#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
PNMA2	10687	broad.mit.edu	37	8	26365435	26365435	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:26365435C>T	ENST00000522362.2	-	3	1731	c.837G>A	c.(835-837)gcG>gcA	p.A279A	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	279					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)		gtttctccaccgctctccgga	0.602																																						ENST00000522362.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11						c.(835-837)gcG>gcA		paraneoplastic Ma antigen 2							47.0	47.0	47.0					8																	26365435		2203	4300	6503	SO:0001819	synonymous_variant	10687				apoptosis	nucleolus	protein binding	g.chr8:26365435C>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.837G>A	8.37:g.26365435C>T							p.A279A	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	1731	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	279					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Silent	SNP	ENST00000522362.2	37	c.837G>A	CCDS34868.1																																																																																				0.602	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		5	46	0	0	0	1	0	5	46				
CDK13	8621	broad.mit.edu	37	7	40102431	40102431	+	Silent	SNP	G	G	A	rs145734382		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:40102431G>A	ENST00000181839.4	+	8	3212	c.2607G>A	c.(2605-2607)ccG>ccA	p.P869P	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Silent_p.P869P	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	869	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TTAGTCGGCCGTATACTAACA	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		16958	0.0		0.001	False		,,,				2504	0.0					ENST00000181839.4																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(2605-2607)ccG>ccA		cyclin-dependent kinase 13		G	,	1,4405		0,1,2202	289.0	307.0	301.0		2607,2607	-0.6	1.0	7	dbSNP_134	301	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CDK13	NM_003718.4,NM_031267.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	869/1513,869/1453	40102431	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40102431G>A	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2607G>A	7.37:g.40102431G>A						CDK13_ENST00000340829.5_Silent_p.P869P|CDK13_ENST00000484589.1_3'UTR	p.P869P	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN			8	3212	+			869			Protein kinase.		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Silent	SNP	ENST00000181839.4	37	c.2607G>A	CCDS5461.1																																																																																				0.388	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		24	207	0	0	0	1	0	24	207				
SLC38A11	151258	broad.mit.edu	37	2	165809221	165809221	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:165809221A>G	ENST00000409149.3	-	2	348	c.57T>C	c.(55-57)gtT>gtC	p.V19V	SLC38A11_ENST00000409058.1_Intron|SLC38A11_ENST00000303735.4_Silent_p.V19V|SLC38A11_ENST00000409662.1_Silent_p.V19V	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	19					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TTTTACCTGTAACATATGAAA	0.363																																						ENST00000303735.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						c.(55-57)gtT>gtC		solute carrier family 38, member 11							52.0	56.0	55.0					2																	165809221		2203	4299	6502	SO:0001819	synonymous_variant	151258				amino acid transport|sodium ion transport	integral to membrane		g.chr2:165809221A>G		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.57T>C	2.37:g.165809221A>G						SLC38A11_ENST00000409662.1_Silent_p.V19V|SLC38A11_ENST00000409149.3_Silent_p.V19V|SLC38A11_ENST00000409058.1_Intron	p.V19V	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN			2	387	-			19					B4DF99|Q8N887	Silent	SNP	ENST00000409149.3	37	c.57T>C	CCDS56142.1																																																																																				0.363	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		5	29	0	0	0	1	0	5	29				
ADAMTS16	170690	broad.mit.edu	37	5	5239963	5239963	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:5239963C>T	ENST00000274181.7	+	16	2586	c.2448C>T	c.(2446-2448)ttC>ttT	p.F816F		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	816	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCACTACTTTCGACTACAGAC	0.517																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2446-2448)ttC>ttT		ADAM metallopeptidase with thrombospondin type 1 motif, 16							98.0	96.0	97.0					5																	5239963		1866	4098	5964	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239963C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2448C>T	5.37:g.5239963C>T							p.F816F	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			16	2586	+			816			Spacer.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.2448C>T	CCDS43299.1																																																																																				0.517	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		15	71	0	0	0	1	0	15	71				
IL4R	3566	broad.mit.edu	37	16	27372111	27372111	+	Nonsense_Mutation	SNP	C	C	T	rs533865105	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:27372111C>T	ENST00000395762.2	+	10	1133	c.874C>T	c.(874-876)Cga>Tga	p.R292*	IL4R_ENST00000543915.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000170630.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Nonsense_Mutation_p.R277*	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	292					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GAAGCGGTCCCGAGGCCAGGA	0.557																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(874-876)Cga>Tga		interleukin 4 receptor							179.0	164.0	169.0					16																	27372111		2197	4300	6497	SO:0001587	stop_gained	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27372111C>T	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.874C>T	16.37:g.27372111C>T	ENSP00000379111:p.Arg292*					IL4R_ENST00000543915.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000170630.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Nonsense_Mutation_p.R277*	p.R292*	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			10	1133	+			292					B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Nonsense_Mutation	SNP	ENST00000395762.2	37	c.874C>T	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930157	0.92389	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	.	.	.	3.46	2.49	0.30216	.	0.631198	0.14109	N	0.340849	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.7972	8.8118	0.34971	0.0:0.7691:0.2309:0.0	.	.	.	.	X	292;292;277;292	.	ENSP00000170630:R292X	R	+	1	2	IL4R	27279612	0.001000	0.12720	0.086000	0.20670	0.376000	0.30014	0.916000	0.28651	1.011000	0.39340	0.462000	0.41574	CGA		0.557	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			28	65	0	0	0	1	0	28	65				
MPEG1	219972	broad.mit.edu	37	11	58979029	58979029	+	Missense_Mutation	SNP	C	C	T	rs571774631		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:58979029C>T	ENST00000361050.3	-	1	1395	c.1310G>A	c.(1309-1311)cGa>cAa	p.R437Q	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	437						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AGTGCACTTTCGATGACACTC	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		18889	0.0		0.001	False		,,,				2504	0.0					ENST00000361050.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1309-1311)cGa>cAa		macrophage expressed 1							96.0	89.0	91.0					11																	58979029		1961	4159	6120	SO:0001583	missense	219972					integral to membrane		g.chr11:58979029C>T	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1310G>A	11.37:g.58979029C>T	ENSP00000354335:p.Arg437Gln						p.R437Q	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	1395	-		all_epithelial(135;0.125)	437					Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.1310G>A	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	C	0.033	-1.322931	0.01320	.	.	ENSG00000197629	ENST00000361050	T	0.40756	1.02	5.72	-2.75	0.05914	.	0.879202	0.09961	N	0.733495	T	0.27419	0.0673	L	0.38531	1.155	0.09310	N	1	B	0.22541	0.071	B	0.16722	0.016	T	0.21381	-1.0247	10	0.23891	T	0.37	-1.3979	7.6873	0.28548	0.0:0.3478:0.1153:0.5368	.	437	Q2M385	MPEG1_HUMAN	Q	437	ENSP00000354335:R437Q	ENSP00000354335:R437Q	R	-	2	0	MPEG1	58735605	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.137000	0.10389	-0.903000	0.03881	-1.774000	0.00658	CGA		0.532	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		5	83	0	0	0	1	0	5	83				
ZNF37A	7587	broad.mit.edu	37	10	38407509	38407509	+	Missense_Mutation	SNP	G	G	A	rs371302765		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:38407509G>A	ENST00000361085.5	+	7	1775	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	ZNF37A_ENST00000351773.3_Missense_Mutation_p.R477H	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	477					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AAAACCTTCCGTCAGAAGTCA	0.403																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(1429-1431)cGt>cAt		zinc finger protein 37A		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	58.0	59.0	58.0		1430,1430,1430	0.4	1.0	10		58	0,8600		0,0,4300	no	missense,missense,missense	ZNF37A	NM_001007094.2,NM_001178101.1,NM_003421.2	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	477/562,477/562,477/562	38407509	1,13005	2203	4300	6503	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38407509G>A	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1430G>A	10.37:g.38407509G>A	ENSP00000354377:p.Arg477His					ZNF37A_ENST00000361085.4_Missense_Mutation_p.R477H	p.R477H	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			8	2260	+			477					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.1430G>A	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060115	0.36373	2.27E-4	0.0	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.18016	2.24;2.24	2.34	0.388	0.16264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08268	0.0206	N	0.20766	0.605	0.09310	N	1	B	0.19200	0.034	B	0.13407	0.009	T	0.38824	-0.9643	9	0.20519	T	0.43	.	2.6961	0.05135	0.3289:0.258:0.4131:0.0	.	477	P17032	ZN37A_HUMAN	H	477	ENSP00000329141:R477H;ENSP00000354377:R477H	ENSP00000329141:R477H	R	+	2	0	ZNF37A	38447515	0.000000	0.05858	0.982000	0.44146	0.859000	0.49053	-2.016000	0.01446	0.323000	0.23307	-0.218000	0.12543	CGT		0.403	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		29	57	0	0	0	1	0	29	57				
TMPRSS11B	132724	broad.mit.edu	37	4	69101871	69101871	+	Missense_Mutation	SNP	T	T	C	rs376428535		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:69101871T>C	ENST00000332644.5	-	3	399	c.238A>G	c.(238-240)Aag>Gag	p.K80E		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	80	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGATTTACCTTAGTCTCAATA	0.284																																						ENST00000332644.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						c.(238-240)Aag>Gag		transmembrane protease, serine 11B		T	GLU/LYS	0,4386		0,0,2193	40.0	40.0	40.0		238	1.6	0.9	4		40	1,8581	1.2+/-3.3	0,1,4290	no	missense	TMPRSS11B	NM_182502.3	56	0,1,6483	CC,CT,TT		0.0117,0.0,0.0077	possibly-damaging	80/417	69101871	1,12967	2193	4291	6484	SO:0001583	missense	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69101871T>C	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.238A>G	4.37:g.69101871T>C	ENSP00000330475:p.Lys80Glu						p.K80E	NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN			3	399	-			80			SEA.		A8K4D9	Missense_Mutation	SNP	ENST00000332644.5	37	c.238A>G	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	T	5.825	0.336475	0.11013	0.0	1.17E-4	ENSG00000185873	ENST00000332644	T	0.37584	1.19	4.1	1.64	0.23874	SEA (2);	0.352647	0.20492	N	0.091268	T	0.26702	0.0653	L	0.49350	1.555	0.26163	N	0.979977	P	0.45176	0.852	B	0.42462	0.388	T	0.07693	-1.0759	10	0.20519	T	0.43	.	3.7021	0.08386	0.0:0.118:0.2277:0.6543	.	80	Q86T26	TM11B_HUMAN	E	80	ENSP00000330475:K80E	ENSP00000330475:K80E	K	-	1	0	TMPRSS11B	68784466	0.097000	0.21791	0.881000	0.34555	0.960000	0.62799	0.190000	0.17057	0.710000	0.31997	0.477000	0.44152	AAG		0.284	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		11	20	0	0	0	1	0	11	20				
VAC14	55697	broad.mit.edu	37	16	70820236	70820236	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:70820236G>A	ENST00000261776.5	-	2	397	c.137C>T	c.(136-138)aCc>aTc	p.T46I		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	46					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GATTTGCACGGTATTGTTCTG	0.642																																						ENST00000261776.5																			0				breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(136-138)aCc>aTc		Vac14 homolog (S. cerevisiae)							96.0	94.0	95.0					16																	70820236		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70820236G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.137C>T	16.37:g.70820236G>A	ENSP00000261776:p.Thr46Ile						p.T46I	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			2	397	-		Ovarian(137;0.0699)	46					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.137C>T	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960918	0.53400	.	.	ENSG00000103043	ENST00000261776	T	0.66638	-0.22	5.49	5.49	0.81192	Armadillo-like helical (1);Armadillo-type fold (1);	0.164249	0.56097	D	0.000040	T	0.60483	0.2272	L	0.45581	1.43	0.80722	D	1	B	0.31054	0.306	B	0.26969	0.075	T	0.56811	-0.7917	10	0.21014	T	0.42	-12.788	19.3733	0.94498	0.0:0.0:1.0:0.0	.	46	Q08AM6	VAC14_HUMAN	I	46	ENSP00000261776:T46I	ENSP00000261776:T46I	T	-	2	0	VAC14	69377737	1.000000	0.71417	0.878000	0.34440	0.972000	0.66771	9.799000	0.99117	2.579000	0.87056	0.650000	0.86243	ACC		0.642	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		14	34	0	0	0	1	0	14	34				
APLF	200558	broad.mit.edu	37	2	68717386	68717386	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:68717386T>C	ENST00000303795.4	+	2	332	c.161T>C	c.(160-162)aTc>aCc	p.I54T		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	54	FHA-like.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CAGCTGCGAATCAAACCGGTA	0.368																																						ENST00000303795.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(160-162)aTc>aCc		aprataxin and PNKP like factor							84.0	85.0	85.0					2																	68717386		2203	4300	6503	SO:0001583	missense	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68717386T>C	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.161T>C	2.37:g.68717386T>C	ENSP00000307004:p.Ile54Thr						p.I54T	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN			2	332	+			54			FHA-like.		A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	c.161T>C	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	t	20.3	3.971371	0.74246	.	.	ENSG00000169621	ENST00000303795	T	0.26957	1.7	5.93	5.93	0.95920	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.056194	0.64402	D	0.000001	T	0.51856	0.1699	M	0.78637	2.42	0.43857	D	0.996453	D	0.76494	0.999	D	0.85130	0.997	T	0.56226	-0.8014	10	0.87932	D	0	.	12.7716	0.57423	0.0:0.0:0.0:1.0	.	54	Q8IW19	APLF_HUMAN	T	54	ENSP00000307004:I54T	ENSP00000307004:I54T	I	+	2	0	APLF	68570890	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.902000	0.56310	2.271000	0.75665	0.533000	0.62120	ATC		0.368	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		3	8	0	0	0	1	0	3	8				
GPR124	25960	broad.mit.edu	37	8	37697698	37697698	+	Silent	SNP	G	G	A	rs200971618		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:37697698G>A	ENST00000412232.2	+	17	2584	c.2571G>A	c.(2569-2571)gcG>gcA	p.A857A	GPR124_ENST00000315215.7_Silent_p.A640A	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	857					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCGTGAAGGCGCGAGTGCTCC	0.632																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1918-1920)gcG>gcA		G protein-coupled receptor 124							67.0	57.0	61.0					8																	37697698		2203	4300	6503	SO:0001819	synonymous_variant	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37697698G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2571G>A	8.37:g.37697698G>A						GPR124_ENST00000412232.2_Silent_p.A857A	p.A640A			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		14	2283	+			857					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.1920G>A	CCDS6097.2																																																																																				0.632	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			14	32	0	0	0	1	0	14	32				
MUC17	140453	broad.mit.edu	37	7	100685313	100685313	+	Missense_Mutation	SNP	C	C	T	rs138135476		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100685313C>T	ENST00000306151.4	+	3	10680	c.10616C>T	c.(10615-10617)aCa>aTa	p.T3539I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3539	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCCTTTCAACAACTCCTGTT	0.483																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10615-10617)aCa>aTa		mucin 17, cell surface associated		C	ILE/THR	0,4406		0,0,2203	240.0	250.0	246.0		10616	1.3	0.0	7	dbSNP_134	246	1,8599	1.2+/-3.3	0,1,4299	no	missense	MUC17	NM_001040105.1	89	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	3539/4494	100685313	1,13005	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685313C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10616C>T	7.37:g.100685313C>T	ENSP00000302716:p.Thr3539Ile						p.T3539I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10680	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3539			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10616C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	7.404	0.633342	0.14322	0.0	1.16E-4	ENSG00000169876	ENST00000306151	T	0.02015	4.5	1.28	1.28	0.21552	.	.	.	.	.	T	0.03608	0.0103	N	0.24115	0.695	0.09310	N	1	D	0.57899	0.981	P	0.60415	0.874	T	0.47761	-0.9092	9	0.49607	T	0.09	.	3.6512	0.08203	0.0:0.7368:0.0:0.2632	.	3539	Q685J3	MUC17_HUMAN	I	3539	ENSP00000302716:T3539I	ENSP00000302716:T3539I	T	+	2	0	MUC17	100472033	0.004000	0.15560	0.011000	0.14972	0.039000	0.13416	0.953000	0.29162	0.668000	0.31126	0.186000	0.17326	ACA		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		19	386	0	0	0	1	0	19	386				
C1orf101	257044	broad.mit.edu	37	1	244724125	244724125	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:244724125G>A	ENST00000366534.4	+	10	1239	c.1185G>A	c.(1183-1185)gaG>gaA	p.E395E	C1orf101_ENST00000366531.3_Silent_p.E244E|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Silent_p.E395E	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	395						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ACAGGGTTGAGTATACAGGAC	0.368																																						ENST00000366534.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36						c.(1183-1185)gaG>gaA		chromosome 1 open reading frame 101							111.0	119.0	116.0					1																	244724125		2203	4300	6503	SO:0001819	synonymous_variant	257044					integral to membrane		g.chr1:244724125G>A	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1185G>A	1.37:g.244724125G>A						C1orf101_ENST00000366531.3_Silent_p.E244E|C1orf101_ENST00000366533.4_Silent_p.E395E|C1orf101_ENST00000473875.1_3'UTR	p.E395E	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		10	1239	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		395					B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Silent	SNP	ENST00000366534.4	37	c.1185G>A	CCDS44340.1																																																																																				0.368	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		25	51	0	0	0	1	0	25	51				
ABCC8	6833	broad.mit.edu	37	11	17428224	17428224	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:17428224C>T	ENST00000389817.3	-	26	3342	c.3274G>A	c.(3274-3276)Gtg>Atg	p.V1092M	ABCC8_ENST00000302539.4_Missense_Mutation_p.V1093M			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1092	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CTCTTGGCCACCTTCAGCCCT	0.607																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3277-3279)Gtg>Atg		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						135.0	107.0	116.0					11																	17428224		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17428224C>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3274G>A	11.37:g.17428224C>T	ENSP00000374467:p.Val1092Met					ABCC8_ENST00000389817.3_Missense_Mutation_p.V1092M	p.V1093M	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	26	3402	-			1092			ABC transmembrane type-1 2.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.3277G>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.649919	0.87958	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.90385	-2.66;-2.66	5.84	5.84	0.93424	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93798	0.8017	M	0.79693	2.465	0.58432	D	0.999991	B	0.33171	0.4	P	0.45660	0.489	D	0.93511	0.6853	10	0.87932	D	0	.	17.0674	0.86563	0.0:0.8734:0.1266:0.0	.	1092	Q09428	ABCC8_HUMAN	M	1092;1093	ENSP00000374467:V1092M;ENSP00000303960:V1093M	ENSP00000303960:V1093M	V	-	1	0	ABCC8	17384800	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.910000	0.63321	2.756000	0.94617	0.655000	0.94253	GTG		0.607	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		13	38	0	0	0	1	0	13	38				
DCAF15	90379	broad.mit.edu	37	19	14070466	14070466	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:14070466G>A	ENST00000254337.6	+	8	1313	c.1292G>A	c.(1291-1293)cGg>cAg	p.R431Q		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	431					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CGGCCCATGCGGGAGCGGACT	0.692											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000254337.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(1291-1293)cGg>cAg		DDB1 and CUL4 associated factor 15							49.0	52.0	51.0					19																	14070466		2202	4300	6502	SO:0001583	missense	90379							g.chr19:14070466G>A	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1292G>A	19.37:g.14070466G>A	ENSP00000254337:p.Arg431Gln		OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	692		p.R431Q	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN			8	1313	+			431					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.1292G>A	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	g	17.25	3.341782	0.61073	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.81	4.81	0.61882	.	0.190409	0.33631	N	0.004713	T	0.20129	0.0484	L	0.27053	0.805	0.29306	N	0.868355	P	0.47106	0.89	B	0.34418	0.182	T	0.24835	-1.0149	9	0.66056	D	0.02	-16.8447	7.4914	0.27464	0.1873:0.0:0.8127:0.0	.	431	Q66K64	DCA15_HUMAN	Q	431	.	ENSP00000254337:R431Q	R	+	2	0	DCAF15	13931466	0.997000	0.39634	1.000000	0.80357	0.982000	0.71751	2.265000	0.43311	2.218000	0.71995	0.561000	0.74099	CGG		0.692	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		5	52	0	0	0	1	0	5	52				
LDB1	8861	broad.mit.edu	37	10	103867967	103867967	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:103867967G>A	ENST00000425280.1	-	11	1461	c.1119C>T	c.(1117-1119)gaC>gaT	p.D373D	LDB1_ENST00000490751.1_5'Flank|LDB1_ENST00000361198.5_Silent_p.D337D	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	373	LIM-binding domain (LID). {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)	p.D373D(1)|p.D337D(1)		breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TGTCCTCGTCGTCAATGCCGT	0.622																																						ENST00000361198.5																			2	Substitution - coding silent(2)	p.D373D(1)|p.D337D(1)	endometrium(2)	breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21						c.(1009-1011)gaC>gaT		LIM domain binding 1							193.0	151.0	165.0					10																	103867967		2203	4300	6503	SO:0001819	synonymous_variant	8861				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	g.chr10:103867967G>A	AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.1119C>T	10.37:g.103867967G>A						LDB1_ENST00000425280.1_Silent_p.D373D	p.D337D	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)	11	1634	-		Colorectal(252;0.122)	373			LIM-binding domain (LID) (By similarity).		B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Silent	SNP	ENST00000425280.1	37	c.1011C>T	CCDS44472.1																																																																																				0.622	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113407		5	67	0	0	0	1	0	5	67				
COPZ2	51226	broad.mit.edu	37	17	46111238	46111238	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:46111238G>A	ENST00000006101.4	-	4	252	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	87					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)				lung(3)|upper_aerodigestive_tract(1)	4						CTCTCAGTCCGGCTGGTCTTG	0.483																																						ENST00000006101.4																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(253-255)Cgg>Tgg		coatomer protein complex, subunit zeta 2							82.0	85.0	84.0					17																	46111238		2032	4198	6230	SO:0001583	missense	51226				intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat		g.chr17:46111238G>A	AB037938	CCDS74092.1	17q21.2	2008-07-18				ENSG00000005243			19356	protein-coding gene	gene with protein product	"""nonclathrin coat protein zeta-COP"", ""zeta2-COP"", ""zeta-2 coat protein"""	615526				11056392	Standard	NM_016429		Approved	MGC23008	uc002imy.3	Q9P299		ENST00000006101.4:c.253C>T	17.37:g.46111238G>A	ENSP00000006101:p.Arg85Trp					COPZ2_ENST00000584666.1_5'UTR	p.R85W	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN			4	252	-			87						Missense_Mutation	SNP	ENST00000006101.4	37	c.253C>T		.	.	.	.	.	.	.	.	.	.	G	10.45	1.352878	0.24512	.	.	ENSG00000005243	ENST00000006101	.	.	.	5.59	2.31	0.28768	Longin-like (1);AP complex, mu/sigma subunit (1);	0.070241	0.53938	D	0.000045	T	0.75391	0.3843	M	0.81239	2.535	0.40033	D	0.975554	D	0.76494	0.999	D	0.71656	0.974	T	0.78028	-0.2364	9	0.87932	D	0	-13.7446	8.8254	0.35052	0.074:0.0:0.5668:0.3593	.	87	Q9P299	COPZ2_HUMAN	W	85	.	ENSP00000006101:R85W	R	-	1	2	COPZ2	43466237	0.997000	0.39634	0.999000	0.59377	0.549000	0.35272	1.575000	0.36493	1.339000	0.45563	0.643000	0.83706	CGG		0.483	COPZ2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016429		3	13	0	0	0	1	0	3	13				
MEGF6	1953	broad.mit.edu	37	1	3427388	3427388	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:3427388T>C	ENST00000356575.4	-	10	1419	c.1193A>G	c.(1192-1194)tAc>tGc	p.Y398C	MEGF6_ENST00000294599.4_Missense_Mutation_p.Y293C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	398	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GTAGCCGGCGTAGCAGCCGCA	0.682																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1192-1194)tAc>tGc		multiple EGF-like-domains 6							34.0	44.0	41.0					1																	3427388		2138	4234	6372	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3427388T>C	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.1193A>G	1.37:g.3427388T>C	ENSP00000348982:p.Tyr398Cys					MEGF6_ENST00000294599.4_Missense_Mutation_p.Y293C	p.Y398C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	10	1419	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	398			EGF-like 7.		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.1193A>G	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	T	9.904	1.207579	0.22205	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.87412	-2.25;-2.25	4.51	2.11	0.27256	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.540004	0.19159	N	0.121247	D	0.86564	0.5963	M	0.64404	1.975	0.09310	N	1	D;P	0.62365	0.991;0.94	P;P	0.54460	0.706;0.753	T	0.76189	-0.3050	10	0.40728	T	0.16	-26.351	3.5283	0.07768	0.1744:0.1798:0.0:0.6458	.	398;293	O75095;O75095-2	MEGF6_HUMAN;.	C	293;398	ENSP00000294599:Y293C;ENSP00000348982:Y398C	ENSP00000294599:Y293C	Y	-	2	0	MEGF6	3417248	0.000000	0.05858	0.977000	0.42913	0.969000	0.65631	0.190000	0.17057	0.534000	0.28695	0.379000	0.24179	TAC		0.682	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		4	28	0	0	0	1	0	4	28				
MPHOSPH8	54737	broad.mit.edu	37	13	20235872	20235872	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:20235872C>T	ENST00000361479.5	+	8	1894	c.1826C>T	c.(1825-1827)gCc>gTc	p.A609V	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.A609V	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	609					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ATGCTTGCCGCCGCCGGAGGG	0.502																																						ENST00000361479.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1825-1827)gCc>gTc		M-phase phosphoprotein 8							128.0	135.0	133.0					13																	20235872		2203	4300	6503	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20235872C>T	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1826C>T	13.37:g.20235872C>T	ENSP00000355388:p.Ala609Val					MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.A609V	p.A609V	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	8	1894	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	609					B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.1826C>T	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492489	0.84962	.	.	ENSG00000196199	ENST00000414242;ENST00000361479	T;T	0.70516	-0.49;-0.49	6.08	6.08	0.98989	Ankyrin repeat-containing domain (4);	0.105071	0.64402	D	0.000003	D	0.82774	0.5110	L	0.54965	1.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82418	-0.0467	10	0.72032	D	0.01	.	20.2672	0.98462	0.0:1.0:0.0:0.0	.	609;609	Q99549;Q99549-2	MPP8_HUMAN;.	V	609	ENSP00000414663:A609V;ENSP00000355388:A609V	ENSP00000355388:A609V	A	+	2	0	MPHOSPH8	19133872	1.000000	0.71417	0.779000	0.31741	0.166000	0.22503	7.221000	0.78016	2.894000	0.99253	0.591000	0.81541	GCC		0.502	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		18	120	0	0	0	1	0	18	120				
RALGPS1	9649	broad.mit.edu	37	9	129931001	129931001	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:129931001C>T	ENST00000259351.5	+	10	1059	c.792C>T	c.(790-792)tcC>tcT	p.S264S	RALGPS1_ENST00000424082.2_Silent_p.S264S|RALGPS1_ENST00000394022.3_Silent_p.S264S|RALGPS1_ENST00000373434.1_Silent_p.S264S|RALGPS1_ENST00000373436.1_Silent_p.S264S	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	264	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.S264S(2)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACCTGAAGTCCGTACGCTACA	0.527																																						ENST00000259351.5																			2	Substitution - coding silent(2)	p.S264S(2)	lung(2)	kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(790-792)tcC>tcT		Ral GEF with PH domain and SH3 binding motif 1							192.0	166.0	175.0					9																	129931001		2203	4300	6503	SO:0001819	synonymous_variant	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129931001C>T	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.792C>T	9.37:g.129931001C>T						RALGPS1_ENST00000373434.1_Silent_p.S264S|RALGPS1_ENST00000394022.3_Silent_p.S264S|RALGPS1_ENST00000424082.2_Silent_p.S264S|RALGPS1_ENST00000373436.1_Silent_p.S264S	p.S264S	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN			10	1059	+			264			Ras-GEF.		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Silent	SNP	ENST00000259351.5	37	c.792C>T	CCDS35143.1																																																																																				0.527	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		9	78	0	0	0	1	0	9	78				
VPS13D	55187	broad.mit.edu	37	1	12460321	12460321	+	Silent	SNP	C	C	T	rs376413956		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:12460321C>T	ENST00000358136.3	+	61	11848	c.11718C>T	c.(11716-11718)acC>acT	p.T3906T	VPS13D_ENST00000356315.4_Silent_p.T3881T|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCATCGAGACCGGCCCAGCTG	0.557																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(11716-11718)acC>acT		vacuolar protein sorting 13 homolog D (S. cerevisiae)		C	,	0,4406		0,0,2203	119.0	97.0	105.0		11718,11643	-12.1	0.0	1		105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VPS13D	NM_015378.2,NM_018156.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	3906/4389,3881/4364	12460321	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12460321C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.11718C>T	1.37:g.12460321C>T						VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.T3881T	p.T3906T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	61	11848	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3905						Silent	SNP	ENST00000358136.3	37	c.11718C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	0.729	-0.780481	0.02929	0.0	1.16E-4	ENSG00000048707	ENST00000011700	.	.	.	6.03	-12.1	0.00011	.	.	.	.	.	T	0.39572	0.1083	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59757	-0.7394	4	.	.	.	.	4.3964	0.11365	0.0793:0.4333:0.1798:0.3076	.	.	.	.	L	2728	.	.	P	+	2	0	VPS13D	12382908	0.000000	0.05858	0.013000	0.15412	0.222000	0.24845	-3.081000	0.00613	-4.916000	0.00027	-1.202000	0.01658	CCG		0.557	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		10	31	0	0	0	1	0	10	31				
LAMA4	3910	broad.mit.edu	37	6	112463376	112463376	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:112463376C>A	ENST00000230538.7	-	20	3009	c.2612G>T	c.(2611-2613)cGg>cTg	p.R871L	LAMA4_ENST00000522006.1_Missense_Mutation_p.R864L|LAMA4_ENST00000424408.2_Missense_Mutation_p.R864L|LAMA4_ENST00000389463.4_Missense_Mutation_p.R864L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	871	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGTTCCGGCCGCTTCACAGG	0.473																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(2611-2613)cGg>cTg		laminin, alpha 4							120.0	118.0	119.0					6																	112463376		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112463376C>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2612G>T	6.37:g.112463376C>A	ENSP00000230538:p.Arg871Leu					LAMA4_ENST00000389463.4_Missense_Mutation_p.R864L|LAMA4_ENST00000424408.2_Missense_Mutation_p.R864L|LAMA4_ENST00000522006.1_Missense_Mutation_p.R864L	p.R871L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	20	3009	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	871			Laminin G-like 1.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.2612G>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	8.883	0.952206	0.18431	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.15017	2.47;2.46;2.46;2.46	6.16	-0.671	0.11381	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	1.023750	0.07750	N	0.948347	T	0.02380	0.0073	N	0.08118	0	0.09310	N	0.999995	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.46857	-0.9161	10	0.31617	T	0.26	.	7.4918	0.27466	0.0:0.1218:0.348:0.5302	.	871;864	Q16363;Q16363-2	LAMA4_HUMAN;.	L	871;864;864;864	ENSP00000230538:R871L;ENSP00000429488:R864L;ENSP00000374114:R864L;ENSP00000416470:R864L	ENSP00000230538:R871L	R	-	2	0	LAMA4	112570069	0.051000	0.20477	0.036000	0.18154	0.001000	0.01503	-0.337000	0.07852	0.171000	0.19730	-1.258000	0.01471	CGG		0.473	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		17	38	1	0	1.5739e-10	1	1.67165e-10	17	38				
ALCAM	214	broad.mit.edu	37	3	105260577	105260577	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:105260577G>A	ENST00000306107.5	+	8	1459	c.959G>A	c.(958-960)aGc>aAc	p.S320N	ALCAM_ENST00000486979.2_Missense_Mutation_p.S269N|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000472644.2_Missense_Mutation_p.S320N	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	320	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GACAAAAAAAGCATGATTGCT	0.428																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(958-960)aGc>aAc		activated leukocyte cell adhesion molecule							155.0	127.0	136.0					3																	105260577		2203	4300	6503	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105260577G>A	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.959G>A	3.37:g.105260577G>A	ENSP00000305988:p.Ser320Asn					ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000472644.2_Missense_Mutation_p.S320N|ALCAM_ENST00000486979.2_Missense_Mutation_p.S269N|ALCAM_ENST00000481337.1_3'UTR	p.S320N	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN			8	1459	+			320			Ig-like C2-type 1.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.959G>A	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.748371	0.30955	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979	T;T;T	0.11385	2.78;2.78;2.78	6.17	2.4	0.29515	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.463544	0.30547	N	0.009393	T	0.05593	0.0147	N	0.16656	0.425	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.41484	-0.9506	10	0.24483	T	0.36	-5.5596	5.8367	0.18611	0.2728:0.1281:0.5991:0.0	.	320;320	B4DTU0;Q13740	.;CD166_HUMAN	N	320;320;269	ENSP00000305988:S320N;ENSP00000419236:S320N;ENSP00000418213:S269N	ENSP00000305988:S320N	S	+	2	0	ALCAM	106743267	0.998000	0.40836	0.953000	0.39169	0.999000	0.98932	1.055000	0.30467	0.169000	0.19679	0.655000	0.94253	AGC		0.428	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		9	74	0	0	0	1	0	9	74				
BTN2A2	10385	broad.mit.edu	37	6	26385530	26385530	+	Missense_Mutation	SNP	C	C	T	rs555925050	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:26385530C>T	ENST00000356709.4	+	3	493	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000432533.2_Missense_Mutation_p.R128C|BTN2A2_ENST00000469230.1_Missense_Mutation_p.R128C|BTN2A2_ENST00000416795.2_Missense_Mutation_p.R128C|BTN2A2_ENST00000482536.1_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	128	Ig-like V-type.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGGGATCTACCGCTGTTACTT	0.517													c|||	2	0.000399361	0.0	0.0	5008	,	,		20895	0.0		0.0	False		,,,				2504	0.002					ENST00000356709.4																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						c.(382-384)Cgc>Tgc		butyrophilin, subfamily 2, member A2							109.0	90.0	97.0					6																	26385530		2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26385530C>T	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.382C>T	6.37:g.26385530C>T	ENSP00000349143:p.Arg128Cys					BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.R128C|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000432533.2_Missense_Mutation_p.R128C|BTN2A2_ENST00000416795.2_Missense_Mutation_p.R128C	p.R128C	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN			3	493	+			128			Ig-like V-type.		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.382C>T	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	t	9.588	1.125504	0.20959	.	.	ENSG00000124508	ENST00000469230;ENST00000356709;ENST00000493275;ENST00000432533;ENST00000416795	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	3.75	0.899	0.19271	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.363710	0.04587	N	0.395975	T	0.26774	0.0655	L	0.32530	0.975	0.19300	N	0.999975	B;B;B	0.24920	0.034;0.035;0.114	B;B;B	0.27608	0.006;0.013;0.081	T	0.16571	-1.0398	10	0.37606	T	0.19	.	3.2301	0.06745	0.184:0.4865:0.0:0.3296	.	128;128;128	B4DQ01;Q8WVV5-2;Q8WVV5	.;.;BT2A2_HUMAN	C	128	ENSP00000417472:R128C;ENSP00000349143:R128C;ENSP00000418857:R128C;ENSP00000394241:R128C;ENSP00000399308:R128C	ENSP00000349143:R128C	R	+	1	0	BTN2A2	26493509	0.000000	0.05858	0.823000	0.32752	0.782000	0.44232	-0.575000	0.05861	-0.156000	0.11079	-0.384000	0.06662	CGC		0.517	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			11	17	0	0	0	1	0	11	17				
RYR1	6261	broad.mit.edu	37	19	38937375	38937375	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:38937375G>A	ENST00000359596.3	+	9	767	c.767G>A	c.(766-768)cGc>cAc	p.R256H	RYR1_ENST00000360985.3_Missense_Mutation_p.R256H|RYR1_ENST00000355481.4_Missense_Mutation_p.R256H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	256	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACTCATGCCCGCTCCCTCTGG	0.602																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(766-768)cGc>cAc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						46.0	46.0	46.0					19																	38937375		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38937375G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.767G>A	19.37:g.38937375G>A	ENSP00000352608:p.Arg256His					RYR1_ENST00000359596.3_Missense_Mutation_p.R256H|RYR1_ENST00000360985.3_Missense_Mutation_p.R256H	p.R256H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		9	898	+	all_cancers(60;7.91e-06)		256			MIR 3.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.767G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511990	0.64522	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.90385	-2.66;-2.66;-2.66	4.31	4.31	0.51392	MIR motif (2);MIR (2);	0.000000	0.64402	U	0.000009	D	0.94804	0.8322	M	0.77103	2.36	0.47407	D	0.999416	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.95349	0.8445	10	0.87932	D	0	.	14.3051	0.66380	0.0:0.0:1.0:0.0	.	256;256	P21817-2;P21817	.;RYR1_HUMAN	H	256	ENSP00000352608:R256H;ENSP00000347667:R256H;ENSP00000354254:R256H	ENSP00000347667:R256H	R	+	2	0	RYR1	43629215	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	9.215000	0.95146	2.242000	0.73789	0.563000	0.77884	CGC		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			15	36	0	0	0	1	0	15	36				
