203	44.0	47.0	46.0		504	-9.1	0.6	1	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RXFP4	NM_181885.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		168/375	155912004	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	339403					integral to membrane|plasma membrane	angiotensin type II receptor activity	g.chr1:155912004G>A	AB065617	CCDS1124.1	1q22	2012-08-08	2006-05-09	2006-03-15	ENSG00000173080	ENSG00000173080		"""GPCR / Class A : Relaxin family peptide receptors"""	14666	protein-coding gene	gene with protein product		609043	"""G protein-coupled receptor 100"", ""relaxin 3 receptor 2"", ""relaxin family peptide receptor 4"""	GPR100, RLN3R2		15956688, 16507880	Standard	NM_181885		Approved	GPCR142, RXFPR4	uc010pgs.2	Q8TDU9	OTTHUMG00000017463	ENST00000368318.3:c.504G>A	1.37:g.155912004G>A							p.A168A	NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN			1	525	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		168					B0M0L4|Q3MJB1|Q8NGZ8	Silent	SNP	ENST00000368318.3	37	c.504G>A	CCDS1124.1																																																																																				0.672	RXFP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046203.1	NM_181885		19	100	0	0	0	1	0	19	100				
LILRB2	10288	broad.mit.edu	37	19	54783717	54783717	+	Missense_Mutation	SNP	C	C	T	rs145209585	byFrequency	TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr19:54783717C>T	ENST00000391749.4	-	4	555	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	LILRB2_ENST00000434421.1_5'UTR|LILRB2_ENST00000391746.1_Missense_Mutation_p.R95Q|MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000391748.1_Missense_Mutation_p.R95Q|LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000314446.5_Missense_Mutation_p.R95Q	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	95	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACAGCCATATCGCCCTGTGTG	0.557																																						ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(283-285)cGa>cAa		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2		C	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	173.0	165.0	167.0		284,284	-3.5	0.0	19	dbSNP_134	167	0,8600		0,0,4300	no	missense,missense	LILRB2	NM_001080978.2,NM_005874.3	43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	95/598,95/599	54783717	2,13004	2203	4300	6503	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54783717C>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.284G>A	19.37:g.54783717C>T	ENSP00000375629:p.Arg95Gln					LILRB2_ENST00000391749.4_Missense_Mutation_p.R95Q|LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000314446.5_Missense_Mutation_p.R95Q|LILRB2_ENST00000434421.1_5'UTR|LILRB2_ENST00000391746.1_Missense_Mutation_p.R95Q	p.R95Q	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	411	-	Ovarian(34;0.19)		95			Ig-like C2-type 1.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.284G>A	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	4.239	0.043215	0.08196	4.54E-4	0.0	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	1.76	-3.51	0.04696	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.592300	0.04262	N	0.340541	T	0.06917	0.0176	N	0.21545	0.675	0.09310	N	0.999999	P;B;P	0.42692	0.787;0.428;0.456	B;B;B	0.29267	0.1;0.034;0.021	T	0.33954	-0.9848	10	0.25751	T	0.34	.	8.2437	0.31675	0.0:0.66:0.0:0.34	.	95;112;95	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	Q	95	ENSP00000375628:R95Q;ENSP00000319960:R95Q;ENSP00000375629:R95Q;ENSP00000375626:R95Q	ENSP00000319960:R95Q	R	-	2	0	LILRB2	59475529	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-5.777000	0.00099	-1.280000	0.02402	-0.763000	0.03452	CGA		0.557	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			15	166	0	0	0	1	0	15	166				
XIRP1	165904	broad.mit.edu	37	3	39226144	39226144	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:39226144C>A	ENST00000340369.3	-	2	5021	c.4793G>T	c.(4792-4794)gGc>gTc	p.G1598V	XIRP1_ENST00000421646.1_Missense_Mutation_p.G281V|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1598					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTGGCCTGAGCCACTGGGCCT	0.562																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(4792-4794)gGc>gTc		xin actin-binding repeat containing 1							194.0	182.0	186.0					3																	39226144		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39226144C>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.4793G>T	3.37:g.39226144C>A	ENSP00000343140:p.Gly1598Val					XIRP1_ENST00000421646.1_Missense_Mutation_p.G281V|XIRP1_ENST00000396251.1_3'UTR	p.G1598V	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	5021	-			1598					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.4793G>T	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	5.533	0.283225	0.10458	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.16324	4.03;2.35	4.37	3.49	0.39957	.	1.176190	0.06463	U	0.729853	T	0.13927	0.0337	L	0.29908	0.895	0.09310	N	0.999996	B	0.22276	0.067	B	0.14578	0.011	T	0.26608	-1.0098	10	0.30078	T	0.28	.	8.8602	0.35253	0.0:0.8911:0.0:0.1089	.	1598	Q702N8	XIRP1_HUMAN	V	1598;281	ENSP00000343140:G1598V;ENSP00000391645:G281V	ENSP00000343140:G1598V	G	-	2	0	XIRP1	39201148	0.000000	0.05858	0.005000	0.12908	0.509000	0.34042	0.221000	0.17680	1.156000	0.42514	0.655000	0.94253	GGC		0.562	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		43	199	1	0	1.57945e-13	1	1.82765e-13	43	199				
PLCD4	84812	broad.mit.edu	37	2	219500994	219500994	+	Silent	SNP	A	A	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:219500994A>G	ENST00000450993.2	+	15	2400	c.2061A>G	c.(2059-2061)ctA>ctG	p.L687L	PLCD4_ENST00000417849.1_Silent_p.L687L|PLCD4_ENST00000432688.1_Silent_p.L719L|RP11-548H3.1_ENST00000607946.1_RNA	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	687	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGCAGACACTATGTTTCCGGG	0.438																																						ENST00000450993.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23						c.(2059-2061)ctA>ctG		phospholipase C, delta 4							205.0	199.0	201.0					2																	219500994		1968	4149	6117	SO:0001819	synonymous_variant	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219500994A>G	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.2061A>G	2.37:g.219500994A>G						PLCD4_ENST00000432688.1_Silent_p.L719L|PLCD4_ENST00000417849.1_Silent_p.L687L	p.L687L	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	15	2400	+		Renal(207;0.0915)	687			C2.		Q53FS8	Silent	SNP	ENST00000450993.2	37	c.2061A>G	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	A	6.553	0.470310	0.12461	.	.	ENSG00000115556	ENST00000457773	.	.	.	5.17	-6.57	0.01842	.	.	.	.	.	T	0.45915	0.1366	.	.	.	0.48341	D	0.999638	.	.	.	.	.	.	T	0.46247	-0.9205	4	.	.	.	.	5.6413	0.17565	0.2822:0.2337:0.4095:0.0745	.	.	.	.	V	36	.	.	M	+	1	0	PLCD4	219209238	0.000000	0.05858	0.005000	0.12908	0.909000	0.53808	-2.875000	0.00718	-1.593000	0.01617	-1.139000	0.01908	ATG		0.438	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			40	202	0	0	0	1	0	40	202				
TNC	3371	broad.mit.edu	37	9	117848674	117848674	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr9:117848674G>A	ENST00000350763.4	-	3	1747	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	TNC_ENST00000340094.3_Missense_Mutation_p.R446W|TNC_ENST00000542877.1_Missense_Mutation_p.R446W|TNC_ENST00000346706.3_Missense_Mutation_p.R446W|TNC_ENST00000345230.3_Missense_Mutation_p.R446W|TNC_ENST00000535648.1_Missense_Mutation_p.R446W|TNC_ENST00000423613.2_Missense_Mutation_p.R446W|TNC_ENST00000341037.4_Missense_Mutation_p.R446W|TNC_ENST00000537320.1_Missense_Mutation_p.R446W	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	446	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGCGGCCCCGACTGTGACAG	0.587																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(1336-1338)Cgg>Tgg		tenascin C							122.0	111.0	115.0					9																	117848674		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117848674G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1336C>T	9.37:g.117848674G>A	ENSP00000265131:p.Arg446Trp					TNC_ENST00000537320.1_Missense_Mutation_p.R446W|TNC_ENST00000346706.3_Missense_Mutation_p.R446W|TNC_ENST00000535648.1_Missense_Mutation_p.R446W|TNC_ENST00000542877.1_Missense_Mutation_p.R446W|TNC_ENST00000340094.3_Missense_Mutation_p.R446W|TNC_ENST00000345230.3_Missense_Mutation_p.R446W|TNC_ENST00000423613.2_Missense_Mutation_p.R446W|TNC_ENST00000341037.4_Missense_Mutation_p.R446W	p.R446W	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			3	1747	-			446			EGF-like 10.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.1336C>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139985	0.37728	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.11604	2.76;3.93;2.76;2.76;3.93;3.93;3.93;2.76;2.76	5.95	4.08	0.47627	Epidermal growth factor-like (1);	0.048294	0.85682	D	0.000000	T	0.42562	0.1208	H	0.95712	3.71	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.99;0.997	T	0.51236	-0.8731	10	0.62326	D	0.03	.	10.2941	0.43613	0.0:0.1326:0.5924:0.275	.	446;446	E9PC84;P24821	.;TENA_HUMAN	W	446	ENSP00000344400:R446W;ENSP00000438152:R446W;ENSP00000344555:R446W;ENSP00000345861:R446W;ENSP00000265131:R446W;ENSP00000339553:R446W;ENSP00000411406:R446W;ENSP00000443478:R446W;ENSP00000442242:R446W	ENSP00000344400:R446W	R	-	1	2	TNC	116888495	1.000000	0.71417	0.888000	0.34837	0.015000	0.08874	3.871000	0.56077	0.822000	0.34565	-0.302000	0.09304	CGG		0.587	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		11	180	0	0	0	1	0	11	180				
IMMP1L	196294	broad.mit.edu	37	11	31454100	31454100	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:31454100C>A	ENST00000278200.1	-	7	643	c.448G>T	c.(448-450)Gat>Tat	p.D150Y	AC108456.1_ENST00000408411.1_RNA|IMMP1L_ENST00000533642.1_Missense_Mutation_p.D41Y|IMMP1L_ENST00000532287.1_Missense_Mutation_p.D150Y|IMMP1L_ENST00000526776.1_Missense_Mutation_p.D78Y|IMMP1L_ENST00000534812.1_Missense_Mutation_p.D41Y	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	150					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	serine-type peptidase activity (GO:0008236)			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					AATCCAAAATCACTCAGAGGC	0.338																																						ENST00000278200.1																			0				breast(1)|cervix(1)|large_intestine(1)|lung(4)	7						c.(448-450)Gat>Tat		IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)							69.0	66.0	67.0					11																	31454100		2202	4298	6500	SO:0001583	missense	196294				proteolysis	mitochondrial inner membrane	serine-type peptidase activity	g.chr11:31454100C>A		CCDS7874.1	11p13	2014-07-30			ENSG00000148950	ENSG00000148950			26317	protein-coding gene	gene with protein product		612323					Standard	NM_144981		Approved	FLJ25059	uc001msy.1	Q96LU5	OTTHUMG00000166226	ENST00000278200.1:c.448G>T	11.37:g.31454100C>A	ENSP00000278200:p.Asp150Tyr					IMMP1L_ENST00000534812.1_Missense_Mutation_p.D41Y|IMMP1L_ENST00000532287.1_Missense_Mutation_p.D150Y|IMMP1L_ENST00000533642.1_Missense_Mutation_p.D41Y|IMMP1L_ENST00000526776.1_Missense_Mutation_p.D78Y	p.D150Y	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN			7	643	-	Lung SC(675;0.225)		150					D3DQZ7|Q96SH9	Missense_Mutation	SNP	ENST00000278200.1	37	c.448G>T	CCDS7874.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244175	0.79912	.	.	ENSG00000148950	ENST00000532287;ENST00000526776;ENST00000534812;ENST00000278200;ENST00000533642	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.74	5.74	0.90152	Peptidase S24/S26A/S26B/S26C (1);Peptidase S24/S26A/S26B/S26C, beta-ribbon domain (1);	0.334053	0.35040	N	0.003486	T	0.41696	0.1170	L	0.31120	0.905	0.49582	D	0.999804	B	0.25521	0.128	B	0.25987	0.065	T	0.32214	-0.9915	10	0.87932	D	0	-5.5255	18.099	0.89499	0.0:1.0:0.0:0.0	.	150	Q96LU5	IMP1L_HUMAN	Y	150;78;41;150;41	ENSP00000435576:D150Y;ENSP00000434280:D78Y;ENSP00000432673:D41Y;ENSP00000278200:D150Y;ENSP00000432471:D41Y	ENSP00000278200:D150Y	D	-	1	0	IMMP1L	31410676	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.011000	0.64011	2.711000	0.92665	0.561000	0.74099	GAT		0.338	IMMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388496.1	NM_144981		11	64	1	0	0.000978159	1	0.00101578	11	64				
OR5D16	390144	broad.mit.edu	37	11	55606580	55606580	+	Missense_Mutation	SNP	C	C	T	rs562661348		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:55606580C>T	ENST00000378396.1	+	1	353	c.353C>T	c.(352-354)gCg>gTg	p.A118V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A118V(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ATTCTATTTGCGGTGATGGCC	0.423													-|||	1	0.000199681	0.0	0.0014	5008	,	,		18662	0.0		0.0	False		,,,				2504	0.0					ENST00000378396.1																			1	Substitution - Missense(1)	p.A118V(1)	ovary(1)	cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(352-354)gCg>gTg		olfactory receptor, family 5, subfamily D, member 16							122.0	118.0	119.0					11																	55606580		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606580C>T	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.353C>T	11.37:g.55606580C>T	ENSP00000367649:p.Ala118Val						p.A118V	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	353	+		all_epithelial(135;0.208)	118					Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.353C>T	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	14.25	2.478779	0.44044	.	.	ENSG00000205029	ENST00000378396	T	0.02015	4.5	4.47	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.07954	0.0199	M	0.76433	2.335	0.09310	N	1	D	0.55605	0.972	P	0.53593	0.73	T	0.08994	-1.0695	9	0.72032	D	0.01	-5.0358	11.1707	0.48569	0.0:0.9083:0.0:0.0917	.	118	Q8NGK9	OR5DG_HUMAN	V	118	ENSP00000367649:A118V	ENSP00000367649:A118V	A	+	2	0	OR5D16	55363156	0.001000	0.12720	0.009000	0.14445	0.743000	0.42351	1.590000	0.36654	1.048000	0.40298	0.530000	0.56133	GCG		0.423	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		38	167	0	0	0	1	0	38	167				
ATP8B2	57198	broad.mit.edu	37	1	154320941	154320941	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:154320941C>T	ENST00000368489.3	+	27	3320	c.3320C>T	c.(3319-3321)aCa>aTa	p.T1107I		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1093					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTGCTCACCACAGTCGTCTGC	0.607																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(3319-3321)aCa>aTa		ATPase, aminophospholipid transporter, class I, type 8B, member 2							91.0	75.0	80.0					1																	154320941		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154320941C>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.3320C>T	1.37:g.154320941C>T	ENSP00000357475:p.Thr1107Ile						p.T1107I	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		27	3320	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		1093					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.3320C>T	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711115	0.48517	.	.	ENSG00000143515	ENST00000368489	T	0.57595	0.39	4.55	4.55	0.56014	.	0.132302	0.49305	D	0.000152	T	0.27454	0.0674	L	0.31065	0.9	0.80722	D	1	B	0.18013	0.025	B	0.26770	0.073	T	0.08371	-1.0725	10	0.20519	T	0.43	.	16.0268	0.80550	0.0:1.0:0.0:0.0	.	1107	P98198-3	.	I	1107	ENSP00000357475:T1107I	ENSP00000357475:T1107I	T	+	2	0	ATP8B2	152587565	0.998000	0.40836	0.955000	0.39395	0.749000	0.42624	3.857000	0.55972	2.349000	0.79799	0.491000	0.48974	ACA		0.607	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		10	37	0	0	0	1	0	10	37				
TULP4	56995	broad.mit.edu	37	6	158923680	158923680	+	Silent	SNP	G	G	A	rs557337955		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr6:158923680G>A	ENST00000367097.3	+	13	4342	c.2985G>A	c.(2983-2985)acG>acA	p.T995T	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	995					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTGAGGCTACGCTCAAGATGG	0.706													g|||	1	0.000199681	0.0008	0.0	5008	,	,		13838	0.0		0.0	False		,,,				2504	0.0					ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2983-2985)acG>acA		tubby like protein 4							10.0	12.0	11.0					6																	158923680		2175	4279	6454	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158923680G>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2985G>A	6.37:g.158923680G>A						TULP4_ENST00000367094.2_Intron	p.T995T	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	4342	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	995					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.2985G>A	CCDS34561.1																																																																																				0.706	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		3	33	0	0	0	1	0	3	33				
LINC00969	440993	broad.mit.edu	37	3	195400841	195400841	+	lincRNA	SNP	C	C	A	rs7615369		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:195400841C>A	ENST00000445430.1	+	0	1437									long intergenic non-protein coding RNA 969																		CTGAGCATCGCAGAGTCGTGC	0.552																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400841C>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400841C>A														0	1437	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.552	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	84	1	0	7.48243e-07	1	7.97469e-07	4	84				
DACT1	51339	broad.mit.edu	37	14	59112831	59112831	+	Missense_Mutation	SNP	C	C	A	rs373845670		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr14:59112831C>A	ENST00000335867.4	+	4	1514	c.1490C>A	c.(1489-1491)cCg>cAg	p.P497Q	DACT1_ENST00000395153.3_Missense_Mutation_p.P460Q|DACT1_ENST00000541264.2_Missense_Mutation_p.P216Q|DACT1_ENST00000556859.1_Missense_Mutation_p.P216Q			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	497					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCTGCCCCGCCGCAGGAGAAC	0.602																																						ENST00000395153.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(1378-1380)cCg>cAg		dishevelled-binding antagonist of beta-catenin 1							60.0	76.0	71.0					14																	59112831		2202	4296	6498	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112831C>A	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1490C>A	14.37:g.59112831C>A	ENSP00000337439:p.Pro497Gln					DACT1_ENST00000395151.3_Missense_Mutation_p.P216Q|DACT1_ENST00000541264.2_Missense_Mutation_p.P216Q|DACT1_ENST00000556859.1_Missense_Mutation_p.P216Q|DACT1_ENST00000335867.4_Missense_Mutation_p.P497Q	p.P460Q	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	1526	+			497					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1379C>A	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.592716	0.00864	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.02	-10.0	0.00425	.	1.149250	0.06466	N	0.730343	T	0.17109	0.0411	N	0.13043	0.29	0.09310	N	1	B;B	0.16603	0.018;0.018	B;B	0.15052	0.012;0.007	T	0.10359	-1.0633	10	0.23302	T	0.38	1.355	3.9665	0.09434	0.2075:0.4535:0.1526:0.1864	.	460;497	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	Q	216;216;460;497;216	ENSP00000451598:P216Q;ENSP00000378581:P216Q;ENSP00000378582:P460Q;ENSP00000337439:P497Q;ENSP00000442850:P216Q	ENSP00000337439:P497Q	P	+	2	0	DACT1	58182584	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.969000	0.03813	-1.751000	0.01326	-0.311000	0.09066	CCG		0.602	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		59	166	1	0	9.53615e-21	1	1.14434e-20	59	166				
FAM65C	140876	broad.mit.edu	37	20	49209009	49209009	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr20:49209009G>T	ENST00000327979.2	-	19	2848	c.2437C>A	c.(2437-2439)Cag>Aag	p.Q813K	FAM65C_ENST00000045083.2_Missense_Mutation_p.Q813K|FAM65C_ENST00000462842.1_5'Flank|FAM65C_ENST00000535356.1_Missense_Mutation_p.Q817K			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	813										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCTGGAGCTGGCCCAGCCGC	0.672																																						ENST00000327979.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2437-2439)Cag>Aag		family with sequence similarity 65, member C							16.0	20.0	19.0					20																	49209009		1936	4123	6059	SO:0001583	missense	140876							g.chr20:49209009G>T	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.2437C>A	20.37:g.49209009G>T	ENSP00000332663:p.Gln813Lys					FAM65C_ENST00000535356.1_Missense_Mutation_p.Q817K|FAM65C_ENST00000045083.2_Missense_Mutation_p.Q813K	p.Q813K			Q96MK2	FA65C_HUMAN			19	2848	-			813					Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	c.2437C>A	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742482	0.49151	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.77489	-1.1;-1.1;-1.1	4.51	3.49	0.39957	.	0.709901	0.12172	U	0.492956	T	0.75019	0.3793	M	0.65975	2.015	0.28621	N	0.908158	B;B	0.28933	0.01;0.228	B;B	0.30855	0.037;0.121	T	0.64618	-0.6365	10	0.12430	T	0.62	-18.5267	15.0216	0.71635	0.0:0.1424:0.8575:0.0	.	817;813	F5H0X2;Q96MK2	.;FA65C_HUMAN	K	813;813;817	ENSP00000332663:Q813K;ENSP00000045083:Q813K;ENSP00000439802:Q817K	ENSP00000045083:Q813K	Q	-	1	0	FAM65C	48642416	0.505000	0.26131	1.000000	0.80357	0.925000	0.55904	1.063000	0.30567	2.216000	0.71823	0.462000	0.41574	CAG		0.672	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			9	35	1	0	0.000673444	1	0.000703858	9	35				
ZNF732	654254	broad.mit.edu	37	4	265307	265307	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr4:265307T>C	ENST00000419098.1	-	4	1349	c.1339A>G	c.(1339-1341)Aaa>Gaa	p.K447E		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						TCTTCACATTTGTAAGGTTTC	0.418																																						ENST00000419098.1																			0				endometrium(1)|lung(2)	3						c.(1339-1341)Aaa>Gaa		zinc finger protein 732							58.0	53.0	54.0					4																	265307		692	1591	2283	SO:0001583	missense	654254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:265307T>C	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.1339A>G	4.37:g.265307T>C	ENSP00000415774:p.Lys447Glu						p.K447E	NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN			4	1349	-			447						Missense_Mutation	SNP	ENST00000419098.1	37	c.1339A>G	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.105159	0.37145	.	.	ENSG00000186777	ENST00000419098	T	0.16196	2.36	0.977	-1.33	0.09172	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12008	0.0292	N	0.25426	0.745	0.22050	N	0.999391	P	0.41345	0.746	P	0.46758	0.526	T	0.30268	-0.9984	9	0.13470	T	0.59	.	4.5105	0.11908	0.0:0.0:0.3228:0.6772	.	447	B4DXR9	ZN732_HUMAN	E	447	ENSP00000415774:K447E	ENSP00000415774:K447E	K	-	1	0	ZNF732	255307	0.000000	0.05858	0.468000	0.27192	0.429000	0.31625	-5.303000	0.00133	0.338000	0.23692	0.329000	0.21502	AAA		0.418	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		5	37	0	0	0	1	0	5	37				