TARS2	80222	broad.mit.edu	37	1	150469374	150469374	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:150469374C>T	ENST00000369064.3	+	9	1044	c.1010C>T	c.(1009-1011)gCg>gTg	p.A337V	TARS2_ENST00000463555.1_Intron|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Intron|TARS2_ENST00000369054.2_Intron	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	337					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.A337V(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GCACTAGTGGCGTTTATCAGG	0.527																																						ENST00000369064.3																			1	Substitution - Missense(1)	p.A337V(1)	large_intestine(1)	cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(1009-1011)gCg>gTg		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)						64.0	55.0	58.0					1																	150469374		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150469374C>T	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1010C>T	1.37:g.150469374C>T	ENSP00000358060:p.Ala337Val					TARS2_ENST00000463555.1_Intron|TARS2_ENST00000606933.1_Intron|TARS2_ENST00000369054.2_Intron|TARS2_ENST00000438568.2_3'UTR	p.A337V	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		9	1044	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		337					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.1010C>T	CCDS952.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529505	0.64860	.	.	ENSG00000143374	ENST00000369064	T	0.68903	-0.36	5.39	4.46	0.54185	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.359629	0.29293	N	0.012566	T	0.44456	0.1294	L	0.46819	1.47	0.80722	D	1	B	0.24963	0.115	B	0.18263	0.021	T	0.53215	-0.8470	10	0.62326	D	0.03	-5.8383	11.9664	0.53038	0.4674:0.5326:0.0:0.0	.	337	Q9BW92	SYTM_HUMAN	V	337	ENSP00000358060:A337V	ENSP00000358060:A337V	A	+	2	0	TARS2	148735998	1.000000	0.71417	0.979000	0.43373	0.989000	0.77384	5.003000	0.63959	1.463000	0.47967	0.655000	0.94253	GCG		0.527	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		5	32	0	0	0	1	0	5	32				
CWF19L1	55280	broad.mit.edu	37	10	101995439	101995439	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:101995439G>T	ENST00000354105.4	-	13	1543	c.1457C>A	c.(1456-1458)cCt>cAt	p.P486H	RP11-316M21.6_ENST00000444359.1_RNA|CWF19L1_ENST00000370379.1_Missense_Mutation_p.P201H|CWF19L1_ENST00000478047.1_5'UTR|SNORA12_ENST00000391162.1_RNA	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	486							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		AAACTGCAAAGGAAAATTCTT	0.363																																						ENST00000354105.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17						c.(1456-1458)cCt>cAt		CWF19-like 1, cell cycle control (S. pombe)							70.0	68.0	69.0					10																	101995439		2203	4300	6503	SO:0001583	missense	55280						catalytic activity	g.chr10:101995439G>T	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1457C>A	10.37:g.101995439G>T	ENSP00000326411:p.Pro486His					CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Missense_Mutation_p.P201H	p.P486H	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)	13	1543	-		Colorectal(252;0.117)	486					B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	ENST00000354105.4	37	c.1457C>A	CCDS7489.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212940	0.79352	.	.	ENSG00000095485	ENST00000354105;ENST00000370379	T;T	0.34859	1.34;1.34	5.29	5.29	0.74685	Cwf19-like protein, C-terminal domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.63034	0.2477	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.997;0.999	T	0.66176	-0.5989	10	0.54805	T	0.06	-10.8848	16.4413	0.83901	0.0:0.0:1.0:0.0	.	190;349;486	Q69YN2-2;Q69YN2-3;Q69YN2	.;.;C19L1_HUMAN	H	486;201	ENSP00000326411:P486H;ENSP00000359405:P201H	ENSP00000326411:P486H	P	-	2	0	CWF19L1	101985429	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.059000	0.93902	2.490000	0.84030	0.563000	0.77884	CCT		0.363	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		5	23	1	0	1	1	1	5	23				
TICAM1	148022	broad.mit.edu	37	19	4817623	4817623	+	Missense_Mutation	SNP	G	G	A	rs370345154		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:4817623G>A	ENST00000248244.5	-	2	996	c.767C>T	c.(766-768)cCg>cTg	p.P256L		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	256	Pro-rich.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCCCGATGGCGGCCAGCTCAT	0.677																																						ENST00000248244.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(766-768)cCg>cTg		toll-like receptor adaptor molecule 1		G	LEU/PRO	0,4406		0,0,2203	21.0	25.0	24.0		767	4.4	0.9	19		24	1,8595		0,1,4297	no	missense	TICAM1	NM_182919.2	98	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	256/713	4817623	1,13001	2203	4298	6501	SO:0001583	missense	148022				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|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	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	g.chr19:4817623G>A	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.767C>T	19.37:g.4817623G>A	ENSP00000248244:p.Pro256Leu						p.P256L	NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	2	996	-			256			Pro-rich.		B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	c.767C>T	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648739	0.67358	0.0	1.16E-4	ENSG00000127666	ENST00000248244	T	0.54675	0.56	4.37	4.37	0.52481	.	0.235542	0.21899	U	0.067463	T	0.65133	0.2662	M	0.65975	2.015	0.36277	D	0.855535	D	0.76494	0.999	P	0.61800	0.894	T	0.72239	-0.4351	10	0.48119	T	0.1	-23.1906	11.3742	0.49717	0.0:0.0:0.8196:0.1804	.	256	Q8IUC6	TCAM1_HUMAN	L	256	ENSP00000248244:P256L	ENSP00000248244:P256L	P	-	2	0	TICAM1	4768623	0.834000	0.29399	0.882000	0.34594	0.743000	0.42351	2.193000	0.42658	2.134000	0.65973	0.313000	0.20887	CCG		0.677	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		3	28	0	0	0	1	0	3	28				
ABCC11	85320	broad.mit.edu	37	16	48212570	48212570	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:48212570G>A	ENST00000394747.1	-	23	3635	c.3286C>T	c.(3286-3288)Cgg>Tgg	p.R1096W	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1096W|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1096W|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1096W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1096	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|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)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AAGCCAATCCGGGCAGTGGCC	0.582																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(3286-3288)Cgg>Tgg		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							93.0	84.0	87.0					16																	48212570		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48212570G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3286C>T	16.37:g.48212570G>A	ENSP00000378230:p.Arg1096Trp					ABCC11_ENST00000356608.2_Missense_Mutation_p.R1096W|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1096W|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1096W	p.R1096W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			23	3635	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1096			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.3286C>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563248	0.45694	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48	3.75	0.104	0.14531	ABC transporter, transmembrane domain, type 1 (1);	0.226724	0.33217	N	0.005149	D	0.96106	0.8731	M	0.86651	2.83	0.30857	N	0.733952	P;D	0.89917	0.877;1.0	B;D	0.87578	0.276;0.998	D	0.91419	0.5157	10	0.49607	T	0.09	-11.3576	3.8299	0.08870	0.128:0.0:0.4155:0.4565	.	1096;1096	Q96J66-2;Q96J66	.;ABCCB_HUMAN	W	1096	ENSP00000311326:R1096W;ENSP00000349017:R1096W;ENSP00000378231:R1096W;ENSP00000378230:R1096W	ENSP00000311326:R1096W	R	-	1	2	ABCC11	46770071	0.882000	0.30256	0.003000	0.11579	0.002000	0.02628	0.902000	0.28459	0.247000	0.21414	0.462000	0.41574	CGG		0.582	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		5	55	0	0	0	1	0	5	55				
CACNA2D3	55799	broad.mit.edu	37	3	54930848	54930848	+	Silent	SNP	C	C	T	rs373671539		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:54930848C>T	ENST00000474759.1	+	26	2367	c.2319C>T	c.(2317-2319)gcC>gcT	p.A773A	CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Silent_p.A679A|CACNA2D3_ENST00000415676.2_Silent_p.A773A|CACNA2D3_ENST00000288197.5_Silent_p.A773A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	773						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	ACCGAAGAGCCGCTGAGCAGA	0.532																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(2317-2319)gcC>gcT		calcium channel, voltage-dependent, alpha 2/delta subunit 3		C		0,3942		0,0,1971	119.0	120.0	120.0		2319	-11.5	0.0	3		120	1,8313		0,1,4156	no	coding-synonymous	CACNA2D3	NM_018398.2		0,1,6127	TT,TC,CC		0.012,0.0,0.0082		773/1092	54930848	1,12255	1971	4157	6128	SO:0001819	synonymous_variant	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54930848C>T	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2319C>T	3.37:g.54930848C>T						CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Silent_p.A773A|CACNA2D3_ENST00000490478.1_Silent_p.A679A|CACNA2D3_ENST00000288197.5_Silent_p.A773A	p.A773A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	26	2367	+			773					B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	c.2319C>T	CCDS54598.1																																																																																				0.532	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			22	37	0	0	0	1	0	22	37				
FOXA1	3169	broad.mit.edu	37	14	38061250	38061250	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:38061250G>A	ENST00000250448.2	-	2	800	c.739C>T	c.(739-741)Cac>Tac	p.H247Y	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.H214Y	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	247					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GAGTCCGGGTGCAGCGTCCAG	0.667																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(739-741)Cac>Tac		forkhead box A1							33.0	31.0	32.0					14																	38061250		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061250G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.739C>T	14.37:g.38061250G>A	ENSP00000250448:p.His247Tyr					FOXA1_ENST00000540786.1_Missense_Mutation_p.H214Y|FOXA1_ENST00000545425.2_5'UTR	p.H247Y	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	800	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		247					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.739C>T	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459017	0.84317	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95588	-3.75;-3.75	4.0	4.0	0.46444	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97848	0.9293	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98816	1.0745	10	0.87932	D	0	.	15.0053	0.71507	0.0:0.0:1.0:0.0	.	247	P55317	FOXA1_HUMAN	Y	247;214	ENSP00000250448:H247Y;ENSP00000440178:H214Y	ENSP00000250448:H247Y	H	-	1	0	FOXA1	37131001	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.683000	0.84093	2.057000	0.61298	0.400000	0.26472	CAC		0.667	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			12	19	0	0	0	1	0	12	19				
MTG2	26164	broad.mit.edu	37	20	60773005	60773005	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:60773005C>T	ENST00000370823.3	+	4	468	c.450C>T	c.(448-450)ggC>ggT	p.G150G	MTG2_ENST00000436421.2_Intron|MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000536470.1_5'UTR	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	150	Localized in the mitochondria.|Not localized in the mitochondria.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										GGCGCAGTGGCGCCGTCCTCT	0.622																																						ENST00000370823.3																			0											c.(448-450)ggC>ggT		mitochondrial ribosome-associated GTPase 2							91.0	83.0	86.0					20																	60773005		2203	4300	6503	SO:0001819	synonymous_variant	26164							g.chr20:60773005C>T	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.450C>T	20.37:g.60773005C>T						MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Intron	p.G150G	NM_015666.3	NP_056481.1					4	468	+								A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Silent	SNP	ENST00000370823.3	37	c.450C>T	CCDS13492.1																																																																																				0.622	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		12	35	0	0	0	1	0	12	35				
STK31	56164	broad.mit.edu	37	7	23826531	23826531	+	Silent	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:23826531T>A	ENST00000355870.3	+	20	2594	c.2475T>A	c.(2473-2475)ccT>ccA	p.P825P	STK31_ENST00000428484.1_Silent_p.P802P|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Silent_p.P802P|STK31_ENST00000433467.2_Silent_p.P825P	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	825	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCAACATGCCTTTAAATTCAG	0.363																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2404-2406)ccT>ccA		serine/threonine kinase 31							164.0	151.0	155.0					7																	23826531		2203	4300	6503	SO:0001819	synonymous_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23826531T>A	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2475T>A	7.37:g.23826531T>A						STK31_ENST00000355870.3_Silent_p.P825P|STK31_ENST00000428484.1_Silent_p.P802P|STK31_ENST00000433467.2_Silent_p.P825P|STK31_ENST00000405627.3_3'UTR	p.P802P	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			20	2870	+			825			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	c.2406T>A	CCDS5386.1																																																																																				0.363	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		7	89	0	0	0	1	0	7	89				
ZNF367	195828	broad.mit.edu	37	9	99150564	99150564	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:99150564C>T	ENST00000375256.4	-	5	1304	c.1008G>A	c.(1006-1008)gcG>gcA	p.A336A		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	336					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				GCTCTATGAGCGCGAGGGCTC	0.577																																						ENST00000375256.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12						c.(1006-1008)gcG>gcA		zinc finger protein 367							40.0	43.0	42.0					9																	99150564		2203	4300	6503	SO:0001819	synonymous_variant	195828				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:99150564C>T	AK091289	CCDS6718.1	9q22	2008-05-02			ENSG00000165244	ENSG00000165244		"""Zinc fingers, C2H2-type"""	18320	protein-coding gene	gene with protein product		610160					Standard	NM_153695		Approved	FLJ33970	uc004awf.3	Q7RTV3	OTTHUMG00000020295	ENST00000375256.4:c.1008G>A	9.37:g.99150564C>T							p.A336A	NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN			5	1304	-		Acute lymphoblastic leukemia(62;0.0167)	336					Q6Q7C8	Silent	SNP	ENST00000375256.4	37	c.1008G>A	CCDS6718.1																																																																																				0.577	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053266.1			4	36	0	0	0	1	0	4	36				
ACVR2A	92	broad.mit.edu	37	2	148602758	148602758	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:148602758C>G	ENST00000241416.7	+	1	673	c.37C>G	c.(37-39)Ctt>Gtt	p.L13V	ACVR2A_ENST00000404590.1_Missense_Mutation_p.L13V|ACVR2A_ENST00000535787.1_Intron	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	13				L -> V (in Ref. 4; BAA06548). {ECO:0000305}.	activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGCCGTCTTTCTTATCTCCTG	0.647																																						ENST00000241416.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(37-39)Ctt>Gtt		activin A receptor, type IIA							64.0	65.0	64.0					2																	148602758		2203	4300	6503	SO:0001583	missense	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148602758C>G		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.37C>G	2.37:g.148602758C>G	ENSP00000241416:p.Leu13Val					ACVR2A_ENST00000535787.1_Intron|ACVR2A_ENST00000404590.1_Missense_Mutation_p.L13V	p.L13V	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	1	673	+			13	L -> V (in Ref. 4; BAA06548).				B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	c.37C>G	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998310	0.35226	.	.	ENSG00000121989	ENST00000241416;ENST00000404590	D;D	0.83755	-1.76;-1.76	4.42	4.42	0.53409	.	1.121610	0.06903	N	0.806328	D	0.82467	0.5043	L	0.53249	1.67	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.66524	-0.5902	10	0.36615	T	0.2	.	16.8377	0.85961	0.0:1.0:0.0:0.0	.	13	P27037	AVR2A_HUMAN	V	13	ENSP00000241416:L13V;ENSP00000384338:L13V	ENSP00000241416:L13V	L	+	1	0	ACVR2A	148319228	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.046000	0.57376	2.271000	0.75665	0.585000	0.79938	CTT		0.647	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		14	23	0	0	0	1	0	14	23				
TRIM62	55223	broad.mit.edu	37	1	33612961	33612961	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:33612961C>A	ENST00000291416.5	-	5	1478	c.1245G>T	c.(1243-1245)aaG>aaT	p.K415N	TRIM62_ENST00000543586.1_Missense_Mutation_p.K294N	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	415	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				AGACACCCACCTTGTCAAGCT	0.577																																						ENST00000291416.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1243-1245)aaG>aaT		tripartite motif containing 62							112.0	104.0	107.0					1																	33612961		2203	4300	6503	SO:0001583	missense	55223					intracellular	zinc ion binding	g.chr1:33612961C>A	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.1245G>T	1.37:g.33612961C>A	ENSP00000291416:p.Lys415Asn					TRIM62_ENST00000543586.1_Missense_Mutation_p.K294N	p.K415N	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN			5	1478	-		Myeloproliferative disorder(586;0.0393)	415			B30.2/SPRY.		B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Missense_Mutation	SNP	ENST00000291416.5	37	c.1245G>T	CCDS376.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521895	0.64747	.	.	ENSG00000116525	ENST00000291416;ENST00000543586	T;T	0.69175	-0.38;-0.38	5.53	3.66	0.41972	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.78735	0.4330	M	0.78801	2.425	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.77726	-0.2480	10	0.66056	D	0.02	.	7.6136	0.28145	0.0:0.7391:0.0:0.2609	.	415	Q9BVG3	TRI62_HUMAN	N	415;294	ENSP00000291416:K415N;ENSP00000441173:K294N	ENSP00000291416:K415N	K	-	3	2	TRIM62	33385548	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.965000	0.40471	0.702000	0.31825	0.436000	0.28706	AAG		0.577	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		12	50	1	0	3.07112e-06	1	3.18924e-06	12	50				
SLC12A7	10723	broad.mit.edu	37	5	1083970	1083970	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:1083970C>T	ENST00000264930.5	-	8	1062	c.1019G>A	c.(1018-1020)gGc>gAc	p.G340D		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	340					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCAGAAGAGGCCCCAGAGCGC	0.652																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(1018-1020)gGc>gAc		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						85.0	77.0	80.0					5																	1083970		2201	4300	6501	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1083970C>T	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1019G>A	5.37:g.1083970C>T	ENSP00000264930:p.Gly340Asp						p.G340D	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		8	1062	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		340					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.1019G>A	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	C	3.663	-0.069205	0.07228	.	.	ENSG00000113504	ENST00000264930	T	0.62498	0.02	3.67	2.47	0.30058	.	1.918370	0.01715	N	0.027955	T	0.39009	0.1062	N	0.12961	0.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45234	-0.9275	10	0.07325	T	0.83	.	0.8342	0.01137	0.2264:0.3761:0.2203:0.1772	.	340	Q9Y666	S12A7_HUMAN	D	340	ENSP00000264930:G340D	ENSP00000264930:G340D	G	-	2	0	SLC12A7	1136970	0.000000	0.05858	0.998000	0.56505	0.647000	0.38526	-1.350000	0.02624	1.763000	0.52060	0.471000	0.43371	GGC		0.652	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		11	23	0	0	0	1	0	11	23				
ADAMTS6	11174	broad.mit.edu	37	5	64629882	64629882	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:64629882G>T	ENST00000536360.1	-	8	1917	c.1104C>A	c.(1102-1104)ccC>ccA	p.P368P				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	368	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GTGTTCCACAGGGCTTATTTT	0.264																																						ENST00000536360.1																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18						c.(1102-1104)ccC>ccA		ADAM metallopeptidase with thrombospondin type 1 motif, 6							50.0	55.0	53.0					5																	64629882		2200	4298	6498	SO:0001819	synonymous_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64629882G>T	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.1104C>A	5.37:g.64629882G>T							p.P368P			Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	8	1917	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	368			Peptidase M12B.		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Silent	SNP	ENST00000536360.1	37	c.1104C>A																																																																																					0.264	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941		10	26	1	0	1.58986e-06	1	1.6611e-06	10	26				
SLITRK4	139065	broad.mit.edu	37	X	142716669	142716669	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:142716669G>A	ENST00000381779.4	-	2	2481	c.2256C>T	c.(2254-2256)agC>agT	p.S752S	SLITRK4_ENST00000356928.1_Silent_p.S752S|SLITRK4_ENST00000338017.4_Silent_p.S752S	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	752						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAATCCCTGCTAGGGAATA	0.383																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(2254-2256)agC>agT		SLIT and NTRK-like family, member 4							98.0	98.0	98.0					X																	142716669		2203	4300	6503	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142716669G>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.2256C>T	X.37:g.142716669G>A						SLITRK4_ENST00000356928.1_Silent_p.S752S|SLITRK4_ENST00000338017.4_Silent_p.S752S	p.S752S	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	2481	-	Acute lymphoblastic leukemia(192;6.56e-05)		752					Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.2256C>T	CCDS14679.1																																																																																				0.383	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		17	63	0	0	0	1	0	17	63				
COL7A1	1294	broad.mit.edu	37	3	48626076	48626076	+	Splice_Site	SNP	C	C	T	rs537416600		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:48626076C>T	ENST00000328333.8	-	19	2693	c.2586G>A	c.(2584-2586)acG>acA	p.T862T	COL7A1_ENST00000454817.1_Splice_Site_p.T862T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	862	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTGCCTACGCGTAGTGACAA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19765	0.0		0.001	False		,,,				2504	0.0					ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.e19+1		collagen, type VII, alpha 1							68.0	71.0	70.0					3																	48626076		2203	4300	6503	SO:0001630	splice_region_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48626076C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2587+1G>A	3.37:g.48626076C>T						COL7A1_ENST00000454817.1_Splice_Site_p.T862_splice	p.T862_splice	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	19	2693	-			862			Fibronectin type-III 7.|Nonhelical region (NC1).		Q14054|Q16507	Splice_Site	SNP	ENST00000328333.8	37	c.2587_splice	CCDS2773.1																																																																																				0.587	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	Silent	19	30	0	0	0	1	0	19	30				
FZD9	8326	broad.mit.edu	37	7	72849235	72849235	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:72849235G>A	ENST00000344575.3	+	1	1127	c.898G>A	c.(898-900)Gcg>Acg	p.A300T		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	300					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGAGGCGGGCGCGCTCTACGT	0.632																																					Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(898-900)Gcg>Acg		frizzled family receptor 9							102.0	93.0	96.0					7																	72849235		2202	4300	6502	SO:0001583	missense	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849235G>A	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.898G>A	7.37:g.72849235G>A	ENSP00000345785:p.Ala300Thr						p.A300T	NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN			1	1127	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	300						Missense_Mutation	SNP	ENST00000344575.3	37	c.898G>A	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274937	0.40194	.	.	ENSG00000188763	ENST00000344575	T	0.44881	0.91	4.1	4.1	0.47936	GPCR, family 2-like (1);	0.215143	0.37348	U	0.002121	T	0.35098	0.0920	N	0.25647	0.755	0.38962	D	0.958568	P	0.45957	0.869	P	0.45406	0.479	T	0.15954	-1.0419	10	0.23302	T	0.38	.	15.6706	0.77270	0.0:0.0:1.0:0.0	.	300	O00144	FZD9_HUMAN	T	300	ENSP00000345785:A300T	ENSP00000345785:A300T	A	+	1	0	FZD9	72487171	1.000000	0.71417	0.208000	0.23602	0.921000	0.55340	3.465000	0.53064	2.004000	0.58718	0.411000	0.27672	GCG		0.632	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			27	43	0	0	0	1	0	27	43				
TAB1	10454	broad.mit.edu	37	22	39814776	39814776	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:39814776G>T	ENST00000216160.6	+	6	652	c.590G>T	c.(589-591)gGg>gTg	p.G197V	TAB1_ENST00000331454.3_Missense_Mutation_p.G197V	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	197	PP2C-like.				activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						ACAGTGGATGGGTTGCAGGTG	0.527																																						ENST00000216160.6																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						c.(589-591)gGg>gTg		TGF-beta activated kinase 1/MAP3K7 binding protein 1							160.0	122.0	135.0					22																	39814776		2203	4300	6503	SO:0001583	missense	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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	cytosol|endosome membrane	catalytic activity|protein binding	g.chr22:39814776G>T	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.590G>T	22.37:g.39814776G>T	ENSP00000216160:p.Gly197Val					TAB1_ENST00000331454.3_Missense_Mutation_p.G197V	p.G197V	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN			6	652	+			197			PP2C-like.		Q2PP09|Q8IZW2	Missense_Mutation	SNP	ENST00000216160.6	37	c.590G>T	CCDS13993.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261553	0.80358	.	.	ENSG00000100324	ENST00000216160;ENST00000331454	T;T	0.16743	2.32;2.32	4.89	4.89	0.63831	Protein phosphatase 2C-like (4);	0.146694	0.46758	D	0.000274	T	0.46521	0.1397	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.912;0.972;0.999	T	0.51052	-0.8754	10	0.72032	D	0.01	-14.7886	18.2498	0.89998	0.0:0.0:1.0:0.0	.	197;197;341	Q15750-2;Q15750;Q59FT7	.;TAB1_HUMAN;.	V	197	ENSP00000216160:G197V;ENSP00000333049:G197V	ENSP00000216160:G197V	G	+	2	0	TAB1	38144722	1.000000	0.71417	0.988000	0.46212	0.776000	0.43924	8.145000	0.89625	2.539000	0.85634	0.655000	0.94253	GGG		0.527	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		12	39	1	0	0.000151284	1	0.000154908	12	39				
BCORL1	63035	broad.mit.edu	37	X	129148510	129148510	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:129148510G>A	ENST00000218147.7	+	4	1959	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K	BCORL1_ENST00000540052.1_Missense_Mutation_p.E588K|BCORL1_ENST00000303743.5_Missense_Mutation_p.E588K|BCORL1_ENST00000359304.2_Missense_Mutation_p.E588K			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	588	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGTGGCACCGAGCAGCAAAC	0.612																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(1762-1764)Gag>Aag		BCL6 corepressor-like 1							67.0	57.0	60.0					X																	129148510		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129148510G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.1762G>A	X.37:g.129148510G>A	ENSP00000218147:p.Glu588Lys					BCORL1_ENST00000303743.5_Missense_Mutation_p.E588K|BCORL1_ENST00000359304.2_Missense_Mutation_p.E588K|BCORL1_ENST00000218147.7_Missense_Mutation_p.E588K	p.E588K	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	1806	+			588			Pro-rich.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.1762G>A	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.76|14.76	2.631250|2.631250	0.46944|0.46944	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822|ENST00000441294	T;T;T;T;T|.	0.51817|.	0.71;1.1;0.69;0.71;1.16|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.207707|.	0.24107|.	N|.	0.041486|.	T|T	0.51244|0.51244	0.1663|0.1663	L|L	0.27053|0.27053	0.805|0.805	0.33803|0.33803	D|D	0.626904|0.626904	D;D|.	0.76494|.	0.999;0.991|.	P;P|.	0.61201|.	0.885;0.546|.	T|T	0.59107|0.59107	-0.7516|-0.7516	10|5	0.16896|.	T|.	0.51|.	-13.6538|-13.6538	18.2929|18.2929	0.90136|0.90136	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	588;588|.	Q5H9F3-2;Q5H9F3|.	.;BCORL_HUMAN|.	K|Q	588;588;588;588;188|23	ENSP00000218147:E588K;ENSP00000307541:E588K;ENSP00000352253:E588K;ENSP00000437775:E588K;ENSP00000399483:E188K|.	ENSP00000218147:E588K|.	E|R	+|+	1|2	0|0	BCORL1|BCORL1	128976191|128976191	1.000000|1.000000	0.71417|0.71417	0.905000|0.905000	0.35620|0.35620	0.421000|0.421000	0.31385|0.31385	3.595000|3.595000	0.54016|0.54016	2.259000|2.259000	0.74868|0.74868	0.431000|0.431000	0.28591|0.28591	GAG|CGA		0.612	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		35	11	0	0	0	1	0	35	11				
COL27A1	85301	broad.mit.edu	37	9	117072950	117072950	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:117072950A>G	ENST00000356083.3	+	61	5949	c.5558A>G	c.(5557-5559)gAa>gGa	p.E1853G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1853	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TACCGCCTGGAAGTTGGACCT	0.607																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(5557-5559)gAa>gGa		collagen, type XXVII, alpha 1							159.0	118.0	132.0					9																	117072950		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117072950A>G	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5558A>G	9.37:g.117072950A>G	ENSP00000348385:p.Glu1853Gly						p.E1853G	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			61	5949	+			1853			Fibrillar collagen NC1.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.5558A>G	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.350259	0.61183	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	T	0.75704	-0.96	5.67	4.51	0.55191	Fibrillar collagen, C-terminal (4);	.	.	.	.	D	0.86711	0.5998	M	0.89414	3.03	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;D	0.81914	0.995;0.934	D	0.87488	0.2425	9	0.87932	D	0	.	10.3085	0.43695	0.8523:0.0:0.0:0.1477	.	168;1853	Q9HAA3;Q8IZC6	.;CORA1_HUMAN	G	1853;1860	ENSP00000348385:E1853G	ENSP00000348385:E1853G	E	+	2	0	COL27A1	116112771	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	0.947000	0.37659	0.459000	0.35465	GAA		0.607	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		11	29	0	0	0	1	0	11	29				
DCLRE1C	64421	broad.mit.edu	37	10	14961816	14961816	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:14961816G>A	ENST00000378278.2	-	13	1114	c.1077C>T	c.(1075-1077)tgC>tgT	p.C359C	DCLRE1C_ENST00000378242.1_Silent_p.C12C|DCLRE1C_ENST00000378258.1_Silent_p.C239C|DCLRE1C_ENST00000378255.1_Silent_p.C239C|DCLRE1C_ENST00000357717.2_Silent_p.C244C|DCLRE1C_ENST00000396817.2_Silent_p.C239C|DCLRE1C_ENST00000378289.4_Silent_p.C359C|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378249.1_Silent_p.C244C|DCLRE1C_ENST00000378254.1_Silent_p.C239C|DCLRE1C_ENST00000378246.2_Silent_p.C244C|DCLRE1C_ENST00000453695.2_Silent_p.C239C			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	359					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GGGAAGACCGGCATAAAGGCT	0.378								Non-homologous end-joining																														ENST00000453695.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						c.(715-717)tgC>tgT	Non-homologous end-joining	DNA cross-link repair 1C							114.0	110.0	111.0					10																	14961816		2203	4300	6503	SO:0001819	synonymous_variant	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14961816G>A	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1077C>T	10.37:g.14961816G>A						DCLRE1C_ENST00000357717.2_Silent_p.C244C|DCLRE1C_ENST00000396817.2_Silent_p.C239C|DCLRE1C_ENST00000378246.2_Silent_p.C244C|DCLRE1C_ENST00000378258.1_Silent_p.C239C|DCLRE1C_ENST00000378242.1_Silent_p.C12C|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378254.1_Silent_p.C239C|DCLRE1C_ENST00000378255.1_Silent_p.C239C|DCLRE1C_ENST00000378249.1_Silent_p.C244C|DCLRE1C_ENST00000378278.2_Silent_p.C359C|DCLRE1C_ENST00000378289.4_Silent_p.C359C	p.C239C	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN			13	1161	-			359					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Silent	SNP	ENST00000378278.2	37	c.717C>T	CCDS31149.1																																																																																				0.378	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		5	65	0	0	0	1	0	5	65				
TNKS2	80351	broad.mit.edu	37	10	93572757	93572757	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:93572757G>A	ENST00000371627.4	+	2	596	c.217G>A	c.(217-219)Gta>Ata	p.V73I		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	73					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCGGAAAGACGTAGTTGAATA	0.383																																						ENST00000371627.4																			0				biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.(217-219)Gta>Ata		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2							182.0	161.0	168.0					10																	93572757		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93572757G>A	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.217G>A	10.37:g.93572757G>A	ENSP00000360689:p.Val73Ile						p.V73I	NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			2	596	+		Colorectal(252;0.162)	73					B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.217G>A	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123010	0.77436	.	.	ENSG00000107854	ENST00000371627	T	0.62498	0.02	5.79	5.79	0.91817	Ankyrin repeat-containing domain (4);	0.000000	0.49916	D	0.000140	T	0.44222	0.1283	N	0.02985	-0.445	0.58432	D	0.999999	B	0.25667	0.131	B	0.28638	0.092	T	0.43147	-0.9409	10	0.45353	T	0.12	.	20.0313	0.97540	0.0:0.0:1.0:0.0	.	73	Q9H2K2	TNKS2_HUMAN	I	73	ENSP00000360689:V73I	ENSP00000360689:V73I	V	+	1	0	TNKS2	93562737	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.722000	0.98770	2.746000	0.94184	0.655000	0.94253	GTA		0.383	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		8	72	0	0	0	1	0	8	72				
RANBP9	10048	broad.mit.edu	37	6	13644861	13644861	+	Missense_Mutation	SNP	C	C	T	rs201882272		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:13644861C>T	ENST00000011619.3	-	6	1086	c.1028G>A	c.(1027-1029)cGg>cAg	p.R343Q	RANBP9_ENST00000539980.1_Missense_Mutation_p.R114Q	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	343					axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)	p.R343L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TCTCCACTCCCGCATATAGTC	0.433																																						ENST00000011619.3																			1	Substitution - Missense(1)	p.R343L(1)	lung(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(1027-1029)cGg>cAg		RAN binding protein 9							139.0	131.0	134.0					6																	13644861		2203	4300	6503	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13644861C>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1028G>A	6.37:g.13644861C>T	ENSP00000011619:p.Arg343Gln					RANBP9_ENST00000539980.1_Missense_Mutation_p.R114Q	p.R343Q	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		6	1086	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	343					A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.1028G>A	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450270	0.84101	.	.	ENSG00000010017	ENST00000011619;ENST00000539980	T;T	0.60299	0.2;0.2	5.17	5.17	0.71159	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.67468	0.2896	L	0.58101	1.795	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.64495	-0.6394	10	0.38643	T	0.18	-12.8075	19.037	0.92983	0.0:1.0:0.0:0.0	.	343	Q96S59	RANB9_HUMAN	Q	343;114	ENSP00000011619:R343Q;ENSP00000438162:R114Q	ENSP00000011619:R343Q	R	-	2	0	RANBP9	13752840	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	7.776000	0.85560	2.557000	0.86248	0.557000	0.71058	CGG		0.433	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			23	61	0	0	0	1	0	23	61				
CDH1	999	broad.mit.edu	37	16	68844157	68844157	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:68844157T>G	ENST00000261769.5	+	6	936	c.745T>G	c.(745-747)Ttg>Gtg	p.L249V	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.L249V	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	249	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(4)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AATGGAGATTTTGATCACGGT	0.483			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""Mis, N, F, S"""	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	"""lobular breast, gastric"""		4	Unknown(4)	p.?(4)	breast(4)	NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.(745-747)Ttg>Gtg		cadherin 1, type 1, E-cadherin (epithelial)							159.0	147.0	151.0					16																	68844157		2198	4300	6498	SO:0001583	missense	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68844157T>G	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.745T>G	16.37:g.68844157T>G	ENSP00000261769:p.Leu249Val					CDH1_ENST00000422392.2_Missense_Mutation_p.L249V|CDH1_ENST00000562836.1_3'UTR	p.L249V	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	6	936	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	249			Cadherin 1.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.745T>G	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	T	0.121	-1.125193	0.01770	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.50548	0.74;0.74	5.22	4.26	0.50523	Cadherin (4);Cadherin-like (1);	0.154245	0.29775	N	0.011240	T	0.14442	0.0349	N	0.00996	-1.065	0.23391	N	0.997778	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22277	-1.0221	10	0.10377	T	0.69	.	4.5883	0.12294	0.0825:0.1508:0.6046:0.1621	.	249;249	Q9UII8;P12830	.;CADH1_HUMAN	V	249	ENSP00000261769:L249V;ENSP00000414946:L249V	ENSP00000261769:L249V	L	+	1	2	CDH1	67401658	0.939000	0.31865	0.963000	0.40424	0.402000	0.30811	1.695000	0.37763	1.319000	0.45190	-0.294000	0.09567	TTG		0.483	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		38	82	0	0	0	1	0	38	82				