PNMA2	10687	broad.mit.edu	37	8	26366088	26366088	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr8:26366088C>T	ENST00000522362.2	-	3	1078	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	62					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		acagcattggcattctcctgc	0.502																																						ENST00000522362.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11						c.(184-186)Gcc>Acc		paraneoplastic Ma antigen 2							77.0	76.0	76.0					8																	26366088		2203	4300	6503	SO:0001583	missense	10687				apoptosis	nucleolus	protein binding	g.chr8:26366088C>T		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.184G>A	8.37:g.26366088C>T	ENSP00000429344:p.Ala62Thr						p.A62T	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	1078	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	62					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	ENST00000522362.2	37	c.184G>A	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531704	0.27387	.	.	ENSG00000240694	ENST00000522362	T	0.11169	2.8	3.77	0.402	0.16344	.	.	.	.	.	T	0.07052	0.0179	N	0.25992	0.78	0.23930	N	0.996436	B	0.09022	0.002	B	0.08055	0.003	T	0.35968	-0.9767	9	0.41790	T	0.15	-21.7407	5.5482	0.17076	0.0:0.5143:0.0:0.4857	.	62	Q9UL42	PNMA2_HUMAN	T	62	ENSP00000429344:A62T	ENSP00000429344:A62T	A	-	1	0	PNMA2	26422005	0.197000	0.23362	0.983000	0.44433	0.842000	0.47809	-0.271000	0.08572	0.056000	0.16144	-0.244000	0.11960	GCC		0.502	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		21	73	0	0	0	1	0	21	73				
PIP5K1B	8395	broad.mit.edu	37	9	71503990	71503990	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr9:71503990A>G	ENST00000265382.3	+	7	717	c.412A>G	c.(412-414)Aaa>Gaa	p.K138E	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.K138E	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	138	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		ATTTATCATCAAAACAGTTCA	0.393																																						ENST00000265382.3																			0				breast(1)|large_intestine(2)|stomach(1)	4						c.(412-414)Aaa>Gaa		phosphatidylinositol-4-phosphate 5-kinase, type I, beta							154.0	147.0	149.0					9																	71503990		2203	4300	6503	SO:0001583	missense	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71503990A>G	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.412A>G	9.37:g.71503990A>G	ENSP00000265382:p.Lys138Glu					PIP5K1B_ENST00000541509.1_Missense_Mutation_p.K138E	p.K138E	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN		Lung(182;0.133)	7	717	+			138			PIPK.		A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	ENST00000265382.3	37	c.412A>G	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	A	32	5.139526	0.94560	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747;ENST00000437200;ENST00000440050	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	5.7	5.7	0.88788	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.95818	0.8639	H	0.99312	4.51	0.80722	D	1	D	0.69078	0.997	D	0.71870	0.975	D	0.97804	1.0246	10	0.87932	D	0	-14.3022	15.9771	0.80076	1.0:0.0:0.0:0.0	.	138	O14986	PI51B_HUMAN	E	138;138;138;85;138;138	ENSP00000438082:K138E;ENSP00000265382:K138E;ENSP00000398587:K138E;ENSP00000411477:K138E	ENSP00000265382:K138E	K	+	1	0	PIP5K1B	70693810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.165000	0.68154	0.533000	0.62120	AAA		0.393	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		39	78	0	0	0	1	0	39	78				
SNHG24	101929369	broad.mit.edu	37	14	101449296	101449296	+	lincRNA	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr14:101449296C>T	ENST00000554693.2	+	0	717				SNORD113_ENST00000364840.1_RNA|SNORD114-24_ENST00000365029.1_RNA|SNORD114-22_ENST00000365423.1_RNA|SNORD114-20_ENST00000365178.1_RNA|SNORD114-21_ENST00000606412.1_RNA|SNORD114-23_ENST00000363536.1_RNA																							GCGTATGAGTCATATGTGATG	0.358																																						ENST00000554693.2																			0																				168.0	153.0	157.0					14																	101449296		876	1991	2867			101929369							g.chr14:101449296C>T																													14.37:g.101449296C>T						SNORD114-22_ENST00000365423.1_RNA								0	717	+									RNA	SNP	ENST00000554693.2	37																																																																																						0.358	RP11-909M7.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468646.1			47	125	0	0	0	1	0	47	125				
CCT6A	908	broad.mit.edu	37	7	56127965	56127965	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr7:56127965G>A	ENST00000275603.4	+	10	1288	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	SNORA15_ENST00000384439.1_RNA|CCT6A_ENST00000335503.3_Missense_Mutation_p.E312K|CCT6A_ENST00000540286.1_Missense_Mutation_p.E326K	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	357					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACATAGGGAGAAGAGAAGTT	0.358																																						ENST00000275603.4																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(1069-1071)Gaa>Aaa		chaperonin containing TCP1, subunit 6A (zeta 1)							66.0	64.0	65.0					7																	56127965		2203	4300	6503	SO:0001583	missense	908				'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	g.chr7:56127965G>A	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.1069G>A	7.37:g.56127965G>A	ENSP00000275603:p.Glu357Lys					CCT6A_ENST00000335503.3_Missense_Mutation_p.E312K|CCT6A_ENST00000540286.1_Missense_Mutation_p.E326K	p.E357K	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		10	1288	+	Breast(14;0.214)		357					A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	ENST00000275603.4	37	c.1069G>A	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	G	34	5.310097	0.95629	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	T;T;T	0.68624	-0.34;-0.34;-0.34	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.78387	0.4275	L	0.61036	1.89	0.80722	D	1	P;P;B	0.35872	0.493;0.525;0.26	P;B;P	0.51895	0.683;0.33;0.494	T	0.78114	-0.2330	10	0.66056	D	0.02	-26.5914	18.7799	0.91928	0.0:0.0:1.0:0.0	.	326;312;357	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	K	357;312;326;215	ENSP00000275603:E357K;ENSP00000352019:E312K;ENSP00000438488:E326K	ENSP00000275603:E357K	E	+	1	0	CCT6A	56095459	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.051000	0.93849	2.677000	0.91161	0.591000	0.81541	GAA		0.358	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762		7	54	0	0	0	1	0	7	54				
FSHR	2492	broad.mit.edu	37	2	49381411	49381411	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:49381411A>T	ENST00000406846.2	-	1	265	c.146T>A	c.(145-147)aTt>aAt	p.I49N	FSHR_ENST00000346173.3_Missense_Mutation_p.I49N|FSHR_ENST00000304421.4_Missense_Mutation_p.I49N	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	49					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TCACAGTTCAATGGCATTCCT	0.453									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(145-147)aTt>aAt		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						68.0	67.0	67.0					2																	49381411		2203	4300	6503	SO:0001583	missense	2492	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49381411A>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.146T>A	2.37:g.49381411A>T	ENSP00000384708:p.Ile49Asn					FSHR_ENST00000346173.3_Missense_Mutation_p.I49N|FSHR_ENST00000304421.4_Missense_Mutation_p.I49N	p.I49N	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	265	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	49					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.146T>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	A	2.993	-0.207732	0.06180	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76	5.46	5.46	0.80206	Leucine-rich repeat-containing N-terminal (1);	0.520709	0.18639	N	0.135358	T	0.63189	0.2490	N	0.08118	0	0.58432	D	0.999996	B;P;B	0.50369	0.112;0.934;0.158	B;B;B	0.35971	0.053;0.215;0.034	T	0.65520	-0.6148	9	.	.	.	.	11.8612	0.52467	1.0:0.0:0.0:0.0	.	49;49;49	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	N	49	ENSP00000384708:I49N;ENSP00000333908:I49N;ENSP00000306780:I49N;ENSP00000415504:I49N	.	I	-	2	0	FSHR	49234915	0.543000	0.26434	0.121000	0.21740	0.110000	0.19582	3.371000	0.52379	2.291000	0.77112	0.533000	0.62120	ATT		0.453	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			7	39	0	0	0	1	0	7	39				
HSCB	150274	broad.mit.edu	37	22	29138288	29138288	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr22:29138288C>T	ENST00000216027.3	+	1	270	c.205C>T	c.(205-207)Ccc>Tcc	p.P69S	CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000382578.1_5'Flank|CHEK2_ENST00000328354.6_5'Flank|CHEK2_ENST00000405598.1_5'Flank|HSCB_ENST00000398941.2_Missense_Mutation_p.P69S|CHEK2_ENST00000382565.1_5'Flank|CHEK2_ENST00000382580.2_5'Flank|CHEK2_ENST00000382566.1_5'Flank|CHEK2_ENST00000348295.3_5'Flank	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	69					iron-sulfur cluster assembly (GO:0016226)|protein folding (GO:0006457)|protein oligomerization (GO:0051259)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|lung(2)|skin(1)	4						GGCACCTGACCCCACTCGAGA	0.652																																						ENST00000216027.3																			0				kidney(1)|lung(2)|skin(1)	4						c.(205-207)Ccc>Tcc		HscB mitochondrial iron-sulfur cluster co-chaperone							35.0	32.0	33.0					22																	29138288		2201	4296	6497	SO:0001583	missense	150274				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding	g.chr22:29138288C>T	AY191719	CCDS13845.1	22q12.1	2013-09-12	2013-09-12		ENSG00000100209	ENSG00000100209		"""Heat shock proteins / DNAJ (HSP40)"""	28913	protein-coding gene	gene with protein product	"""DnaJ (Hsp40) homolog, subfamily C, member 20"""	608142	"""HscB iron-sulfur cluster co-chaperone homolog (E. coli)"""			12938016, 16952052	Standard	NM_172002		Approved	HSC20, DNAJC20, Jac1	uc003aea.3	Q8IWL3	OTTHUMG00000151092	ENST00000216027.3:c.205C>T	22.37:g.29138288C>T	ENSP00000216027:p.Pro69Ser					HSCB_ENST00000398941.2_Missense_Mutation_p.P69S|CHEK2_ENST00000544772.1_5'UTR	p.P69S	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN			1	270	+			69					Q9BWS7	Missense_Mutation	SNP	ENST00000216027.3	37	c.205C>T	CCDS13845.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879489	0.33162	.	.	ENSG00000100209	ENST00000216027;ENST00000398941	T;T	0.42513	1.58;0.97	5.3	5.3	0.74995	Heat shock protein DnaJ, N-terminal (1);	0.498441	0.22005	N	0.065948	T	0.36826	0.0981	L	0.55481	1.735	0.40199	D	0.977492	B	0.26635	0.155	B	0.16722	0.016	T	0.17289	-1.0374	10	0.11485	T	0.65	-1.9883	15.8067	0.78520	0.0:1.0:0.0:0.0	.	69	Q8IWL3	HSC20_HUMAN	S	69	ENSP00000216027:P69S;ENSP00000381914:P69S	ENSP00000216027:P69S	P	+	1	0	HSCB	27468288	0.861000	0.29849	0.976000	0.42696	0.524000	0.34500	1.620000	0.36976	2.766000	0.95052	0.491000	0.48974	CCC		0.652	HSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321263.1	NM_172002		7	51	0	0	0	1	0	7	51				
LRFN5	145581	broad.mit.edu	37	14	42357125	42357125	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr14:42357125C>A	ENST00000298119.4	+	3	2486	c.1297C>A	c.(1297-1299)Ctt>Att	p.L433I	LRFN5_ENST00000554120.1_Missense_Mutation_p.L433I|LRFN5_ENST00000554171.1_Missense_Mutation_p.L433I	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	433	Fibronectin type-III.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AACGGCACTACTTAAATTTAA	0.338										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1297-1299)Ctt>Att		leucine rich repeat and fibronectin type III domain containing 5							54.0	52.0	53.0					14																	42357125		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42357125C>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1297C>A	14.37:g.42357125C>A	ENSP00000298119:p.Leu433Ile	HNSCC(30;0.082)				LRFN5_ENST00000298119.4_Missense_Mutation_p.L433I|LRFN5_ENST00000554120.1_Missense_Mutation_p.L433I	p.L433I			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	3729	+			433			Fibronectin type-III.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1297C>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.574048	0.00887	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.74421	-0.84;0.81;0.81	5.4	4.52	0.55395	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.46442	D	0.000293	T	0.32734	0.0839	N	0.00272	-1.73	0.36926	D	0.891639	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.36962	-0.9726	10	0.08179	T	0.78	.	7.1915	0.25828	0.169:0.7443:0.0:0.0867	.	433;433	G3V364;Q96NI6	.;LRFN5_HUMAN	I	433	ENSP00000298119:L433I;ENSP00000451897:L433I;ENSP00000451067:L433I	ENSP00000298119:L433I	L	+	1	0	LRFN5	41426875	0.942000	0.31987	1.000000	0.80357	0.964000	0.63967	1.605000	0.36815	1.408000	0.46895	0.563000	0.77884	CTT		0.338	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		17	36	1	0	3.41278e-10	1	3.83938e-10	17	36				