MYO9B	4650	broad.mit.edu	37	19	17305687	17305687	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:17305687C>T	ENST00000594824.1	+	22	3598	c.3451C>T	c.(3451-3453)Cgt>Tgt	p.R1151C	MYO9B_ENST00000397274.2_Missense_Mutation_p.R1151C|MYO9B_ENST00000595618.1_Missense_Mutation_p.R1151C			Q13459	MYO9B_HUMAN	myosin IXB	1151	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCGTGAGTCGCGTCGGCAAAG	0.592																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(3451-3453)Cgt>Tgt		myosin IXB							51.0	61.0	57.0					19																	17305687		2168	4272	6440	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17305687C>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.3451C>T	19.37:g.17305687C>T	ENSP00000471367:p.Arg1151Cys					MYO9B_ENST00000594824.1_Missense_Mutation_p.R1151C|MYO9B_ENST00000397274.2_Missense_Mutation_p.R1151C	p.R1151C	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			22	3603	+			1151			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.3451C>T		.	.	.	.	.	.	.	.	.	.	C	13.51	2.257406	0.39896	.	.	ENSG00000099331	ENST00000397274	D	0.86769	-2.17	5.36	3.17	0.36434	.	0.000000	0.48767	D	0.000163	D	0.89354	0.6691	L	0.36672	1.1	0.34300	D	0.68426	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	D	0.91885	0.5519	10	0.87932	D	0	.	12.5895	0.56436	0.301:0.699:0.0:0.0	.	1151;1151;1157	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	C	1151	ENSP00000380444:R1151C	ENSP00000380444:R1151C	R	+	1	0	MYO9B	17166687	0.804000	0.28969	0.011000	0.14972	0.115000	0.19883	1.487000	0.35540	0.612000	0.30071	0.561000	0.74099	CGT		0.592	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			19	35	0	0	0	1	0	19	35				
NUF2	83540	broad.mit.edu	37	1	163317627	163317627	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:163317627C>T	ENST00000271452.3	+	12	1302	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	NUF2_ENST00000367900.3_Silent_p.F341F|NUF2_ENST00000524800.1_Silent_p.F294F	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	341	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AAAATTCGTTCAAAAGACTGA	0.338																																						ENST00000271452.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1021-1023)ttC>ttT		NUF2, NDC80 kinetochore complex component							83.0	84.0	83.0					1																	163317627		2203	4300	6503	SO:0001819	synonymous_variant	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163317627C>T	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1023C>T	1.37:g.163317627C>T						NUF2_ENST00000524800.1_Silent_p.F294F|NUF2_ENST00000367900.3_Silent_p.F341F	p.F341F	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN			12	1302	+	all_hematologic(923;0.101)		341			Interaction with the N-terminus of NDC80.		Q8WU69|Q96HJ4|Q96Q78	Silent	SNP	ENST00000271452.3	37	c.1023C>T	CCDS1245.1																																																																																				0.338	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		4	34	0	0	0	1	0	4	34				
LGI2	55203	broad.mit.edu	37	4	25005192	25005192	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:25005192C>T	ENST00000382114.4	-	8	1704	c.1519G>A	c.(1519-1521)Gtg>Atg	p.V507M		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	507						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GGCGCCTGCACGTAAATCTCC	0.408																																						ENST00000382114.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(1519-1521)Gtg>Atg		leucine-rich repeat LGI family, member 2							92.0	102.0	99.0					4																	25005192		2203	4300	6503	SO:0001583	missense	55203					extracellular region		g.chr4:25005192C>T	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1519G>A	4.37:g.25005192C>T	ENSP00000371548:p.Val507Met						p.V507M	NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN			8	1704	-		Breast(46;0.173)	507					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	c.1519G>A	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444320	0.63178	.	.	ENSG00000153012	ENST00000382114;ENST00000282970	D	0.81739	-1.53	5.57	5.57	0.84162	.	0.056412	0.64402	D	0.000001	D	0.82655	0.5084	L	0.39020	1.185	0.51767	D	0.999937	D	0.54397	0.966	P	0.54026	0.74	T	0.83287	-0.0035	10	0.52906	T	0.07	-24.6138	19.5537	0.95331	0.0:1.0:0.0:0.0	.	507	Q8N0V4	LGI2_HUMAN	M	507;155	ENSP00000371548:V507M	ENSP00000282970:V155M	V	-	1	0	LGI2	24614290	0.999000	0.42202	0.987000	0.45799	0.919000	0.55068	3.747000	0.55134	2.614000	0.88457	0.557000	0.71058	GTG		0.408	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			11	57	0	0	0	1	0	11	57				
CUX1	1523	broad.mit.edu	37	7	101921226	101921226	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:101921226C>T	ENST00000437600.4	+	18	1916	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	CUX1_ENST00000547394.2_Missense_Mutation_p.R508C|CUX1_ENST00000425244.2_Missense_Mutation_p.R478C|CUX1_ENST00000292538.4_Missense_Mutation_p.R524C|CUX1_ENST00000393824.3_Missense_Mutation_p.R485C|CUX1_ENST00000560541.1_3'UTR	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	335					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCAGGAGAACCGCCTGGCCCA	0.642																																						ENST00000437600.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(1564-1566)Cgc>Tgc		cut-like homeobox 1							15.0	14.0	15.0					7																	101921226		2192	4285	6477	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101921226C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000437600.4:c.1564C>T	7.37:g.101921226C>T	ENSP00000414091:p.Arg522Cys					CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.R478C|CUX1_ENST00000292538.4_Missense_Mutation_p.R524C|CUX1_ENST00000547394.2_Missense_Mutation_p.R508C|CUX1_ENST00000393824.3_Missense_Mutation_p.R485C	p.R522C	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN			18	1916	+			335					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000437600.4	37	c.1564C>T	CCDS47672.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049017	0.75846	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000425244;ENST00000437600	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	4.55	4.55	0.56014	CASP, C-terminal (1);	.	.	.	.	T	0.62122	0.2402	M	0.87097	2.86	0.37559	D	0.919008	D;D;D;D;D	0.89917	0.999;1.0;0.998;0.998;1.0	P;D;P;P;D	0.66847	0.877;0.947;0.899;0.731;0.916	T	0.72981	-0.4126	9	0.72032	D	0.01	.	12.8156	0.57663	0.1636:0.8364:0.0:0.0	.	485;478;508;522;524	B4DZZ2;B3KV79;G3V1Z6;Q13948-2;Q13948	.;.;.;.;CASP_HUMAN	C	524;508;478;522	ENSP00000292538:R524C;ENSP00000449371:R508C;ENSP00000409745:R478C;ENSP00000414091:R522C	ENSP00000292538:R524C	R	+	1	0	CUX1	101707946	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.716000	0.47219	2.281000	0.76405	0.456000	0.33151	CGC		0.642	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	NM_001913		3	2	0	0	0	1	0	3	2				
MED15	51586	broad.mit.edu	37	22	20939447	20939447	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:20939447C>T	ENST00000263205.7	+	16	2093	c.2024C>T	c.(2023-2025)cCc>cTc	p.P675L	MED15_ENST00000406969.1_Missense_Mutation_p.P609L|MED15_ENST00000292733.7_Missense_Mutation_p.P635L|MED15_ENST00000382974.2_Missense_Mutation_p.P564L|MED15_ENST00000425759.2_Missense_Mutation_p.P524L|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000541476.1_Missense_Mutation_p.P609L	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	675					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CAGAGCATCCCCAGTGTGCTC	0.642																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(2023-2025)cCc>cTc		mediator complex subunit 15							84.0	67.0	73.0					22																	20939447		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20939447C>T	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.2024C>T	22.37:g.20939447C>T	ENSP00000263205:p.Pro675Leu					MED15_ENST00000292733.7_Missense_Mutation_p.P635L|MED15_ENST00000541476.1_Missense_Mutation_p.P609L|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.P564L|MED15_ENST00000406969.1_Missense_Mutation_p.P609L|MED15_ENST00000425759.2_Missense_Mutation_p.P524L	p.P675L	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		16	2093	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	675					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.2024C>T	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980091	0.74474	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	4.68	4.68	0.58851	Mediator complex, subunit Med15, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.79787	0.4506	M	0.80332	2.49	0.80722	D	1	D;D;B;D;P;D	0.89917	1.0;1.0;0.121;1.0;0.946;1.0	D;D;B;D;P;D	0.91635	0.999;0.999;0.069;0.998;0.507;0.999	T	0.83168	-0.0095	9	0.87932	D	0	.	15.4264	0.75055	0.0:1.0:0.0:0.0	.	605;654;291;609;635;675	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	L	524;635;675;609;564;609;605	.	ENSP00000263205:P675L	P	+	2	0	MED15	19269447	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	7.566000	0.82347	2.308000	0.77769	0.313000	0.20887	CCC		0.642	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		19	27	0	0	0	1	0	19	27				
EVPL	2125	broad.mit.edu	37	17	74013981	74013981	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:74013981A>C	ENST00000301607.3	-	14	1802	c.1549T>G	c.(1549-1551)Tca>Gca	p.S517A	EVPL_ENST00000586740.1_Missense_Mutation_p.S539A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	517	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCCAGGTCTGAGCCAGATGGA	0.657																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(1549-1551)Tca>Gca		envoplakin							39.0	42.0	41.0					17																	74013981		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74013981A>C	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1549T>G	17.37:g.74013981A>C	ENSP00000301607:p.Ser517Ala					EVPL_ENST00000586740.1_Missense_Mutation_p.S539A	p.S517A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			14	1802	-			517			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.1549T>G	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	A	8.785	0.929177	0.18131	.	.	ENSG00000167880	ENST00000301607	T	0.63913	-0.07	4.88	-1.67	0.08238	.	0.237968	0.35235	N	0.003355	T	0.42154	0.1190	L	0.55103	1.725	0.09310	N	1	B;B	0.27229	0.047;0.172	B;B	0.25140	0.013;0.058	T	0.14559	-1.0468	10	0.10902	T	0.67	-0.644	1.4451	0.02362	0.3233:0.1629:0.3558:0.158	.	539;517	B7ZLH8;Q92817	.;EVPL_HUMAN	A	517	ENSP00000301607:S517A	ENSP00000301607:S517A	S	-	1	0	EVPL	71525576	0.001000	0.12720	0.013000	0.15412	0.047000	0.14425	0.053000	0.14184	0.003000	0.14656	0.459000	0.35465	TCA		0.657	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		10	19	0	0	0	1	0	10	19				
MYBPHL	343263	broad.mit.edu	37	1	109838900	109838900	+	Missense_Mutation	SNP	C	C	T	rs142341673		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:109838900C>T	ENST00000357155.1	-	6	872	c.823G>A	c.(823-825)Ggc>Agc	p.G275S	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	275	Ig-like C2-type 2.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GTATTATAGCCGGTGACTGTA	0.592																																						ENST00000357155.1																			0				central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14						c.(823-825)Ggc>Agc		myosin binding protein H-like		C	SER/GLY	0,4406		0,0,2203	96.0	104.0	101.0		823	4.2	0.9	1	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYBPHL	NM_001010985.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	275/355	109838900	1,13005	2203	4300	6503	SO:0001583	missense	343263							g.chr1:109838900C>T	AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.823G>A	1.37:g.109838900C>T	ENSP00000349678:p.Gly275Ser					MYBPHL_ENST00000477962.1_Intron	p.G275S	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)	6	872	-		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)	275			Ig-like C2-type 2.		B7ZME5|Q5T2Z7	Missense_Mutation	SNP	ENST00000357155.1	37	c.823G>A	CCDS30793.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887031	0.91814	0.0	1.16E-4	ENSG00000221986	ENST00000357155	T	0.81163	-1.46	5.16	4.23	0.50019	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90113	0.6911	M	0.93678	3.445	0.53688	D	0.999971	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	D	0.90615	0.4555	9	0.56958	D	0.05	.	11.7932	0.52082	0.0:0.913:0.0:0.087	.	252;275	B7ZME5;A2RUH7	.;MBPHL_HUMAN	S	275	ENSP00000349678:G275S	ENSP00000349678:G275S	G	-	1	0	MYBPHL	109640423	0.997000	0.39634	0.939000	0.37840	0.922000	0.55478	3.623000	0.54224	2.698000	0.92095	0.561000	0.74099	GGC		0.592	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985		8	40	0	0	0	1	0	8	40				
C1orf43	25912	broad.mit.edu	37	1	154179947	154179947	+	Silent	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:154179947T>A	ENST00000368521.5	-	7	942	c.744A>T	c.(742-744)acA>acT	p.T248T	C1orf43_ENST00000350592.3_Silent_p.T214T|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000368519.1_Silent_p.T230T|C1orf43_ENST00000362076.4_Silent_p.T196T|C1orf189_ENST00000368525.3_5'Flank	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	248						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TACTCTCCAATGTGTTATAGT	0.507																																						ENST00000368521.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10						c.(742-744)acA>acT		chromosome 1 open reading frame 43							146.0	147.0	146.0					1																	154179947		2203	4300	6503	SO:0001819	synonymous_variant	25912					integral to membrane	coenzyme binding|oxidoreductase activity	g.chr1:154179947T>A	AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.744A>T	1.37:g.154179947T>A						C1orf43_ENST00000350592.3_Silent_p.T214T|C1orf43_ENST00000368519.1_Silent_p.T230T|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000362076.4_Silent_p.T196T	p.T248T	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN			7	942	-	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)		248					A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Silent	SNP	ENST00000368521.5	37	c.744A>T	CCDS41404.1																																																																																				0.507	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449		29	61	0	0	0	1	0	29	61				
TCTE1	202500	broad.mit.edu	37	6	44268380	44268380	+	5'Flank	SNP	C	C	T	rs142694525		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:44268380C>T	ENST00000371505.4	-	0	0				AARS2_ENST00000244571.4_Silent_p.A954A|TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'UTR|TCTE1_ENST00000371503.3_5'Flank|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1											breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(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)			GTGAGCCCCACGCCTTGCCCC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		19615	0.0		0.001	False		,,,				2504	0.0					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.(2860-2862)gcG>gcA		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						77.0	66.0	70.0					6																	44268380		2203	4300	6503	SO:0001631	upstream_gene_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44268380C>T	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763		6.37:g.44268380C>T	Exception_encountered					TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'UTR	p.A954A	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		22	2864	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		954					B4DX59|Q8IYS6	Silent	SNP	ENST00000371505.4	37	c.2862G>A	CCDS4910.1																																																																																				0.612	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		18	42	0	0	0	1	0	18	42				
ZNF75D	7626	broad.mit.edu	37	X	134427900	134427900	+	Missense_Mutation	SNP	C	C	T	rs148068840		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:134427900C>T	ENST00000370766.3	-	3	2876	c.167G>A	c.(166-168)cGt>cAt	p.R56H	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.R56H	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	56	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTCATGATAACGGAAGCTCCA	0.478																																						ENST00000370766.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(166-168)cGt>cAt		zinc finger protein 75D		C	HIS/ARG,HIS/ARG	0,3835		0,0,1632,571	93.0	81.0	85.0		167,167	-3.4	0.0	X	dbSNP_134	85	1,6727		0,1,2427,1872	no	missense,missense	ZNF75D	NM_001185063.1,NM_007131.3	29,29	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign,benign	56/416,56/511	134427900	1,10562	2203	4300	6503	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134427900C>T	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.167G>A	X.37:g.134427900C>T	ENSP00000359802:p.Arg56His					ZNF75D_ENST00000370764.1_Missense_Mutation_p.R56H|ZNF75D_ENST00000494295.1_Intron	p.R56H	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN			3	2876	-			56			SCAN box.		A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.167G>A	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	C	8.261	0.811228	0.16537	0.0	1.49E-4	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.04317	3.65;3.65	2.96	-3.41	0.04839	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.02342	0.0072	N	0.13003	0.285	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.04013	0.001;0.001	T	0.48305	-0.9047	9	0.15499	T	0.54	.	5.1084	0.14796	0.1909:0.6096:0.0:0.1995	.	56;56	P51815;A6NK62	ZN75D_HUMAN;.	H	56	ENSP00000359802:R56H;ENSP00000359800:R56H	ENSP00000359800:R56H	R	-	2	0	ZNF75D	134255566	0.816000	0.29132	0.000000	0.03702	0.043000	0.13939	-0.649000	0.05384	-0.832000	0.04251	-0.514000	0.04452	CGT		0.478	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		4	54	0	0	0	1	0	4	54				
ZNF19	7567	broad.mit.edu	37	16	71516014	71516014	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:71516014C>T	ENST00000288177.5	-	3	259	c.4G>A	c.(4-6)Gca>Aca	p.A2T	ZNF19_ENST00000564230.1_Missense_Mutation_p.A2T|ZNF19_ENST00000565637.1_Intron|AC010547.9_ENST00000561908.1_Missense_Mutation_p.A2T|ZNF19_ENST00000565100.2_5'UTR|ZNF19_ENST00000568446.1_5'Flank|ZNF19_ENST00000567225.1_Missense_Mutation_p.A2T	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		GGCATGGCTGCCATGACCTGG	0.493																																						ENST00000561908.1																			0											c.(4-6)Gca>Aca									61.0	50.0	53.0					16																	71516014		2198	4300	6498	SO:0001583	missense	0							g.chr16:71516014C>T	X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"""Zinc fingers, C2H2-type"", ""-"""	12981	protein-coding gene	gene with protein product		194525	"""zinc finger protein 19 (KOX 12)"""			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.4G>A	16.37:g.71516014C>T	ENSP00000288177:p.Ala2Thr					ZNF19_ENST00000288177.5_Missense_Mutation_p.A2T|ZNF19_ENST00000567225.1_Missense_Mutation_p.A2T|ZNF19_ENST00000565637.1_Intron|ZNF19_ENST00000565100.2_5'UTR|ZNF19_ENST00000564230.1_Missense_Mutation_p.A2T	p.A2T							3	506	-								A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	37	c.4G>A	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165405	0.38217	.	.	ENSG00000157429	ENST00000288177	T	0.06068	3.35	2.76	-1.62	0.08372	.	.	.	.	.	T	0.05547	0.0146	L	0.51914	1.62	0.21527	N	0.999654	B	0.14805	0.011	B	0.08055	0.003	T	0.40213	-0.9575	9	0.41790	T	0.15	.	2.6199	0.04913	0.2154:0.3819:0.0:0.4026	.	2	P17023	ZNF19_HUMAN	T	2	ENSP00000288177:A2T	ENSP00000288177:A2T	A	-	1	0	ZNF19	70073515	0.963000	0.33076	0.833000	0.33012	0.222000	0.24845	-0.122000	0.10627	-0.343000	0.08351	0.591000	0.81541	GCA		0.493	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961		10	11	0	0	0	1	0	10	11				
POTEA	340441	broad.mit.edu	37	8	43147834	43147834	+	RNA	SNP	C	C	G	rs369755127		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:43147834C>G	ENST00000522175.2	+	0	209							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGGCAAGCTCCACAGAGCTG	0.582																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A							54.0	59.0	58.0					8																	43147834		2203	4300	6503			340441							g.chr8:43147834C>G	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43147834C>G										Q6S8J7	POTEA_HUMAN			0	209	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.582	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		17	40	0	0	0	1	0	17	40				
ZC3H6	376940	broad.mit.edu	37	2	113069447	113069447	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:113069447G>A	ENST00000409871.1	+	5	1081	c.680G>A	c.(679-681)cGa>cAa	p.R227Q	ZC3H6_ENST00000343936.4_Missense_Mutation_p.R227Q	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	227							metal ion binding (GO:0046872)	p.R227Q(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AAAATCAAACGAAAAGAACGT	0.368																																						ENST00000409871.1																			1	Substitution - Missense(1)	p.R227Q(1)	large_intestine(1)	central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(679-681)cGa>cAa		zinc finger CCCH-type containing 6							74.0	77.0	76.0					2																	113069447		1837	4084	5921	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113069447G>A	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.680G>A	2.37:g.113069447G>A	ENSP00000386764:p.Arg227Gln					ZC3H6_ENST00000343936.4_Missense_Mutation_p.R227Q	p.R227Q	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN			5	1081	+			227					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.680G>A	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437117	0.83885	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.15718	2.4;2.4	4.98	4.98	0.66077	.	0.414610	0.23752	N	0.044912	T	0.29028	0.0721	M	0.71581	2.175	0.33744	D	0.619769	D	0.62365	0.991	P	0.51895	0.683	T	0.44847	-0.9301	10	0.49607	T	0.09	-11.0204	10.8063	0.46520	0.0887:0.0:0.9113:0.0	.	227	P61129	ZC3H6_HUMAN	Q	227;227;204	ENSP00000386764:R227Q;ENSP00000340298:R227Q	ENSP00000340298:R227Q	R	+	2	0	ZC3H6	112785918	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.071000	0.57556	2.473000	0.83533	0.462000	0.41574	CGA		0.368	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		9	21	0	0	0	1	0	9	21				
IL2RB	3560	broad.mit.edu	37	22	37524301	37524301	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:37524301C>T	ENST00000216223.5	-	10	1689	c.1491G>A	c.(1489-1491)ggG>ggA	p.G497G		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	497					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGACCTCCTCCCCAGCCTCTC	0.692																																						ENST00000216223.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(1489-1491)ggG>ggA		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						24.0	27.0	26.0					22																	37524301		2202	4288	6490	SO:0001819	synonymous_variant	0				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524301C>T	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1491G>A	22.37:g.37524301C>T							p.G497G	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN			10	1689	-			497					B2R765	Silent	SNP	ENST00000216223.5	37	c.1491G>A	CCDS13942.1																																																																																				0.692	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			6	15	0	0	0	1	0	6	15				
MUC3A	4584	broad.mit.edu	37	7	100607859	100607859	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100607859C>T	ENST00000319509.7	+	5	2006	c.2006C>T	c.(2005-2007)gCc>gTc	p.A669V	RP11-395B7.2_ENST00000420080.1_RNA|RP11-395B7.2_ENST00000434775.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2334	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTCCAGAACGCCAGCCAGGAT	0.662																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(2005-2007)gCc>gTc		mucin 3A, cell surface associated							54.0	50.0	52.0					7																	100607859		876	1991	2867	SO:0001583	missense	4584							g.chr7:100607859C>T	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.2006C>T	7.37:g.100607859C>T	ENSP00000324834:p.Ala669Val					RP11-395B7.2_ENST00000420080.1_RNA	p.A669V							5	2006	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Missense_Mutation	SNP	ENST00000319509.7	37	c.2006C>T		.	.	.	.	.	.	.	.	.	.	C	8.770	0.925705	0.18056	.	.	ENSG00000169894	ENST00000319509;ENST00000422757	T;T	0.31247	1.5;1.5	2.96	0.86	0.19042	SEA (2);	.	.	.	.	T	0.12860	0.0312	N	0.03948	-0.315	.	.	.	B	0.23735	0.09	B	0.31869	0.137	T	0.37957	-0.9683	8	0.19147	T	0.46	-3.3502	5.3362	0.15959	0.0:0.6482:0.0:0.3518	.	2334	Q02505	MUC3A_HUMAN	V	669;159	ENSP00000324834:A669V;ENSP00000406404:A159V	ENSP00000324834:A669V	A	+	2	0	MUC3A	100394579	0.001000	0.12720	0.210000	0.23637	0.093000	0.18481	-0.008000	0.12788	0.017000	0.15025	0.514000	0.50259	GCC		0.662	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		9	21	0	0	0	1	0	9	21				
MAGED1	9500	broad.mit.edu	37	X	51639838	51639838	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:51639838C>T	ENST00000375722.1	+	4	1339	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Missense_Mutation_p.P363S|MAGED1_ENST00000375695.2_Missense_Mutation_p.P419S|MAGED1_ENST00000375772.3_Missense_Mutation_p.P363S			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	363	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CATTGTCTGGCCCGGCCCTGT	0.617										Multiple Myeloma(10;0.10)																												ENST00000375695.2																			0				breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(1255-1257)Ccc>Tcc		melanoma antigen family D, 1							36.0	35.0	35.0					X																	51639838		2203	4300	6503	SO:0001583	missense	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51639838C>T	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1087C>T	X.37:g.51639838C>T	ENSP00000364874:p.Pro363Ser	Multiple Myeloma(10;0.10)				MAGED1_ENST00000326587.7_Missense_Mutation_p.P363S|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Missense_Mutation_p.P363S|MAGED1_ENST00000375772.3_Missense_Mutation_p.P363S	p.P419S	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN			5	1408	+	Ovarian(276;0.236)		363			22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	c.1255C>T	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285225	0.40394	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	3.84	2.97	0.34412	.	0.000000	0.34531	N	0.003882	T	0.51007	0.1649	L	0.38175	1.15	0.30581	N	0.762541	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.941	T	0.48139	-0.9061	10	0.13108	T	0.6	.	9.0221	0.36206	0.0:0.8798:0.0:0.1202	.	419;363	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	S	363;363;363;419	ENSP00000364927:P363S;ENSP00000364874:P363S;ENSP00000325333:P363S;ENSP00000364847:P419S	ENSP00000325333:P363S	P	+	1	0	MAGED1	51656578	0.999000	0.42202	1.000000	0.80357	0.803000	0.45373	2.698000	0.47068	0.737000	0.32582	0.284000	0.19432	CCC		0.617	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		9	11	0	0	0	1	0	9	11				
SCN8A	6334	broad.mit.edu	37	12	52156425	52156425	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:52156425G>A	ENST00000354534.6	+	15	2687	c.2509G>A	c.(2509-2511)Gtg>Atg	p.V837M	SCN8A_ENST00000545061.1_Missense_Mutation_p.V837M|SCN8A_ENST00000550891.1_Missense_Mutation_p.V837M	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	837					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TCTAGCAGACGTGGAGGGGCT	0.413																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2509-2511)Gtg>Atg		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						121.0	119.0	119.0					12																	52156425		1878	4130	6008	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52156425G>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2509G>A	12.37:g.52156425G>A	ENSP00000346534:p.Val837Met					SCN8A_ENST00000550891.1_Missense_Mutation_p.V837M|SCN8A_ENST00000545061.1_Missense_Mutation_p.V837M	p.V837M	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	15	2687	+			837					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.2509G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404043	0.62288	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01	4.23	4.23	0.50019	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.98046	0.9356	L	0.37897	1.145	0.80722	D	1	D;D;D	0.89917	0.971;0.993;1.0	P;P;D	0.77557	0.576;0.713;0.99	D	0.97864	1.0282	10	0.40728	T	0.16	.	17.9135	0.88942	0.0:0.0:1.0:0.0	.	837;837;837	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	M	837;837;837;837;750	ENSP00000448415:V837M;ENSP00000346534:V837M;ENSP00000440360:V837M;ENSP00000347255:V837M	ENSP00000346534:V837M	V	+	1	0	SCN8A	50442692	1.000000	0.71417	0.994000	0.49952	0.973000	0.67179	9.601000	0.98297	2.632000	0.89209	0.455000	0.32223	GTG		0.413	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		19	56	0	0	0	1	0	19	56				
EPHA2	1969	broad.mit.edu	37	1	16458599	16458599	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:16458599C>T	ENST00000358432.5	-	13	2439	c.2285G>A	c.(2284-2286)cGc>cAc	p.R762H		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	762	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CTCCAGCACGCGGGACAGGCC	0.607																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(2284-2286)cGc>cAc		EPH receptor A2	Dasatinib(DB01254)						134.0	118.0	124.0					1																	16458599		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16458599C>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2285G>A	1.37:g.16458599C>T	ENSP00000351209:p.Arg762His						p.R762H	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	13	2439	-		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)	762			Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.2285G>A	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	36	5.680131	0.96774	.	.	ENSG00000142627	ENST00000358432	D	0.85258	-1.96	6.07	6.07	0.98685	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000021	D	0.94221	0.8145	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94700	0.7882	10	0.87932	D	0	.	18.1378	0.89627	0.0:1.0:0.0:0.0	.	762	P29317	EPHA2_HUMAN	H	762	ENSP00000351209:R762H	ENSP00000351209:R762H	R	-	2	0	EPHA2	16331186	1.000000	0.71417	0.973000	0.42090	0.963000	0.63663	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	CGC		0.607	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		11	67	0	0	0	1	0	11	67				
AKAP9	10142	broad.mit.edu	37	7	91726086	91726086	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:91726086C>T	ENST00000359028.2	+	41	10050	c.9825C>T	c.(9823-9825)aaC>aaT	p.N3275N	AKAP9_ENST00000356239.3_Silent_p.N3271N|AKAP9_ENST00000358100.2_Silent_p.N3221N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3275					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACTACTGAACGAATCCCAGC	0.383			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(9823-9825)aaC>aaT		A kinase (PRKA) anchor protein 9							64.0	67.0	66.0					7																	91726086		2203	4299	6502	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91726086C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9825C>T	7.37:g.91726086C>T						AKAP9_ENST00000356239.3_Silent_p.N3271N|AKAP9_ENST00000358100.2_Silent_p.N3221N	p.N3275N			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		41	10050	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3275					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.9825C>T																																																																																					0.383	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		6	69	0	0	0	1	0	6	69				
NONO	4841	broad.mit.edu	37	X	70516423	70516423	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:70516423G>A	ENST00000276079.8	+	6	864	c.659G>A	c.(658-660)cGt>cAt	p.R220H	NONO_ENST00000373856.3_Missense_Mutation_p.R220H|NONO_ENST00000535149.1_Missense_Mutation_p.R131H|NONO_ENST00000373841.1_Missense_Mutation_p.R220H|NONO_ENST00000490044.1_3'UTR	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	220	DBHS.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGATTTCCTCGTCCTGTGACT	0.438			T	TFE3	papillary renal cancer																																	ENST00000535149.1				Dom	yes		X	Xq13.1	4841	T	"""non-POU domain containing, octamer-binding"""			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(391-393)cGt>cAt		non-POU domain containing, octamer-binding							105.0	69.0	82.0					X																	70516423		2202	4300	6502	SO:0001583	missense	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70516423G>A	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.659G>A	X.37:g.70516423G>A	ENSP00000276079:p.Arg220His					NONO_ENST00000373841.1_Missense_Mutation_p.R220H|NONO_ENST00000373856.3_Missense_Mutation_p.R220H|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000276079.8_Missense_Mutation_p.R220H	p.R131H	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN			4	1035	+	Renal(35;0.156)		220			DBHS.|RRM 1.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	c.392G>A	CCDS14410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.88|17.88	3.498241|3.498241	0.64186|0.64186	.|.	.|.	ENSG00000147140|ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841|ENST00000418921	T;T;T;T|.	0.23147|.	1.93;1.92;1.92;1.92|.	4.57|4.57	4.57|4.57	0.56435|0.56435	RNA recognition motif domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79203|0.79203	0.4406|0.4406	M|M	0.84773|0.84773	2.715|2.715	0.80722|0.80722	D|D	1|1	B|.	0.18461|.	0.028|.	B|.	0.11329|.	0.006|.	T|T	0.82323|0.82323	-0.0514|-0.0514	10|5	0.87932|.	D|.	0|.	-9.4315|-9.4315	16.9552|16.9552	0.86257|0.86257	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	220|.	Q15233|.	NONO_HUMAN|.	H|I	131;220;220;220|82	ENSP00000441364:R131H;ENSP00000276079:R220H;ENSP00000362963:R220H;ENSP00000362947:R220H|.	ENSP00000276079:R220H|.	R|V	+|+	2|1	0|0	NONO|NONO	70433148|70433148	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.984000|0.984000	0.73092|0.73092	9.460000|9.460000	0.97641|0.97641	2.269000|2.269000	0.75478|0.75478	0.529000|0.529000	0.55759|0.55759	CGT|GTC		0.438	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		7	2	0	0	0	1	0	7	2				
TTC13	79573	broad.mit.edu	37	1	231057237	231057237	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:231057237T>C	ENST00000366661.4	-	16	1835	c.1828A>G	c.(1828-1830)Aac>Gac	p.N610D	TTC13_ENST00000414259.1_Missense_Mutation_p.N557D|TTC13_ENST00000366662.4_Missense_Mutation_p.N557D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	610										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TATCTCATGTTGATCACCTGA	0.259																																						ENST00000366661.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1828-1830)Aac>Gac		tetratricopeptide repeat domain 13							34.0	36.0	36.0					1																	231057237		2176	4269	6445	SO:0001583	missense	79573						binding	g.chr1:231057237T>C		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1828A>G	1.37:g.231057237T>C	ENSP00000355621:p.Asn610Asp					TTC13_ENST00000414259.1_Missense_Mutation_p.N557D|TTC13_ENST00000366662.4_Missense_Mutation_p.N557D	p.N610D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	16	1835	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	610					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.1828A>G	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.810989	0.70797	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259;ENST00000486879	T;T;T	0.47528	0.84;0.89;0.89	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	L	0.54323	1.7	0.80722	D	1	P;D;P;P	0.69078	0.476;0.997;0.859;0.618	B;D;B;B	0.73380	0.094;0.98;0.41;0.222	T	0.56649	-0.7944	10	0.18710	T	0.47	-16.5444	15.8221	0.78662	0.0:0.0:0.0:1.0	.	535;557;557;610	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	D	610;557;557;44	ENSP00000355621:N610D;ENSP00000355622:N557D;ENSP00000416631:N557D	ENSP00000355621:N610D	N	-	1	0	TTC13	229123860	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.779000	0.85648	2.139000	0.66308	0.533000	0.62120	AAC		0.259	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		6	47	0	0	0	1	0	6	47				
SURF6	6838	broad.mit.edu	37	9	136199101	136199101	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:136199101C>T	ENST00000372022.4	-	5	955	c.690G>A	c.(688-690)ccG>ccA	p.P230P	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	230					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		TCCCGGTCAGCGGCGTGAGGT	0.672																																						ENST00000372022.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12						c.(688-690)ccG>ccA		surfeit 6							54.0	59.0	57.0					9																	136199101		2203	4293	6496	SO:0001819	synonymous_variant	6838					granular component	DNA binding|RNA binding	g.chr9:136199101C>T	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"""surfeit locus protein 6"""	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.690G>A	9.37:g.136199101C>T						SURF6_ENST00000468290.1_5'UTR	p.P230P	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)	5	955	-			230					Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Silent	SNP	ENST00000372022.4	37	c.690G>A	CCDS6962.1																																																																																				0.672	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1	NM_006753		11	39	0	0	0	1	0	11	39				
GRK6	2870	broad.mit.edu	37	5	176859091	176859091	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:176859091G>A	ENST00000355472.5	+	3	412	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	GRK6_ENST00000528793.1_Missense_Mutation_p.A82T|GRK6_ENST00000393576.3_Missense_Mutation_p.A82T|GRK6_ENST00000355958.5_Missense_Mutation_p.A82T|GRK6_ENST00000507633.1_Missense_Mutation_p.A82T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	82	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGCTGCGTCGCCTTCCTGGA	0.687																																						ENST00000355472.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(244-246)Gcc>Acc		G protein-coupled receptor kinase 6							52.0	55.0	54.0					5																	176859091		2203	4300	6503	SO:0001583	missense	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176859091G>A		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.244G>A	5.37:g.176859091G>A	ENSP00000347655:p.Ala82Thr					GRK6_ENST00000528793.1_Missense_Mutation_p.A82T|GRK6_ENST00000355958.5_Missense_Mutation_p.A82T|GRK6_ENST00000393576.3_Missense_Mutation_p.A82T|GRK6_ENST00000507633.1_Missense_Mutation_p.A82T	p.A82T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	412	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	82			N-terminal.|RGS.		O60541|Q13652	Missense_Mutation	SNP	ENST00000355472.5	37	c.244G>A	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047044	0.36085	.	.	ENSG00000198055	ENST00000502598;ENST00000506296;ENST00000511244;ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793	T;T;T;T;T;T;T;T	0.01981	4.52;4.52;4.52;4.52;4.52;4.52;4.52;4.52	5.26	2.28	0.28536	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.409344	0.26883	N	0.022002	T	0.00998	0.0033	N	0.04880	-0.145	0.29643	N	0.844566	B;B;B;B	0.26041	0.02;0.021;0.09;0.14	B;B;B;B	0.14578	0.003;0.011;0.006;0.011	T	0.39881	-0.9592	10	0.30078	T	0.28	-14.3538	1.1054	0.01693	0.2691:0.1575:0.4118:0.1616	.	82;52;82;82	P43250;B3KPS5;P43250-2;D6RHX8	GRK6_HUMAN;.;.;.	T	50;50;50;82;82;82;82;82	ENSP00000422873:A50T;ENSP00000421055:A50T;ENSP00000425391:A50T;ENSP00000347655:A82T;ENSP00000427581:A82T;ENSP00000377204:A82T;ENSP00000348230:A82T;ENSP00000433511:A82T	ENSP00000347655:A82T	A	+	1	0	GRK6	176791697	0.000000	0.05858	0.889000	0.34880	0.559000	0.35586	0.739000	0.26173	1.214000	0.43395	-0.254000	0.11334	GCC		0.687	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		23	42	0	0	0	1	0	23	42				