GYS2	2998	broad.mit.edu	37	12	21727085	21727085	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:21727085A>C	ENST00000261195.2	-	4	925	c.671T>G	c.(670-672)cTt>cGt	p.L224R		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	224					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TACCTTATCAAGATGGTTGTA	0.408																																					Colon(149;9 1820 3690 10544 50424)	ENST00000261195.2																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(670-672)cTt>cGt		glycogen synthase 2 (liver)							152.0	134.0	140.0					12																	21727085		2203	4300	6503	SO:0001583	missense	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21727085A>C		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.671T>G	12.37:g.21727085A>C	ENSP00000261195:p.Leu224Arg						p.L224R	NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN			4	925	-			224					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.671T>G	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.314729	0.81358	.	.	ENSG00000111713	ENST00000261195	T	0.72394	-0.65	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.87892	0.6292	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91094	0.4909	10	0.87932	D	0	-28.7126	15.2175	0.73281	1.0:0.0:0.0:0.0	.	224	P54840	GYS2_HUMAN	R	224	ENSP00000261195:L224R	ENSP00000261195:L224R	L	-	2	0	GYS2	21618352	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	8.745000	0.91600	2.187000	0.69744	0.482000	0.46254	CTT		0.408	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		22	50	0	0	0	1	0	22	50				
EIF2S3	1968	broad.mit.edu	37	X	24091373	24091373	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chrX:24091373C>T	ENST00000253039.4	+	11	1601	c.1348C>T	c.(1348-1350)Cac>Tac	p.H450Y	EIF2S3_ENST00000460032.1_3'UTR	NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	450					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						AGTTGAAAAACACTGGCGGTA	0.398																																						ENST00000253039.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						c.(1348-1350)Cac>Tac		eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa							88.0	84.0	85.0					X																	24091373		2203	4300	6503	SO:0001583	missense	1968					cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chrX:24091373C>T	L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"""eukaryotic translation initiation factor 2G"""	300161	"""eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"""	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.1348C>T	X.37:g.24091373C>T	ENSP00000253039:p.His450Tyr					EIF2S3_ENST00000460032.1_3'UTR	p.H450Y	NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN			11	1601	+			450					B5BTZ4	Missense_Mutation	SNP	ENST00000253039.4	37	c.1348C>T	CCDS14210.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601286	0.87055	.	.	ENSG00000130741	ENST00000253039	T	0.65916	-0.18	4.97	4.97	0.65823	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation initiation factor 2, gamma subunit, C-terminal (1);	0.000000	0.85682	U	0.000000	D	0.83788	0.5330	H	0.94734	3.575	0.80722	D	1	D	0.58970	0.984	P	0.62560	0.904	D	0.89111	0.3496	10	0.87932	D	0	.	17.6173	0.88071	0.0:1.0:0.0:0.0	.	450	P41091	IF2G_HUMAN	Y	450	ENSP00000253039:H450Y	ENSP00000253039:H450Y	H	+	1	0	EIF2S3	24001294	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.403000	0.79983	2.176000	0.68965	0.594000	0.82650	CAC		0.398	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056079.1	NM_001415		22	48	0	0	0	1	0	22	48				
KRTAP10-3	386682	broad.mit.edu	37	21	45978218	45978218	+	Silent	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr21:45978218G>A	ENST00000391620.1	-	1	425	c.381C>T	c.(379-381)ccC>ccT	p.P127P	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	127	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						CAGAgcagacgggcacacagc	0.657																																						ENST00000391620.1																			0				kidney(1)|lung(4)|prostate(1)|skin(1)	7						c.(379-381)ccC>ccT		keratin associated protein 10-3							161.0	162.0	162.0					21																	45978218		2203	4300	6503	SO:0001819	synonymous_variant	386682					keratin filament		g.chr21:45978218G>A	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.381C>T	21.37:g.45978218G>A						TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	p.P127P	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN			1	425	-			127			18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Silent	SNP	ENST00000391620.1	37	c.381C>T	CCDS42956.1																																																																																				0.657	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			5	457	0	0	0	1	0	5	457				
ACSL6	23305	broad.mit.edu	37	5	131303709	131303709	+	Missense_Mutation	SNP	G	G	A	rs575021630		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr5:131303709G>A	ENST00000379240.1	-	16	1598	c.1445C>T	c.(1444-1446)gCg>gTg	p.A482V	ACSL6_ENST00000379264.2_Missense_Mutation_p.A507V|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000431707.1_Missense_Mutation_p.A462V|ACSL6_ENST00000544770.1_Missense_Mutation_p.A391V|ACSL6_ENST00000357096.1_Missense_Mutation_p.A407V|ACSL6_ENST00000379244.1_Missense_Mutation_p.A482V|ACSL6_ENST00000379272.2_Missense_Mutation_p.A497V|ACSL6_ENST00000296869.4_Missense_Mutation_p.A507V|ACSL6_ENST00000379246.1_Missense_Mutation_p.A493V|ACSL6_ENST00000379255.1_Missense_Mutation_p.A407V|ACSL6_ENST00000543479.1_Missense_Mutation_p.A482V|ACSL6_ENST00000379249.3_Missense_Mutation_p.A482V			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	482					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGAAGTGGCGCCCCTACGTG	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		15686	0.0		0.0	False		,,,				2504	0.001					ENST00000379264.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(1519-1521)gCg>gTg		acyl-CoA synthetase long-chain family member 6							175.0	148.0	157.0					5																	131303709		2203	4300	6503	SO:0001583	missense	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131303709G>A	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1445C>T	5.37:g.131303709G>A	ENSP00000368542:p.Ala482Val					AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379272.2_Missense_Mutation_p.A497V|ACSL6_ENST00000379244.1_Missense_Mutation_p.A482V|ACSL6_ENST00000357096.1_Missense_Mutation_p.A407V|ACSL6_ENST00000544770.1_Missense_Mutation_p.A391V|ACSL6_ENST00000379255.1_Missense_Mutation_p.A407V|ACSL6_ENST00000379249.3_Missense_Mutation_p.A482V|ACSL6_ENST00000379240.1_Missense_Mutation_p.A482V|ACSL6_ENST00000431707.1_Missense_Mutation_p.A462V|ACSL6_ENST00000543479.1_Missense_Mutation_p.A482V|ACSL6_ENST00000379246.1_Missense_Mutation_p.A493V|ACSL6_ENST00000296869.4_Missense_Mutation_p.A507V	p.A507V	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	1628	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	482					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37	c.1520C>T		.	.	.	.	.	.	.	.	.	.	G	13.85	2.359359	0.41801	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	T;T;T;T;T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.43	5.43	0.79202	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.40473	0.1118	L	0.46885	1.475	0.80722	D	1	P;P;P;P;B;P;P	0.36990	0.479;0.469;0.577;0.535;0.276;0.521;0.521	B;B;B;B;B;B;B	0.35312	0.126;0.052;0.053;0.2;0.031;0.087;0.054	T	0.20405	-1.0276	10	0.36615	T	0.2	.	19.6103	0.95602	0.0:0.0:1.0:0.0	.	482;497;472;482;407;507;507	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	V	482;507;497;407;407;507;493;482;391;482;462;482	ENSP00000368551:A482V;ENSP00000368566:A507V;ENSP00000368574:A497V;ENSP00000349608:A407V;ENSP00000368557:A407V;ENSP00000296869:A507V;ENSP00000368548:A493V;ENSP00000368546:A482V;ENSP00000445154:A391V;ENSP00000368542:A482V;ENSP00000413329:A462V;ENSP00000442124:A482V	ENSP00000296869:A507V	A	-	2	0	ACSL6	131331608	1.000000	0.71417	0.669000	0.29828	0.291000	0.27294	7.976000	0.88070	2.718000	0.92993	0.585000	0.79938	GCG		0.478	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		4	116	0	0	0	1	0	4	116				
HOXC4	3221	broad.mit.edu	37	12	54448820	54448820	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:54448820T>A	ENST00000430889.2	+	2	672	c.626T>A	c.(625-627)aTg>aAg	p.M209K	HOXC4_ENST00000609810.1_Missense_Mutation_p.M209K|HOXC4_ENST00000303406.4_Missense_Mutation_p.M209K	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	209					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						AACCGTCGCATGAAATGGAAG	0.592																																						ENST00000430889.2																			0				cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(625-627)aTg>aAg		homeobox C4							34.0	33.0	33.0					12																	54448820		2203	4300	6503	SO:0001583	missense	3221					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54448820T>A		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.626T>A	12.37:g.54448820T>A	ENSP00000399808:p.Met209Lys					HOXC4_ENST00000303406.4_Missense_Mutation_p.M209K	p.M209K	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN			2	672	+			209						Missense_Mutation	SNP	ENST00000430889.2	37	c.626T>A	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.191517	0.58017	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	D;D	0.96365	-3.99;-3.99	3.54	3.54	0.40534	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98698	0.9563	H	0.97918	4.105	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98745	1.0718	10	0.87932	D	0	.	11.5016	0.50441	0.0:0.0:0.0:1.0	.	209	P09017	HXC4_HUMAN	K	209	ENSP00000305973:M209K;ENSP00000399808:M209K	ENSP00000305973:M209K	M	+	2	0	HOXC4	52735087	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.819000	0.86621	1.614000	0.50241	0.368000	0.22195	ATG		0.592	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			5	41	0	0	0	1	0	5	41				
TRIM34	53840	broad.mit.edu	37	11	5664829	5664829	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:5664829G>A	ENST00000514226.1	+	8	1694	c.1357G>A	c.(1357-1359)Ggc>Agc	p.G453S	TRIM34_ENST00000429814.2_Missense_Mutation_p.G453S|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.G807S|TRIM34_ENST00000495668.1_3'UTR|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.G453S	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	453	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACAAGCCATGGCTCCCTCAT	0.473																																						ENST00000354852.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33						c.(2419-2421)Ggc>Agc									149.0	144.0	146.0					11																	5664829		2201	4297	6498	SO:0001583	missense	445372					intracellular	zinc ion binding	g.chr11:5664829G>A	AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.1357G>A	11.37:g.5664829G>A	ENSP00000422947:p.Gly453Ser					TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.G453S|TRIM34_ENST00000495668.1_3'UTR|TRIM34_ENST00000514226.1_Missense_Mutation_p.G453S|TRIM34_ENST00000429814.2_Missense_Mutation_p.G453S|HBG2_ENST00000380259.2_Intron	p.G807S	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	14	2592	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	807					D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	c.2419G>A	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.959240	0.53400	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	2.99	2.07	0.26955	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.33813	N	0.004526	T	0.74298	0.3698	M	0.67397	2.05	0.09310	N	1	P;D	0.89917	0.859;1.0	P;D	0.85130	0.842;0.997	T	0.60627	-0.7226	10	0.41790	T	0.15	.	5.8472	0.18673	0.149:0.0:0.851:0.0	.	453;807	Q9BYJ4;B2RNG4	TRI34_HUMAN;.	S	807;453;453;453;807	ENSP00000422947:G453S;ENSP00000402595:G453S;ENSP00000395982:G453S;ENSP00000346916:G807S	ENSP00000402595:G453S	G	+	1	0	TRIM34;TRIM6-TRIM34	5621405	0.000000	0.05858	0.709000	0.30452	0.836000	0.47400	0.407000	0.21049	0.826000	0.34661	0.467000	0.42956	GGC		0.473	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827		28	183	0	0	0	1	0	28	183				
OR8A1	390275	broad.mit.edu	37	11	124440375	124440375	+	Silent	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:124440375C>T	ENST00000284287.3	+	1	483	c.411C>T	c.(409-411)taC>taT	p.Y137Y		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	137					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TGATGGCCTACGACCGCTATG	0.493																																						ENST00000284287.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22						c.(409-411)taC>taT		olfactory receptor, family 8, subfamily A, member 1							172.0	143.0	153.0					11																	124440375		2201	4299	6500	SO:0001819	synonymous_variant	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440375C>T	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.411C>T	11.37:g.124440375C>T							p.Y137Y	NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	483	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	137					Q6IEW7|Q96RC6	Silent	SNP	ENST00000284287.3	37	c.411C>T	CCDS31712.1																																																																																				0.493	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		13	89	0	0	0	1	0	13	89				
BCL11A	53335	broad.mit.edu	37	2	60679703	60679703	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:60679703A>C	ENST00000359629.5	-	5	1025	c.729T>G	c.(727-729)atT>atG	p.I243M	BCL11A_ENST00000356842.4_3'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.I793M|BCL11A_ENST00000537768.1_3'UTR	NM_138559.1	NP_612569.1	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	0					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGGGGCTTCAAATTTTCTCAG	0.547			T	IGH@	B-CLL																																	ENST00000538214.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(2377-2379)atT>atG		B-cell CLL/lymphoma 11A (zinc finger protein)							68.0	74.0	72.0					2																	60679703		2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60679703A>C	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000359629.5:c.729T>G	2.37:g.60679703A>C	ENSP00000352648:p.Ile243Met					BCL11A_ENST00000537768.1_3'UTR|BCL11A_ENST00000356842.4_3'UTR|BCL11A_ENST00000359629.5_Missense_Mutation_p.I243M	p.I793M			Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2513	-			0					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000359629.5	37	c.2379T>G	CCDS46295.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.820152	0.50633	.	.	ENSG00000119866	ENST00000359629;ENST00000538214	T	0.05925	3.37	5.92	0.0541	0.14309	.	.	.	.	.	T	0.04952	0.0133	.	.	.	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.30416	-0.9979	8	0.62326	D	0.03	.	4.3682	0.11235	0.4195:0.4028:0.0759:0.1017	.	793;243	F5H2Y4;Q9H165-3	.;.	M	243;793	ENSP00000438303:I793M	ENSP00000352648:I243M	I	-	3	3	BCL11A	60533207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.683000	0.25349	0.459000	0.27016	0.528000	0.53228	ATT		0.547	BCL11A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325349.2	NM_022893		14	133	0	0	0	1	0	14	133				
ARMC6	93436	broad.mit.edu	37	19	19153677	19153677	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr19:19153677G>A	ENST00000535612.1	+	3	619	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	ARMC6_ENST00000546344.1_Intron|ARMC6_ENST00000392336.3_Missense_Mutation_p.E63K|ARMC6_ENST00000392335.2_Missense_Mutation_p.E38K|ARMC6_ENST00000269932.6_Missense_Mutation_p.E38K	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	63					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GGAGCAGTTTGAATCGCAAGG	0.602																																						ENST00000535612.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14						c.(187-189)Gaa>Aaa		armadillo repeat containing 6							194.0	163.0	174.0					19																	19153677		2203	4300	6503	SO:0001583	missense	93436						protein binding	g.chr19:19153677G>A	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.187G>A	19.37:g.19153677G>A	ENSP00000444156:p.Glu63Lys					ARMC6_ENST00000546344.1_Intron|ARMC6_ENST00000269932.6_Missense_Mutation_p.E38K|ARMC6_ENST00000392335.2_Missense_Mutation_p.E38K|ARMC6_ENST00000392336.3_Missense_Mutation_p.E63K	p.E63K	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		3	619	+			63					B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	37	c.187G>A	CCDS56089.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063266	0.36373	.	.	ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000537263;ENST00000541725;ENST00000269932;ENST00000540792;ENST00000536098;ENST00000541898;ENST00000545190;ENST00000538663;ENST00000392336	T;T;T;T	0.35048	1.35;1.33;1.35;1.33	5.16	4.1	0.47936	.	0.050802	0.85682	D	0.000000	T	0.37265	0.0997	L	0.53729	1.69	0.80722	D	1	P	0.44986	0.847	B	0.41813	0.367	T	0.29792	-1.0000	10	0.52906	T	0.07	-19.3702	14.8107	0.69992	0.0:0.2714:0.7286:0.0	.	63	Q6NXE6	ARMC6_HUMAN	K	38;63;38;63;38;38;38;38;38;38;63	ENSP00000376147:E38K;ENSP00000444156:E63K;ENSP00000269932:E38K;ENSP00000376148:E63K	ENSP00000269932:E38K	E	+	1	0	ARMC6	19014677	1.000000	0.71417	0.949000	0.38748	0.851000	0.48451	6.213000	0.72194	1.133000	0.42147	0.561000	0.74099	GAA		0.602	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		10	102	0	0	0	1	0	10	102				
FCGBP	8857	broad.mit.edu	37	19	40398375	40398375	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr19:40398375G>A	ENST00000221347.6	-	14	6599	c.6592C>T	c.(6592-6594)Cgc>Tgc	p.R2198C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2198	VWFD 5. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCGGCACGCGCAGGCGCACG	0.697																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(6592-6594)Cgc>Tgc		Fc fragment of IgG binding protein							48.0	56.0	53.0					19																	40398375		2045	3869	5914	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40398375G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.6592C>T	19.37:g.40398375G>A	ENSP00000221347:p.Arg2198Cys						p.R2198C	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		14	6599	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2198			VWFD 5.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.6592C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209001	0.39003	.	.	ENSG00000090920	ENST00000221347	T	0.59906	0.23	2.17	2.17	0.27698	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.66336	0.2779	M	0.87971	2.92	0.38573	D	0.949997	D	0.76494	0.999	P	0.51918	0.684	T	0.71774	-0.4491	9	0.56958	D	0.05	.	6.6822	0.23127	0.0:0.0:0.5555:0.4445	.	2198	Q9Y6R7	FCGBP_HUMAN	C	2198	ENSP00000221347:R2198C	ENSP00000221347:R2198C	R	-	1	0	FCGBP	45090215	0.007000	0.16637	0.999000	0.59377	0.823000	0.46562	0.935000	0.28924	1.529000	0.49120	0.479000	0.44913	CGC		0.697	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		4	74	0	0	0	1	0	4	74				
KDM5C	8242	broad.mit.edu	37	X	53246350	53246350	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chrX:53246350C>G	ENST00000375401.3	-	5	1164	c.632G>C	c.(631-633)cGg>cCg	p.R211P	KDM5C_ENST00000375379.3_Missense_Mutation_p.R211P|KDM5C_ENST00000452825.3_Missense_Mutation_p.R144P|KDM5C_ENST00000375383.3_Missense_Mutation_p.R170P|KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000404049.3_Missense_Mutation_p.R210P	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	211					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CTTGGCCCGCCGGCCATAGCT	0.532			"""N, F, S"""		clear cell renal carcinoma																																	ENST00000452825.3				Rec	yes		X	Xp11.22-p11.21	8242	"""N, F, S"""	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(430-432)cGg>cCg		lysine (K)-specific demethylase 5C							124.0	90.0	101.0					X																	53246350		2203	4300	6503	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53246350C>G	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.632G>C	X.37:g.53246350C>G	ENSP00000364550:p.Arg211Pro					KDM5C_ENST00000404049.3_Missense_Mutation_p.R210P|KDM5C_ENST00000375379.3_Missense_Mutation_p.R211P|KDM5C_ENST00000375401.3_Missense_Mutation_p.R211P|KDM5C_ENST00000375383.3_Missense_Mutation_p.R170P	p.R144P	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN			3	963	-			211			ARID.		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.431G>C	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502159	0.85176	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.89415	-2.51;-2.08;-2.06;-2.08;-2.34	5.47	5.47	0.80525	.	0.113564	0.64402	D	0.000011	D	0.94538	0.8241	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.74348	0.983;0.956;0.979	D	0.95219	0.8332	10	0.87932	D	0	-18.7932	15.6711	0.77274	0.0:1.0:0.0:0.0	.	144;210;211	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	P	144;211;210;211;170	ENSP00000445176:R144P;ENSP00000364550:R211P;ENSP00000385394:R210P;ENSP00000364528:R211P;ENSP00000364532:R170P	ENSP00000364528:R211P	R	-	2	0	KDM5C	53263075	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.792000	0.85828	2.296000	0.77279	0.529000	0.55759	CGG		0.532	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		9	8	0	0	0	1	0	9	8				
STXBP5L	9515	broad.mit.edu	37	3	120998674	120998674	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:120998674G>A	ENST00000273666.6	+	19	2252	c.1981G>A	c.(1981-1983)Ggg>Agg	p.G661R	STXBP5L_ENST00000497029.1_Missense_Mutation_p.G661R|STXBP5L_ENST00000471454.1_Missense_Mutation_p.G661R|STXBP5L_ENST00000472879.1_Missense_Mutation_p.G661R|STXBP5L_ENST00000492541.1_Missense_Mutation_p.G661R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	661					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAACTGCAATGGGTTGGCTGT	0.373																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1981-1983)Ggg>Agg		syntaxin binding protein 5-like							167.0	158.0	161.0					3																	120998674		1882	4100	5982	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120998674G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1981G>A	3.37:g.120998674G>A	ENSP00000273666:p.Gly661Arg					STXBP5L_ENST00000492541.1_Missense_Mutation_p.G661R|STXBP5L_ENST00000472879.1_Missense_Mutation_p.G661R|STXBP5L_ENST00000497029.1_Missense_Mutation_p.G661R|STXBP5L_ENST00000471454.1_Missense_Mutation_p.G661R	p.G661R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	19	2252	+			661					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1981G>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523240	0.85600	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.73469	0.75;-0.75;-0.75;0.03;-0.75;-0.75	5.68	5.68	0.88126	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85102	0.5620	M	0.84082	2.675	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.60949	0.881;0.845	D	0.86992	0.2111	10	0.87932	D	0	-21.6063	14.0013	0.64436	0.0721:0.0:0.9279:0.0	.	661;661	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	R	661	ENSP00000273666:G661R;ENSP00000420019:G661R;ENSP00000419627:G661R;ENSP00000420287:G661R;ENSP00000420666:G661R;ENSP00000420167:G661R	ENSP00000273666:G661R	G	+	1	0	STXBP5L	122481364	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.029000	0.88807	2.676000	0.91093	0.563000	0.77884	GGG		0.373	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			34	105	0	0	0	1	0	34	105				