TOP1MT	116447	broad.mit.edu	37	8	144406194	144406194	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:144406194G>T	ENST00000329245.4	-	7	969	c.935C>A	c.(934-936)gCg>gAg	p.A312E	TOP1MT_ENST00000521193.1_Missense_Mutation_p.A214E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.A214E|TOP1MT_ENST00000523676.1_Missense_Mutation_p.A214E	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	312					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CAGGGCCACCGCCCGCTGTCT	0.582																																						ENST00000523676.1																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23						c.(640-642)gCg>gAg		topoisomerase (DNA) I, mitochondrial	Irinotecan(DB00762)|Topotecan(DB01030)						93.0	101.0	98.0					8																	144406194		2203	4300	6503	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144406194G>T	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.935C>A	8.37:g.144406194G>T	ENSP00000328835:p.Ala312Glu					TOP1MT_ENST00000521193.1_Missense_Mutation_p.A214E|TOP1MT_ENST00000329245.4_Missense_Mutation_p.A312E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.A214E	p.A214E			Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		8	1046	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		312					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.641C>A	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566238	0.65651	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676;ENST00000522041	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	3.67	0.491	0.16867	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);DNA topoisomerase I, C-terminal (1);DNA topoisomerase I, catalytic core, alpha-helical subdomain, eukaryotic-type (1);	0.000000	0.42964	U	0.000625	D	0.84817	0.5556	H	0.97103	3.94	0.29506	N	0.854557	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.79652	-0.1714	10	0.87932	D	0	-4.1936	8.7369	0.34534	0.0:0.3074:0.5341:0.1585	.	107;312	E7ESI1;Q969P6	.;TOP1M_HUMAN	E	312;214;214;214;214	ENSP00000328835:A312E;ENSP00000428369:A214E;ENSP00000429169:A214E;ENSP00000429181:A214E;ENSP00000427998:A214E	ENSP00000328835:A312E	A	-	2	0	TOP1MT	144477569	0.994000	0.37717	0.000000	0.03702	0.285000	0.27093	5.047000	0.64232	-0.328000	0.08539	0.411000	0.27672	GCG		0.582	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		21	46	1	0	1.00905e-13	1	1.0852e-13	21	46				
RAB39B	116442	broad.mit.edu	37	X	154490316	154490316	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:154490316G>A	ENST00000369454.3	-	2	714	c.414C>T	c.(412-414)gcC>gcT	p.A138A		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	138					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)	p.A138A(2)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGTTTCTCGGCCTCGTGGC	0.488																																						ENST00000369454.3																			2	Substitution - coding silent(2)	p.A138A(2)	lung(2)	breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19						c.(412-414)gcC>gcT		RAB39B, member RAS oncogene family							121.0	104.0	110.0					X																	154490316		2203	4300	6503	SO:0001819	synonymous_variant	116442				protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	g.chrX:154490316G>A	AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"""RAB, member RAS oncogene"""	16499	protein-coding gene	gene with protein product		300774	"""mental retardation, X-linked 72"""	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.414C>T	X.37:g.154490316G>A							p.A138A	NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN			2	714	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		138					Q5JT79|Q8NEX3	Silent	SNP	ENST00000369454.3	37	c.414C>T	CCDS14766.1																																																																																				0.488	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998		48	26	0	0	0	1	0	48	26				
DAGLA	747	broad.mit.edu	37	11	61495643	61495643	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:61495643G>A	ENST00000257215.5	+	7	771	c.655G>A	c.(655-657)Gcc>Acc	p.A219T		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	219					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTCAGAAATCGCCTACCTCTT	0.617																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(655-657)Gcc>Acc		diacylglycerol lipase, alpha							191.0	174.0	179.0					11																	61495643		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61495643G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.655G>A	11.37:g.61495643G>A	ENSP00000257215:p.Ala219Thr						p.A219T	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	7	771	+			219					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.655G>A	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133867	0.94517	.	.	ENSG00000134780	ENST00000257215	T	0.55930	0.49	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.74496	0.3724	M	0.80847	2.515	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.78583	-0.2148	10	0.66056	D	0.02	-33.4404	18.4262	0.90610	0.0:0.0:1.0:0.0	.	219	Q9Y4D2	DGLA_HUMAN	T	219	ENSP00000257215:A219T	ENSP00000257215:A219T	A	+	1	0	DAGLA	61252219	1.000000	0.71417	0.999000	0.59377	0.829000	0.46940	9.359000	0.97115	2.430000	0.82344	0.555000	0.69702	GCC		0.617	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		5	77	0	0	0	1	0	5	77				
AHSA1	10598	broad.mit.edu	37	14	77935578	77935578	+	Missense_Mutation	SNP	G	G	A	rs141659647		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:77935578G>A	ENST00000216479.3	+	9	1163	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	AHSA1_ENST00000555457.1_3'UTR|SNORA46_ENST00000391069.1_RNA	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	335					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGGCTATGGCGCACGCTTATT	0.587																																						ENST00000216479.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8						c.(1003-1005)Gca>Aca		AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)		G	THR/ALA	0,4406		0,0,2203	129.0	123.0	125.0		1003	6.0	1.0	14	dbSNP_134	125	2,8598	2.2+/-6.3	0,2,4298	no	missense	AHSA1	NM_012111.2	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	335/339	77935578	2,13004	2203	4300	6503	SO:0001583	missense	10598				protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding	g.chr14:77935578G>A	AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"""chromosome 14 open reading frame 3"""	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.1003G>A	14.37:g.77935578G>A	ENSP00000216479:p.Ala335Thr					AHSA1_ENST00000555457.1_3'UTR	p.A335T	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	9	1163	+			335					B2R9L2|B4DUR9|Q96IL6|Q9P060	Missense_Mutation	SNP	ENST00000216479.3	37	c.1003G>A	CCDS9863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.848571|4.848571	0.91277|0.91277	0.0|0.0	2.33E-4|2.33E-4	ENSG00000100591|ENSG00000100591	ENST00000555133;ENST00000216479;ENST00000557476|ENST00000555729	T|.	0.44083|.	0.93|.	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69369|0.69369	0.3103|0.3103	L|L	0.43554|0.43554	1.36|1.36	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.78314|.	0.991|.	T|T	0.62511|0.62511	-0.6839|-0.6839	10|5	0.22706|.	T|.	0.39|.	-15.5019|-15.5019	20.4574|20.4574	0.99148|0.99148	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	335|.	O95433|.	AHSA1_HUMAN|.	T|H	200;335;117|129	ENSP00000451474:A117T|.	ENSP00000216479:A335T|.	A|R	+|+	1|2	0|0	AHSA1|AHSA1	77005331|77005331	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.994000|0.994000	0.84299|0.84299	7.810000|7.810000	0.86072|0.86072	2.843000|2.843000	0.97960|0.97960	0.591000|0.591000	0.81541|0.81541	GCA|CGC		0.587	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414017.1	NM_012111		26	69	0	0	0	1	0	26	69				
MKI67	4288	broad.mit.edu	37	10	129899559	129899559	+	Missense_Mutation	SNP	G	G	A	rs372006869		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:129899559G>A	ENST00000368654.3	-	14	10043	c.9668C>T	c.(9667-9669)aCg>aTg	p.T3223M	MKI67_ENST00000368653.3_Missense_Mutation_p.T2863M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3223					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GACACTCCGCGTTACTCTCTG	0.433																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(9667-9669)aCg>aTg		marker of proliferation Ki-67		G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	136.0	125.0	129.0		8588,9668	1.6	0.0	10		129	0,8600		0,0,4300	no	missense,missense	MKI67	NM_001145966.1,NM_002417.4	81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	2863/2897,3223/3257	129899559	1,13005	2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129899559G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9668C>T	10.37:g.129899559G>A	ENSP00000357643:p.Thr3223Met					MKI67_ENST00000368653.3_Missense_Mutation_p.T2863M	p.T3223M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			14	10043	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	3223					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.9668C>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	7.300	0.612871	0.14066	2.27E-4	0.0	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03330	4.01;3.97	3.43	1.57	0.23409	.	0.496991	0.17099	N	0.187079	T	0.02649	0.0080	L	0.27053	0.805	0.09310	N	1	P;P	0.50443	0.935;0.893	B;B	0.40864	0.342;0.142	T	0.46992	-0.9151	10	0.46703	T	0.11	.	4.9028	0.13782	0.1202:0.2184:0.6614:0.0	.	2863;3223	P46013-2;P46013	.;KI67_HUMAN	M	3223;2863;3222	ENSP00000357643:T3223M;ENSP00000357642:T2863M	ENSP00000357642:T2863M	T	-	2	0	MKI67	129789549	0.010000	0.17322	0.000000	0.03702	0.000000	0.00434	0.993000	0.29680	0.458000	0.26988	-0.150000	0.13652	ACG		0.433	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		7	74	0	0	0	1	0	7	74				
APLP1	333	broad.mit.edu	37	19	36363411	36363411	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:36363411G>A	ENST00000221891.4	+	7	1069	c.877G>A	c.(877-879)Ggt>Agt	p.G293S	APLP1_ENST00000537454.2_Missense_Mutation_p.G254S|APLP1_ENST00000586861.1_Missense_Mutation_p.G287S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	293	O-glycosylated at three sites.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCCACAGACGGTGTGGATAT	0.567																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(877-879)Ggt>Agt		amyloid beta (A4) precursor-like protein 1							164.0	160.0	162.0					19																	36363411		2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36363411G>A	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.877G>A	19.37:g.36363411G>A	ENSP00000221891:p.Gly293Ser					APLP1_ENST00000586861.1_Missense_Mutation_p.G287S|APLP1_ENST00000537454.2_Missense_Mutation_p.G254S	p.G293S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	1069	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		293					O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.877G>A	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361981	0.82353	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.48201	0.82;0.82	4.89	4.89	0.63831	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.48767	D	0.000173	T	0.62660	0.2446	L	0.51422	1.61	0.54753	D	0.999989	D;D;D;D	0.89917	1.0;0.97;1.0;1.0	D;P;D;D	0.91635	0.999;0.765;0.999;0.999	T	0.61628	-0.7024	10	0.41790	T	0.15	-14.0496	15.5407	0.76043	0.0:0.0:1.0:0.0	.	287;254;293;293	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	S	254;293	ENSP00000441501:G254S;ENSP00000221891:G293S	ENSP00000221891:G293S	G	+	1	0	APLP1	41055251	1.000000	0.71417	0.975000	0.42487	0.478000	0.33099	8.567000	0.90737	2.270000	0.75569	0.462000	0.41574	GGT		0.567	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		26	87	0	0	0	1	0	26	87				
PLCE1	51196	broad.mit.edu	37	10	96081787	96081787	+	Missense_Mutation	SNP	G	G	A	rs200549010		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:96081787G>A	ENST00000371380.3	+	29	6707	c.6472G>A	c.(6472-6474)Gtc>Atc	p.V2158I	PLCE1_ENST00000371385.3_Missense_Mutation_p.V1850I|NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000260766.3_Missense_Mutation_p.V2158I|PLCE1_ENST00000371375.1_Missense_Mutation_p.V1850I			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2158	Ras-associating 2. {ECO:0000255|PROSITE- ProRule:PRU00166}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGCACCCCGCGTCAGCACTGC	0.478																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(6472-6474)Gtc>Atc		phospholipase C, epsilon 1							101.0	104.0	103.0					10																	96081787		2078	4220	6298	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96081787G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.6472G>A	10.37:g.96081787G>A	ENSP00000360431:p.Val2158Ile					PLCE1_ENST00000371380.2_Missense_Mutation_p.V2158I|NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371375.1_Missense_Mutation_p.V1850I|PLCE1_ENST00000371385.3_Missense_Mutation_p.V1850I	p.V2158I	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			30	7106	+		Colorectal(252;0.0458)	2158			Ras-associating 2.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.6472G>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861629	0.32884	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	6.02	2.04	0.26737	Ras-association (3);	0.219672	0.40144	N	0.001167	T	0.08758	0.0217	N	0.22421	0.69	0.53688	D	0.999975	B;B;B	0.23937	0.094;0.036;0.094	B;B;B	0.25884	0.064;0.023;0.064	T	0.25047	-1.0143	10	0.22706	T	0.39	.	3.0153	0.06058	0.1309:0.2977:0.3761:0.1953	.	2142;1850;2158	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	I	2158;2158;1850;1850	ENSP00000260766:V2158I;ENSP00000360431:V2158I;ENSP00000360438:V1850I;ENSP00000360426:V1850I	ENSP00000260766:V2158I	V	+	1	0	PLCE1	96071777	0.984000	0.35163	0.453000	0.27007	0.908000	0.53690	1.943000	0.40253	0.457000	0.26962	-0.150000	0.13652	GTC		0.478	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		14	23	0	0	0	1	0	14	23				
TERF2	7014	broad.mit.edu	37	16	69400909	69400909	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:69400909A>G	ENST00000254942.3	-	7	1157	c.1141T>C	c.(1141-1143)Tca>Cca	p.S381P	TERF2_ENST00000603068.1_Missense_Mutation_p.S339P|TERF2_ENST00000569611.2_5'Flank	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	381					age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				GCCGGGGCTGAACTTTCGTTT	0.517																																					Ovarian(13;63 524 30420 31710 34037)	ENST00000254942.3																			0				NS(2)|breast(1)|large_intestine(3)|lung(1)	7						c.(1141-1143)Tca>Cca		telomeric repeat binding factor 2							88.0	86.0	87.0					16																	69400909		2198	4300	6498	SO:0001583	missense	7014				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity	g.chr16:69400909A>G		CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.1141T>C	16.37:g.69400909A>G	ENSP00000254942:p.Ser381Pro					TERF2_ENST00000603068.1_Missense_Mutation_p.S339P	p.S381P	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN			7	1157	-		Ovarian(137;0.101)	339						Missense_Mutation	SNP	ENST00000254942.3	37	c.1141T>C		.	.	.	.	.	.	.	.	.	.	A	18.81	3.704116	0.68615	.	.	ENSG00000132604	ENST00000254942	.	.	.	6.07	4.96	0.65561	.	0.825204	0.11196	N	0.589354	T	0.56470	0.1987	L	0.46157	1.445	0.80722	D	1	D	0.55800	0.973	P	0.51582	0.674	T	0.46105	-0.9215	9	0.45353	T	0.12	-7.3134	10.5995	0.45358	0.8394:0.1606:0.0:0.0	.	339	Q15554	TERF2_HUMAN	P	339	.	ENSP00000254942:S339P	S	-	1	0	TERF2	67958410	0.756000	0.28383	0.994000	0.49952	0.851000	0.48451	0.812000	0.27211	1.080000	0.41073	0.533000	0.62120	TCA		0.517	TERF2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000268944.2			19	31	0	0	0	1	0	19	31				
KIF16B	55614	broad.mit.edu	37	20	16359674	16359674	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:16359674C>A	ENST00000354981.2	-	19	3130	c.2973G>T	c.(2971-2973)aaG>aaT	p.K991N	KIF16B_ENST00000408042.1_Missense_Mutation_p.K991N|KIF16B_ENST00000378003.2_Missense_Mutation_p.K217N|KIF16B_ENST00000355755.3_Missense_Mutation_p.K991N	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	991	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCAAAATCTCCTTTTCCTTTT	0.547																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(2971-2973)aaG>aaT		kinesin family member 16B							132.0	134.0	133.0					20																	16359674		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359674C>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2973G>T	20.37:g.16359674C>A	ENSP00000347076:p.Lys991Asn					KIF16B_ENST00000355755.3_Missense_Mutation_p.K991N|KIF16B_ENST00000378003.2_Missense_Mutation_p.K217N|KIF16B_ENST00000408042.1_Missense_Mutation_p.K991N	p.K991N	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	3130	-			991			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.2973G>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808132	0.70797	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.77489	-1.02;-1.02;1.94;-1.1	5.52	0.861	0.19048	.	0.047866	0.85682	D	0.000000	T	0.81513	0.4838	L	0.59436	1.845	0.44061	D	0.996801	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.87578	0.997;0.998;0.982;0.937	T	0.76822	-0.2817	10	0.38643	T	0.18	.	6.7644	0.23558	0.0:0.3983:0.0:0.6017	.	991;991;991;991	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	N	991;991;835;217;991	ENSP00000347076:K991N;ENSP00000347995:K991N;ENSP00000367242:K217N;ENSP00000384164:K991N	ENSP00000347076:K991N	K	-	3	2	KIF16B	16307674	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	0.941000	0.29005	0.388000	0.25054	0.655000	0.94253	AAG		0.547	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		31	78	1	0	1.75199e-13	1	1.88027e-13	31	78				
PLAA	9373	broad.mit.edu	37	9	26925851	26925851	+	Missense_Mutation	SNP	C	C	T	rs138585651	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:26925851C>T	ENST00000397292.3	-	6	1258	c.841G>A	c.(841-843)Gac>Aac	p.D281N	PLAA_ENST00000520884.1_Missense_Mutation_p.D281N	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	281					inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TCACCATTGTCGAGCACACAG	0.433													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18425	0.0		0.0	False		,,,				2504	0.0				Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(841-843)Gac>Aac		phospholipase A2-activating protein		C	ASN/ASP	10,4396	15.5+/-35.6	0,10,2193	180.0	146.0	158.0		841	4.3	1.0	9	dbSNP_134	158	0,8600		0,0,4300	yes	missense	PLAA	NM_001031689.2	23	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	benign	281/796	26925851	10,12996	2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26925851C>T	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.841G>A	9.37:g.26925851C>T	ENSP00000380460:p.Asp281Asn					PLAA_ENST00000520884.1_Missense_Mutation_p.D281N	p.D281N	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	6	1258	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	281					Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.841G>A	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061001	0.36373	0.00227	0.0	ENSG00000137055	ENST00000397292;ENST00000520884	T;T	0.17854	2.25;2.25	4.31	4.31	0.51392	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.308196	0.34725	N	0.003725	T	0.12220	0.0297	N	0.16166	0.38	0.37254	D	0.9067	B;B	0.14438	0.0;0.01	B;B	0.04013	0.0;0.001	T	0.10590	-1.0623	10	0.45353	T	0.12	-1.6067	17.1482	0.86771	0.0:1.0:0.0:0.0	.	281;281	E5RIM3;Q9Y263	.;PLAP_HUMAN	N	281	ENSP00000380460:D281N;ENSP00000429372:D281N	ENSP00000380460:D281N	D	-	1	0	PLAA	26915851	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	3.884000	0.56175	2.117000	0.64856	0.585000	0.79938	GAC		0.433	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		19	77	0	0	0	1	0	19	77				
STAG3L2	442582	broad.mit.edu	37	7	74301240	74301240	+	RNA	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:74301240C>T	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GCAGATAGCACGGATCTCAGG	0.458																																						ENST00000423186.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5															92.0	81.0	85.0					7																	74301240		2199	4257	6456			0					nucleus	binding	g.chr7:74301240C>T			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74301240C>T										P0CL84	ST3L2_HUMAN			0	499	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	SNP	ENST00000423186.1	37			.	.	.	.	.	.	.	.	.	.	C	9.047	0.991199	0.18966	.	.	ENSG00000160828	ENST00000457631;ENST00000448772;ENST00000429726	.	.	.	.	.	.	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.310256	0.23626	N	0.046198	T	0.60353	0.2262	.	.	.	0.39116	D	0.961573	D	0.65815	0.995	P	0.62813	0.907	T	0.64437	-0.6408	5	.	.	.	.	5.8178	0.18506	0.0:0.999:0.0:0.001	.	22	P0CL84	ST3L2_HUMAN	H	22	.	.	R	-	2	0	STAG3L2	73939176	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	4.886000	0.63149	-0.000000	0.14550	0.000000	0.15137	CGT		0.458	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		55	131	0	0	0	1	0	55	131				
GPATCH1	55094	broad.mit.edu	37	19	33608948	33608948	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:33608948G>A	ENST00000170564.2	+	16	2727		c.e16+1			NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1						mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GTGGCTCACGGTATGTCAGTA	0.478																																					Pancreas(67;88 1713 4567 18227)	ENST00000170564.2																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.e16+1		G patch domain containing 1							58.0	55.0	56.0					19																	33608948		2203	4300	6503	SO:0001630	splice_region_variant	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33608948G>A	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.2413+1G>A	19.37:g.33608948G>A								NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN			16	2727	+	Esophageal squamous(110;0.137)							Q8IZV6|Q8N3B7|Q9NW94	Splice_Site	SNP	ENST00000170564.2	37		CCDS12428.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699626	0.30142	.	.	ENSG00000076650	ENST00000170564	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.49483	D	0.999794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9757	0.71269	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPATCH1	38300788	0.989000	0.36119	0.355000	0.25773	0.007000	0.05969	3.808000	0.55598	2.356000	0.79943	0.563000	0.77884	.		0.478	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025	Intron	7	20	0	0	0	1	0	7	20				
SPOP	8405	broad.mit.edu	37	17	47677762	47677762	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:47677762C>T	ENST00000393328.2	-	11	1468	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	SPOP_ENST00000504102.1_Missense_Mutation_p.R368H|SPOP_ENST00000503676.1_Missense_Mutation_p.R368H|SPOP_ENST00000347630.2_Missense_Mutation_p.R368H|SPOP_ENST00000393331.3_Missense_Mutation_p.R368H	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	368					glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGGCGTTTGCGTGGGGGTCC	0.542										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(1102-1104)cGc>cAc		speckle-type POZ protein							189.0	196.0	194.0					17																	47677762		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47677762C>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.1103G>A	17.37:g.47677762C>T	ENSP00000377001:p.Arg368His	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.R368H|SPOP_ENST00000503676.1_Missense_Mutation_p.R368H|SPOP_ENST00000393328.2_Missense_Mutation_p.R368H|SPOP_ENST00000347630.2_Missense_Mutation_p.R368H	p.R368H	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			12	1573	-			368					B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.1103G>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323239	0.60634	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	5.65	5.65	0.86999	.	0.116138	0.64402	D	0.000003	T	0.74794	0.3763	M	0.86028	2.79	0.80722	D	1	B	0.25667	0.131	B	0.18561	0.022	T	0.71170	-0.4671	10	0.31617	T	0.26	1.2459	19.5069	0.95121	0.0:1.0:0.0:0.0	.	368	O43791	SPOP_HUMAN	H	368;368;368;368;252;368;321	ENSP00000377001:R368H;ENSP00000377004:R368H;ENSP00000240327:R368H;ENSP00000425905:R368H;ENSP00000420908:R368H	ENSP00000240327:R368H	R	-	2	0	SPOP	45032761	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.505000	0.81655	2.941000	0.99782	0.655000	0.94253	CGC		0.542	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		10	162	0	0	0	1	0	10	162				
ARSF	416	broad.mit.edu	37	X	3002368	3002368	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:3002368G>A	ENST00000381127.1	+	6	712	c.491G>A	c.(490-492)gGc>gAc	p.G164D	ARSF_ENST00000359361.2_Missense_Mutation_p.G164D|ARSF_ENST00000537104.1_Missense_Mutation_p.G164D	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	164					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TACTACTATGGCATGCCGTTC	0.517																																						ENST00000381127.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(490-492)gGc>gAc		arylsulfatase F							150.0	115.0	127.0					X																	3002368		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002368G>A	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.491G>A	X.37:g.3002368G>A	ENSP00000370519:p.Gly164Asp					ARSF_ENST00000359361.2_Missense_Mutation_p.G164D|ARSF_ENST00000537104.1_Missense_Mutation_p.G164D	p.G164D	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN			6	712	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	164					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.491G>A	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.719512	0.48728	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.95622	-3.76;-3.76;-3.76	3.44	3.44	0.39384	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.124093	0.53938	U	0.000046	D	0.98520	0.9506	H	0.97940	4.11	0.58432	D	0.999999	D	0.76494	0.999	D	0.79108	0.992	D	0.99425	1.0934	10	0.72032	D	0.01	.	14.2993	0.66336	0.0:0.0:1.0:0.0	.	164	P54793	ARSF_HUMAN	D	164	ENSP00000370519:G164D;ENSP00000445594:G164D;ENSP00000352319:G164D	ENSP00000352319:G164D	G	+	2	0	ARSF	3012368	1.000000	0.71417	0.012000	0.15200	0.130000	0.20726	6.172000	0.71932	1.331000	0.45412	0.540000	0.68198	GGC		0.517	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			4	35	0	0	0	1	0	4	35				
EIF2B1	1967	broad.mit.edu	37	12	124106408	124106408	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:124106408C>T	ENST00000424014.2	-	9	1021	c.813G>A	c.(811-813)ccG>ccA	p.P271P	EIF2B1_ENST00000539951.1_3'UTR	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	271					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		AGTCGACCCACGGATGCTCCT	0.512																																						ENST00000424014.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(811-813)ccG>ccA		eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa							163.0	101.0	122.0					12																	124106408		2203	4300	6503	SO:0001819	synonymous_variant	1967				cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	g.chr12:124106408C>T	X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"""eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"""	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.813G>A	12.37:g.124106408C>T						EIF2B1_ENST00000539951.1_3'UTR	p.P271P	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)	9	1021	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		271					A6NLY9|B4DGX0|Q3SXP4	Silent	SNP	ENST00000424014.2	37	c.813G>A	CCDS31924.1																																																																																				0.512	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414		4	22	0	0	0	1	0	4	22				
ENC1	8507	broad.mit.edu	37	5	73931034	73931034	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:73931034A>G	ENST00000302351.4	-	2	2407	c.1277T>C	c.(1276-1278)aTg>aCg	p.M426T	ENC1_ENST00000510316.1_Missense_Mutation_p.M353T|ENC1_ENST00000537006.1_Missense_Mutation_p.M426T|ENC1_ENST00000509284.1_5'Flank	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	426					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGGGGCCACCATGGTCCATTT	0.552																																						ENST00000302351.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(1276-1278)aTg>aCg		ectodermal-neural cortex 1 (with BTB domain)							56.0	62.0	60.0					5																	73931034		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931034A>G	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1277T>C	5.37:g.73931034A>G	ENSP00000306356:p.Met426Thr					ENC1_ENST00000537006.1_Missense_Mutation_p.M426T|ENC1_ENST00000510316.1_Missense_Mutation_p.M353T	p.M426T	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	2407	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	426					B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.1277T>C	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.327313	0.41197	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.76060	-0.99;-0.99;-0.99	5.89	5.89	0.94794	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.57504	0.2058	N	0.05383	-0.06	0.80722	D	1	B	0.15719	0.014	B	0.23716	0.048	T	0.54323	-0.8311	10	0.18710	T	0.47	.	16.3123	0.82883	1.0:0.0:0.0:0.0	.	426	O14682	ENC1_HUMAN	T	426;353;426	ENSP00000306356:M426T;ENSP00000423804:M353T;ENSP00000446289:M426T	ENSP00000306356:M426T	M	-	2	0	ENC1	73966790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.333000	0.96459	2.254000	0.74563	0.459000	0.35465	ATG		0.552	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		20	45	0	0	0	1	0	20	45				
DCSTAMP	81501	broad.mit.edu	37	8	105367308	105367308	+	Silent	SNP	C	C	T	rs201469150		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:105367308C>T	ENST00000297581.2	+	3	1282	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	411					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.S411R(1)									TCTACCCCAGCGTGGAGAGGA	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		19862	0.0		0.001	False		,,,				2504	0.0					ENST00000297581.2																			1	Substitution - Missense(1)	p.S411R(1)	lung(1)								c.(1231-1233)agC>agT		dendrocyte expressed seven transmembrane protein							130.0	129.0	130.0					8																	105367308		2203	4300	6503	SO:0001819	synonymous_variant	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105367308C>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1233C>T	8.37:g.105367308C>T						DCSTAMP_ENST00000520080.1_3'UTR|DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	p.S411S	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN			3	1282	+			411					B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	ENST00000297581.2	37	c.1233C>T	CCDS6301.1																																																																																				0.438	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		27	44	0	0	0	1	0	27	44				
NSFL1C	55968	broad.mit.edu	37	20	1445045	1445045	+	Silent	SNP	G	G	A	rs191322139	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:1445045G>A	ENST00000216879.4	-	2	999	c.132C>T	c.(130-132)gaC>gaT	p.D44D	NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000353088.2_Silent_p.D44D|NSFL1C_ENST00000350991.4_Silent_p.D44D|NSFL1C_ENST00000476071.1_Silent_p.D44D	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	44						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CATCCCCTCCGTCCTCATAAA	0.522													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21490	0.001		0.0	False		,,,				2504	0.0					ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(130-132)gaC>gaT		NSFL1 (p97) cofactor (p47)							157.0	142.0	147.0					20																	1445045		2203	4300	6503	SO:0001819	synonymous_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1445045G>A	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.132C>T	20.37:g.1445045G>A						NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000353088.2_Silent_p.D44D|RP4-776F14.3_ENST00000553571.1_RNA|NSFL1C_ENST00000350991.4_Silent_p.D44D|NSFL1C_ENST00000476071.1_Silent_p.D44D	p.D44D	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN			2	999	-			44					A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Silent	SNP	ENST00000216879.4	37	c.132C>T	CCDS13015.1																																																																																				0.522	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		28	73	0	0	0	1	0	28	73				
ZNF772	400720	broad.mit.edu	37	19	57985397	57985397	+	Missense_Mutation	SNP	C	C	T	rs184861513		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:57985397C>T	ENST00000343280.4	-	5	975	c.715G>A	c.(715-717)Gag>Aag	p.E239K	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.E198K|ZNF772_ENST00000427512.2_Missense_Mutation_p.E127K|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000425074.3_3'UTR	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		GCATGGTGCTCGAAAATGCTT	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		20599	0.001		0.0	False		,,,				2504	0.0				Melanoma(5;289 436 14293 15924 30817)	ENST00000343280.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.(715-717)Gag>Aag		zinc finger protein 772							75.0	67.0	70.0					19																	57985397		2203	4300	6503	SO:0001583	missense	400720				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57985397C>T	BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.715G>A	19.37:g.57985397C>T	ENSP00000341165:p.Glu239Lys					ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000356584.3_Missense_Mutation_p.E198K|ZNF772_ENST00000427512.2_Missense_Mutation_p.E127K|AC004076.9_ENST00000415705.3_Intron	p.E239K	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)	5	975	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	239					A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	ENST00000343280.4	37	c.715G>A	CCDS33133.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	32	5.121854	0.94429	.	.	ENSG00000197128	ENST00000343280;ENST00000427512;ENST00000319969;ENST00000356584;ENST00000291809	T;T;T	0.14516	3.42;2.5;3.43	4.15	1.92	0.25849	.	.	.	.	.	T	0.05686	0.0149	N	0.10945	0.07	0.09310	N	0.999997	B;B;B	0.28258	0.001;0.056;0.205	B;B;B	0.19391	0.001;0.025;0.016	T	0.40683	-0.9550	9	0.12103	T	0.63	.	6.8937	0.24245	0.0:0.3675:0.4435:0.189	.	127;198;239	Q68DY9-2;A6NJK9;Q68DY9	.;.;ZN772_HUMAN	K	239;127;185;198;164	ENSP00000341165:E239K;ENSP00000395967:E127K;ENSP00000348992:E198K	ENSP00000291809:E164K	E	-	1	0	ZNF772	62677209	0.000000	0.05858	0.662000	0.29724	0.844000	0.47949	-0.613000	0.05610	0.991000	0.38814	-0.322000	0.08575	GAG		0.498	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596		4	47	0	0	0	1	0	4	47				
PPP1R16A	84988	broad.mit.edu	37	8	145722826	145722826	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:145722826C>T	ENST00000292539.4	+	2	1166	c.249C>T	c.(247-249)gaC>gaT	p.D83D	CTD-2517M22.14_ENST00000532766.1_RNA|PPP1R16A_ENST00000435887.1_Silent_p.D83D|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	83						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCCGAAATGACCTGGAAGAAG	0.662																																						ENST00000292539.4																			0				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8						c.(247-249)gaC>gaT		protein phosphatase 1, regulatory subunit 16A							46.0	44.0	45.0					8																	145722826		2202	4300	6502	SO:0001819	synonymous_variant	84988					plasma membrane	protein binding	g.chr8:145722826C>T		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.249C>T	8.37:g.145722826C>T						PPP1R16A_ENST00000435887.1_Silent_p.D83D|CTD-2517M14.5_ENST00000569326.1_RNA|CTD-2517M22.14_ENST00000532766.1_RNA	p.D83D			Q96I34	PP16A_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		2	1166	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		83					D3DWM5	Silent	SNP	ENST00000292539.4	37	c.249C>T	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	c	6.378	0.437898	0.12104	.	.	ENSG00000255182	ENST00000532766	.	.	.	4.81	2.0	0.26442	.	.	.	.	.	T	0.61060	0.2317	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62590	-0.6822	5	0.87932	D	0	.	6.4184	0.21730	0.0:0.6326:0.0:0.3674	.	.	.	.	D	149	.	ENSP00000435686:G149D	G	-	2	0	CTD-2517M22.14	145693634	0.129000	0.22400	0.998000	0.56505	0.141000	0.21300	0.131000	0.15870	1.050000	0.40346	-0.355000	0.07637	GGT		0.662	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		5	22	0	0	0	1	0	5	22				
SOGA3	387104	broad.mit.edu	37	6	127796901	127796901	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:127796901G>A	ENST00000525778.1	-	6	3015	c.2270C>T	c.(2269-2271)gCg>gTg	p.A757V	SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000368268.2_Missense_Mutation_p.A757V|SOGA3_ENST00000481848.2_Missense_Mutation_p.A757V|SOGA3_ENST00000556132.1_Missense_Mutation_p.A757V|SOGA3_ENST00000465909.2_Missense_Mutation_p.A757V			Q5TF21	SOGA3_HUMAN	SOGA family member 3	757					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CTTCTTGCCCGCGTCGCTCTC	0.697																																						ENST00000556132.1																			0											c.(2269-2271)gCg>gTg		SOGA family member 3							39.0	46.0	44.0					6																	127796901		2130	4229	6359	SO:0001583	missense	387104					integral to membrane		g.chr6:127796901G>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2270C>T	6.37:g.127796901G>A	ENSP00000434570:p.Ala757Val					SOGA3_ENST00000481848.2_Missense_Mutation_p.A757V|SOGA3_ENST00000368268.2_Missense_Mutation_p.A757V|SOGA3_ENST00000465909.2_Missense_Mutation_p.A757V|SOGA3_ENST00000525778.1_Missense_Mutation_p.A757V	p.A757V	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	3134	-			757						Missense_Mutation	SNP	ENST00000525778.1	37	c.2270C>T	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406340	0.62288	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.27	5.27	0.74061	.	0.285709	0.38005	N	0.001858	T	0.23249	0.0562	L	0.49126	1.545	0.48975	D	0.999737	P	0.48089	0.905	B	0.41440	0.357	T	0.06463	-1.0825	10	0.62326	D	0.03	-8.9632	18.91	0.92479	0.0:0.0:1.0:0.0	.	757	Q5TF21	CF174_HUMAN	V	757	ENSP00000451768:A757V;ENSP00000357251:A757V;ENSP00000434570:A757V;ENSP00000435559:A757V	ENSP00000435559:A757V	A	-	2	0	C6orf174	127838594	0.998000	0.40836	0.999000	0.59377	0.862000	0.49288	2.412000	0.44609	2.476000	0.83614	0.462000	0.41574	GCG		0.697	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		7	40	0	0	0	1	0	7	40				
CCSER1	401145	broad.mit.edu	37	4	91645133	91645133	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:91645133G>A	ENST00000509176.1	+	7	2289	c.2001G>A	c.(1999-2001)gtG>gtA	p.V667V	CCSER1_ENST00000333691.8_Silent_p.V667V|CCSER1_ENST00000432775.2_Silent_p.V667V|CCSER1_ENST00000504150.1_3'UTR	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	667																	AAGAGCCAGTGCCTTTCAAGG	0.343																																						ENST00000509176.1																			0											c.(1999-2001)gtG>gtA		coiled-coil serine-rich protein 1							28.0	25.0	26.0					4																	91645133		1826	4080	5906	SO:0001819	synonymous_variant	401145							g.chr4:91645133G>A		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.2001G>A	4.37:g.91645133G>A						CCSER1_ENST00000432775.2_Silent_p.V667V|CCSER1_ENST00000504150.1_3'UTR|CCSER1_ENST00000333691.8_Silent_p.V667V	p.V667V	NM_001145065.1	NP_001138537.1					7	2289	+								Q4W5M0|Q86V57	Silent	SNP	ENST00000509176.1	37	c.2001G>A	CCDS47099.1																																																																																				0.343	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		3	8	0	0	0	1	0	3	8				
CDH5	1003	broad.mit.edu	37	16	66413286	66413286	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:66413286G>A	ENST00000341529.3	+	2	194	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	CDH5_ENST00000563425.2_Missense_Mutation_p.G16S	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	16					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	CGCCTGCCTGGGCCTGCTGGC	0.627																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(46-48)Ggc>Agc		cadherin 5, type 2 (vascular endothelium)							64.0	70.0	68.0					16																	66413286		2202	4300	6502	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66413286G>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.46G>A	16.37:g.66413286G>A	ENSP00000344115:p.Gly16Ser					CDH5_ENST00000563425.2_Missense_Mutation_p.G16S	p.G16S	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	2	194	+		Ovarian(137;0.0955)	16					Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.46G>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492816	0.84962	.	.	ENSG00000179776	ENST00000341529;ENST00000379531	T	0.55234	0.53	4.28	-1.71	0.08133	.	.	.	.	.	T	0.36496	0.0969	N	0.08118	0	0.21325	N	0.999722	D	0.61080	0.989	P	0.55615	0.78	T	0.22417	-1.0217	9	0.30854	T	0.27	.	3.372	0.07224	0.4633:0.0:0.3488:0.1879	.	16	P33151	CADH5_HUMAN	S	16	ENSP00000344115:G16S	ENSP00000344115:G16S	G	+	1	0	CDH5	64970787	0.106000	0.21978	0.615000	0.29064	0.807000	0.45602	0.651000	0.24873	-0.133000	0.11537	0.462000	0.41574	GGC		0.627	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		23	59	0	0	0	1	0	23	59				
IGLC2	3538	broad.mit.edu	37	22	23243367	23243367	+	RNA	SNP	T	T	C	rs8033		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:23243367T>C	ENST00000390323.2	+	0	212				IGLJ2_ENST00000390322.2_RNA			P0CG05	LAC2_HUMAN	immunoglobulin lambda constant 2 (Kern-Oz- marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CCAGCAGCTATCTGAGCCTGA	0.587																																						ENST00000390323.2																			0																				76.0	81.0	79.0					22																	23243367		2072	4132	6204			0							g.chr22:23243367T>C	J00253		22q11.2	2012-02-08			ENSG00000211677	ENSG00000211677		"""Immunoglobulins / IGL locus"""	5856	other	immunoglobulin gene				IGLC			Standard	NG_000002		Approved			P0CG05	OTTHUMG00000151214		22.37:g.23243367T>C														0	212	+								A0M8Q4|P80423	RNA	SNP	ENST00000390323.2	37																																																																																						0.587	IGLC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000321818.3	NG_000002		5	43	0	0	0	1	0	5	43				
TIMELESS	8914	broad.mit.edu	37	12	56815747	56815747	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:56815747G>A	ENST00000553532.1	-	21	2728	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C	TIMELESS_ENST00000229201.4_Missense_Mutation_p.R859C|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R357C					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						ATCTGCTTGCGTGTTCGAGGA	0.542																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(2575-2577)Cgc>Tgc		timeless circadian clock							141.0	125.0	130.0					12																	56815747		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56815747G>A	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2578C>T	12.37:g.56815747G>A	ENSP00000450607:p.Arg860Cys					TIMELESS_ENST00000553532.1_Missense_Mutation_p.R860C|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R357C	p.R859C	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			21	2729	-			860						Missense_Mutation	SNP	ENST00000553532.1	37	c.2575C>T	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997439	0.74818	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.18960	2.18;2.18;2.18	5.19	4.28	0.50868	Timeless C-terminal (1);	0.290510	0.38720	N	0.001597	T	0.47507	0.1449	M	0.78456	2.415	0.41058	D	0.985353	D	0.89917	1.0	D	0.97110	1.0	T	0.54483	-0.8287	10	0.87932	D	0	-5.3212	14.1666	0.65480	0.0:0.0:0.8483:0.1516	.	860	Q9UNS1	TIM_HUMAN	C	859;860;357	ENSP00000229201:R859C;ENSP00000450607:R860C;ENSP00000450848:R357C	ENSP00000229201:R860C	R	-	1	0	TIMELESS	55102014	1.000000	0.71417	0.959000	0.39883	0.610000	0.37248	7.980000	0.88113	1.293000	0.44690	0.555000	0.69702	CGC		0.542	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		6	85	0	0	0	1	0	6	85				
LAMB1	3912	broad.mit.edu	37	7	107592541	107592541	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:107592541C>T	ENST00000222399.6	-	23	3437	c.3207G>A	c.(3205-3207)gcG>gcA	p.A1069A	LAMB1_ENST00000393561.1_Silent_p.A1093A	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1069	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AGGTATTGGGCGCACAGCGGT	0.572																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(3277-3279)gcG>gcA		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						67.0	50.0	56.0					7																	107592541		2203	4300	6503	SO:0001819	synonymous_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107592541C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3207G>A	7.37:g.107592541C>T						LAMB1_ENST00000222399.6_Silent_p.A1069A	p.A1093A			P07942	LAMB1_HUMAN			21	3463	-			1069			Laminin EGF-like 12.		Q14D91	Silent	SNP	ENST00000222399.6	37	c.3279G>A	CCDS5750.1																																																																																				0.572	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		3	11	0	0	0	1	0	3	11				
BMS1	9790	broad.mit.edu	37	10	43285947	43285947	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:43285947G>A	ENST00000374518.5	+	5	687	c.624G>A	c.(622-624)acG>acA	p.T208T		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	208	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTTCTGGACGGAAGTTTACC	0.413																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(622-624)acG>acA		BMS1 ribosome biogenesis factor							73.0	73.0	73.0					10																	43285947		2203	4299	6502	SO:0001819	synonymous_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43285947G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.624G>A	10.37:g.43285947G>A							p.T208T	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			5	687	+			208					Q5QPT5|Q86XJ9	Silent	SNP	ENST00000374518.5	37	c.624G>A	CCDS7199.1																																																																																				0.413	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		24	50	0	0	0	1	0	24	50				
NCSTN	23385	broad.mit.edu	37	1	160314573	160314573	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:160314573C>A	ENST00000294785.5	+	2	272	c.147C>A	c.(145-147)ccC>ccA	p.P49P	COPA_ENST00000241704.7_5'Flank|COPA_ENST00000368069.3_5'Flank|NCSTN_ENST00000535857.1_Silent_p.P49P|NCSTN_ENST00000392212.4_Silent_p.P29P|NCSTN_ENST00000368063.1_Silent_p.P29P	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	49					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAACAGCTCCCTGTGTTCGCC	0.428																																						ENST00000368063.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34						c.(85-87)ccC>ccA		nicastrin							94.0	83.0	87.0					1																	160314573		2203	4300	6503	SO:0001819	synonymous_variant	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160314573C>A	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.147C>A	1.37:g.160314573C>A						NCSTN_ENST00000535857.1_Silent_p.P49P|NCSTN_ENST00000294785.5_Silent_p.P49P|NCSTN_ENST00000392212.4_Silent_p.P29P	p.P29P			Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	367	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		49					Q5T207|Q5T208|Q86VV5	Silent	SNP	ENST00000294785.5	37	c.87C>A	CCDS1203.1																																																																																				0.428	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		4	23	1	0	0.00024832	1	0.000253761	4	23				
FBXL22	283807	broad.mit.edu	37	15	63889730	63889730	+	Missense_Mutation	SNP	G	G	A	rs546862368		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:63889730G>A	ENST00000360587.2	+	1	179	c.139G>A	c.(139-141)Gca>Aca	p.A47T	USP3-AS1_ENST00000558831.1_RNA|FBXL22_ENST00000534939.1_Missense_Mutation_p.A47T|USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000560622.1_RNA|FBXL22_ENST00000539570.3_Missense_Mutation_p.A41T|USP3-AS1_ENST00000561191.1_RNA|USP3-AS1_ENST00000559737.1_RNA	NM_203373.2	NP_976307.2	Q6P050	FXL22_HUMAN	F-box and leucine-rich repeat protein 22	47	F-box.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(4)	4						TGAGGACCCCGCACTCTGGTC	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19501	0.0		0.0	False		,,,				2504	0.0					ENST00000360587.2																			0				lung(4)	4						c.(139-141)Gca>Aca		F-box and leucine-rich repeat protein 22							66.0	57.0	60.0					15																	63889730		2203	4300	6503	SO:0001583	missense	283807							g.chr15:63889730G>A	BC065833	CCDS10187.1, CCDS10187.2	15q22.1	2012-04-05			ENSG00000197361	ENSG00000197361		"""F-boxes / Leucine-rich repeats"""	27537	protein-coding gene	gene with protein product		609088				12477932	Standard	NM_203373		Approved	Fbl22, FLJ39626	uc002amn.4	Q6P050	OTTHUMG00000132905	ENST00000360587.2:c.139G>A	15.37:g.63889730G>A	ENSP00000353794:p.Ala47Thr					FBXL22_ENST00000539570.3_Missense_Mutation_p.A41T|FBXL22_ENST00000534939.1_Missense_Mutation_p.A47T|USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000561191.1_RNA|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000560622.1_RNA|USP3-AS1_ENST00000558831.1_RNA	p.A47T	NM_203373.2	NP_976307.2	Q6P050	FXL22_HUMAN			1	179	+			41						Missense_Mutation	SNP	ENST00000360587.2	37	c.139G>A	CCDS10187.2	.	.	.	.	.	.	.	.	.	.	G	4.382	0.070510	0.08436	.	.	ENSG00000197361	ENST00000360587;ENST00000539570	T;T	0.34072	1.38;1.38	5.39	-3.62	0.04543	F-box domain, Skp2-like (1);	1.328010	0.04707	N	0.416865	T	0.12475	0.0303	N	0.02539	-0.55	0.09310	N	1	B	0.25169	0.119	B	0.15484	0.013	T	0.13442	-1.0509	10	0.34782	T	0.22	-10.1051	3.3137	0.07026	0.3695:0.0799:0.4133:0.1373	.	41	Q6P050	FXL22_HUMAN	T	47;41	ENSP00000353794:A47T;ENSP00000442112:A41T	ENSP00000353794:A47T	A	+	1	0	FBXL22	61676783	0.000000	0.05858	0.000000	0.03702	0.294000	0.27393	-0.411000	0.07142	-0.241000	0.09681	-1.008000	0.02478	GCA		0.622	FBXL22-001	KNOWN	downstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256412.4	NM_203373		6	19	0	0	0	1	0	6	19				
CNPY2	10330	broad.mit.edu	37	12	56705008	56705008	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:56705008G>T	ENST00000273308.4	-	4	935	c.395C>A	c.(394-396)aCc>aAc	p.T132N	RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.12_ENST00000546789.1_RNA|CNPY2_ENST00000551720.1_5'Flank|RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.T132N	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	132	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						AAACTTGAGGGTGCCGCTAAT	0.493																																						ENST00000273308.4																			0				large_intestine(2)|lung(2)	4						c.(394-396)aCc>aAc		canopy FGF signaling regulator 2							217.0	207.0	211.0					12																	56705008		2203	4300	6503	SO:0001583	missense	10330					endoplasmic reticulum|integral to plasma membrane	protein binding	g.chr12:56705008G>T	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.395C>A	12.37:g.56705008G>T	ENSP00000273308:p.Thr132Asn					RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.T132N|RP11-977G19.11_ENST00000549860.1_RNA	p.T132N	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN			4	935	-			132			Saposin B-type.		B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	c.395C>A	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359380	0.41801	.	.	ENSG00000144785;ENSG00000257727;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000273308;ENST00000551475;ENST00000551286	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.29	4.34	0.51931	Saposin B (1);	0.099888	0.64402	D	0.000003	T	0.14313	0.0346	N	0.03608	-0.345	0.43099	D	0.994789	B	0.06786	0.001	B	0.04013	0.001	T	0.14254	-1.0479	10	0.20519	T	0.43	-14.9753	7.2035	0.25895	0.0965:0.2619:0.6416:0.0	.	132	Q9Y2B0	CNPY2_HUMAN	N	132;132;132;80	ENSP00000446743:T132N;ENSP00000273308:T132N;ENSP00000448809:T132N;ENSP00000446784:T80N	ENSP00000273308:T132N	T	-	2	0	RP11-977G19.10;CNPY2	54991275	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.001000	0.49488	2.648000	0.89879	0.561000	0.74099	ACC		0.493	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		51	90	1	0	1.00221e-16	1	1.08697e-16	51	90				
PCDHA12	56137	broad.mit.edu	37	5	140256668	140256668	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140256668G>A	ENST00000398631.2	+	1	1611	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCCG	0.687																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1609-1611)gcG>gcA									75.0	84.0	81.0					5																	140256668		2203	4298	6501	SO:0001819	synonymous_variant	0							g.chr5:140256668G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1611G>A	5.37:g.140256668G>A						PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	p.A537A	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1611	+								O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1611G>A	CCDS47285.1																																																																																				0.687	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		50	97	0	0	0	1	0	50	97				
TYW1B	441250	broad.mit.edu	37	7	72040605	72040605	+	RNA	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:72040605C>T	ENST00000435769.2	-	0	2008				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TAATCCTTTGCGCTGAACGTT	0.428																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							105.0	94.0	97.0					7																	72040605		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72040605C>T	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72040605C>T										Q6NUM6	TYW1B_HUMAN			0	1399	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.428	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		15	28	0	0	0	1	0	15	28				
C19orf44	84167	broad.mit.edu	37	19	16625316	16625316	+	Missense_Mutation	SNP	G	G	A	rs111870653		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:16625316G>A	ENST00000221671.3	+	7	1900	c.1744G>A	c.(1744-1746)Gct>Act	p.A582T	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.A550T	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	582										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						AGCCCTGACCGCTTACAGCCC	0.672																																						ENST00000221671.3																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(1744-1746)Gct>Act		chromosome 19 open reading frame 44							20.0	21.0	20.0					19																	16625316		2203	4290	6493	SO:0001583	missense	84167							g.chr19:16625316G>A	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1744G>A	19.37:g.16625316G>A	ENSP00000221671:p.Ala582Thr					C19orf44_ENST00000594035.1_Missense_Mutation_p.A550T|CTD-3222D19.2_ENST00000409035.1_Intron	p.A582T	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN			7	1900	+			582					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.1744G>A	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497721	0.44455	.	.	ENSG00000105072	ENST00000221671	.	.	.	5.23	5.23	0.72850	.	0.155218	0.45606	D	0.000355	T	0.70631	0.3246	L	0.58428	1.81	0.36056	D	0.841098	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78076	-0.2345	9	0.87932	D	0	-24.1768	11.3003	0.49302	0.0831:0.0:0.9168:0.0	.	582;255	Q9H6X5;B4DN63	CS044_HUMAN;.	T	582	.	ENSP00000221671:A582T	A	+	1	0	C19orf44	16486316	0.999000	0.42202	0.981000	0.43875	0.209000	0.24338	3.387000	0.52501	2.449000	0.82847	0.561000	0.74099	GCT		0.672	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		4	12	0	0	0	1	0	4	12				
RPUSD1	113000	broad.mit.edu	37	16	836359	836359	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:836359C>A	ENST00000561734.1	-	5	773	c.530G>T	c.(529-531)cGc>cTc	p.R177L	MSLNL_ENST00000442466.1_5'Flank|RPUSD1_ENST00000567114.1_Missense_Mutation_p.R48L|RPUSD1_ENST00000565809.1_3'UTR|CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000262315.9_5'Flank|CHTF18_ENST00000455171.2_5'Flank|RPUSD1_ENST00000007264.2_Missense_Mutation_p.R177L			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	177					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GCAGTGCACGCGCAGCTGGTG	0.687																																						ENST00000561734.1																			0				endometrium(3)|lung(2)|skin(2)	7						c.(529-531)cGc>cTc		RNA pseudouridylate synthase domain containing 1							35.0	39.0	37.0					16																	836359		2199	4297	6496	SO:0001583	missense	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:836359C>A	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"""RNA pseudouridylate synthase domain containing"""	14173	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 40"""	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.530G>T	16.37:g.836359C>A	ENSP00000455026:p.Arg177Leu					RPUSD1_ENST00000567114.1_Missense_Mutation_p.R48L|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000007264.2_Missense_Mutation_p.R177L	p.R177L			Q9UJJ7	RUSD1_HUMAN			5	773	-		Hepatocellular(780;0.00335)	177					D3DU66	Missense_Mutation	SNP	ENST00000561734.1	37	c.530G>T	CCDS10426.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995733	0.74703	.	.	ENSG00000007376	ENST00000007264	T	0.56103	0.48	3.88	3.88	0.44766	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82926	0.5143	H	0.98738	4.315	0.53688	D	0.999974	D	0.89917	1.0	D	0.97110	1.0	D	0.90064	0.4158	10	0.87932	D	0	-26.7718	14.6252	0.68616	0.0:1.0:0.0:0.0	.	177	Q9UJJ7	RUSD1_HUMAN	L	177	ENSP00000007264:R177L	ENSP00000007264:R177L	R	-	2	0	RPUSD1	776360	1.000000	0.71417	0.807000	0.32361	0.535000	0.34838	5.828000	0.69307	2.028000	0.59812	0.456000	0.33151	CGC		0.687	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		6	55	1	0	0.0293803	1	0.0294953	6	55				
OGFOD3	79701	broad.mit.edu	37	17	80356123	80356123	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:80356123G>A	ENST00000313056.5	-	8	923	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	OGFOD3_ENST00000329197.5_Missense_Mutation_p.R258W|RP13-20L14.4_ENST00000579188.1_RNA	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	258	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)										AACATGAACCGCCCTCCGCCG	0.667																																						ENST00000313056.5																			0											c.(772-774)Cgg>Tgg		2-oxoglutarate and iron-dependent oxygenase domain containing 3							61.0	57.0	58.0					17																	80356123		2203	4300	6503	SO:0001583	missense	79701							g.chr17:80356123G>A	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 101"""	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.772C>T	17.37:g.80356123G>A	ENSP00000320116:p.Arg258Trp					OGFOD3_ENST00000329197.5_Missense_Mutation_p.R258W	p.R258W	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3					8	923	-								C9JDC8|Q8IZ37|Q9H6J2	Missense_Mutation	SNP	ENST00000313056.5	37	c.772C>T	CCDS11811.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008180	0.75046	.	.	ENSG00000181396	ENST00000313056;ENST00000329197	T;T	0.59906	0.23;1.16	4.18	2.0	0.26442	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.64402	D	0.000002	T	0.76828	0.4042	M	0.88570	2.965	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80489	-0.1360	10	0.87932	D	0	-21.9049	11.4093	0.49917	0.0:0.0:0.6555:0.3445	.	258;258	Q6PK18;Q6PK18-2	CQ101_HUMAN;.	W	258	ENSP00000320116:R258W;ENSP00000330075:R258W	ENSP00000320116:R258W	R	-	1	2	C17orf101	77949412	0.991000	0.36638	0.828000	0.32881	0.907000	0.53573	1.828000	0.39111	0.901000	0.36495	0.491000	0.48974	CGG		0.667	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1	NM_175902		12	21	0	0	0	1	0	12	21				
EPB41L5	57669	broad.mit.edu	37	2	120776691	120776691	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:120776691C>T	ENST00000263713.5	+	2	245	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C	EPB41L5_ENST00000443902.2_Missense_Mutation_p.R11C|EPB41L5_ENST00000452780.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.R11C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	11					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AACACTAGGGCGTCGGTCTAT	0.453																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(31-33)Cgt>Tgt		erythrocyte membrane protein band 4.1 like 5							199.0	195.0	196.0					2																	120776691		2203	4300	6503	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120776691C>T	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.31C>T	2.37:g.120776691C>T	ENSP00000263713:p.Arg11Cys					EPB41L5_ENST00000443124.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000443902.2_Missense_Mutation_p.R11C|EPB41L5_ENST00000452780.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.R11C	p.R11C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN			2	245	+			11					Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.31C>T	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560637	0.65538	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	D;D;D;D;D	0.85861	-2.01;-2.04;-1.96;-1.96;-2.01	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000001	D	0.89114	0.6623	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.984;1.0	D	0.90415	0.4412	10	0.87932	D	0	.	18.9431	0.92611	0.0:1.0:0.0:0.0	.	11;11;11	Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;E41L5_HUMAN	C	11	ENSP00000263713:R11C;ENSP00000393856:R11C;ENSP00000329687:R11C;ENSP00000393722:R11C;ENSP00000390439:R11C	ENSP00000263713:R11C	R	+	1	0	EPB41L5	120493161	1.000000	0.71417	0.895000	0.35142	0.583000	0.36354	4.351000	0.59398	2.552000	0.86080	0.650000	0.86243	CGT		0.453	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		10	124	0	0	0	1	0	10	124				
NANP	140838	broad.mit.edu	37	20	25596622	25596622	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:25596622G>A	ENST00000304788.3	-	2	912	c.686C>T	c.(685-687)tCt>tTt	p.S229F		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	229					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate biosynthetic process (GO:0046380)		N-acylneuraminate-9-phosphatase activity (GO:0050124)			endometrium(2)|lung(2)|prostate(1)	5						CTCTAGCACAGAAGAAACCAT	0.408																																						ENST00000304788.3																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(685-687)tCt>tTt		N-acetylneuraminic acid phosphatase							106.0	97.0	100.0					20																	25596622		2203	4300	6503	SO:0001583	missense	140838				N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity	g.chr20:25596622G>A	AL031673	CCDS13173.1	20p11.1	2006-10-24	2006-01-24	2006-01-24	ENSG00000170191	ENSG00000170191			16140	protein-coding gene	gene with protein product		610763	"""chromosome 20 open reading frame 147"", ""haloacid dehalogenase-like hydrolase domain containing 4"""	C20orf147, HDHD4		16237198	Standard	NM_152667		Approved	dJ694B14.3, MGC26833	uc002wuy.3	Q8TBE9	OTTHUMG00000032132	ENST00000304788.3:c.686C>T	20.37:g.25596622G>A	ENSP00000302441:p.Ser229Phe						p.S229F	NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN			2	912	-			229					B3KP12|Q5JYN8|Q8TE97|Q9Y3N0	Missense_Mutation	SNP	ENST00000304788.3	37	c.686C>T	CCDS13173.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190721	0.78789	.	.	ENSG00000170191	ENST00000304788	T	0.52983	0.64	5.34	5.34	0.76211	HAD-like domain (2);	0.160556	0.56097	D	0.000026	T	0.59702	0.2213	L	0.36672	1.1	0.51012	D	0.999907	D	0.89917	1.0	D	0.71414	0.973	T	0.62590	-0.6822	10	0.87932	D	0	-18.3111	16.5938	0.84789	0.0:0.0:1.0:0.0	.	229	Q8TBE9	NANP_HUMAN	F	229	ENSP00000302441:S229F	ENSP00000302441:S229F	S	-	2	0	NANP	25544622	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	6.687000	0.74552	2.511000	0.84671	0.485000	0.47835	TCT		0.408	NANP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078457.2	NM_152667		14	63	0	0	0	1	0	14	63				
DNAH6	1768	broad.mit.edu	37	2	84800604	84800604	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:84800604C>T	ENST00000237449.6	+	11	1825	c.1817C>T	c.(1816-1818)gCc>gTc	p.A606V	DNAH6_ENST00000398278.2_Missense_Mutation_p.A606V|DNAH6_ENST00000389394.3_Missense_Mutation_p.A606V			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	606	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ACCATTCAGGCCGCATTTGAA	0.328																																						ENST00000389394.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(1816-1818)gCc>gTc		dynein, axonemal, heavy chain 6							82.0	85.0	84.0					2																	84800604		2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84800604C>T	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1817C>T	2.37:g.84800604C>T	ENSP00000237449:p.Ala606Val					DNAH6_ENST00000398278.2_Missense_Mutation_p.A606V|DNAH6_ENST00000237449.6_Missense_Mutation_p.A606V	p.A606V	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			12	1954	+			606			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.1817C>T	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	C	1.990	-0.432042	0.04669	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.25250	1.81;1.94;1.81	4.95	4.04	0.47022	.	0.461095	0.18150	N	0.150133	T	0.19967	0.0480	L	0.44542	1.39	0.25269	N	0.989534	B;B	0.30973	0.005;0.302	B;B	0.27500	0.004;0.08	T	0.13656	-1.0501	10	0.17369	T	0.5	.	11.28	0.49188	0.3315:0.6685:0.0:0.0	.	606;185	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	V	606	ENSP00000374045:A606V;ENSP00000381326:A606V;ENSP00000237449:A606V	ENSP00000237449:A606V	A	+	2	0	DNAH6	84654115	0.993000	0.37304	0.995000	0.50966	0.071000	0.16799	1.931000	0.40134	1.006000	0.39211	0.491000	0.48974	GCC		0.328	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		8	54	0	0	0	1	0	8	54				
PDCL3	79031	broad.mit.edu	37	2	101183001	101183001	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:101183001C>T	ENST00000264254.6	+	2	421	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	15					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TGACATCTTACGCAAAAAGGG	0.517																																						ENST00000264254.6																			0				endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						c.(43-45)Cgc>Tgc		phosducin-like 3							89.0	81.0	84.0					2																	101183001		2203	4300	6503	SO:0001583	missense	79031				apoptosis|interspecies interaction between organisms	cytoplasm	protein binding	g.chr2:101183001C>T	AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.43C>T	2.37:g.101183001C>T	ENSP00000264254:p.Arg15Cys						p.R15C	NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN			2	421	+			15					B2RA00|Q53S68	Missense_Mutation	SNP	ENST00000264254.6	37	c.43C>T	CCDS33261.1	.	.	.	.	.	.	.	.	.	.	.	21.2	4.113984	0.77210	.	.	ENSG00000115539	ENST00000264254	T	0.15718	2.4	4.61	4.61	0.57282	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	H	0.94183	3.505	0.80722	D	1	D	0.65815	0.995	P	0.53102	0.718	T	0.66976	-0.5787	10	0.87932	D	0	-2.0956	17.4392	0.87561	0.0:1.0:0.0:0.0	.	15	Q9H2J4	PDCL3_HUMAN	C	15	ENSP00000264254:R15C	ENSP00000264254:R15C	R	+	1	0	PDCL3	100549433	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.965000	0.56788	2.128000	0.65567	0.442000	0.29010	CGC		0.517	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1	NM_024065		8	58	0	0	0	1	0	8	58				
AKAP1	8165	broad.mit.edu	37	17	55183676	55183676	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:55183676C>T	ENST00000337714.3	+	2	1084	c.851C>T	c.(850-852)gCg>gTg	p.A284V	AKAP1_ENST00000572557.1_Missense_Mutation_p.A284V|AKAP1_ENST00000314126.3_Missense_Mutation_p.A284V|AKAP1_ENST00000539273.1_Missense_Mutation_p.A284V|AKAP1_ENST00000571629.1_Missense_Mutation_p.A284V	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	284					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AAGGACGATGCGGCGCCAGCA	0.582																																						ENST00000337714.3																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(850-852)gCg>gTg		A kinase (PRKA) anchor protein 1							92.0	92.0	92.0					17																	55183676		2203	4300	6503	SO:0001583	missense	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55183676C>T	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.851C>T	17.37:g.55183676C>T	ENSP00000337736:p.Ala284Val					AKAP1_ENST00000571629.1_Missense_Mutation_p.A284V|AKAP1_ENST00000314126.3_Missense_Mutation_p.A284V|AKAP1_ENST00000572557.1_Missense_Mutation_p.A284V|AKAP1_ENST00000539273.1_Missense_Mutation_p.A284V	p.A284V	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN			2	1084	+	Breast(9;5.46e-08)		284					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	c.851C>T	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	c	11.15	1.554035	0.27739	.	.	ENSG00000121057	ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273	T;T;T	0.18338	2.5;2.22;2.5	5.18	0.0441	0.14224	.	0.750628	0.13203	N	0.405776	T	0.05410	0.0143	N	0.08118	0	0.09310	N	1	P	0.37158	0.585	B	0.27262	0.078	T	0.30995	-0.9959	10	0.31617	T	0.26	-8.3841	2.9972	0.06002	0.5127:0.2817:0.0748:0.1308	.	284	Q92667	AKAP1_HUMAN	V	284;284;326;284	ENSP00000337736:A284V;ENSP00000314075:A284V;ENSP00000443139:A284V	ENSP00000314075:A284V	A	+	2	0	AKAP1	52538675	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.078000	0.30754	-0.296000	0.08947	-1.612000	0.00800	GCG		0.582	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			16	71	0	0	0	1	0	16	71				
RFC1	5981	broad.mit.edu	37	4	39301676	39301676	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:39301676G>A	ENST00000381897.1	-	21	2909	c.2776C>T	c.(2776-2778)Cgg>Tgg	p.R926W	RNU6-32P_ENST00000383948.1_RNA|RFC1_ENST00000349703.2_Missense_Mutation_p.R925W	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	926					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGCTTACTCCGGATCTGGCTG	0.493																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(2776-2778)Cgg>Tgg		replication factor C (activator 1) 1, 145kDa							92.0	87.0	89.0					4																	39301676		2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39301676G>A	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2776C>T	4.37:g.39301676G>A	ENSP00000371321:p.Arg926Trp					RFC1_ENST00000349703.2_Missense_Mutation_p.R925W	p.R926W	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			21	2909	-			926					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.2776C>T	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	G	35	5.444092	0.96187	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.51574	0.7;0.7	6.01	6.01	0.97437	DNA replication factor RFC1, C-terminal (1);DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78916	0.4359	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.83121	-0.0118	10	0.87932	D	0	-11.8897	20.5109	0.99210	0.0:0.0:1.0:0.0	.	926;925	P35251;P35251-2	RFC1_HUMAN;.	W	926;925	ENSP00000371321:R926W;ENSP00000261424:R925W	ENSP00000261424:R925W	R	-	1	2	RFC1	38978071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.969000	0.87988	2.851000	0.98039	0.609000	0.83330	CGG		0.493	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		5	41	0	0	0	1	0	5	41				
SENP7	57337	broad.mit.edu	37	3	101060605	101060605	+	Missense_Mutation	SNP	C	C	T	rs151073689		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:101060605C>T	ENST00000394095.2	-	15	2178	c.2125G>A	c.(2125-2127)Gcc>Acc	p.A709T	SENP7_ENST00000394094.2_Missense_Mutation_p.A644T|SENP7_ENST00000314261.7_Missense_Mutation_p.A643T|SENP7_ENST00000348610.3_Missense_Mutation_p.A676T|SENP7_ENST00000394091.1_Missense_Mutation_p.A545T|SENP7_ENST00000358203.3_Missense_Mutation_p.A545T	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	709						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTAGGCTTGGCCGCATCTGTG	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		17888	0.001		0.0	False		,,,				2504	0.0					ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2125-2127)Gcc>Acc		SUMO1/sentrin specific peptidase 7							96.0	81.0	86.0					3																	101060605		2203	4300	6503	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101060605C>T		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2125G>A	3.37:g.101060605C>T	ENSP00000377655:p.Ala709Thr					SENP7_ENST00000358203.3_Missense_Mutation_p.A545T|SENP7_ENST00000348610.3_Missense_Mutation_p.A676T|SENP7_ENST00000394094.2_Missense_Mutation_p.A644T|SENP7_ENST00000314261.7_Missense_Mutation_p.A643T|SENP7_ENST00000394091.1_Missense_Mutation_p.A545T	p.A709T	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			15	2178	-			709					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.2125G>A	CCDS2941.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.262	0.811423	0.16537	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.18810	2.2;2.21;2.2;2.21;2.21;2.19	5.76	-1.56	0.08532	.	0.728673	0.12241	N	0.486464	T	0.06325	0.0163	N	0.02539	-0.55	0.09310	N	1	B;B;B;B	0.16603	0.018;0.015;0.015;0.004	B;B;B;B	0.20955	0.015;0.015;0.032;0.007	T	0.38090	-0.9677	10	0.21540	T	0.41	1.5995	3.9055	0.09180	0.1041:0.4955:0.1024:0.298	.	545;643;676;709	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	T	709;644;643;545;545;676	ENSP00000377655:A709T;ENSP00000377654:A644T;ENSP00000313624:A643T;ENSP00000377651:A545T;ENSP00000350936:A545T;ENSP00000342159:A676T	ENSP00000313624:A643T	A	-	1	0	SENP7	102543295	0.002000	0.14202	0.008000	0.14137	0.059000	0.15707	-0.201000	0.09464	-0.158000	0.11040	-0.218000	0.12543	GCC		0.443	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		7	38	0	0	0	1	0	7	38				
SLC9A5	6553	broad.mit.edu	37	16	67300093	67300093	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:67300093C>T	ENST00000299798.11	+	15	2248	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	728					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GTGGCTCGTGCCACCAGTGAG	0.557																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2182-2184)gCc>gTc		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							84.0	98.0	93.0					16																	67300093		2064	4191	6255	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67300093C>T		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2183C>T	16.37:g.67300093C>T	ENSP00000299798:p.Ala728Val						p.A728V	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	15	2248	+		Ovarian(137;0.0563)	728					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.2183C>T	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353085	0.41700	.	.	ENSG00000135740	ENST00000299798;ENST00000360183	T	0.56103	0.48	4.79	4.79	0.61399	.	0.636367	0.14804	N	0.297478	T	0.59676	0.2211	L	0.29908	0.895	0.34026	D	0.653214	D;P	0.71674	0.998;0.808	D;B	0.65684	0.937;0.227	T	0.61950	-0.6957	10	0.21014	T	0.42	.	16.8029	0.85618	0.0:1.0:0.0:0.0	.	241;728	F8WDV9;Q14940	.;SL9A5_HUMAN	V	728;241	ENSP00000299798:A728V	ENSP00000299798:A728V	A	+	2	0	SLC9A5	65857594	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.617000	0.67716	2.201000	0.70794	0.563000	0.77884	GCC		0.557	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			7	14	0	0	0	1	0	7	14				
AP2A1	160	broad.mit.edu	37	19	50302915	50302915	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:50302915G>T	ENST00000359032.5	+	10	1164	c.1164G>T	c.(1162-1164)cgG>cgT	p.R388R	AP2A1_ENST00000354293.5_Silent_p.R388R	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	388					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGCGGCAGCGGGCGGCTGACC	0.652																																						ENST00000354293.5																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19						c.(1162-1164)cgG>cgT		adaptor-related protein complex 2, alpha 1 subunit							62.0	68.0	66.0					19																	50302915		2203	4300	6503	SO:0001819	synonymous_variant	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50302915G>T	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1164G>T	19.37:g.50302915G>T						AP2A1_ENST00000359032.5_Silent_p.R388R	p.R388R	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	10	1330	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	388					Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	ENST00000359032.5	37	c.1164G>T	CCDS46148.1																																																																																				0.652	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			5	56	1	0	0.014758	1	0.0148448	5	56				
ESPNP	284729	broad.mit.edu	37	1	17030590	17030590	+	RNA	SNP	G	G	A	rs590170	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:17030590G>A	ENST00000492551.1	-	0	745					NR_026567.1				espin pseudogene																		CGGCTGCTTCGCCTCCAGCTC	0.617																																						ENST00000492551.1																			0																																																			0							g.chr1:17030590G>A	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17030590G>A								NR_026567.1						0	745	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.617	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			3	26	0	0	0	1	0	3	26				
DZIP3	9666	broad.mit.edu	37	3	108363248	108363248	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:108363248C>T	ENST00000361582.3	+	14	1609	c.1379C>T	c.(1378-1380)cCg>cTg	p.P460L	DZIP3_ENST00000463306.1_Missense_Mutation_p.P460L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	460					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAGGAGTTACCGCAATCCAAA	0.418																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(1378-1380)cCg>cTg		DAZ interacting zinc finger protein 3							160.0	152.0	155.0					3																	108363248		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108363248C>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1379C>T	3.37:g.108363248C>T	ENSP00000355028:p.Pro460Leu					DZIP3_ENST00000463306.1_Missense_Mutation_p.P460L	p.P460L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			14	1609	+			460					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.1379C>T	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.440947	0.63067	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T	0.30981	1.51;1.51	4.39	4.39	0.52855	.	0.000000	0.52532	D	0.000075	T	0.47097	0.1427	L	0.46157	1.445	0.48975	D	0.999736	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.41928	-0.9481	10	0.87932	D	0	-9.6746	12.7679	0.57403	0.0:1.0:0.0:0.0	.	460;460	C9J9M8;Q86Y13	.;DZIP3_HUMAN	L	460	ENSP00000355028:P460L;ENSP00000419981:P460L	ENSP00000355028:P460L	P	+	2	0	DZIP3	109845938	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.708000	0.37899	2.724000	0.93272	0.655000	0.94253	CCG		0.418	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		31	129	0	0	0	1	0	31	129				
COL6A6	131873	broad.mit.edu	37	3	130286065	130286065	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:130286065A>T	ENST00000358511.6	+	4	1833	c.1802A>T	c.(1801-1803)gAc>gTc	p.D601V	COL6A6_ENST00000453409.2_Missense_Mutation_p.D601V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	601	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCATTGAAAGACATAAGAAAC	0.418																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1801-1803)gAc>gTc		collagen, type VI, alpha 6							48.0	48.0	48.0					3																	130286065		1931	4117	6048	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130286065A>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1802A>T	3.37:g.130286065A>T	ENSP00000351310:p.Asp601Val					COL6A6_ENST00000453409.2_Missense_Mutation_p.D601V	p.D601V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			4	1833	+			601			Nonhelical region.|VWFA 3.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.1802A>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.318571	0.40996	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.84146	-1.81;-1.81	5.51	4.35	0.52113	von Willebrand factor, type A (3);	0.287666	0.29948	N	0.010791	T	0.76737	0.4029	L	0.45581	1.43	0.44927	D	0.997942	B	0.19445	0.036	B	0.18871	0.023	T	0.69595	-0.5103	10	0.41790	T	0.15	.	3.1052	0.06339	0.6388:0.1451:0.0765:0.1396	.	601	A6NMZ7	CO6A6_HUMAN	V	601	ENSP00000351310:D601V;ENSP00000399236:D601V	ENSP00000351310:D601V	D	+	2	0	COL6A6	131768755	0.841000	0.29509	1.000000	0.80357	0.953000	0.61014	1.284000	0.33249	0.939000	0.37446	0.459000	0.35465	GAC		0.418	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		12	36	0	0	0	1	0	12	36				
CARS	833	broad.mit.edu	37	11	3028112	3028112	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:3028112C>T	ENST00000397111.5	-	18	2142	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	CARS_ENST00000470221.2_5'UTR|CARS_ENST00000278224.9_Missense_Mutation_p.E633K|CARS_ENST00000380525.4_Missense_Mutation_p.E716K|CARS_ENST00000397114.3_Missense_Mutation_p.E623K|CARS_ENST00000401769.3_Missense_Mutation_p.E646K			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	633					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CACCCACCTTCGTGGTCTTCA	0.582			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	ENST00000397114.3				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31						c.(1867-1869)Gaa>Aaa		cysteinyl-tRNA synthetase	L-Cysteine(DB00151)						177.0	170.0	173.0					11																	3028112		2202	4298	6500	SO:0001583	missense	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding	g.chr11:3028112C>T	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1897G>A	11.37:g.3028112C>T	ENSP00000380300:p.Glu633Lys					CARS_ENST00000470221.2_5'UTR|CARS_ENST00000278224.9_Missense_Mutation_p.E633K|CARS_ENST00000397111.5_Missense_Mutation_p.E633K|CARS_ENST00000401769.3_Missense_Mutation_p.E646K|CARS_ENST00000380525.4_Missense_Mutation_p.E716K	p.E623K			P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	19	2243	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	633					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	c.1867G>A	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970368	0.74246	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	4.42	4.42	0.53409	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.174005	0.50627	D	0.000114	T	0.37517	0.1006	M	0.75447	2.3	0.80722	D	1	B;B;P;P;B;P	0.49696	0.075;0.226;0.776;0.927;0.122;0.602	B;B;B;B;B;B	0.40864	0.018;0.042;0.14;0.342;0.047;0.062	T	0.36553	-0.9743	10	0.13853	T	0.58	.	15.3614	0.74478	0.0:1.0:0.0:0.0	.	646;716;633;633;716;623	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	K	716;633;633;623;646	ENSP00000369897:E716K;ENSP00000380300:E633K;ENSP00000278224:E633K;ENSP00000380303:E623K;ENSP00000384069:E646K	ENSP00000278224:E633K	E	-	1	0	CARS	2984688	1.000000	0.71417	0.979000	0.43373	0.904000	0.53231	6.621000	0.74228	2.280000	0.76307	0.462000	0.41574	GAA		0.582	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		7	136	0	0	0	1	0	7	136				