SDK2	54549	broad.mit.edu	37	17	71427676	71427676	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:71427676C>T	ENST00000392650.3	-	11	1445	c.1445G>A	c.(1444-1446)gGg>gAg	p.G482E	SDK2_ENST00000388726.3_Missense_Mutation_p.G482E	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	482	Ig-like C2-type 5.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTCATCGACCCCCCGAGAGTT	0.602																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(1444-1446)gGg>gAg		sidekick cell adhesion molecule 2							157.0	154.0	155.0					17																	71427676		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71427676C>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1445G>A	17.37:g.71427676C>T	ENSP00000376421:p.Gly482Glu					SDK2_ENST00000388726.3_Missense_Mutation_p.G482E	p.G482E	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			11	1445	-			482			Ig-like C2-type 5.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.1445G>A	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933305	0.73442	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	D;D	0.98296	-4.85;-4.85	4.93	4.93	0.64822	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.132440	0.51477	D	0.000099	D	0.99052	0.9675	M	0.90252	3.1	0.80722	D	1	P;D	0.54397	0.933;0.966	P;D	0.64877	0.54;0.93	D	0.99612	1.0981	10	0.87932	D	0	.	17.729	0.88372	0.0:1.0:0.0:0.0	.	482;482	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	E	106;482;482;482	ENSP00000376421:G482E;ENSP00000373378:G482E	ENSP00000324967:G482E	G	-	2	0	SDK2	68939271	1.000000	0.71417	0.986000	0.45419	0.856000	0.48823	7.064000	0.76721	2.269000	0.75478	0.467000	0.42956	GGG		0.602	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		35	263	0	0	0	1	0	35	263				
FAT3	120114	broad.mit.edu	37	11	92531811	92531811	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:92531811G>C	ENST00000298047.6	+	9	5649	c.5632G>C	c.(5632-5634)Gat>Cat	p.D1878H	FAT3_ENST00000409404.2_Missense_Mutation_p.D1878H|FAT3_ENST00000525166.1_Missense_Mutation_p.D1728H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1878	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGATGTGAATGATAACCCACC	0.458										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(5632-5634)Gat>Cat		FAT atypical cadherin 3							142.0	126.0	131.0					11																	92531811		1973	4165	6138	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531811G>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5632G>C	11.37:g.92531811G>C	ENSP00000298047:p.Asp1878His	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.D1728H|FAT3_ENST00000409404.2_Missense_Mutation_p.D1878H	p.D1878H			Q8TDW7	FAT3_HUMAN			9	5649	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1878			Cadherin 16.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.5632G>C		.	.	.	.	.	.	.	.	.	.	G	18.12	3.552274	0.65311	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.72051	-0.62;-0.62;-0.62	5.82	5.82	0.92795	.	.	.	.	.	D	0.92057	0.7483	H	0.99444	4.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95010	0.8151	9	0.87932	D	0	.	20.0979	0.97857	0.0:0.0:1.0:0.0	.	1878	Q8TDW7-3	.	H	1878;1878;1728	ENSP00000298047:D1878H;ENSP00000387040:D1878H;ENSP00000432586:D1728H	ENSP00000298047:D1878H	D	+	1	0	FAT3	92171459	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.787000	0.99055	2.761000	0.94854	0.591000	0.81541	GAT		0.458	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	43	0	0	0	1	0	4	43				
DRAM2	128338	broad.mit.edu	37	1	111661446	111661446	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:111661446G>A	ENST00000286692.4	-	8	1291	c.674C>T	c.(673-675)aCt>aTt	p.T225I	DRAM2_ENST00000539140.1_Missense_Mutation_p.T225I|DRAM2_ENST00000484310.1_5'UTR			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	225					apoptotic process (GO:0006915)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|microtubule cytoskeleton (GO:0015630)				endometrium(1)|large_intestine(5)|lung(3)	9						ACGAATGTAAGTCAGGAAAAA	0.373																																						ENST00000286692.4																			0				endometrium(1)|large_intestine(5)|lung(3)	9						c.(673-675)aCt>aTt		DNA-damage regulated autophagy modulator 2							70.0	65.0	67.0					1																	111661446		2202	4300	6502	SO:0001583	missense	128338				apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane		g.chr1:111661446G>A	AY336747	CCDS30801.1	1p13.3	2010-07-08	2009-06-12	2009-06-12	ENSG00000156171	ENSG00000156171			28769	protein-coding gene	gene with protein product		613360	"""transmembrane protein 77"""	TMEM77		12975309	Standard	NM_178454		Approved	MGC54289, PRO180, WWFQ154, RP5-1180E21.1	uc001ead.4	Q6UX65	OTTHUMG00000011911	ENST00000286692.4:c.674C>T	1.37:g.111661446G>A	ENSP00000286692:p.Thr225Ile					DRAM2_ENST00000539140.1_Missense_Mutation_p.T225I|DRAM2_ENST00000484310.1_5'UTR	p.T225I			Q6UX65	DRAM2_HUMAN			8	1291	-			225					B3SUG9|Q4VWF6|Q86VD3|Q8NBQ4	Missense_Mutation	SNP	ENST00000286692.4	37	c.674C>T	CCDS30801.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436436	0.83885	.	.	ENSG00000156171	ENST00000286692;ENST00000539140	T;T	0.48836	0.8;0.8	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.68988	0.3061	M	0.87456	2.885	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.72937	-0.4140	10	0.87932	D	0	-21.6508	16.0536	0.80779	0.0:0.0:1.0:0.0	.	225	Q6UX65	DRAM2_HUMAN	I	225	ENSP00000286692:T225I;ENSP00000437718:T225I	ENSP00000286692:T225I	T	-	2	0	DRAM2	111462969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.408000	0.80041	2.937000	0.99478	0.650000	0.86243	ACT		0.373	DRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032930.3	NM_178454		6	18	0	0	0	1	0	6	18				
SLC6A4	6532	broad.mit.edu	37	17	28548857	28548857	+	Silent	SNP	G	G	A	rs145558656		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:28548857G>A	ENST00000401766.2	-	2	632	c.120C>T	c.(118-120)tcC>tcT	p.S40S	SLC6A4_ENST00000261707.3_Silent_p.S40S			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	40					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	ATATTTGCCCGGACTCCACTT	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		17649	0.0		0.0	False		,,,				2504	0.001					ENST00000401766.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25						c.(118-120)tcC>tcT		solute carrier family 6 (neurotransmitter transporter), member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	G		0,4406		0,0,2203	166.0	149.0	155.0		120	-11.7	0.0	17	dbSNP_134	155	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC6A4	NM_001045.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		40/631	28548857	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28548857G>A	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.120C>T	17.37:g.28548857G>A						SLC6A4_ENST00000261707.3_Silent_p.S40S	p.S40S			P31645	SC6A4_HUMAN			2	632	-			40					Q5EE02	Silent	SNP	ENST00000401766.2	37	c.120C>T	CCDS11256.1																																																																																				0.537	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		4	203	0	0	0	1	0	4	203				
MROH2B	133558	broad.mit.edu	37	5	41038885	41038885	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr5:41038885G>C	ENST00000399564.4	-	21	2617	c.2167C>G	c.(2167-2169)Caa>Gaa	p.Q723E	MROH2B_ENST00000506092.2_Missense_Mutation_p.Q278E	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	723																	ATGATATCTTGATTAAGTCTG	0.483																																						ENST00000399564.4																			0											c.(2167-2169)Caa>Gaa		maestro heat-like repeat family member 2B							67.0	68.0	68.0					5																	41038885		1941	4140	6081	SO:0001583	missense	133558							g.chr5:41038885G>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2167C>G	5.37:g.41038885G>C	ENSP00000382476:p.Gln723Glu					MROH2B_ENST00000506092.2_Missense_Mutation_p.Q278E	p.Q723E	NM_173489.4	NP_775760.3					21	2617	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2167C>G	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	5.874	0.345417	0.11126	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.67523	5.01;-0.27	5.73	2.73	0.32206	Armadillo-type fold (1);	0.407810	0.21058	N	0.080873	T	0.51753	0.1693	L	0.44542	1.39	0.22412	N	0.999121	B	0.06786	0.001	B	0.09377	0.004	T	0.30179	-0.9987	10	0.11485	T	0.65	.	8.909	0.35541	0.0:0.1432:0.5622:0.2947	.	723	Q7Z745	HTRB2_HUMAN	E	278;428;723	ENSP00000441504:Q278E;ENSP00000382476:Q723E	ENSP00000296803:Q428E	Q	-	1	0	HEATR7B2	41074642	0.253000	0.23982	0.703000	0.30354	0.047000	0.14425	0.269000	0.18589	0.834000	0.34852	-0.176000	0.13171	CAA		0.483	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		12	46	0	0	0	1	0	12	46				
IKBKB	3551	broad.mit.edu	37	8	42179463	42179463	+	Splice_Site	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr8:42179463G>T	ENST00000520810.1	+	17	1924	c.1738G>T	c.(1738-1740)Gac>Tac	p.D580Y	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Splice_Site_p.D578Y|IKBKB_ENST00000416505.2_Splice_Site_p.D521Y|IKBKB_ENST00000379708.3_Splice_Site_p.D357Y	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	580					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AAAACCTCGAGGTAAGTGGGG	0.463																																						ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.e17+1		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						119.0	128.0	125.0					8																	42179463		2203	4300	6503	SO:0001630	splice_region_variant	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42179463G>T	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1738+1G>T	8.37:g.42179463G>T						IKBKB_ENST00000379708.3_Splice_Site_p.D357_splice|IKBKB_ENST00000416505.2_Splice_Site_p.D521_splice|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Splice_Site_p.D578_splice	p.D580_splice	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		17	1924	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	580					B4DZ30|B4E0U4|O75327	Splice_Site	SNP	ENST00000520810.1	37	c.1738_splice	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387695	0.61956	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.50701	0.1631	L	0.56769	1.78	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.993;1.0;0.988	D;P;D;P	0.85130	0.95;0.905;0.997;0.805	T	0.46289	-0.9202	10	0.72032	D	0.01	.	19.5368	0.95256	0.0:0.0:1.0:0.0	.	521;578;357;580	B4E0U4;O14920-2;B3KRB7;O14920	.;.;.;IKKB_HUMAN	Y	580;521;578;357	ENSP00000430684:D580Y;ENSP00000404920:D521Y;ENSP00000430868:D578Y;ENSP00000369030:D357Y	ENSP00000369030:D357Y	D	+	1	0	IKBKB	42298620	1.000000	0.71417	0.999000	0.59377	0.025000	0.11179	6.073000	0.71245	2.720000	0.93068	0.655000	0.94253	GAC		0.463	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1		Missense_Mutation	14	55	1	0	3.27435e-08	1	3.58409e-08	14	55				
TRAPPC9	83696	broad.mit.edu	37	8	140743397	140743397	+	Silent	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr8:140743397G>T	ENST00000438773.2	-	23	3487	c.3354C>A	c.(3352-3354)atC>atA	p.I1118I	TRAPPC9_ENST00000522504.1_5'UTR|TRAPPC9_ENST00000389327.3_Silent_p.I1109I|TRAPPC9_ENST00000389328.4_Silent_p.I1216I	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	1118					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CGTGGAACCGGATGTGGAGGA	0.657																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(3646-3648)atC>atA		trafficking protein particle complex 9							88.0	77.0	80.0					8																	140743397		2203	4300	6503	SO:0001819	synonymous_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:140743397G>T	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.3354C>A	8.37:g.140743397G>T						TRAPPC9_ENST00000438773.2_Silent_p.I1118I|TRAPPC9_ENST00000389327.3_Silent_p.I1109I|TRAPPC9_ENST00000522504.1_5'UTR	p.I1216I	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			23	3662	-			1118					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	c.3648C>A	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409352	0.25378	.	.	ENSG00000167632	ENST00000520857	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	T	0.61540	0.2355	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59804	-0.7385	4	.	.	.	.	10.7312	0.46098	0.0871:0.0:0.9129:0.0	.	.	.	.	T	962	.	.	P	-	1	0	TRAPPC9	140812579	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	4.108000	0.57817	2.271000	0.75665	0.655000	0.94253	CCG		0.657	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		15	73	1	0	6.72482e-11	1	7.61833e-11	15	73				