CTCFL	140690	broad.mit.edu	37	20	56099037	56099037	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:56099037G>A	ENST00000608263.1	-	1	886	c.225C>T	c.(223-225)agC>agT	p.S75S	CTCFL_ENST00000423479.3_Silent_p.S75S|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000608425.1_Silent_p.S75S|CTCFL_ENST00000608440.1_Silent_p.S75S|CTCFL_ENST00000429804.3_Silent_p.S75S|CTCFL_ENST00000432255.2_Silent_p.S75S|CTCFL_ENST00000608158.1_Silent_p.S75S|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000371196.2_Silent_p.S75S|CTCFL_ENST00000243914.3_Silent_p.S75S|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000609232.1_Silent_p.S75S|CTCFL_ENST00000422869.2_Silent_p.S75S|CTCFL_ENST00000481655.2_Silent_p.S75S	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	75					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TGTACTTCTCGCTCTCCTCCG	0.597																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(223-225)agC>agT		CCCTC-binding factor (zinc finger protein)-like							92.0	89.0	90.0					20																	56099037		2203	4299	6502	SO:0001819	synonymous_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099037G>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.225C>T	20.37:g.56099037G>A						CTCFL_ENST00000433949.2_Silent_p.S75S|CTCFL_ENST00000432255.2_Silent_p.S75S|CTCFL_ENST00000429804.2_Silent_p.S75S|CTCFL_ENST00000243914.3_Silent_p.S75S|CTCFL_ENST00000423479.2_Silent_p.S75S|CTCFL_ENST00000422869.2_Silent_p.S75S|CTCFL_ENST00000422109.2_Silent_p.S75S|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000371196.2_Silent_p.S75S	p.S75S			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	886	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		75					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	37	c.225C>T	CCDS13459.1																																																																																				0.597	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		52	88	0	0	0	1	0	52	88				
CCDC8	83987	broad.mit.edu	37	19	46914607	46914607	+	Silent	SNP	C	C	T	rs34235823		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:46914607C>T	ENST00000307522.3	-	1	2234	c.1461G>A	c.(1459-1461)tcG>tcA	p.S487S		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	487					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TGCAAAACCACGAAAAGCGTC	0.627																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1459-1461)tcG>tcA		coiled-coil domain containing 8							58.0	61.0	60.0					19																	46914607		2203	4300	6503	SO:0001819	synonymous_variant	83987					plasma membrane		g.chr19:46914607C>T	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1461G>A	19.37:g.46914607C>T							p.S487S	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	2234	-			487					Q8TB26	Silent	SNP	ENST00000307522.3	37	c.1461G>A	CCDS12685.1																																																																																				0.627	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		4	52	0	0	0	1	0	4	52				
FOXP4	116113	broad.mit.edu	37	6	41555240	41555240	+	Missense_Mutation	SNP	C	C	T	rs142575732	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:41555240C>T	ENST00000307972.4	+	6	874	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	FOXP4_ENST00000409208.1_Missense_Mutation_p.R288W|FOXP4_ENST00000373060.1_Missense_Mutation_p.R288W|FOXP4_ENST00000373057.3_Missense_Mutation_p.R286W|FOXP4_ENST00000373063.3_Missense_Mutation_p.R287W			Q8IVH2	FOXP4_HUMAN	forkhead box P4	288					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCTCACATCTCGGAGAGACAG	0.672											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000373060.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16						c.(862-864)Cgg>Tgg		forkhead box P4		C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	51.0	56.0	54.0		862,856,859	4.0	1.0	6	dbSNP_134	54	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense,missense	FOXP4	NM_001012426.1,NM_001012427.1,NM_138457.2	101,101,101	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	probably-damaging,probably-damaging,probably-damaging	288/681,286/679,287/668	41555240	7,12999	2203	4300	6503	SO:0001583	missense	116113				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr6:41555240C>T	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"""Forkhead boxes"""	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.862C>T	6.37:g.41555240C>T	ENSP00000309823:p.Arg288Trp		OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	902	FOXP4_ENST00000373057.3_Missense_Mutation_p.R286W|FOXP4_ENST00000409208.1_Missense_Mutation_p.R288W|FOXP4_ENST00000373063.3_Missense_Mutation_p.R287W|FOXP4_ENST00000307972.4_Missense_Mutation_p.R288W	p.R288W	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN			7	1320	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		288					Q5W098|Q7Z7F8|Q8IW55|Q96E19	Missense_Mutation	SNP	ENST00000307972.4	37	c.862C>T	CCDS34447.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627328	0.28978	0.0	8.14E-4	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.83	3.95	0.45737	.	0.365524	0.23622	N	0.046224	T	0.48822	0.1521	M	0.70275	2.135	0.30705	N	0.749847	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.984;0.984;0.973	T	0.51332	-0.8719	10	0.87932	D	0	.	10.7983	0.46474	0.4287:0.5713:0.0:0.0	.	287;286;288	Q8IW55;Q7Z7F8;Q8IVH2	.;.;FOXP4_HUMAN	W	288;287;288;286;288	ENSP00000362151:R288W;ENSP00000362154:R287W;ENSP00000386958:R288W;ENSP00000362148:R286W;ENSP00000309823:R288W	ENSP00000309823:R288W	R	+	1	2	FOXP4	41663218	1.000000	0.71417	0.991000	0.47740	0.034000	0.12701	5.876000	0.69667	1.229000	0.43630	-0.282000	0.10007	CGG		0.672	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		6	51	0	0	0	1	0	6	51				
OR3A1	4994	broad.mit.edu	37	17	3195143	3195143	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:3195143C>T	ENST00000323404.1	-	1	733	c.734G>A	c.(733-735)gGc>gAc	p.G245D	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	245					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GAGGTGGGAGCCACATGTGGA	0.493																																					GBM(20;287 516 18743 28660 36594)	ENST00000323404.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(733-735)gGc>gAc		olfactory receptor, family 3, subfamily A, member 1							81.0	78.0	79.0					17																	3195143		2203	4300	6503	SO:0001583	missense	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195143C>T	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.734G>A	17.37:g.3195143C>T	ENSP00000313803:p.Gly245Asp					RP11-64J4.2_ENST00000573491.1_RNA	p.G245D	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN			1	733	-			245					Q4VB06|Q6IFM4	Missense_Mutation	SNP	ENST00000323404.1	37	c.734G>A	CCDS11023.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908397	0.33721	.	.	ENSG00000180090	ENST00000323404	T	0.37915	1.17	5.01	3.97	0.46021	GPCR, rhodopsin-like superfamily (1);	0.254805	0.28365	N	0.015604	T	0.50069	0.1594	M	0.89785	3.06	0.09310	N	1	P	0.45126	0.851	P	0.47603	0.551	T	0.54906	-0.8223	10	0.87932	D	0	-15.9494	7.7715	0.29010	0.2745:0.577:0.1485:0.0	.	245	P47881	OR3A1_HUMAN	D	245	ENSP00000313803:G245D	ENSP00000313803:G245D	G	-	2	0	OR3A1	3141893	0.000000	0.05858	0.988000	0.46212	0.223000	0.24884	0.110000	0.15437	2.753000	0.94483	0.650000	0.86243	GGC		0.493	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			23	53	0	0	0	1	0	23	53				
AHNAK	79026	broad.mit.edu	37	11	62301277	62301277	+	Silent	SNP	G	G	A	rs368779297		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:62301277G>A	ENST00000378024.4	-	5	886	c.612C>T	c.(610-612)acC>acT	p.T204T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	204					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCTGATCACGGTCTTCCCAG	0.542																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(610-612)acC>acT		AHNAK nucleoprotein		G	,	0,4404		0,0,2202	101.0	101.0	101.0		612,	-11.6	0.9	11		101	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,intron	AHNAK	NM_001620.1,NM_024060.2	,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,	204/5891,	62301277	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62301277G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.612C>T	11.37:g.62301277G>A						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.T204T	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	886	-		Melanoma(852;0.155)	204					A1A586	Silent	SNP	ENST00000378024.4	37	c.612C>T	CCDS31584.1																																																																																				0.542	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		15	49	0	0	0	1	0	15	49				
ESYT1	23344	broad.mit.edu	37	12	56532267	56532267	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:56532267G>A	ENST00000394048.5	+	22	2681	c.2417G>A	c.(2416-2418)cGg>cAg	p.R806Q	ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000541590.1_Missense_Mutation_p.R816Q|ESYT1_ENST00000267113.4_Missense_Mutation_p.R816Q	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	806	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TATATGGAGCGGGCAGAGGAC	0.587																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(2416-2418)cGg>cAg		extended synaptotagmin-like protein 1							29.0	30.0	30.0					12																	56532267		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56532267G>A	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2417G>A	12.37:g.56532267G>A	ENSP00000377612:p.Arg806Gln					ESYT1_ENST00000267113.4_Missense_Mutation_p.R816Q|ESYT1_ENST00000541590.1_Missense_Mutation_p.R816Q|ESYT1_ENST00000550878.1_3'UTR	p.R806Q	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			22	2681	+			806			C2 4.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.2417G>A	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053778	0.55218	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.69306	-0.39;-0.39;-0.39	5.38	4.47	0.54385	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.67144	0.2862	L	0.38953	1.18	0.46437	D	0.999044	B;D	0.76494	0.097;0.999	B;D	0.64144	0.012;0.922	T	0.62455	-0.6851	10	0.28530	T	0.3	-22.377	7.5469	0.27772	0.1781:0.0:0.8219:0.0	.	816;806	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	Q	806;760;816;816	ENSP00000377612:R806Q;ENSP00000267113:R816Q;ENSP00000445952:R816Q	ENSP00000267113:R816Q	R	+	2	0	ESYT1	54818534	0.999000	0.42202	0.998000	0.56505	0.749000	0.42624	3.395000	0.52558	2.682000	0.91365	0.561000	0.74099	CGG		0.587	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		4	21	0	0	0	1	0	4	21				
AFAP1	60312	broad.mit.edu	37	4	7788025	7788025	+	Missense_Mutation	SNP	G	G	A	rs115544900	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:7788025G>A	ENST00000360265.4	-	11	1660	c.1426C>T	c.(1426-1428)Cgt>Tgt	p.R476C	AFAP1_ENST00000420658.1_Missense_Mutation_p.R476C|AFAP1_ENST00000358461.2_Missense_Mutation_p.R476C|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Missense_Mutation_p.R476C			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	476						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GATATAACACGCCTGTTCATG	0.468																																						ENST00000420658.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.(1426-1428)Cgt>Tgt		actin filament associated protein 1							124.0	122.0	123.0					4																	7788025		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7788025G>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1426C>T	4.37:g.7788025G>A	ENSP00000353402:p.Arg476Cys					AFAP1_ENST00000360265.4_Missense_Mutation_p.R476C|AFAP1_ENST00000382543.3_Missense_Mutation_p.R476C|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Missense_Mutation_p.R476C	p.R476C	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN			12	1698	-			476					A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.1426C>T	CCDS3397.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	20.5	4.004245	0.74932	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.23147	2.26;1.92;2.26;1.92	5.27	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.51312	0.1667	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.56323	-0.7998	10	0.72032	D	0.01	-20.5832	13.1946	0.59730	0.0:0.0:0.7115:0.2885	.	476;476	E9PDT7;Q8N556	.;AFAP1_HUMAN	C	476	ENSP00000353402:R476C;ENSP00000410689:R476C;ENSP00000351245:R476C;ENSP00000371983:R476C	ENSP00000351245:R476C	R	-	1	0	AFAP1	7838925	1.000000	0.71417	0.989000	0.46669	0.903000	0.53119	4.651000	0.61447	1.195000	0.43115	0.650000	0.86243	CGT		0.468	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		6	95	0	0	0	1	0	6	95				
ISG15	9636	broad.mit.edu	37	1	949846	949846	+	Silent	SNP	C	C	T	rs190639525	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:949846C>T	ENST00000379389.4	+	2	637	c.486C>T	c.(484-486)ggC>ggT	p.G162G	RP11-54O7.11_ENST00000458555.1_RNA	NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	162					cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of interferon-gamma production (GO:0032649)|response to type I interferon (GO:0034340)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular region (GO:0005576)	protein tag (GO:0031386)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CAGAGCCTGGCGGGCGGAGCT	0.637													C|||	3	0.000599042	0.0008	0.0	5008	,	,		17006	0.002		0.0	False		,,,				2504	0.0					ENST00000379389.4																			0				endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(484-486)ggC>ggT		ISG15 ubiquitin-like modifier		C		0,4368		0,0,2184	24.0	27.0	26.0		486	-4.5	0.0	1		26	1,8549		0,1,4274	no	coding-synonymous	ISG15	NM_005101.3		0,1,6458	TT,TC,CC		0.0117,0.0,0.0077		162/166	949846	1,12917	2184	4275	6459	SO:0001819	synonymous_variant	9636				cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding	g.chr1:949846C>T	BC009507	CCDS6.1	1p36.33	2008-02-05	2006-04-28	2006-04-28	ENSG00000187608	ENSG00000187608			4053	protein-coding gene	gene with protein product		147571	"""interferon, alpha-inducible protein (clone IFI-15K)"""	G1P2		3087979	Standard	NM_005101		Approved	IFI15, UCRP	uc001acj.4	P05161	OTTHUMG00000040777	ENST00000379389.4:c.486C>T	1.37:g.949846C>T							p.G162G	NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	2	637	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	162					Q5SVA4|Q7Z2G2|Q96GF0	Silent	SNP	ENST00000379389.4	37	c.486C>T	CCDS6.1																																																																																				0.637	ISG15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097989.1	NM_005101		12	37	0	0	0	1	0	12	37				
MMAB	326625	broad.mit.edu	37	12	109998845	109998845	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:109998845C>T	ENST00000545712.2	-	7	977	c.584G>A	c.(583-585)cGt>cAt	p.R195H	MMAB_ENST00000540016.1_Splice_Site_p.R143H|MMAB_ENST00000266839.5_Splice_Site_p.R104H	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	195					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCCCTCTTACCGTCTCTCGGC	0.657																																						ENST00000545712.2																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6	GRCh37	CS061303	MMAB	S		c.e7+1		methylmalonic aciduria (cobalamin deficiency) cblB type	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						30.0	33.0	32.0					12																	109998845		2203	4298	6501	SO:0001630	splice_region_variant	326625				cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity	g.chr12:109998845C>T	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"""ATP:cob(I)alamin adenosyltransferase"", ""cilia and flagella associated protein 23"""	607568	"""methylmalonic aciduria (cobalamin deficiency) type B"""			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.584+1G>A	12.37:g.109998845C>T						MMAB_ENST00000266839.5_Splice_Site_p.R104_splice|MMAB_ENST00000540016.1_Splice_Site_p.R143_splice	p.R195_splice	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN			7	977	-			195					C5HU05|Q9BSH0	Splice_Site	SNP	ENST00000545712.2	37	c.584_splice	CCDS9131.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542639	0.65198	.	.	ENSG00000139428	ENST00000545712;ENST00000266839	D;D	0.95482	-3.72;-3.72	4.91	4.91	0.64330	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, PduO-type, N-terminal (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, EutT/PduO type (1);	0.378699	0.30285	N	0.009979	D	0.94062	0.8097	M	0.70275	2.135	0.45676	D	0.998598	P;P;P	0.51057	0.654;0.941;0.941	B;B;B	0.40506	0.12;0.18;0.331	D	0.93849	0.7143	9	.	.	.	-8.0484	15.4029	0.74855	0.0:1.0:0.0:0.0	.	104;195;195	B4DHP4;B2R6J3;Q96EY8	.;.;MMAB_HUMAN	H	195;104	ENSP00000445920:R195H;ENSP00000266839:R104H	.	R	-	2	0	MMAB	108483228	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	5.586000	0.67503	2.545000	0.85829	0.650000	0.86243	CGT		0.657	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2		Missense_Mutation	6	21	0	0	0	1	0	6	21				
RAB9A	9367	broad.mit.edu	37	X	13727114	13727114	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:13727114C>T	ENST00000464506.1	+	3	528	c.249C>T	c.(247-249)tgC>tgT	p.C83C	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	83					GTP catabolic process (GO:0006184)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CTGACTGCTGCCTGCTTACTT	0.438																																						ENST00000464506.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(247-249)tgC>tgT		RAB9A, member RAS oncogene family							144.0	137.0	140.0					X																	13727114		2203	4300	6503	SO:0001819	synonymous_variant	9367				protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chrX:13727114C>T	U44103	CCDS14156.1	Xp22.2	2010-04-19	2007-01-15	2007-01-15	ENSG00000123595	ENSG00000123595		"""RAB, member RAS oncogene"""	9792	protein-coding gene	gene with protein product		300284	"""RAB9, member RAS oncogene family"""	RAB9		9126495	Standard	NM_004251		Approved		uc010neh.3	P51151	OTTHUMG00000021156	ENST00000464506.1:c.249C>T	X.37:g.13727114C>T						RAB9A_ENST00000243325.5_3'UTR	p.C83C	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN			3	528	+			83					A8K390|Q6ICN1	Silent	SNP	ENST00000464506.1	37	c.249C>T	CCDS14156.1																																																																																				0.438	RAB9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055802.1	NM_004251		15	80	0	0	0	1	0	15	80				
RCVRN	5957	broad.mit.edu	37	17	9804388	9804388	+	Silent	SNP	G	G	A	rs534691469	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:9804388G>A	ENST00000226193.5	-	2	851	c.411C>T	c.(409-411)gaC>gaT	p.D137D	RCVRN_ENST00000570909.3_5'UTR	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	137					phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GGAGCTTCACGTCCTCGGGAG	0.453													G|||	4	0.000798722	0.0	0.0	5008	,	,		18963	0.0		0.0	False		,,,				2504	0.0041					ENST00000226193.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						c.(409-411)gaC>gaT		recoverin							98.0	93.0	95.0					17																	9804388		2203	4300	6503	SO:0001819	synonymous_variant	5957				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr17:9804388G>A	BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"""EF-hand domain containing"""	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.411C>T	17.37:g.9804388G>A						RCVRN_ENST00000570909.2_Silent_p.D6D	p.D137D	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN			2	851	-			137					Q53XL0	Silent	SNP	ENST00000226193.5	37	c.411C>T	CCDS11151.1																																																																																				0.453	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	NM_002903		12	24	0	0	0	1	0	12	24				
SNX4	8723	broad.mit.edu	37	3	125170172	125170172	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:125170172T>C	ENST00000251775.4	-	13	1306	c.1282A>G	c.(1282-1284)Atg>Gtg	p.M428V	SNX4_ENST00000536067.1_Missense_Mutation_p.M283V	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	428					endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						CTGATCTGCATGACTGCATAG	0.363																																						ENST00000251775.4																			0				breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						c.(1282-1284)Atg>Gtg		sorting nexin 4							187.0	185.0	186.0					3																	125170172		2203	4300	6503	SO:0001583	missense	8723				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding	g.chr3:125170172T>C	AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"""Sorting nexins"""	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.1282A>G	3.37:g.125170172T>C	ENSP00000251775:p.Met428Val					SNX4_ENST00000536067.1_Missense_Mutation_p.M283V	p.M428V	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN			13	1306	-			428					B3KMH0|B4DQV4|D3DNA3	Missense_Mutation	SNP	ENST00000251775.4	37	c.1282A>G	CCDS3032.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.726946	0.48833	.	.	ENSG00000114520	ENST00000251775;ENST00000536067	T;T	0.41758	0.99;2.05	5.0	5.0	0.66597	.	0.037575	0.85682	D	0.000000	T	0.38772	0.1053	L	0.56769	1.78	0.58432	D	0.999996	B	0.09022	0.002	B	0.06405	0.002	T	0.23368	-1.0190	10	0.14656	T	0.56	-19.4935	14.8662	0.70419	0.0:0.0:0.0:1.0	.	428	O95219	SNX4_HUMAN	V	428;283	ENSP00000251775:M428V;ENSP00000440824:M283V	ENSP00000251775:M428V	M	-	1	0	SNX4	126652862	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.150000	0.77403	2.095000	0.63458	0.477000	0.44152	ATG		0.363	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356299.1	NM_003794		19	138	0	0	0	1	0	19	138				
ICMT	23463	broad.mit.edu	37	1	6294999	6294999	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:6294999G>A	ENST00000343813.5	-	2	259	c.231C>T	c.(229-231)ttC>ttT	p.F77F	LINC00337_ENST00000429480.2_RNA|ICMT_ENST00000362035.3_Silent_p.F77F|LINC00337_ENST00000441724.1_RNA	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	77					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|positive regulation of cell proliferation (GO:0008284)|protein targeting to membrane (GO:0006612)|regulation of Ras protein signal transduction (GO:0046578)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cAMP response element binding protein binding (GO:0008140)|protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity (GO:0004671)			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TGCCGCAGCCGAACACAAACC	0.507																																						ENST00000343813.5																			0				NS(1)|endometrium(2)	3						c.(229-231)ttC>ttT		isoprenylcysteine carboxyl methyltransferase							99.0	101.0	100.0					1																	6294999		2203	4300	6503	SO:0001819	synonymous_variant	23463				protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity	g.chr1:6294999G>A	AF064084	CCDS61.1	1p36	2010-04-29			ENSG00000116237	ENSG00000116237	2.1.1.100		5350	protein-coding gene	gene with protein product	"""protein-S-isoprenylcysteine O-methyltransferase"""	605851				9614111, 10441503	Standard	XM_005263437		Approved	PCCMT, HSTE14, PPMT	uc001amk.3	O60725	OTTHUMG00000001254	ENST00000343813.5:c.231C>T	1.37:g.6294999G>A						ICMT_ENST00000362035.3_Silent_p.F77F	p.F77F	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	2	259	-	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	77					Q6FHT0	Silent	SNP	ENST00000343813.5	37	c.231C>T	CCDS61.1																																																																																				0.507	ICMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003681.1	NM_012405		19	42	0	0	0	1	0	19	42				
GPRIN3	285513	broad.mit.edu	37	4	90169157	90169157	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:90169157G>C	ENST00000609438.1	-	2	2623	c.2105C>G	c.(2104-2106)gCa>gGa	p.A702G	GPRIN3_ENST00000333209.4_Missense_Mutation_p.A702G	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	702										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CAGGGACTCTGCGTCCAAGGA	0.502																																						ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(2104-2106)gCa>gGa		GPRIN family member 3							72.0	69.0	70.0					4																	90169157		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90169157G>C	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.2105C>G	4.37:g.90169157G>C	ENSP00000476603:p.Ala702Gly						p.A702G	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	2623	-		Hepatocellular(203;0.114)	702					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.2105C>G	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659069	0.47467	.	.	ENSG00000185477	ENST00000333209	T	0.24538	1.85	5.12	5.12	0.69794	.	0.248643	0.21192	N	0.078633	T	0.18676	0.0448	N	0.14661	0.345	0.39830	D	0.972961	B	0.29805	0.257	B	0.25614	0.062	T	0.10245	-1.0638	10	0.59425	D	0.04	-8.5156	18.7493	0.91807	0.0:0.0:1.0:0.0	.	702	Q6ZVF9	GRIN3_HUMAN	G	702	ENSP00000328672:A702G	ENSP00000328672:A702G	A	-	2	0	GPRIN3	90388180	1.000000	0.71417	0.958000	0.39756	0.167000	0.22549	6.231000	0.72307	2.654000	0.90174	0.655000	0.94253	GCA		0.502	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		6	35	0	0	0	1	0	6	35				
PRG4	10216	broad.mit.edu	37	1	186280171	186280171	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:186280171T>C	ENST00000445192.2	+	9	3550	c.3505T>C	c.(3505-3507)Tat>Cat	p.Y1169H	PRG4_ENST00000367486.3_Missense_Mutation_p.Y1126H|PRG4_ENST00000367483.4_Missense_Mutation_p.Y1128H|PRG4_ENST00000367484.3_Missense_Mutation_p.Y698H|PRG4_ENST00000367485.4_Missense_Mutation_p.Y1076H|RNU6-1240P_ENST00000365155.1_RNA	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1169					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TTTAGGTCATTATTTCTGGAT	0.368																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(3505-3507)Tat>Cat		proteoglycan 4							128.0	123.0	125.0					1																	186280171		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186280171T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3505T>C	1.37:g.186280171T>C	ENSP00000399679:p.Tyr1169His					PRG4_ENST00000367485.4_Missense_Mutation_p.Y1076H|PRG4_ENST00000367483.4_Missense_Mutation_p.Y1128H|PRG4_ENST00000367486.3_Missense_Mutation_p.Y1126H|PRG4_ENST00000367484.3_Missense_Mutation_p.Y698H	p.Y1169H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			9	3550	+			1169			Hemopexin-like 1.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.3505T>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.196912	0.38806	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	4.53	4.53	0.55603	Hemopexin/matrixin (2);	0.000000	0.39834	U	0.001241	T	0.42040	0.1185	M	0.76170	2.325	0.41800	D	0.98991	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.995;0.996;0.988;0.995	T	0.44982	-0.9292	10	0.87932	D	0	-6.9519	14.1672	0.65486	0.0:0.0:0.0:1.0	.	1035;1076;1169;1128	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	H	1126;698;1128;1076;1169	ENSP00000356456:Y1126H;ENSP00000356454:Y698H;ENSP00000356453:Y1128H;ENSP00000356455:Y1076H;ENSP00000399679:Y1169H	ENSP00000356453:Y1128H	Y	+	1	0	PRG4	184546794	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.326000	0.79133	1.820000	0.53075	0.477000	0.44152	TAT		0.368	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		15	40	0	0	0	1	0	15	40				
MAN2B2	23324	broad.mit.edu	37	4	6610853	6610853	+	Missense_Mutation	SNP	C	C	T	rs151180999		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:6610853C>T	ENST00000285599.3	+	12	1870	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R561C|MAN2B2_ENST00000504960.1_3'UTR	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	612					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCGAACGGTGCGCGTGACCCA	0.572																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1834-1836)Cgc>Tgc		mannosidase, alpha, class 2B, member 2		C	CYS/ARG	0,4406		0,0,2203	78.0	68.0	71.0		1834	1.2	0.0	4	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense	MAN2B2	NM_015274.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	612/1010	6610853	1,13005	2203	4300	6503	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6610853C>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1834C>T	4.37:g.6610853C>T	ENSP00000285599:p.Arg612Cys					MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Missense_Mutation_p.R561C	p.R612C	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			12	1870	+			612					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.1834C>T	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655469	0.47467	0.0	1.16E-4	ENSG00000013288	ENST00000285599;ENST00000504248	T;T	0.79141	-1.24;-1.24	4.26	1.25	0.21368	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.934003	0.09143	N	0.842730	T	0.80711	0.4675	L	0.53249	1.67	0.09310	N	0.999997	D;D;D	0.76494	0.999;0.997;0.976	P;P;P	0.60345	0.873;0.873;0.764	T	0.65578	-0.6134	10	0.37606	T	0.19	-1.3779	6.6487	0.22949	0.3125:0.5998:0.0:0.0876	.	561;612;612	E9PCD7;Q9Y2E5;Q9Y2E5-2	.;MA2B2_HUMAN;.	C	612;561	ENSP00000285599:R612C;ENSP00000423129:R561C	ENSP00000285599:R612C	R	+	1	0	MAN2B2	6661754	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	0.618000	0.24373	0.245000	0.21373	0.313000	0.20887	CGC		0.572	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		8	17	0	0	0	1	0	8	17				
SPAM1	6677	broad.mit.edu	37	7	123594472	123594472	+	Missense_Mutation	SNP	G	G	A	rs147745114		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:123594472G>A	ENST00000439500.1	+	4	1461	c.848G>A	c.(847-849)cGg>cAg	p.R283Q	SPAM1_ENST00000460182.1_Missense_Mutation_p.R283Q|SPAM1_ENST00000402183.2_Missense_Mutation_p.R283Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R283Q|SPAM1_ENST00000340011.5_Missense_Mutation_p.R283Q	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	283					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AATCGAGTTCGGGAAGCCATC	0.423																																						ENST00000340011.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(847-849)cGg>cAg		sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	Hyaluronidase(DB00070)	A	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	824.2+/-416.5	0,1,2202	83.0	78.0	80.0		848,848,848,848,848	-4.2	0.0	7	dbSNP_134	80	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	SPAM1	NM_001174044.1,NM_001174045.1,NM_001174046.1,NM_003117.4,NM_153189.2	43,43,43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	283/510,283/510,283/510,283/512,283/510	123594472	1,13005	2203	4300	6503	SO:0001583	missense	0				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594472G>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.848G>A	7.37:g.123594472G>A	ENSP00000402123:p.Arg283Gln					SPAM1_ENST00000439500.1_Missense_Mutation_p.R283Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R283Q|SPAM1_ENST00000402183.2_Missense_Mutation_p.R283Q|SPAM1_ENST00000460182.1_Missense_Mutation_p.R283Q	p.R283Q	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN			3	1205	+			283					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.848G>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	A	3.931	-0.016253	0.07681	2.27E-4	0.0	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	6.17	-4.25	0.03766	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.748815	0.13390	N	0.391461	T	0.04407	0.0121	N	0.01202	-0.96	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.31166	-0.9953	9	.	.	.	0.1308	2.7787	0.05355	0.5624:0.0881:0.1784:0.1711	.	283;283	Q8TC30;P38567	.;HYALP_HUMAN	Q	283	ENSP00000386028:R283Q;ENSP00000417934:R283Q;ENSP00000345849:R283Q;ENSP00000402123:R283Q;ENSP00000223028:R283Q	.	R	+	2	0	SPAM1	123381708	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.417000	0.21214	-1.439000	0.01962	-2.248000	0.00284	CGG		0.423	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			27	46	0	0	0	1	0	27	46				
PLXNA2	5362	broad.mit.edu	37	1	208390533	208390533	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:208390533G>A	ENST00000367033.3	-	2	1492	c.735C>T	c.(733-735)taC>taT	p.Y245Y		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	245	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TAGCAAAGCCGTAGATGTAGA	0.537																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(733-735)taC>taT		plexin A2							159.0	166.0	163.0					1																	208390533		2203	4300	6503	SO:0001819	synonymous_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208390533G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.735C>T	1.37:g.208390533G>A							p.Y245Y	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	2	1492	-			245			Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	c.735C>T	CCDS31013.1																																																																																				0.537	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		39	124	0	0	0	1	0	39	124				
MAN2C1	4123	broad.mit.edu	37	15	75655014	75655014	+	Missense_Mutation	SNP	C	C	T	rs149884810		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:75655014C>T	ENST00000267978.5	-	7	912	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	MAN2C1_ENST00000565683.1_Missense_Mutation_p.R289Q|MAN2C1_ENST00000563539.1_5'Flank|MAN2C1_ENST00000563622.1_Intron|MAN2C1_ENST00000569482.1_Missense_Mutation_p.R289Q	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	289					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CTCAGGGTTCCGCTCCATGAG	0.622																																						ENST00000565683.1																			0				central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(865-867)cGg>cAg		mannosidase, alpha, class 2C, member 1		C	GLN/ARG	0,4394		0,0,2197	67.0	68.0	68.0		866	-10.9	0.0	15	dbSNP_134	68	2,8586	2.2+/-6.3	0,2,4292	no	missense	MAN2C1	NM_006715.2	43	0,2,6489	TT,TC,CC		0.0233,0.0,0.0154	benign	289/1041	75655014	2,12980	2197	4294	6491	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75655014C>T	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.866G>A	15.37:g.75655014C>T	ENSP00000267978:p.Arg289Gln					MAN2C1_ENST00000267978.5_Missense_Mutation_p.R289Q|MAN2C1_ENST00000569482.1_Missense_Mutation_p.R289Q|MAN2C1_ENST00000563622.1_Intron	p.R289Q	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN			7	877	-			289					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.866G>A	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358650	0.24598	0.0	2.33E-4	ENSG00000140400	ENST00000267978	T	0.79352	-1.26	5.45	-10.9	0.00192	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.734425	0.13173	N	0.408140	T	0.50017	0.1591	N	0.12611	0.24	0.09310	N	1	P;B;B	0.38582	0.638;0.001;0.0	B;B;B	0.32805	0.153;0.003;0.002	T	0.47446	-0.9117	10	0.09843	T	0.71	-6.6637	18.6996	0.91615	0.0:0.1239:0.0:0.8761	.	71;289;289	B4DVP6;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	Q	289	ENSP00000267978:R289Q	ENSP00000267978:R289Q	R	-	2	0	MAN2C1	73442067	0.049000	0.20398	0.008000	0.14137	0.294000	0.27393	-0.301000	0.08232	-2.397000	0.00581	-0.459000	0.05422	CGG		0.622	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			7	19	0	0	0	1	0	7	19				
FAM171A1	221061	broad.mit.edu	37	10	15254959	15254959	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:15254959C>T	ENST00000378116.4	-	8	2634	c.2628G>A	c.(2626-2628)tgG>tgA	p.W876*	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	876						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCCGTTTCTGCCAGGGGCTTT	0.512																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(2626-2628)tgG>tgA		family with sequence similarity 171, member A1							133.0	133.0	133.0					10																	15254959		2203	4300	6503	SO:0001587	stop_gained	221061					integral to membrane		g.chr10:15254959C>T	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2628G>A	10.37:g.15254959C>T	ENSP00000367356:p.Trp876*						p.W876*	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	2634	-			876					D3DRT9|Q32M49|Q8N4I0	Nonsense_Mutation	SNP	ENST00000378116.4	37	c.2628G>A	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	C	37	6.328742	0.97480	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9849	18.5102	0.90913	0.0:1.0:0.0:0.0	.	.	.	.	X	876;875	.	ENSP00000367356:W876X	W	-	3	0	FAM171A1	15294965	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.909000	0.69923	2.597000	0.87782	0.563000	0.77884	TGG		0.512	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		32	72	0	0	0	1	0	32	72				
SERPINA10	51156	broad.mit.edu	37	14	94756471	94756471	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:94756471G>A	ENST00000393096.1	-	2	925	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C	SERPINA10_ENST00000554173.1_Missense_Mutation_p.R154C|SERPINA10_ENST00000554723.1_Missense_Mutation_p.R194C|SERPINA10_ENST00000261994.4_Missense_Mutation_p.R154C	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	154					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCCAGGTTGCGGGAGAGGGTC	0.517																																						ENST00000554723.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(580-582)Cgc>Tgc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10							55.0	62.0	60.0					14																	94756471		2203	4300	6503	SO:0001583	missense	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94756471G>A	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.460C>T	14.37:g.94756471G>A	ENSP00000376809:p.Arg154Cys					SERPINA10_ENST00000261994.4_Missense_Mutation_p.R154C|SERPINA10_ENST00000393096.1_Missense_Mutation_p.R154C|SERPINA10_ENST00000554173.1_Missense_Mutation_p.R154C	p.R194C			Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	998	-		all_cancers(154;0.105)	154					A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	c.580C>T	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	G	8.354	0.831583	0.16820	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	4.97	-1.08	0.09936	Serpin domain (3);	2.161880	0.01822	N	0.034133	T	0.76263	0.3963	L	0.38175	1.15	0.09310	N	1	P	0.52170	0.951	B	0.38616	0.277	T	0.67526	-0.5648	10	0.72032	D	0.01	.	3.8622	0.09001	0.0828:0.182:0.1725:0.5628	.	154	Q9UK55	ZPI_HUMAN	C	194;154;154;154	ENSP00000450896:R194C;ENSP00000376809:R154C;ENSP00000261994:R154C;ENSP00000450971:R154C	ENSP00000261994:R154C	R	-	1	0	SERPINA10	93826224	0.026000	0.19158	0.001000	0.08648	0.006000	0.05464	0.030000	0.13688	-0.183000	0.10585	0.313000	0.20887	CGC		0.517	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		15	54	0	0	0	1	0	15	54				
TRPM4	54795	broad.mit.edu	37	19	49714069	49714069	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:49714069A>G	ENST00000252826.5	+	22	3557	c.3431A>G	c.(3430-3432)gAc>gGc	p.D1144G	TRPM4_ENST00000355712.5_Missense_Mutation_p.D790G|TRPM4_ENST00000427978.2_Missense_Mutation_p.D999G	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1144	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CGGGAGAGCGACTCCGAGCGT	0.612																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(3430-3432)gAc>gGc		transient receptor potential cation channel, subfamily M, member 4							25.0	27.0	26.0					19																	49714069		2201	4300	6501	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49714069A>G	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3431A>G	19.37:g.49714069A>G	ENSP00000252826:p.Asp1144Gly					TRPM4_ENST00000427978.2_Missense_Mutation_p.D999G|TRPM4_ENST00000355712.5_Missense_Mutation_p.D790G	p.D1144G	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	22	3557	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	1144			Calmodulin-binding.		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.3431A>G	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.203933	0.79127	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.58797	0.36;0.31;0.5	5.09	5.09	0.68999	.	0.106720	0.64402	D	0.000010	T	0.68016	0.2955	M	0.69823	2.125	0.52501	D	0.999956	D;P;P;D	0.64830	0.994;0.901;0.837;0.989	P;P;P;P	0.54706	0.759;0.634;0.634;0.68	T	0.69698	-0.5075	10	0.41790	T	0.15	-29.1724	14.1529	0.65398	1.0:0.0:0.0:0.0	.	790;970;999;1144	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	G	1144;999;790	ENSP00000252826:D1144G;ENSP00000407492:D999G;ENSP00000347944:D790G	ENSP00000252826:D1144G	D	+	2	0	TRPM4	54405881	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.199000	0.72112	2.047000	0.60756	0.459000	0.35465	GAC		0.612	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		3	14	0	0	0	1	0	3	14				
LFNG	3955	broad.mit.edu	37	7	2565181	2565181	+	Missense_Mutation	SNP	C	C	T	rs143479850	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:2565181C>T	ENST00000222725.5	+	4	735	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	LFNG_ENST00000359574.3_Missense_Mutation_p.R239W|LFNG_ENST00000402506.1_Missense_Mutation_p.R168W|MIR4648_ENST00000580107.1_RNA|LFNG_ENST00000402045.1_Missense_Mutation_p.R110W|LFNG_ENST00000338732.3_Missense_Mutation_p.R110W	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	239					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GGCCATGGAGCGGGTCAGCGA	0.716																																						ENST00000222725.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6						c.(715-717)Cgg>Tgg		LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4402		0,0,2201	32.0	32.0	32.0		715,715,502,328	1.5	0.0	7	dbSNP_134	32	2,8594	2.2+/-6.3	0,2,4296	yes	missense,missense,missense,missense	LFNG	NM_001040167.1,NM_001040168.1,NM_001166355.1,NM_002304.2	101,101,101,101	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	239/380,239/362,168/309,110/251	2565181	2,12996	2201	4298	6499	SO:0001583	missense	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2565181C>T	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.715C>T	7.37:g.2565181C>T	ENSP00000222725:p.Arg239Trp					LFNG_ENST00000402506.1_Missense_Mutation_p.R168W|LFNG_ENST00000402045.1_Missense_Mutation_p.R110W|LFNG_ENST00000338732.3_Missense_Mutation_p.R110W|LFNG_ENST00000359574.3_Missense_Mutation_p.R239W	p.R239W	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	4	735	+		Ovarian(82;0.0112)	239					B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Missense_Mutation	SNP	ENST00000222725.5	37	c.715C>T	CCDS34587.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876409	0.51801	0.0	2.33E-4	ENSG00000106003	ENST00000402506;ENST00000402045;ENST00000338732;ENST00000222725;ENST00000359574	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	4.95	1.53	0.23141	.	0.047636	0.85682	D	0.000000	T	0.78104	0.4231	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	T	0.77062	-0.2727	10	0.87932	D	0	-3.1195	7.4773	0.27385	0.6314:0.2687:0.0:0.0999	.	239;239	Q8NES3-3;Q8NES3	.;LFNG_HUMAN	W	168;110;110;239;239	ENSP00000385764:R168W;ENSP00000384786:R110W;ENSP00000343095:R110W;ENSP00000222725:R239W;ENSP00000352579:R239W	ENSP00000222725:R239W	R	+	1	2	LFNG	2531707	1.000000	0.71417	0.021000	0.16686	0.573000	0.36030	2.771000	0.47670	0.408000	0.25621	0.561000	0.74099	CGG		0.716	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	NM_002304		4	10	0	0	0	1	0	4	10				
NTSR1	4923	broad.mit.edu	37	20	61391477	61391477	+	Missense_Mutation	SNP	G	G	A	rs377711186		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:61391477G>A	ENST00000370501.3	+	4	1486	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	372					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.R372L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCCAACTTCCGCCACATCTTC	0.587																																					GBM(37;400 780 6403 19663 35669)	ENST00000370501.3																			1	Substitution - Missense(1)	p.R372L(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(1114-1116)cGc>cAc		neurotensin receptor 1 (high affinity)							199.0	162.0	175.0					20																	61391477		2203	4300	6503	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61391477G>A		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.1115G>A	20.37:g.61391477G>A	ENSP00000359532:p.Arg372His					NTSR1_ENST00000482259.1_3'UTR	p.R372H	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		4	1486	+	Breast(26;3.65e-08)		372					Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.1115G>A	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170305	0.94768	.	.	ENSG00000101188	ENST00000370501	T	0.58358	0.34	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.64170	0.2574	L	0.32530	0.975	0.53688	D	0.999972	D	0.89917	1.0	D	0.87578	0.998	T	0.69146	-0.5222	10	0.87932	D	0	-34.0389	17.7144	0.88332	0.0:0.0:1.0:0.0	.	372	P30989	NTR1_HUMAN	H	372	ENSP00000359532:R372H	ENSP00000359532:R372H	R	+	2	0	NTSR1	60861922	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.365000	0.97139	2.153000	0.67306	0.650000	0.86243	CGC		0.587	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			6	113	0	0	0	1	0	6	113				
PCDHA2	56146	broad.mit.edu	37	5	140176038	140176038	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140176038C>T	ENST00000526136.1	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	497	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAGCGGCGGGTGGG	0.672																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1489-1491)Cgg>Tgg									53.0	57.0	56.0					5																	140176038		2203	4300	6503	SO:0001583	missense	0							g.chr5:140176038C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1489C>T	5.37:g.140176038C>T	ENSP00000431748:p.Arg497Trp					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W	p.R497W	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1489	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1489C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	16.53	3.149674	0.57151	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.52295	0.67;0.67;0.67	4.05	2.03	0.26663	Cadherin (4);Cadherin-like (1);	0.194082	0.23035	U	0.052684	T	0.58018	0.2093	M	0.63208	1.945	0.24455	N	0.994467	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75484	0.959;0.986;0.959	T	0.44620	-0.9316	10	0.87932	D	0	.	4.5007	0.11863	0.3983:0.4929:0.0:0.1087	.	497;497;497	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	W	497	ENSP00000430584:R497W;ENSP00000367372:R497W;ENSP00000431748:R497W	ENSP00000367372:R497W	R	+	1	2	PCDHA2	140156222	0.000000	0.05858	0.998000	0.56505	0.939000	0.58152	-0.526000	0.06207	0.812000	0.34326	-0.195000	0.12781	CGG		0.672	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		7	62	0	0	0	1	0	7	62				
TRIM56	81844	broad.mit.edu	37	7	100732487	100732487	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100732487C>T	ENST00000306085.6	+	3	2191	c.1894C>T	c.(1894-1896)Cgg>Tgg	p.R632W		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	632					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CAAGGCCAGCCGGGGCCTGCG	0.652																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1894-1896)Cgg>Tgg		tripartite motif containing 56							49.0	58.0	55.0					7																	100732487		1918	4119	6037	SO:0001583	missense	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100732487C>T	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1894C>T	7.37:g.100732487C>T	ENSP00000305161:p.Arg632Trp						p.R632W	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN			3	2191	+	Lung NSC(181;0.136)|all_lung(186;0.182)		632					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.1894C>T	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103257	0.37145	.	.	ENSG00000169871	ENST00000306085	T	0.30448	1.53	4.14	1.11	0.20524	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.24586	0.0596	N	0.08118	0	0.19575	N	0.999963	D	0.69078	0.997	P	0.53593	0.73	T	0.20672	-1.0268	9	0.66056	D	0.02	.	9.9173	0.41442	0.5771:0.4229:0.0:0.0	.	632	Q9BRZ2	TRI56_HUMAN	W	632	ENSP00000305161:R632W	ENSP00000305161:R632W	R	+	1	2	TRIM56	100519207	0.737000	0.28175	0.233000	0.24025	0.626000	0.37791	0.480000	0.22244	0.231000	0.21079	0.650000	0.86243	CGG		0.652	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		27	48	0	0	0	1	0	27	48				
CNR1	1268	broad.mit.edu	37	6	88853864	88853864	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:88853864G>A	ENST00000537554.1	-	2	4692	c.1130C>T	c.(1129-1131)aCg>aTg	p.T377M	CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.T377M|CNR1_ENST00000468898.1_Missense_Mutation_p.T344M|CNR1_ENST00000535130.1_Missense_Mutation_p.T377M|CNR1_ENST00000549716.1_Missense_Mutation_p.T316M|CNR1_ENST00000369499.2_Missense_Mutation_p.T377M|CNR1_ENST00000549890.1_Missense_Mutation_p.T377M|CNR1_ENST00000369501.2_Missense_Mutation_p.T377M	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	377					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)	p.T377M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGCAAACACCGTCTTAATGAG	0.522																																						ENST00000537554.1																			1	Substitution - Missense(1)	p.T377M(1)	large_intestine(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(1129-1131)aCg>aTg		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						129.0	124.0	126.0					6																	88853864		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88853864G>A	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1130C>T	6.37:g.88853864G>A	ENSP00000441046:p.Thr377Met					CNR1_ENST00000468898.1_Missense_Mutation_p.T344M|CNR1_ENST00000369501.2_Missense_Mutation_p.T377M|CNR1_ENST00000549890.1_Missense_Mutation_p.T377M|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549716.1_Missense_Mutation_p.T316M|CNR1_ENST00000369499.2_Missense_Mutation_p.T377M|CNR1_ENST00000535130.1_Missense_Mutation_p.T377M|CNR1_ENST00000428600.2_Missense_Mutation_p.T377M	p.T377M	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4692	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	377					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.1130C>T	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812190	0.50527	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	6.05	6.05	0.98169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	L	0.43646	1.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	T	0.42032	-0.9475	10	0.62326	D	0.03	.	20.6086	0.99469	0.0:0.0:1.0:0.0	.	344;377	P21554-3;P21554	.;CNR1_HUMAN	M	377;377;377;377;377;344;377;316	ENSP00000358513:T377M;ENSP00000442689:T377M;ENSP00000441046:T377M;ENSP00000358511:T377M;ENSP00000446819:T377M;ENSP00000420188:T344M;ENSP00000412192:T377M;ENSP00000449549:T316M	ENSP00000358511:T377M	T	-	2	0	CNR1	88910583	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	7.876000	0.87215	2.880000	0.98712	0.655000	0.94253	ACG		0.522	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			7	52	0	0	0	1	0	7	52				
PIGW	284098	broad.mit.edu	37	17	34893859	34893859	+	Silent	SNP	C	C	T	rs199843214		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:34893859C>T	ENST00000592983.1	+	2	1489	c.909C>T	c.(907-909)cgC>cgT	p.R303R	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Silent_p.R303R			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	303					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGCCAACCGCGAAGGAATAA	0.428																																						ENST00000592983.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(907-909)cgC>cgT		phosphatidylinositol glycan anchor biosynthesis, class W		C		1,4405	4.2+/-10.8	0,1,2202	79.0	77.0	78.0		909	0.2	1.0	17		78	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PIGW	NM_178517.3		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		303/505	34893859	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	284098				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity	g.chr17:34893859C>T	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"""Phosphatidylinositol glycan anchor biosynthesis"""	23213	protein-coding gene	gene with protein product		610275	"""phosphatidylinositol glycan, class W"""			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.909C>T	17.37:g.34893859C>T						PIGW_ENST00000328396.2_Silent_p.R303R|MYO19_ENST00000590081.1_Intron	p.R303R			Q7Z7B1	PIGW_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	1489	+		Breast(25;0.00957)|Ovarian(249;0.17)	303					Q8N9G3	Silent	SNP	ENST00000592983.1	37	c.909C>T	CCDS11313.1																																																																																				0.428	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	NM_178517		19	60	0	0	0	1	0	19	60				
LARS2	23395	broad.mit.edu	37	3	45559536	45559536	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:45559536G>T	ENST00000415258.1	+	17	2327	c.2186G>T	c.(2185-2187)tGg>tTg	p.W729L	LARS2_ENST00000265537.3_Missense_Mutation_p.W729L|LARS2_ENST00000414984.1_Missense_Mutation_p.W686L|LARS2_ENST00000467936.1_3'UTR			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	729					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AGGAAGCTCTGGGAGTACAAG	0.517																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(2185-2187)tGg>tTg		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						51.0	48.0	49.0					3																	45559536		2203	4300	6503	SO:0001583	missense	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45559536G>T	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.2186G>T	3.37:g.45559536G>T	ENSP00000408576:p.Trp729Leu					LARS2_ENST00000467936.1_3'UTR|LARS2_ENST00000414984.1_Missense_Mutation_p.W686L|LARS2_ENST00000265537.3_Missense_Mutation_p.W729L	p.W729L			Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	17	2327	+			729						Missense_Mutation	SNP	ENST00000415258.1	37	c.2186G>T	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548566	0.27652	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.05855	3.38;3.38;3.38	5.66	3.72	0.42706	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.189858	0.49916	D	0.000133	T	0.08980	0.0222	L	0.46741	1.465	0.80722	D	1	P;P	0.51537	0.946;0.904	P;P	0.48598	0.583;0.583	T	0.17198	-1.0377	10	0.25106	T	0.35	-5.603	10.7222	0.46046	0.0695:0.0:0.8002:0.1303	.	686;729	E9PHM2;Q15031	.;SYLM_HUMAN	L	729;729;686	ENSP00000265537:W729L;ENSP00000408576:W729L;ENSP00000412893:W686L	ENSP00000265537:W729L	W	+	2	0	LARS2	45534540	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.059000	0.64306	2.666000	0.90696	0.655000	0.94253	TGG		0.517	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		7	22	1	0	0.00198382	1	0.00201126	7	22				
ABCC5	10057	broad.mit.edu	37	3	183667646	183667646	+	Missense_Mutation	SNP	C	C	T	rs376038853		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:183667646C>T	ENST00000334444.6	-	22	3362	c.3122G>A	c.(3121-3123)cGt>cAt	p.R1041H	ABCC5_ENST00000265586.6_Intron	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1041	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	ATTGTCCAGACGCTTCAGCTC	0.562																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3121-3123)cGt>cAt		ATP-binding cassette, sub-family C (CFTR/MRP), member 5		C	HIS/ARG	1,4213		0,1,2106	121.0	130.0	127.0		3122	4.9	1.0	3		127	1,8447		0,1,4223	no	missense	ABCC5	NM_005688.2	29	0,2,6329	TT,TC,CC		0.0118,0.0237,0.0158	probably-damaging	1041/1438	183667646	2,12660	2107	4224	6331	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183667646C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3122G>A	3.37:g.183667646C>T	ENSP00000333926:p.Arg1041His					ABCC5_ENST00000265586.6_Intron	p.R1041H	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		22	3362	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1041			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.3122G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003048	0.93287	2.37E-4	1.18E-4	ENSG00000114770	ENST00000334444	D	0.90444	-2.67	5.81	4.94	0.65067	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.047266	0.85682	N	0.000000	D	0.96623	0.8898	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.97496	1.0057	10	0.66056	D	0.02	-8.3426	14.6272	0.68629	0.0:0.9305:0.0:0.0695	.	1041	O15440	MRP5_HUMAN	H	1041	ENSP00000333926:R1041H	ENSP00000333926:R1041H	R	-	2	0	ABCC5	185150340	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.802000	0.85969	1.461000	0.47929	0.655000	0.94253	CGT		0.562	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		6	74	0	0	0	1	0	6	74				
TPST1	8460	broad.mit.edu	37	7	65705780	65705780	+	Missense_Mutation	SNP	G	G	A	rs542123303		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:65705780G>A	ENST00000304842.5	+	2	793	c.368G>A	c.(367-369)cGc>cAc	p.R123H	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	123					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GAGAAGATCCGCCTGGATGAG	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20253	0.0		0.0	False		,,,				2504	0.0					ENST00000304842.5																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(367-369)cGc>cAc		tyrosylprotein sulfotransferase 1							113.0	109.0	110.0					7																	65705780		2203	4300	6503	SO:0001583	missense	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65705780G>A	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.368G>A	7.37:g.65705780G>A	ENSP00000302413:p.Arg123His					TPST1_ENST00000480281.1_Intron	p.R123H	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN			2	793	+			123					A4D2M0|Q6FGM7	Missense_Mutation	SNP	ENST00000304842.5	37	c.368G>A	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888521	0.91814	.	.	ENSG00000169902	ENST00000304842;ENST00000544114;ENST00000451388	.	.	.	5.78	5.78	0.91487	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.85856	0.5794	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.76071	0.828;0.987	D	0.86560	0.1840	9	0.44086	T	0.13	-12.2145	19.0054	0.92848	0.0:0.0:1.0:0.0	.	123;123	F5H7U7;O60507	.;TPST1_HUMAN	H	123	.	ENSP00000302413:R123H	R	+	2	0	TPST1	65343215	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	8.786000	0.91826	2.723000	0.93209	0.585000	0.79938	CGC		0.507	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596		4	56	0	0	0	1	0	4	56				
MUC16	94025	broad.mit.edu	37	19	9058758	9058758	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:9058758G>C	ENST00000397910.4	-	3	28891	c.28688C>G	c.(28687-28689)aCa>aGa	p.T9563R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9565	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCAGGCATTGTTGTGGAAAC	0.493																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(28687-28689)aCa>aGa		mucin 16, cell surface associated							88.0	83.0	85.0					19																	9058758		1964	4142	6106	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058758G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28688C>G	19.37:g.9058758G>C	ENSP00000381008:p.Thr9563Arg						p.T9563R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	28891	-			9565			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.28688C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.133	0.210114	0.09757	.	.	ENSG00000181143	ENST00000397910	T	0.22336	1.96	2.5	0.21	0.15231	.	.	.	.	.	T	0.10294	0.0252	N	0.14661	0.345	.	.	.	P	0.46020	0.871	B	0.40534	0.332	T	0.18085	-1.0348	8	0.87932	D	0	.	2.8612	0.05588	0.1597:0.0:0.5668:0.2734	.	9563	B5ME49	.	R	9563	ENSP00000381008:T9563R	ENSP00000381008:T9563R	T	-	2	0	MUC16	8919758	0.002000	0.14202	0.000000	0.03702	0.180000	0.23129	0.624000	0.24462	0.133000	0.18654	0.305000	0.20034	ACA		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		31	34	0	0	0	1	0	31	34				
ALKBH2	121642	broad.mit.edu	37	12	109526137	109526137	+	Silent	SNP	G	G	A	rs374317590		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:109526137G>A	ENST00000429722.2	-	4	1023	c.660C>T	c.(658-660)caC>caT	p.H220H	ALKBH2_ENST00000343075.3_Silent_p.H220H|ALKBH2_ENST00000440112.2_Missense_Mutation_p.T154M	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	220	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	GTAAGCTCCCGTGGGCCAGCG	0.577								Direct reversal of damage																														ENST00000440112.2																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8						c.(460-462)aCg>aTg	Direct reversal of damage	alkB, alkylation repair homolog 2 (E. coli)	Vitamin C(DB00126)						102.0	104.0	103.0					12																	109526137		2203	4300	6503	SO:0001819	synonymous_variant	121642				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:109526137G>A	AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"""Alkylation repair homologs"""	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.660C>T	12.37:g.109526137G>A						ALKBH2_ENST00000429722.2_Silent_p.H220H|ALKBH2_ENST00000343075.3_Silent_p.H220H	p.T154M	NM_001205179.1|NM_001205180.1	NP_001192108.1|NP_001192109.1	Q6NS38	ALKB2_HUMAN			2	463	-			0			Fe2OG dioxygenase.		A4PET2|Q5XLE3	Missense_Mutation	SNP	ENST00000429722.2	37	c.461C>T	CCDS31897.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.346941	0.41599	.	.	ENSG00000189046	ENST00000440112	.	.	.	5.62	-1.8	0.07907	.	.	.	.	.	T	0.39009	0.1062	.	.	.	0.80722	D	1	P	0.46621	0.881	B	0.34489	0.184	T	0.36212	-0.9757	7	0.87932	D	0	-29.9495	12.769	0.57410	0.5848:0.0:0.4152:0.0	.	154	A4PET2	.	M	154	.	ENSP00000399820:T154M	T	-	2	0	ALKBH2	108010520	0.808000	0.29022	0.635000	0.29338	0.209000	0.24338	-0.073000	0.11468	-0.743000	0.04784	-0.136000	0.14681	ACG		0.577	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2	NM_001001655		29	69	0	0	0	1	0	29	69				
C7orf57	136288	broad.mit.edu	37	7	48081003	48081003	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:48081003G>T	ENST00000348904.3	+	3	340	c.128G>T	c.(127-129)gGt>gTt	p.G43V	C7orf57_ENST00000430738.1_Missense_Mutation_p.G88V|C7orf57_ENST00000420324.1_Missense_Mutation_p.G88V|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000539619.1_Missense_Mutation_p.G43V	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	43										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CAGATCCCAGGTCTCAGCAAT	0.537																																						ENST00000348904.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(127-129)gGt>gTt		chromosome 7 open reading frame 57							52.0	56.0	55.0					7																	48081003		1920	4144	6064	SO:0001583	missense	136288							g.chr7:48081003G>T	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.128G>T	7.37:g.48081003G>T	ENSP00000335500:p.Gly43Val					C7orf57_ENST00000420324.1_Missense_Mutation_p.G88V|C7orf57_ENST00000539619.1_Missense_Mutation_p.G43V|C7orf57_ENST00000430738.1_Missense_Mutation_p.G88V|C7orf57_ENST00000435376.1_5'UTR	p.G43V	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN			3	340	+			43					C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	c.128G>T	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465547	0.63513	.	.	ENSG00000164746	ENST00000420324;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.68613	0.3020	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72114	-0.4388	10	0.66056	D	0.02	-18.7036	17.2972	0.87173	0.0:0.0:1.0:0.0	.	43	Q8NEG2	CG057_HUMAN	V	88;88;43;43	ENSP00000394648:G88V;ENSP00000410944:G88V;ENSP00000335500:G43V;ENSP00000442474:G43V	ENSP00000335500:G43V	G	+	2	0	C7orf57	48047528	1.000000	0.71417	0.954000	0.39281	0.312000	0.27988	6.127000	0.71642	2.670000	0.90874	0.563000	0.77884	GGT		0.537	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		10	27	1	0	1.33987e-11	1	1.42901e-11	10	27				
TTN	7273	broad.mit.edu	37	2	179440959	179440959	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:179440959C>T	ENST00000591111.1	-	276	65201	c.64977G>A	c.(64975-64977)caG>caA	p.Q21659Q	TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.Q14360Q|TTN_ENST00000460472.2_Silent_p.Q14235Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.Q14427Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.Q23300Q|TTN_ENST00000342992.6_Silent_p.Q20732Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21659	Fibronectin type-III 57. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACAACGAACTGAGTGATTC	0.468																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(69898-69900)caG>caA		titin							73.0	72.0	72.0					2																	179440959		1903	4129	6032	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179440959C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64977G>A	2.37:g.179440959C>T						TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.Q14360Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.Q20732Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.Q14235Q|TTN_ENST00000591111.1_Silent_p.Q21659Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Silent_p.Q14427Q|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA	p.Q23300Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	70124	-			21659			Fibronectin type-III 69.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.69900G>A																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	32	0	0	0	1	0	5	32				
NBEA	26960	broad.mit.edu	37	13	35770248	35770248	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:35770248G>A	ENST00000400445.3	+	31	5709	c.5175G>A	c.(5173-5175)acG>acA	p.T1725T	NBEA_ENST00000310336.4_Silent_p.T1725T|NBEA_ENST00000540320.1_Silent_p.T1725T|NBEA_ENST00000379939.2_Silent_p.T1722T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1725					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTAGTGAAACGTTGAAGCCTG	0.413																																						ENST00000400445.3																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(5173-5175)acG>acA		neurobeachin							86.0	84.0	85.0					13																	35770248		1894	4146	6040	SO:0001819	synonymous_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35770248G>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5175G>A	13.37:g.35770248G>A						NBEA_ENST00000379939.2_Silent_p.T1722T|NBEA_ENST00000310336.4_Silent_p.T1725T|NBEA_ENST00000540320.1_Silent_p.T1725T	p.T1725T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	31	5709	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1725					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	c.5175G>A	CCDS45026.1																																																																																				0.413	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		17	45	0	0	0	1	0	17	45				
F7	2155	broad.mit.edu	37	13	113773158	113773158	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:113773158C>T	ENST00000375581.3	+	9	1272	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W	F7_ENST00000541084.1_Missense_Mutation_p.R344W|F7_ENST00000346342.3_Missense_Mutation_p.R391W	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	413	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		R -> G (in FA7D). {ECO:0000269|PubMed:18976247}.|R -> Q (may be associated with decreased susceptibility to myocardial infarction; dbSNP:rs6046). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:10984565, ECO:0000269|PubMed:16292673, ECO:0000269|PubMed:8043443, ECO:0000269|PubMed:8844208, ECO:0000269|Ref.6}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CACCCACTACCGGGGCACGTG	0.627																																						ENST00000375581.3																			0				large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	GRCh37	CM090316	F7	M		c.(1237-1239)Cgg>Tgg		coagulation factor VII (serum prothrombin conversion accelerator)	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						27.0	28.0	28.0					13																	113773158		2201	4299	6500	SO:0001583	missense	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113773158C>T		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.1237C>T	13.37:g.113773158C>T	ENSP00000364731:p.Arg413Trp					F7_ENST00000541084.1_Missense_Mutation_p.R344W|F7_ENST00000346342.3_Missense_Mutation_p.R391W	p.R413W	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		9	1272	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	413		R -> G (in FA7D).|R -> Q (may be associated with decreased susceptibility to myocardial infarction; dbSNP:rs6046).	Peptidase S1.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	c.1237C>T	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751666	0.31046	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.82081	-1.57;-1.57;-1.57	4.11	2.14	0.27477	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.744753	0.11868	N	0.521729	D	0.87993	0.6318	M	0.72118	2.19	0.30246	N	0.794537	D;D;D	0.89917	0.999;1.0;1.0	P;P;P	0.60473	0.833;0.802;0.875	T	0.82676	-0.0339	10	0.72032	D	0.01	.	10.5384	0.45018	0.6056:0.3944:0.0:0.0	.	344;391;413	F5H8B0;P08709-2;P08709	.;.;FA7_HUMAN	W	391;344;413	ENSP00000329546:R391W;ENSP00000442051:R344W;ENSP00000364731:R413W	ENSP00000329546:R391W	R	+	1	2	F7	112821159	0.622000	0.27085	0.043000	0.18650	0.016000	0.09150	1.286000	0.33273	1.024000	0.39682	0.467000	0.42956	CGG		0.627	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		3	17	0	0	0	1	0	3	17				
ZNF44	51710	broad.mit.edu	37	19	12383898	12383898	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:12383898C>T	ENST00000356109.5	-	5	1434	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D	ZNF44_ENST00000355684.5_Missense_Mutation_p.G391D	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TTTATGAGGGCCATCTCCAGT	0.428																																						ENST00000356109.5																			0				ovary(1)	1						c.(1315-1317)gGc>gAc		zinc finger protein 44							80.0	82.0	81.0					19																	12383898		2203	4300	6503	SO:0001583	missense	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12383898C>T	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.1316G>A	19.37:g.12383898C>T	ENSP00000348419:p.Gly439Asp					ZNF44_ENST00000355684.5_Missense_Mutation_p.G391D	p.G439D	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	5	1434	-		Renal(1328;0.157)	439					B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	c.1316G>A	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178539	0.57692	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.17370	2.28;3.18;2.28	0.997	-0.0892	0.13670	Zinc finger, C2H2 (1);	.	.	.	.	T	0.19406	0.0466	N	0.13272	0.32	.	.	.	D;D	0.89917	0.999;1.0	D;D	0.97110	0.984;1.0	T	0.27606	-1.0069	8	0.87932	D	0	.	4.8655	0.13606	0.0:0.2215:0.0:0.7785	.	439;391	P15621;F8W7T7	ZNF44_HUMAN;.	D	439;439;391;391	ENSP00000377008:G439D;ENSP00000348419:G439D;ENSP00000347910:G391D	ENSP00000347910:G391D	G	-	2	0	ZNF44	12244898	0.000000	0.05858	0.005000	0.12908	0.758000	0.43043	-2.231000	0.01206	-0.055000	0.13244	0.305000	0.20034	GGC		0.428	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		31	68	0	0	0	1	0	31	68				
MYH2	4620	broad.mit.edu	37	17	10448739	10448739	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:10448739G>A	ENST00000245503.5	-	5	813	c.429C>T	c.(427-429)taC>taT	p.Y143Y	MYH2_ENST00000532183.2_Silent_p.Y143Y|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.Y143Y	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	143	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTTGCCTCGGTAGGCTGTCA	0.522																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(427-429)taC>taT		myosin, heavy chain 2, skeletal muscle, adult							126.0	130.0	128.0					17																	10448739		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10448739G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.429C>T	17.37:g.10448739G>A						CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.Y143Y|MYH2_ENST00000532183.1_Silent_p.Y143Y	p.Y143Y	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			5	813	-			143			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.429C>T	CCDS11156.1																																																																																				0.522	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		43	88	0	0	0	1	0	43	88				
CP	1356	broad.mit.edu	37	3	148924002	148924002	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:148924002G>T	ENST00000264613.6	-	6	1423	c.1161C>A	c.(1159-1161)ccC>ccA	p.P387P		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	387	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.P387P(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CTATACCAGAGGGAGCATAGT	0.403																																						ENST00000264613.6																			1	Substitution - coding silent(1)	p.P387P(1)	lung(1)	breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1159-1161)ccC>ccA		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						131.0	130.0	130.0					3																	148924002		2203	4300	6503	SO:0001819	synonymous_variant	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148924002G>T	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1161C>A	3.37:g.148924002G>T							p.P387P	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		6	1423	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	387			F5/8 type A 2.|Plastocyanin-like 3.		Q14063|Q2PP18|Q9UKS4	Silent	SNP	ENST00000264613.6	37	c.1161C>A	CCDS3141.1																																																																																				0.403	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		27	67	1	0	3.28513e-13	1	3.51831e-13	27	67				
TGFB1I1	7041	broad.mit.edu	37	16	31485718	31485718	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:31485718C>T	ENST00000394863.3	+	6	591	c.461C>T	c.(460-462)gCc>gTc	p.A154V	TGFB1I1_ENST00000361773.3_Missense_Mutation_p.A137V|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A137V|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A137V	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	154	Interaction with PTK2B/PYK2.|Transcription activation. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						GCCACCTCAGCCACTCTGGAG	0.577																																						ENST00000394863.3																			0				lung(8)|upper_aerodigestive_tract(1)	9						c.(460-462)gCc>gTc		transforming growth factor beta 1 induced transcript 1							72.0	68.0	69.0					16																	31485718		2197	4300	6497	SO:0001583	missense	7041				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding	g.chr16:31485718C>T	AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.461C>T	16.37:g.31485718C>T	ENSP00000378332:p.Ala154Val					TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A137V|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.A137V|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A137V	p.A154V	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN			6	591	+			154			Interaction with PTK2B.|Transcription activation (By similarity).		B2R8D5|Q9BPW3|Q9Y2V5	Missense_Mutation	SNP	ENST00000394863.3	37	c.461C>T	CCDS42156.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161581	0.94727	.	.	ENSG00000140682	ENST00000394863;ENST00000361773;ENST00000394858	T;T;T	0.58797	0.31;0.32;0.32	5.23	5.23	0.72850	.	0.121563	0.53938	D	0.000044	T	0.77532	0.4144	M	0.82517	2.595	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.81174	-0.1053	10	0.72032	D	0.01	.	16.3165	0.82930	0.0:1.0:0.0:0.0	.	154	O43294	TGFI1_HUMAN	V	154;137;137	ENSP00000378332:A154V;ENSP00000355117:A137V;ENSP00000378327:A137V	ENSP00000355117:A137V	A	+	2	0	TGFB1I1	31393219	1.000000	0.71417	0.965000	0.40720	0.857000	0.48899	6.662000	0.74426	2.430000	0.82344	0.655000	0.94253	GCC		0.577	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255630.3			4	58	0	0	0	1	0	4	58				
MIOS	54468	broad.mit.edu	37	7	7645694	7645694	+	Silent	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:7645694T>C	ENST00000340080.4	+	12	2944	c.2523T>C	c.(2521-2523)agT>agC	p.S841S	MIOS_ENST00000405785.1_Silent_p.S841S	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	841						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATATGCTTAGTTGGTTCAGGT	0.388																																						ENST00000340080.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2521-2523)agT>agC		missing oocyte, meiosis regulator, homolog (Drosophila)							278.0	253.0	261.0					7																	7645694		1964	4158	6122	SO:0001819	synonymous_variant	54468							g.chr7:7645694T>C		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.2523T>C	7.37:g.7645694T>C						MIOS_ENST00000405785.1_Silent_p.S841S	p.S841S	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN			12	2944	+			841					B2RTV6|O75216|Q7L551|Q9H092	Silent	SNP	ENST00000340080.4	37	c.2523T>C	CCDS43554.1																																																																																				0.388	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		47	89	0	0	0	1	0	47	89				
DDX50	79009	broad.mit.edu	37	10	70679687	70679687	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:70679687G>A	ENST00000373585.3	+	8	1296	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	397	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TATTTTCTGTGAGACCAAGAA	0.413																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(1189-1191)Gag>Aag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							116.0	113.0	114.0					10																	70679687		2203	4300	6503	SO:0001583	missense	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70679687G>A	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1189G>A	10.37:g.70679687G>A	ENSP00000362687:p.Glu397Lys					DDX50_ENST00000466265.1_3'UTR	p.E397K	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			8	1296	+			397			Helicase C-terminal.		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	c.1189G>A	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	G	33	5.210784	0.95069	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.04758	3.56	4.4	4.4	0.53042	Helicase, C-terminal (1);	0.045665	0.85682	D	0.000000	T	0.08492	0.0211	N	0.21508	0.67	0.58432	D	0.999997	P	0.51933	0.949	P	0.52957	0.714	T	0.37291	-0.9712	10	0.46703	T	0.11	-10.8147	17.3516	0.87326	0.0:0.0:1.0:0.0	.	397	Q9BQ39	DDX50_HUMAN	K	397	ENSP00000362687:E397K	ENSP00000362687:E397K	E	+	1	0	DDX50	70349693	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.225000	0.95219	2.140000	0.66376	0.484000	0.47621	GAG		0.413	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		16	71	0	0	0	1	0	16	71				
ATP13A2	23400	broad.mit.edu	37	1	17322515	17322515	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:17322515G>A	ENST00000326735.8	-	15	1531	c.1498C>T	c.(1498-1500)Cgc>Tgc	p.R500C	ATP13A2_ENST00000341676.5_Missense_Mutation_p.R495C|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000452699.1_Missense_Mutation_p.R495C			Q9NQ11	AT132_HUMAN	ATPase type 13A2	500					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGGTTGATGCGCAGTGGGTGG	0.662																																						ENST00000452699.1																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1483-1485)Cgc>Tgc		ATPase type 13A2							73.0	74.0	74.0					1																	17322515		2203	4300	6503	SO:0001583	missense	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17322515G>A	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1498C>T	1.37:g.17322515G>A	ENSP00000327214:p.Arg500Cys					ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000326735.8_Missense_Mutation_p.R500C|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.R495C	p.R495C	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	15	1672	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	500					O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	c.1483C>T	CCDS175.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076675	0.76415	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000503552	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	D	0.91727	0.7384	H	0.95224	3.64	0.58432	D	0.999999	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;0.99;0.999;0.999;0.994	D	0.93159	0.6556	10	0.87932	D	0	-20.6683	10.9579	0.47368	0.0:0.0:0.8127:0.1873	.	176;213;495;495;500	Q52PK6;Q6ZP48;Q5JXY1;Q6S9Z9;Q9NQ11	.;.;.;.;AT132_HUMAN	C	500;495;495;59	ENSP00000327214:R500C;ENSP00000341115:R495C;ENSP00000413307:R495C;ENSP00000421126:R59C	ENSP00000327214:R500C	R	-	1	0	ATP13A2	17195102	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	4.563000	0.60823	2.078000	0.62432	0.491000	0.48974	CGC		0.662	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		4	49	0	0	0	1	0	4	49				
VIT	5212	broad.mit.edu	37	2	37035644	37035644	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:37035644G>A	ENST00000389975.3	+	14	1676	c.1374G>A	c.(1372-1374)tcG>tcA	p.S458S	VIT_ENST00000379241.3_Silent_p.S436S|VIT_ENST00000497382.1_Silent_p.S127S|VIT_ENST00000379242.3_Silent_p.S473S|VIT_ENST00000404084.1_Silent_p.S410S|VIT_ENST00000401530.1_Silent_p.S437S	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	458	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GCTTCTACTCGCTCCACGTGC	0.597																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1417-1419)tcG>tcA		vitrin							36.0	32.0	33.0					2																	37035644		2203	4300	6503	SO:0001819	synonymous_variant	5212					proteinaceous extracellular matrix		g.chr2:37035644G>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1374G>A	2.37:g.37035644G>A						VIT_ENST00000497382.1_Silent_p.S127S|VIT_ENST00000404084.1_Silent_p.S410S|VIT_ENST00000389975.3_Silent_p.S458S|VIT_ENST00000379241.3_Silent_p.S436S|VIT_ENST00000401530.1_Silent_p.S437S	p.S473S	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			15	1721	+		all_hematologic(82;0.248)	458			VWFA 1.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Silent	SNP	ENST00000389975.3	37	c.1419G>A	CCDS54347.1																																																																																				0.597	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				11	15	0	0	0	1	0	11	15				