PIEZO1	9780	broad.mit.edu	37	16	88780174	88780174	+	IGR	SNP	C	C	T	rs528392088		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr16:88780174C>T	ENST00000301015.9	-	0	8072				CTU2_ENST00000312060.5_Silent_p.A331A|CTU2_ENST00000453996.2_Silent_p.A331A|CTU2_ENST00000567949.1_Silent_p.A402A|CTU2_ENST00000378384.3_Silent_p.A244A|MIR4722_ENST00000578292.1_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						TCACACCAGCCGTCGACACCA	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20300	0.0		0.0	False		,,,				2504	0.0					ENST00000567949.1																			0				NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1204-1206)gcC>gcT		cytosolic thiouridylase subunit 2 homolog (S. pombe)							118.0	113.0	115.0					16																	88780174		2195	4298	6493	SO:0001628	intergenic_variant	348180				tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding	g.chr16:88780174C>T	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88780174C>T						CTU2_ENST00000378384.3_Silent_p.A244A|CTU2_ENST00000453996.2_Silent_p.A331A|CTU2_ENST00000312060.5_Silent_p.A331A	p.A402A			Q2VPK5	CTU2_HUMAN			9	1215	+			331					A6NHT9|A7E2B7|Q0KKZ9	Silent	SNP	ENST00000301015.9	37	c.1206C>T	CCDS54058.1																																																																																				0.637	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		6	227	0	0	0	1	0	6	227				
FAT1	2195	broad.mit.edu	37	4	187542357	187542357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr4:187542357G>A	ENST00000441802.2	-	10	5592	c.5383C>T	c.(5383-5385)Cga>Tga	p.R1795*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1795	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCAGCTGCTCGAATCACCAGT	0.428										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(5383-5385)Cga>Tga		FAT atypical cadherin 1							89.0	85.0	86.0					4																	187542357		1976	4165	6141	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187542357G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5383C>T	4.37:g.187542357G>A	ENSP00000406229:p.Arg1795*	HNSCC(5;0.00058)					p.R1795*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	5592	-			1795			Cadherin 16.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.5383C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	43	10.275781	0.99373	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.5	4.66	0.58398	.	0.122272	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	11.5588	0.50764	0.0:0.135:0.7245:0.1405	.	.	.	.	X	1795;1797	.	ENSP00000260147:R1797X	R	-	1	2	FAT1	187779351	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	5.448000	0.66612	1.556000	0.49512	-0.150000	0.13652	CGA		0.428	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		13	46	0	0	0	1	0	13	46				
FAR1	84188	broad.mit.edu	37	11	13733566	13733566	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:13733566C>T	ENST00000354817.3	+	7	1004	c.860C>T	c.(859-861)gCg>gTg	p.A287V	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	287					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						ATGAGTCTTGCGGCAGCCTGG	0.408																																						ENST00000354817.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(859-861)gCg>gTg		fatty acyl CoA reductase 1							100.0	91.0	94.0					11																	13733566		2200	4293	6493	SO:0001583	missense	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13733566C>T	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.860C>T	11.37:g.13733566C>T	ENSP00000346874:p.Ala287Val					FAR1_ENST00000527202.1_3'UTR	p.A287V	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN			7	1004	+			287					D3DQW8|Q5CZA3	Missense_Mutation	SNP	ENST00000354817.3	37	c.860C>T	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007143	0.75046	.	.	ENSG00000197601	ENST00000354817;ENST00000532701;ENST00000355107	T;T	0.31510	1.49;1.49	5.36	5.36	0.76844	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.29749	0.0743	L	0.59436	1.845	0.80722	D	1	B;P	0.50943	0.118;0.94	B;B	0.35813	0.035;0.211	T	0.14117	-1.0484	10	0.31617	T	0.26	-6.6667	18.6669	0.91493	0.0:1.0:0.0:0.0	.	287;287	E7ETC1;Q8WVX9	.;FACR1_HUMAN	V	287	ENSP00000346874:A287V;ENSP00000437111:A287V	ENSP00000346874:A287V	A	+	2	0	FAR1	13690142	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.487000	0.81328	2.493000	0.84123	0.591000	0.81541	GCG		0.408	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	NM_032228		4	77	0	0	0	1	0	4	77				
ZNF319	57567	broad.mit.edu	37	16	58031223	58031223	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr16:58031223C>T	ENST00000299237.2	-	2	1569	c.947G>A	c.(946-948)cGc>cAc	p.R316H	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	316					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CTCGCCGCAGCGGAAGGGCCG	0.672																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(946-948)cGc>cAc		zinc finger protein 319							28.0	29.0	28.0					16																	58031223		2198	4298	6496	SO:0001583	missense	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58031223C>T	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.947G>A	16.37:g.58031223C>T	ENSP00000299237:p.Arg316His						p.R316H	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN			2	1569	-			316					Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.947G>A	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387716	0.42308	.	.	ENSG00000166188	ENST00000299237	T	0.03065	4.06	5.13	4.19	0.49359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.09335	0.0230	L	0.31065	0.9	0.51767	D	0.999938	D	0.89917	1.0	D	0.67382	0.951	T	0.09840	-1.0656	10	0.72032	D	0.01	-40.7795	12.6725	0.56874	0.0:0.9201:0.0:0.0799	.	316	Q9P2F9	ZN319_HUMAN	H	316	ENSP00000299237:R316H	ENSP00000299237:R316H	R	-	2	0	ZNF319	56588724	1.000000	0.71417	1.000000	0.80357	0.101000	0.19017	3.214000	0.51161	1.176000	0.42840	-0.136000	0.14681	CGC		0.672	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			5	33	0	0	0	1	0	5	33				
SH3BP2	6452	broad.mit.edu	37	4	2831401	2831401	+	Silent	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr4:2831401G>A	ENST00000356331.5	+	8	1029	c.768G>A	c.(766-768)agG>agA	p.R256R	SH3BP2_ENST00000503393.2_Silent_p.R313R|SH3BP2_ENST00000435136.2_Silent_p.R256R|SH3BP2_ENST00000511747.1_Silent_p.R256R|SH3BP2_ENST00000442312.2_Silent_p.R284R|SH3BP2_ENST00000452765.2_Silent_p.R256R|SH3BP2_ENST00000515183.1_3'UTR	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	256					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ACTCCAAGAGGGACCCACTGT	0.687									Cherubism																													ENST00000442312.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20						c.(850-852)agG>agA		SH3-domain binding protein 2							41.0	46.0	44.0					4																	2831401		2203	4300	6503	SO:0001819	synonymous_variant	6452	Cherubism	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	signal transduction		SH3 domain binding|SH3/SH2 adaptor activity	g.chr4:2831401G>A	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	10825	protein-coding gene	gene with protein product		602104	"""Cherubism"""			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.768G>A	4.37:g.2831401G>A						SH3BP2_ENST00000511747.1_Silent_p.R256R|SH3BP2_ENST00000435136.2_Silent_p.R256R|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000503393.2_Silent_p.R313R|SH3BP2_ENST00000356331.5_Silent_p.R256R|SH3BP2_ENST00000452765.2_Silent_p.R256R	p.R284R	NM_001145855.1	NP_001139327.1	P78314	3BP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	8	1031	+			256					A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Silent	SNP	ENST00000356331.5	37	c.852G>A	CCDS33944.1																																																																																				0.687	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023		16	70	0	0	0	1	0	16	70				
METTL22	79091	broad.mit.edu	37	16	8736373	8736373	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr16:8736373G>T	ENST00000381920.3	+	9	1219	c.961G>T	c.(961-963)Gcc>Tcc	p.A321S	METTL22_ENST00000568967.1_3'UTR|METTL22_ENST00000561758.1_Missense_Mutation_p.A265S	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	321						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			large_intestine(5)|lung(4)	9						CTCCCGACTCGCCCACAGATT	0.517																																						ENST00000381920.3																			0				large_intestine(5)|lung(4)	9						c.(961-963)Gcc>Tcc		methyltransferase like 22							184.0	195.0	191.0					16																	8736373		2043	4189	6232	SO:0001583	missense	79091						methyltransferase activity	g.chr16:8736373G>T	AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"""chromosome 16 open reading frame 68"""	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.961G>T	16.37:g.8736373G>T	ENSP00000371345:p.Ala321Ser					METTL22_ENST00000568967.1_3'UTR|METTL22_ENST00000561758.1_Missense_Mutation_p.A265S	p.A321S	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN			9	1219	+			321					B2RD29|D3DUF2|Q6XYB4|Q9HA03	Missense_Mutation	SNP	ENST00000381920.3	37	c.961G>T	CCDS10533.2	.	.	.	.	.	.	.	.	.	.	G	3.122	-0.180293	0.06380	.	.	ENSG00000067365	ENST00000381920	T	0.06218	3.33	4.9	1.36	0.22044	.	0.808768	0.11049	N	0.605233	T	0.02418	0.0074	N	0.03177	-0.4	0.20563	N	0.999882	B;B	0.14805	0.003;0.011	B;B	0.13407	0.003;0.009	T	0.48885	-0.8995	10	0.10636	T	0.68	-27.9728	5.6808	0.17774	0.4475:0.0:0.5525:0.0	.	96;321	Q9BUU2-3;Q9BUU2	.;MET22_HUMAN	S	321	ENSP00000371345:A321S	ENSP00000371345:A321S	A	+	1	0	METTL22	8643874	0.752000	0.28338	0.045000	0.18777	0.009000	0.06853	0.698000	0.25571	0.364000	0.24374	0.655000	0.94253	GCC		0.517	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251901.1	NM_024109		52	321	1	0	1.10885e-35	1	1.36086e-35	52	321				
C1orf86	199990	broad.mit.edu	37	1	2125497	2125497	+	Silent	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:2125497C>A	ENST00000378546.4	-	2	162	c.138G>T	c.(136-138)acG>acT	p.T46T	C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000378545.3_Silent_p.T149T	NM_182533.2	NP_872339	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	46					cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCGGGCTCACCGTGCGCAGTA	0.667																																						ENST00000378545.3																			0				central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(445-447)acG>acT		chromosome 1 open reading frame 86							40.0	46.0	44.0					1																	2125497		2200	4299	6499	SO:0001819	synonymous_variant	199990							g.chr1:2125497C>A	AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000378546.4:c.138G>T	1.37:g.2125497C>A						C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000378546.4_Silent_p.T46T	p.T149T			Q6NZ36	CA086_HUMAN		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	3	446	-	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	46					A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Silent	SNP	ENST00000378546.4	37	c.447G>T	CCDS38.2	.	.	.	.	.	.	.	.	.	.	C	7.341	0.620887	0.14193	.	.	ENSG00000162585	ENST00000420515	.	.	.	3.65	-7.3	0.01446	.	.	.	.	.	T	0.16685	0.0401	.	.	.	0.23946	N	0.996385	.	.	.	.	.	.	T	0.19844	-1.0293	4	.	.	.	-4.5134	2.2715	0.04092	0.2608:0.3783:0.2473:0.1136	.	.	.	.	L	46	.	.	R	-	2	0	C1orf86	2115357	0.000000	0.05858	0.001000	0.08648	0.498000	0.33706	-1.963000	0.01513	-1.927000	0.01060	-0.467000	0.05162	CGG		0.667	C1orf86-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316541.1	NM_182533		14	98	1	0	3.27435e-08	1	3.58409e-08	14	98				
ZNF683	257101	broad.mit.edu	37	1	26688211	26688211	+	Frame_Shift_Del	DEL	C	C	-	rs142594969	byFrequency	TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:26688211delC	ENST00000436292.1	-	7	1626	c.1506delG	c.(1504-1506)gggfs	p.G502fs	ZNF683_ENST00000403843.1_Frame_Shift_Del_p.G502fs|ZNF683_ENST00000349618.3_Frame_Shift_Del_p.G482fs|ZNF683_ENST00000374204.1_Frame_Shift_Del_p.G482fs			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	502					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CTCTTGCTTTCCCCTGGGATG	0.527																																						ENST00000436292.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15						c.(1504-1506)ggfs		zinc finger protein 683							149.0	143.0	145.0					1																	26688211		2203	4300	6503	SO:0001589	frameshift_variant	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26688211delC	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.1506delG	1.37:g.26688211delC	ENSP00000388792:p.Gly502fs					ZNF683_ENST00000374204.1_Frame_Shift_Del_p.G482fs|ZNF683_ENST00000349618.3_Frame_Shift_Del_p.G482fs|ZNF683_ENST00000403843.1_Frame_Shift_Del_p.G502fs	p.G502fs			Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	7	1626	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	502					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Frame_Shift_Del	DEL	ENST00000436292.1	37	c.1506delG																																																																																					0.527	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		79	171						79	171	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs151038013|rs111266015|rs76852708|rs34641516		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(160-162)gcc>GCCgcc	p.54_54A>AA	KCNN2_ENST00000264773.3_In_Frame_Ins_p.54_54A>AA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	54	Poly-Ala.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CTGCAGCCGCTGCCGCCGCCGC	0.703																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(157-162)gcccgc>gcGCCccgc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2				1003,2377		300,403,987						-5.9	0.0		dbSNP_126	7	2590,4184		804,982,1601	no	coding	KCNN2	NM_021614.2		1104,1385,2588	A1A1,A1R,RR		38.2344,29.6746,35.3851				3593,6561				SO:0001652	inframe_insertion	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698631_113698632insGCC	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.169_171dupGCC	5.37:g.113698638_113698640dupGCC	ENSP00000427120:p.Ala58dup					KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR	p.53_54AR>APR			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	1177_1178	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	53			Poly-Ala.		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	In_Frame_Ins	INS	ENST00000512097.3	37	c.159_160insGCC	CCDS4114.1																																																																																				0.703	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		8	9						8	9	---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754|rs542581403|rs199786165	byFrequency	TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cctcctaca>cca	p.PT470del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470	Poly-Pro.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573																																						ENST00000256186.2																			2	Deletion - In frame(2)	p.T471delT(2)	upper_aerodigestive_tract(1)|skin(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1405-1413)cca>c		MICAL C-terminal like				494,2594		71,352,1121						-0.7	0.0		dbSNP_107	5	1955,4965		272,1411,1777	no	coding	MICALCL	NM_032867.2		343,1763,2898	A1A1,A1R,RR		28.2514,15.9974,24.4704				2449,7559				SO:0001651	inframe_deletion	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316384_12316389delCTCCTA	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1406_1411delCTCCTA	11.37:g.12316384_12316389delCTCCTA	ENSP00000256186:p.Pro470_Thr471del						p.PPT469del	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1697_1702	+			469			Poly-Pro.		Q7RTP7|Q96JU6	In_Frame_Del	DEL	ENST00000256186.2	37	c.1406_1411delCTCCTA	CCDS41620.1																																																																																				0.573	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		11	27						11	27	---	---	---	---
LPCAT3	10162	broad.mit.edu	37	12	7086862	7086863	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:7086862_7086863insG	ENST00000261407.4	-	10	1170_1171	c.1085_1086insC	c.(1084-1086)tctfs	p.S362fs	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_Intron	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	362					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AGAGACCCTGAGAGAGTTCTTT	0.52																																						ENST00000261407.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						c.(1084-1086)tcafs		lysophosphatidylcholine acyltransferase 3																																				SO:0001589	frameshift_variant	10162				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	g.chr12:7086862_7086863insG	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.1086dupC	12.37:g.7086863_7086863dupG	ENSP00000261407:p.Ser362fs					LPCAT3_ENST00000535021.1_Intron|U47924.19_ENST00000564245.1_RNA	p.S362fs	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN			10	1170_1171	-			362					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Frame_Shift_Ins	INS	ENST00000261407.4	37	c.1085_1086insC	CCDS8572.1																																																																																				0.520	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		27	230						27	230	---	---	---	---
GOLGA8DP	100132979	broad.mit.edu	37	15	22710180	22710180	+	RNA	DEL	C	C	-			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr15:22710180delC	ENST00000314246.8	-	0	906							Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											GCTCTAACTTCCACTCCATAC	0.562																																						ENST00000314246.8																			0																																																			100132979							g.chr15:22710180delC			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22710180delC														0	906	-									RNA	DEL	ENST00000314246.8	37																																																																																						0.562	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		5	4						5	4	---	---	---	---
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-	rs202017154		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr16:30365550_30365552delCAT	ENST00000305596.3	-	3	345_347	c.170_172delATG	c.(169-174)gatggg>ggg	p.D57del	CD2BP2_ENST00000569466.1_In_Frame_Del_p.D57del|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	57					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532																																						ENST00000305596.3																			0				breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						c.(169-174)ggg>g		CD2 (cytoplasmic tail) binding protein 2																																				SO:0001651	inframe_deletion	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30365550_30365552delCAT	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.170_172delATG	16.37:g.30365559_30365561delCAT	ENSP00000304903:p.Asp57del					CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del	p.DG57del	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN			3	345_347	-			57					B2RDX2|Q9ULP2	In_Frame_Del	DEL	ENST00000305596.3	37	c.170_172delATG	CCDS10675.1																																																																																				0.532	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		7	440						7	440	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579546	7579547	+	Frame_Shift_Ins	INS	-	-	G	rs201741778		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:7579546_7579547insG	ENST00000269305.4	-	4	329_330	c.140_141insC	c.(139-141)ccgfs	p.P47fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.P47fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P47fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P47fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P47fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.P47fs|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	47	Interaction with HRMT1L2.		P -> L (in sporadic cancers; somatic mutation).|P -> S (in dbSNP:rs1800371). {ECO:0000269|Ref.12}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.P47fs*76(5)|p.P47P(2)|p.P47fs*4(2)|p.P47L(2)|p.D48fs*55(1)|p.P13fs*18(1)|p.S46_D49delSPDD(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAATATCGTCCGGGGACAGCAT	0.594		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		23	Deletion - Frameshift(10)|Whole gene deletion(8)|Substitution - Missense(2)|Substitution - coding silent(2)|Deletion - In frame(1)	p.0?(8)|p.P47fs*76(5)|p.P47P(2)|p.P47fs*4(2)|p.P47L(2)|p.D48fs*55(1)|p.P13fs*18(1)|p.S46_D49delSPDD(1)|p.S33fs*23(1)	lung(5)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)|prostate(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(139-141)cgafs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579546_7579547insG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.141dupC	17.37:g.7579550_7579550dupG	ENSP00000269305:p.Pro47fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Frame_Shift_Ins_p.R47fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.R47fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.R47fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.R47fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.R47fs	p.R47fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	272_273	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	47		P -> L (in sporadic cancers; somatic mutation).|P -> S (in dbSNP:rs1800371).	Interaction with HRMT1L2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.140_141insC	CCDS11118.1																																																																																				0.594	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		66	450						66	450	---	---	---	---
SCAF4	57466	broad.mit.edu	37	21	33043981	33043982	+	Frame_Shift_Del	DEL	TG	TG	-	rs73903115	byFrequency	TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr21:33043981_33043982delTG	ENST00000286835.7	-	20	3556_3557	c.3174_3175delCA	c.(3172-3177)gacagafs	p.DR1058fs	SCAF4_ENST00000434667.3_Frame_Shift_Del_p.DR1043fs|SCAF4_ENST00000399804.1_Frame_Shift_Del_p.DR1036fs	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	1058						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCTCTCTCTCTGTCTCGATGCC	0.52																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(3172-3177)gagafs		SR-related CTD-associated factor 4																																				SO:0001589	frameshift_variant	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33043981_33043982delTG	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.3174_3175delCA	21.37:g.33043981_33043982delTG	ENSP00000286835:p.Asp1058fs					SCAF4_ENST00000434667.3_Frame_Shift_Del_p.DR1043fs|SCAF4_ENST00000399804.1_Frame_Shift_Del_p.DR1036fs	p.DR1058fs	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			20	3556_3557	-			1058					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Frame_Shift_Del	DEL	ENST00000286835.7	37	c.3174_3175delCA	CCDS33537.1																																																																																				0.520	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		9	205						9	205	---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000338154.6_In_Frame_Del_p.E795del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		8	111						8	111	---	---	---	---