OSBPL5	114879	broad.mit.edu	37	11	3122887	3122887	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:3122887G>A	ENST00000263650.7	-	13	1627	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	OSBPL5_ENST00000389989.3_Missense_Mutation_p.R422W|OSBPL5_ENST00000348039.5_Missense_Mutation_p.R422W|OSBPL5_ENST00000542243.1_Missense_Mutation_p.R121W|OSBPL5_ENST00000525498.1_Missense_Mutation_p.R401W	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	490					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCGTCCTTCCGGTTGCTGACG	0.632																																						ENST00000263650.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1468-1470)Cgg>Tgg		oxysterol binding protein-like 5							67.0	58.0	61.0					11																	3122887		2202	4298	6500	SO:0001583	missense	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3122887G>A	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1468C>T	11.37:g.3122887G>A	ENSP00000263650:p.Arg490Trp					OSBPL5_ENST00000348039.5_Missense_Mutation_p.R422W|OSBPL5_ENST00000542243.1_Missense_Mutation_p.R121W|OSBPL5_ENST00000389989.3_Missense_Mutation_p.R422W|OSBPL5_ENST00000525498.1_Missense_Mutation_p.R401W	p.R490W	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	13	1627	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	490					A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	ENST00000263650.7	37	c.1468C>T	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728011	0.48833	.	.	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000534454;ENST00000525498;ENST00000542243;ENST00000348039;ENST00000357352	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	4.16	0.686	0.18015	.	0.070853	0.53938	D	0.000053	T	0.63546	0.2520	H	0.95224	3.64	0.54753	D	0.999982	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;1.0;1.0;0.998	T	0.73238	-0.4046	10	0.87932	D	0	-8.4015	12.2365	0.54518	0.0:0.0:0.4426:0.5574	.	401;451;422;490	B4DVB0;E7EP03;Q8N596;Q9H0X9	.;.;.;OSBL5_HUMAN	W	490;422;43;401;121;422;109	ENSP00000263650:R490W;ENSP00000374639:R422W;ENSP00000431412:R43W;ENSP00000433342:R401W;ENSP00000441551:R121W;ENSP00000302872:R422W	ENSP00000263650:R490W	R	-	1	2	OSBPL5	3079463	0.998000	0.40836	0.905000	0.35620	0.258000	0.26162	0.852000	0.27764	0.340000	0.23745	0.555000	0.69702	CGG		0.632	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			10	22	0	0	0	1	0	10	22				
CCDC178	374864	broad.mit.edu	37	18	30804860	30804860	+	Missense_Mutation	SNP	C	C	T	rs112779048	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:30804860C>T	ENST00000383096.3	-	17	1879	c.1697G>A	c.(1696-1698)cGg>cAg	p.R566Q	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000583930.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000579947.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000406524.2_Missense_Mutation_p.R566Q|CCDC178_ENST00000403303.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000300227.8_Missense_Mutation_p.R566Q			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	566																	AAGCTCTTTCCGCTCAAGTGC	0.358																																						ENST00000383096.3																			0											c.(1696-1698)cGg>cAg		coiled-coil domain containing 178		C	GLN/ARG,GLN/ARG	0,4404		0,0,2202	82.0	76.0	78.0		1697,1697	-4.8	0.0	18	dbSNP_132	78	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	C18orf34	NM_001105528.1,NM_198995.2	43,43	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	566/868,566/830	30804860	1,13001	2202	4299	6501	SO:0001583	missense	374864							g.chr18:30804860C>T	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1697G>A	18.37:g.30804860C>T	ENSP00000372576:p.Arg566Gln					CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000406524.2_Missense_Mutation_p.R566Q|CCDC178_ENST00000300227.8_Missense_Mutation_p.R566Q|CCDC178_ENST00000402325.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000583930.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000579947.1_Missense_Mutation_p.R566Q	p.R566Q							17	1879	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.1697G>A	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	8.848	0.943916	0.18281	0.0	1.16E-4	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.15603	2.46;2.46;2.42;2.46;2.41	4.48	-4.81	0.03180	.	.	.	.	.	T	0.14313	0.0346	L	0.40543	1.245	0.09310	N	1	D;P;D;D;D	0.59767	0.986;0.953;0.986;0.986;0.986	P;P;P;P;P	0.50590	0.645;0.521;0.645;0.509;0.509	T	0.11446	-1.0587	9	0.10377	T	0.69	-1.1569	7.2143	0.25951	0.1349:0.2403:0.0:0.6248	.	566;566;566;566;566	F8W7A7;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	Q	566	ENSP00000385591:R566Q;ENSP00000372576:R566Q;ENSP00000300227:R566Q;ENSP00000385867:R566Q;ENSP00000385234:R566Q	ENSP00000300227:R566Q	R	-	2	0	C18orf34	29058858	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	-1.389000	0.02530	-1.139000	0.02881	-0.157000	0.13467	CGG		0.358	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		18	21	0	0	0	1	0	18	21				
CMTM1	113540	broad.mit.edu	37	16	66600560	66600560	+	Intron	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:66600560C>T	ENST00000457188.2	+	1	202				CMTM1_ENST00000379500.2_Silent_p.T48T|CMTM1_ENST00000328020.6_Silent_p.T48T|CMTM1_ENST00000529506.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000533953.1_Silent_p.T48T|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000528324.1_Intron	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1						chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CAGCGAAGACCGCACCCCGGA	0.632																																						ENST00000379500.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(142-144)acC>acT		CKLF-like MARVEL transmembrane domain containing 1							69.0	77.0	74.0					16																	66600560		2201	4300	6501	SO:0001627	intron_variant	113540				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66600560C>T	AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"""chemokine-like factor super family 1"", ""chemokine-like factor superfamily 1"""	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.81+63C>T	16.37:g.66600560C>T						CMTM1_ENST00000535705.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000533953.1_Silent_p.T48T|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000457188.2_Intron|CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000328020.6_Silent_p.T48T	p.T48T	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)	1	211	+		Ovarian(137;0.0563)	0			MARVEL.		Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Silent	SNP	ENST00000457188.2	37	c.144C>T	CCDS45503.1																																																																																				0.632	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999		5	55	0	0	0	1	0	5	55				
SH3D19	152503	broad.mit.edu	37	4	152053535	152053535	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:152053535C>T	ENST00000409252.2	-	17	2626	c.1919G>A	c.(1918-1920)aGc>aAc	p.S640N	SH3D19_ENST00000427414.2_Splice_Site_p.S581N|SH3D19_ENST00000424281.1_Splice_Site_p.S581N|SH3D19_ENST00000514152.1_Splice_Site_p.S617N|SH3D19_ENST00000304527.4_Splice_Site_p.S640N|SH3D19_ENST00000409598.4_Splice_Site_p.S617N|SH3D19_ENST00000455740.1_Splice_Site_p.S617N			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	640					cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TACCTTTGTGCCTACATTAAA	0.408																																						ENST00000409598.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20						c.e17-1		SH3 domain containing 19							102.0	88.0	93.0					4																	152053535		2203	4300	6503	SO:0001630	splice_region_variant	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152053535C>T	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.1919-1G>A	4.37:g.152053535C>T						SH3D19_ENST00000304527.4_Splice_Site_p.S640_splice|SH3D19_ENST00000455740.1_Splice_Site_p.S617_splice|SH3D19_ENST00000424281.1_Splice_Site_p.S581_splice|SH3D19_ENST00000409252.2_Splice_Site_p.S640_splice|SH3D19_ENST00000514152.1_Splice_Site_p.S617_splice|SH3D19_ENST00000427414.2_Splice_Site_p.S581_splice	p.S617_splice			Q5HYK7	SH319_HUMAN			17	3017	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	640			SH3 3.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Splice_Site	SNP	ENST00000409252.2	37	c.1849_splice	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740784	0.49151	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.70399	-0.48;0.13;-0.48;-0.47;-0.47;0.13;-0.48	5.07	4.23	0.50019	.	1.129920	0.06599	N	0.753523	T	0.70859	0.3272	M	0.65975	2.015	0.36514	D	0.869758	B;B;B;B	0.25609	0.027;0.074;0.13;0.083	B;B;B;B	0.25884	0.027;0.022;0.064;0.025	T	0.63079	-0.6717	10	0.42905	T	0.14	.	10.9306	0.47215	0.0:0.9142:0.0:0.0858	.	640;617;581;395	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	N	617;640;617;581;581;640;617	ENSP00000387030:S617N;ENSP00000302913:S640N;ENSP00000416708:S617N;ENSP00000404542:S581N;ENSP00000415694:S581N;ENSP00000386848:S640N;ENSP00000423449:S617N	ENSP00000302913:S640N	S	-	2	0	SH3D19	152272985	0.996000	0.38824	0.998000	0.56505	0.993000	0.82548	0.474000	0.22148	1.370000	0.46153	0.655000	0.94253	AGC		0.408	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555	Missense_Mutation	3	25	0	0	0	1	0	3	25				
MCM6	4175	broad.mit.edu	37	2	136605708	136605708	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:136605708G>T	ENST00000264156.2	-	14	2028	c.1968C>A	c.(1966-1968)atC>atA	p.I656I	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	656					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		CCACACGGATGATTGATTTAT	0.393																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(1966-1968)atC>atA		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						166.0	137.0	147.0					2																	136605708		2203	4300	6503	SO:0001819	synonymous_variant	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136605708G>T		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1968C>A	2.37:g.136605708G>T						MCM6_ENST00000492091.1_5'UTR	p.I656I	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	14	2028	-			656					B2R6H2|Q13504|Q99859	Silent	SNP	ENST00000264156.2	37	c.1968C>A	CCDS2179.1																																																																																				0.393	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		5	25	1	0	0.000602214	1	0.000614187	5	25				
SEMA3B	7869	broad.mit.edu	37	3	50312859	50312859	+	RNA	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:50312859G>A	ENST00000418948.1	+	0	1852							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGACGGGGTCGCGTGCACGCG	0.716																																						ENST00000418948.1																			0				central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6								sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B							9.0	12.0	11.0					3																	50312859		1941	4108	6049			7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50312859G>A	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50312859G>A										Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	0	1852	+								Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	RNA	SNP	ENST00000418948.1	37			.	.	.	.	.	.	.	.	.	.	G	14.01	2.407046	0.42715	.	.	ENSG00000012171	ENST00000316347	.	.	.	5.04	1.19	0.21007	.	0.576827	0.19152	N	0.121404	T	0.32823	0.0842	.	.	.	.	.	.	B;B;B;B	0.21147	0.002;0.052;0.002;0.003	B;B;B;B	0.24394	0.002;0.053;0.002;0.009	T	0.28235	-1.0050	7	0.31617	T	0.26	.	7.8419	0.29403	0.4384:0.0:0.5616:0.0	.	539;289;539;540	Q13214-2;Q59FY7;F5H2H7;Q13214	.;.;.;SEM3B_HUMAN	T	539	.	ENSP00000446262:A539T	A	+	1	0	SEMA3B	50287863	0.000000	0.05858	0.002000	0.10522	0.991000	0.79684	-1.129000	0.03244	-0.056000	0.13221	0.462000	0.41574	GCG		0.716	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		5	12	0	0	0	1	0	5	12				
ZBTB2	57621	broad.mit.edu	37	6	151686671	151686671	+	Silent	SNP	G	G	A	rs377600897		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:151686671G>A	ENST00000325144.4	-	3	1670	c.1530C>T	c.(1528-1530)acC>acT	p.T510T		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CTAGTAAGACGGTTTCTTGTT	0.448																																						ENST00000325144.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12						c.(1528-1530)acC>acT		zinc finger and BTB domain containing 2		G		0,4406		0,0,2203	115.0	111.0	113.0		1530	-8.8	0.6	6		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZBTB2	NM_020861.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		510/515	151686671	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151686671G>A	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.1530C>T	6.37:g.151686671G>A							p.T510T	NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	1670	-			510					A8K7C7|Q5SZ81|Q9P245	Silent	SNP	ENST00000325144.4	37	c.1530C>T	CCDS5231.1																																																																																				0.448	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		25	60	0	0	0	1	0	25	60				
FAM73A	374986	broad.mit.edu	37	1	78338708	78338708	+	Missense_Mutation	SNP	C	C	T	rs149790967		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:78338708C>T	ENST00000370791.3	+	15	1615	c.1583C>T	c.(1582-1584)gCc>gTc	p.A528V	FAM73A_ENST00000443751.2_Missense_Mutation_p.A491V	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	528						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GGATTTTTTGCCCATTTTTAT	0.388																																						ENST00000370791.3																			0				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(1582-1584)gCc>gTc		family with sequence similarity 73, member A		C	VAL/ALA	0,4406		0,0,2203	221.0	211.0	214.0		1583	5.8	1.0	1	dbSNP_134	214	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM73A	NM_198549.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	528/633	78338708	1,13005	2203	4300	6503	SO:0001583	missense	374986					integral to membrane		g.chr1:78338708C>T		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1583C>T	1.37:g.78338708C>T	ENSP00000359827:p.Ala528Val					FAM73A_ENST00000443751.2_Missense_Mutation_p.A491V	p.A528V	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	15	1615	+			528					Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	c.1583C>T	CCDS681.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297515	0.95574	0.0	1.16E-4	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.26957	1.7;1.7	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.984;0.984	T	0.53236	-0.8467	10	0.72032	D	0.01	-20.8325	20.0693	0.97712	0.0:1.0:0.0:0.0	.	491;529;528	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	V	528;491	ENSP00000359827:A528V;ENSP00000393675:A491V	ENSP00000359827:A528V	A	+	2	0	FAM73A	78111296	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.317000	0.79018	2.758000	0.94735	0.563000	0.77884	GCC		0.388	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		23	90	0	0	0	1	0	23	90				
CYB561A3	220002	broad.mit.edu	37	11	61120574	61120574	+	Missense_Mutation	SNP	G	G	A	rs201203629	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:61120574G>A	ENST00000294072.4	-	5	1108	c.431C>T	c.(430-432)gCg>gTg	p.A144V	CYB561A3_ENST00000447532.2_Missense_Mutation_p.A144V|CYB561A3_ENST00000546151.1_Missense_Mutation_p.R88C|CYB561A3_ENST00000536915.1_Missense_Mutation_p.A144V|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000426130.2_Missense_Mutation_p.A161V	NM_001161452.1|NM_153611.4	NP_001154924.1|NP_705839.3	Q8NBI2	CYAC3_HUMAN	cytochrome b561 family, member A3	144	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)										CCACATGGACGCCCAGGGCAG	0.557													G|||	2	0.000399361	0.0	0.0014	5008	,	,		19505	0.0		0.001	False		,,,				2504	0.0					ENST00000546151.1																			0											c.(262-264)Cgt>Tgt		cytochrome b561 family, member A3							77.0	59.0	65.0					11																	61120574		2203	4299	6502	SO:0001583	missense	220002							g.chr11:61120574G>A	AK024953	CCDS8004.1, CCDS53639.1, CCDS73296.1	11q12.2	2013-03-14	2013-03-14	2013-03-14		ENSG00000162144		"""Cytochrome b genes"""	23014	protein-coding gene	gene with protein product			"""cytochrome b, ascorbate dependent 3"""	CYBASC3		23249217	Standard	NM_153611		Approved		uc001nrf.4	Q8NBI2		ENST00000294072.4:c.431C>T	11.37:g.61120574G>A	ENSP00000294072:p.Ala144Val					CYB561A3_ENST00000426130.2_Missense_Mutation_p.A161V|CYB561A3_ENST00000294072.4_Missense_Mutation_p.A144V|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000447532.2_Missense_Mutation_p.A144V|CYB561A3_ENST00000536915.1_Missense_Mutation_p.A144V|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000539890.1_Intron	p.R88C							5	530	-								B3KPU2|B4DLN9|J3KQH4|Q6PK96	Missense_Mutation	SNP	ENST00000294072.4	37	c.262C>T	CCDS8004.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	29.2|29.2	4.983947|4.983947	0.93044|0.93044	.|.	.|.	ENSG00000162144|ENSG00000162144	ENST00000426130;ENST00000294072;ENST00000447532;ENST00000536915;ENST00000540139;ENST00000542361;ENST00000537364|ENST00000546151	T;T;T;T;T;T;T|.	0.44083|.	0.93;0.93;0.93;0.93;0.93;0.93;0.93|.	6.02|6.02	5.09|5.09	0.68999|0.68999	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);|.	0.356469|.	0.32819|.	N|.	0.005613|.	T|T	0.64605|0.64605	0.2613|0.2613	L|L	0.54965|0.54965	1.715|1.715	0.38926|0.38926	D|D	0.957846|0.957846	D;D;D|.	0.58268|.	0.982;0.961;0.982|.	P;B;P|.	0.51777|.	0.679;0.418;0.679|.	T|T	0.69228|0.69228	-0.5200|-0.5200	10|6	0.44086|0.62326	T|D	0.13|0.03	-8.3316|-8.3316	12.7844|12.7844	0.57496|0.57496	0.078:0.0:0.922:0.0|0.078:0.0:0.922:0.0	.|.	161;144;144|.	B4DLN9;F5H1Q2;Q8NBI2|.	.;.;CYAC3_HUMAN|.	V|C	161;144;144;144;56;144;144|88	ENSP00000398979:A161V;ENSP00000294072:A144V;ENSP00000389745:A144V;ENSP00000437390:A144V;ENSP00000441085:A56V;ENSP00000443321:A144V;ENSP00000438725:A144V|.	ENSP00000294072:A144V|ENSP00000441834:R88C	A|R	-|-	2|1	0|0	CYBASC3|CYBASC3	60877150|60877150	1.000000|1.000000	0.71417|0.71417	0.891000|0.891000	0.34965|0.34965	0.988000|0.988000	0.76386|0.76386	6.050000|6.050000	0.71063|0.71063	1.495000|1.495000	0.48549|0.48549	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.557	CYB561A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398714.2	NM_153611		11	12	0	0	0	1	0	11	12				
GP9	2815	broad.mit.edu	37	3	128780917	128780917	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:128780917G>A	ENST00000307395.4	+	3	557	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	112	LRRCT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CTGCAGGTCCGCTGTGCCAGC	0.706																																						ENST00000307395.4																			0				NS(1)|central_nervous_system(1)|lung(4)	6						c.(334-336)cGc>cAc		glycoprotein IX (platelet)	Quinine(DB00468)						12.0	13.0	12.0					3																	128780917		2190	4276	6466	SO:0001583	missense	2815				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding	g.chr3:128780917G>A		CCDS3055.1	3q21.3	2014-09-17				ENSG00000169704		"""CD molecules"""	4444	protein-coding gene	gene with protein product		173515				2253772	Standard	XM_005247374		Approved	CD42a, GPIX	uc003elm.2	P14770		ENST00000307395.4:c.335G>A	3.37:g.128780917G>A	ENSP00000303942:p.Arg112His						p.R112H	NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN			3	557	+			112			LRRCT.		Q14445|Q8N1D1|Q92525	Missense_Mutation	SNP	ENST00000307395.4	37	c.335G>A	CCDS3055.1	.	.	.	.	.	.	.	.	.	.	G	8.900	0.956218	0.18507	.	.	ENSG00000169704	ENST00000307395	D	0.90133	-2.62	4.17	-4.43	0.03568	Cysteine-rich flanking region, C-terminal (1);	0.614078	0.13039	N	0.418665	D	0.85248	0.5653	M	0.82823	2.61	0.09310	N	1	B	0.28439	0.212	B	0.17433	0.018	T	0.72418	-0.4300	10	0.41790	T	0.15	-5.6374	1.0797	0.01640	0.4468:0.1227:0.1829:0.2476	.	112	P14770	GPIX_HUMAN	H	112	ENSP00000303942:R112H	ENSP00000303942:R112H	R	+	2	0	GP9	130263607	0.000000	0.05858	0.002000	0.10522	0.109000	0.19521	-1.039000	0.03550	-0.948000	0.03668	0.462000	0.41574	CGC		0.706	GP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358428.1			3	13	0	0	0	1	0	3	13				
COL27A1	85301	broad.mit.edu	37	9	116930357	116930357	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:116930357C>T	ENST00000356083.3	+	3	913	c.522C>T	c.(520-522)tgC>tgT	p.C174C		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	174	Laminin G-like.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGACTGCCTGCGGGCAGCGCC	0.682																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(520-522)tgC>tgT		collagen, type XXVII, alpha 1							18.0	20.0	19.0					9																	116930357		2186	4277	6463	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116930357C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.522C>T	9.37:g.116930357C>T							p.C174C	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			3	913	+			174			Laminin G-like.|TSP N-terminal.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.522C>T	CCDS6802.1																																																																																				0.682	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		10	27	0	0	0	1	0	10	27				
COTL1	23406	broad.mit.edu	37	16	84600556	84600556	+	Silent	SNP	G	G	A	rs577103781		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:84600556G>A	ENST00000262428.4	-	4	486	c.324C>T	c.(322-324)ttC>ttT	p.F108F	COTL1_ENST00000564057.1_Silent_p.F39F|COTL1_ENST00000567278.1_5'UTR	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1	108	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)	p.F108F(1)		endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						ACTCCTTAGCGAAATTCTGCA	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19671	0.0		0.0	False		,,,				2504	0.0					ENST00000262428.4																			1	Substitution - coding silent(1)	p.F108F(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						c.(322-324)ttC>ttT		coactosin-like 1 (Dictyostelium)							80.0	79.0	79.0					16																	84600556		2199	4300	6499	SO:0001819	synonymous_variant	23406					cytoplasm|cytoskeleton	actin binding|enzyme binding	g.chr16:84600556G>A	L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"""coactosin-like 1 (Dictyostelium)"""			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.324C>T	16.37:g.84600556G>A						COTL1_ENST00000564057.1_Silent_p.F39F|COTL1_ENST00000567278.1_5'UTR	p.F108F	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN			4	486	-			108			ADF-H.		B2RDU3|D3DUL9|Q86XM5	Silent	SNP	ENST00000262428.4	37	c.324C>T	CCDS10947.1																																																																																				0.512	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269075.1	NM_021149		12	36	0	0	0	1	0	12	36				
KMT2D	8085	broad.mit.edu	37	12	49445333	49445333	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:49445333C>T	ENST00000301067.7	-	10	2132	c.2133G>A	c.(2131-2133)ccG>ccA	p.P711P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	711	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	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)										GCGAGTCCTCCGGTGGTGGGG	0.677																																						ENST00000301067.7																			0											c.(2131-2133)ccG>ccA		lysine (K)-specific methyltransferase 2D							44.0	52.0	49.0					12																	49445333		2039	4188	6227	SO:0001819	synonymous_variant	8085							g.chr12:49445333C>T	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.2133G>A	12.37:g.49445333C>T							p.P711P	NM_003482.3	NP_003473.3					10	2132	-								O14687	Silent	SNP	ENST00000301067.7	37	c.2133G>A	CCDS44873.1																																																																																				0.677	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			22	50	0	0	0	1	0	22	50				
PCDHGA2	56113	broad.mit.edu	37	5	140719302	140719302	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140719302C>T	ENST00000394576.2	+	1	764	c.764C>T	c.(763-765)aCg>aTg	p.T255M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	255	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGAGAATACGCTCGTGGGC	0.547																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(763-765)aCg>aTg									72.0	77.0	75.0					5																	140719302		2203	4299	6502	SO:0001583	missense	0							g.chr5:140719302C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.764C>T	5.37:g.140719302C>T	ENSP00000378077:p.Thr255Met					PCDHGA1_ENST00000517417.1_Intron	p.T255M	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	764	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.764C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	3.038	-0.198138	0.06219	.	.	ENSG00000081853	ENST00000394576	T	0.01804	4.63	5.26	-3.98	0.04082	Cadherin (4);Cadherin-like (1);	1.869310	0.03197	N	0.174228	T	0.01940	0.0061	L	0.33710	1.025	0.09310	N	1	B;B	0.16166	0.012;0.016	B;B	0.20184	0.016;0.028	T	0.47222	-0.9134	10	0.51188	T	0.08	.	6.4089	0.21680	0.1115:0.359:0.0:0.5294	.	255;255	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	M	255	ENSP00000378077:T255M	ENSP00000378077:T255M	T	+	2	0	PCDHGA2	140699486	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.545000	0.06069	-0.895000	0.03920	-0.793000	0.03317	ACG		0.547	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		13	91	0	0	0	1	0	13	91				
INHA	3623	broad.mit.edu	37	2	220439863	220439863	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:220439863G>A	ENST00000243786.2	+	2	896	c.716G>A	c.(715-717)tGg>tAg	p.W239*		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	239					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGATGTCCTGGCCTTGGTCT	0.657																																						ENST00000243786.2																			0				large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(715-717)tGg>tAg		inhibin, alpha							51.0	55.0	54.0					2																	220439863		2203	4300	6503	SO:0001587	stop_gained	3623				cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity	g.chr2:220439863G>A		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.716G>A	2.37:g.220439863G>A	ENSP00000243786:p.Trp239*						p.W239*	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	896	+		Renal(207;0.0183)	239					A8K8H5	Nonsense_Mutation	SNP	ENST00000243786.2	37	c.716G>A	CCDS2444.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563888	0.86335	.	.	ENSG00000123999	ENST00000243786	.	.	.	5.48	2.7	0.31948	.	0.694155	0.13819	N	0.360564	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.3149	5.3078	0.15813	0.1563:0.0:0.5373:0.3064	.	.	.	.	X	239	.	.	W	+	2	0	INHA	220148107	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	3.243000	0.51392	0.674000	0.31244	-0.310000	0.09108	TGG		0.657	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1			18	45	0	0	0	1	0	18	45				
HIC1	3090	broad.mit.edu	37	17	1961548	1961548	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:1961548G>A	ENST00000322941.3	+	2	1621	c.1621G>A	c.(1621-1623)Ggg>Agg	p.G541R	SMG6_ENST00000573166.1_5'Flank|HIC1_ENST00000399849.3_Missense_Mutation_p.G522R	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	541					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		CACCATCTGCGGGAAGAAGTT	0.682																																						ENST00000399849.2																			0				large_intestine(1)|lung(1)|prostate(1)	3						c.(1564-1566)Ggg>Agg		hypermethylated in cancer 1							21.0	23.0	22.0					17																	1961548		2198	4295	6493	SO:0001583	missense	3090				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:1961548G>A		CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.1621G>A	17.37:g.1961548G>A	ENSP00000314080:p.Gly541Arg					HIC1_ENST00000322941.3_Missense_Mutation_p.G541R	p.G522R	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN		READ - Rectum adenocarcinoma(1115;0.236)	2	1724	+			541					D3DTI4	Missense_Mutation	SNP	ENST00000322941.3	37	c.1564G>A	CCDS42229.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347433	0.82022	.	.	ENSG00000177374	ENST00000399849;ENST00000322941	T;T	0.03524	3.9;3.9	3.97	3.97	0.46021	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18593	0.0446	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01330	-1.1383	9	0.87932	D	0	.	16.1856	0.81948	0.0:0.0:1.0:0.0	.	541	Q14526	HIC1_HUMAN	R	522;541	ENSP00000382742:G522R;ENSP00000314080:G541R	ENSP00000314080:G541R	G	+	1	0	HIC1	1908298	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.307000	0.96226	2.226000	0.72624	0.511000	0.50034	GGG		0.682	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438878.1	NM_006497		6	13	0	0	0	1	0	6	13				
POLR2B	5431	broad.mit.edu	37	4	57876617	57876617	+	Silent	SNP	A	A	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:57876617A>C	ENST00000381227.1	+	12	1908	c.1495A>C	c.(1495-1497)Aga>Cga	p.R499R	POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000431623.2_Silent_p.R424R|POLR2B_ENST00000314595.5_Silent_p.R499R|POLR2B_ENST00000441246.2_Silent_p.R492R			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	499					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AGCAAAACCAAGACAGTTGCA	0.428																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(1495-1497)Aga>Cga		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							127.0	128.0	128.0					4																	57876617		2203	4300	6503	SO:0001819	synonymous_variant	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57876617A>C		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1495A>C	4.37:g.57876617A>C						POLR2B_ENST00000441246.2_Silent_p.R492R|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000431623.2_Silent_p.R424R|POLR2B_ENST00000314595.5_Silent_p.R499R	p.R499R			P30876	RPB2_HUMAN			12	1908	+	Glioma(25;0.08)|all_neural(26;0.181)		499					A8K1A8|Q8IZ61	Silent	SNP	ENST00000381227.1	37	c.1495A>C	CCDS3511.1																																																																																				0.428	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		32	58	0	0	0	1	0	32	58				
USP6NL	9712	broad.mit.edu	37	10	11505706	11505706	+	Silent	SNP	C	C	T	rs577831766		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:11505706C>T	ENST00000609104.1	-	15	1615	c.1221G>A	c.(1219-1221)gcG>gcA	p.A407A	USP6NL_ENST00000277575.5_Silent_p.A424A|USP6NL_ENST00000379237.2_Silent_p.A430A	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	407					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TCCTGTGGGGCGCCCCGCTCT	0.692													C|||	1	0.000199681	0.0	0.0014	5008	,	,		12444	0.0		0.0	False		,,,				2504	0.0					ENST00000379237.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1219-1221)gcG>gcA		USP6 N-terminal like							25.0	27.0	27.0					10																	11505706		1919	4107	6026	SO:0001819	synonymous_variant	9712					intracellular	Rab GTPase activator activity	g.chr10:11505706C>T	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1221G>A	10.37:g.11505706C>T						USP6NL_ENST00000277575.5_Silent_p.A424A	p.A407A	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN			15	1615	-			407					A8KA79|Q15400|Q5VV10|Q7L0K9	Silent	SNP	ENST00000609104.1	37	c.1221G>A	CCDS53492.1																																																																																				0.692	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		7	25	0	0	0	1	0	7	25				
KRT31	3881	broad.mit.edu	37	17	39551745	39551745	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:39551745C>T	ENST00000251645.2	-	4	771	c.719G>A	c.(718-720)cGc>cAc	p.R240H		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	240	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CACTTCCCTGCGGTTGGTTTC	0.632																																						ENST00000251645.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(718-720)cGc>cAc		keratin 31							108.0	98.0	102.0					17																	39551745		2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39551745C>T	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.719G>A	17.37:g.39551745C>T	ENSP00000251645:p.Arg240His						p.R240H	NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN			4	771	-		Breast(137;0.000496)	240			Coil 2.|Rod.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.719G>A	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	c	19.71	3.878813	0.72294	.	.	ENSG00000094796	ENST00000251645	D	0.90004	-2.6	5.4	3.39	0.38822	Filament (1);	0.000000	0.64402	D	0.000006	D	0.93808	0.8020	M	0.83483	2.645	0.32462	N	0.543934	D	0.89917	1.0	D	0.87578	0.998	D	0.94073	0.7337	10	0.56958	D	0.05	.	11.2648	0.49104	0.0:0.8507:0.0:0.1493	.	240	Q15323	K1H1_HUMAN	H	240	ENSP00000251645:R240H	ENSP00000251645:R240H	R	-	2	0	KRT31	36805271	0.351000	0.24887	1.000000	0.80357	0.960000	0.62799	0.953000	0.29162	0.632000	0.30432	0.563000	0.77884	CGC		0.632	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		23	57	0	0	0	1	0	23	57				
PABPC3	5042	broad.mit.edu	37	13	25672097	25672097	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:25672097A>G	ENST00000281589.3	+	1	1798	c.1761A>G	c.(1759-1761)gaA>gaG	p.E587E		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	587	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ATAATTCAGAACTTCTTTATA	0.448																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1759-1761)gaA>gaG		poly(A) binding protein, cytoplasmic 3							126.0	124.0	125.0					13																	25672097		2203	4300	6503	SO:0001819	synonymous_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25672097A>G	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1761A>G	13.37:g.25672097A>G							p.E587E	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1798	+		Lung SC(185;0.0225)|Breast(139;0.0602)	587			PABC.		Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	c.1761A>G	CCDS9311.1																																																																																				0.448	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		6	109	0	0	0	1	0	6	109				
DDX60L	91351	broad.mit.edu	37	4	169340497	169340497	+	Missense_Mutation	SNP	G	G	A	rs570199575		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:169340497G>A	ENST00000511577.1	-	19	2813	c.2566C>T	c.(2566-2568)Cgc>Tgc	p.R856C	DDX60L_ENST00000260184.7_Missense_Mutation_p.R856C|DDX60L_ENST00000505890.1_Missense_Mutation_p.R856C			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	856	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CATTTTTGGCGATGAGGAGCA	0.363																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2566-2568)Cgc>Tgc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							60.0	60.0	60.0					4																	169340497		2192	4300	6492	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169340497G>A	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2566C>T	4.37:g.169340497G>A	ENSP00000422423:p.Arg856Cys					DDX60L_ENST00000505890.1_Missense_Mutation_p.R856C|DDX60L_ENST00000260184.7_Missense_Mutation_p.R856C	p.R856C			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	19	2813	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	856			Helicase ATP-binding.		Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.2566C>T		.	.	.	.	.	.	.	.	.	.	G	12.73	2.026632	0.35797	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890	T;T;T	0.72167	-0.63;-0.63;2.4	3.49	-0.182	0.13287	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.393779	0.18245	N	0.147129	T	0.58878	0.2153	M	0.64997	1.995	0.23023	N	0.998413	B;B	0.31227	0.103;0.314	B;B	0.28139	0.058;0.086	T	0.48103	-0.9064	10	0.39692	T	0.17	.	4.2202	0.10554	0.2143:0.0:0.4977:0.288	.	856;856	D6R906;Q5H9U9	.;DDX6L_HUMAN	C	856	ENSP00000260184:R856C;ENSP00000422423:R856C;ENSP00000422202:R856C	ENSP00000260184:R856C	R	-	1	0	DDX60L	169577072	0.136000	0.22515	0.001000	0.08648	0.675000	0.39556	0.338000	0.19858	-0.419000	0.07439	0.467000	0.42956	CGC		0.363	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		5	2	0	0	0	1	0	5	2				
AGAP6	414189	broad.mit.edu	37	10	51748529	51748529	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:51748529C>T	ENST00000374056.4	+	1	452	c.54C>T	c.(52-54)gaC>gaT	p.D18D	AGAP6_ENST00000412531.3_Silent_p.D18D			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	18					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						TCGAGTTTGACCAGCAGCAGG	0.607																																						ENST00000374056.4																			0				NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(52-54)gaC>gaT		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6																																				SO:0001819	synonymous_variant	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51748529C>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.54C>T	10.37:g.51748529C>T						AGAP6_ENST00000412531.3_Silent_p.D18D	p.D18D			C9IYN2	C9IYN2_HUMAN			1	452	+			18						Silent	SNP	ENST00000374056.4	37	c.54C>T																																																																																					0.607	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		15	17	0	0	0	1	0	15	17				
OR2M2	391194	broad.mit.edu	37	1	248343968	248343968	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:248343968C>T	ENST00000359682.2	+	1	681	c.681C>T	c.(679-681)caC>caT	p.H227H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGTCATTCACATGGGATCTG	0.433																																						ENST00000359682.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(679-681)caC>caT		olfactory receptor, family 2, subfamily M, member 2							178.0	161.0	167.0					1																	248343968		2202	4296	6498	SO:0001819	synonymous_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343968C>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.681C>T	1.37:g.248343968C>T							p.H227H	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	681	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		227					A3KFT4	Silent	SNP	ENST00000359682.2	37	c.681C>T	CCDS31106.1																																																																																				0.433	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		9	167	0	0	0	1	0	9	167				
SPHK2	56848	broad.mit.edu	37	19	49132872	49132872	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:49132872G>A	ENST00000245222.4	+	7	2173	c.1807G>A	c.(1807-1809)Gcc>Acc	p.A603T	SPHK2_ENST00000599029.1_Missense_Mutation_p.A567T|SPHK2_ENST00000599748.1_Missense_Mutation_p.A567T|SPHK2_ENST00000340932.3_Missense_Mutation_p.A565T|SPHK2_ENST00000443164.1_Missense_Mutation_p.A665T|SPHK2_ENST00000600537.1_Missense_Mutation_p.A544T|SPHK2_ENST00000598088.1_Missense_Mutation_p.A603T	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	603					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GCTGGGCTACGCCGCGGCCCG	0.682																																						ENST00000443164.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(1993-1995)Gcc>Acc		sphingosine kinase 2							18.0	16.0	16.0					19																	49132872		2198	4294	6492	SO:0001583	missense	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49132872G>A	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1807G>A	19.37:g.49132872G>A	ENSP00000245222:p.Ala603Thr					SPHK2_ENST00000599748.1_Missense_Mutation_p.A567T|SPHK2_ENST00000599029.1_Missense_Mutation_p.A567T|SPHK2_ENST00000600537.1_Missense_Mutation_p.A544T|SPHK2_ENST00000340932.3_Missense_Mutation_p.A565T|SPHK2_ENST00000245222.4_Missense_Mutation_p.A603T|SPHK2_ENST00000598088.1_Missense_Mutation_p.A603T	p.A665T			Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	5	2698	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	603					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	c.1993G>A	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523383	0.64747	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	T;T;T	0.14266	2.52;2.52;2.52	4.78	4.78	0.61160	.	0.202406	0.43110	D	0.000620	T	0.07324	0.0185	N	0.14661	0.345	0.31224	N	0.697141	D;P;D	0.57571	0.98;0.87;0.964	B;B;B	0.39217	0.294;0.226;0.175	T	0.04930	-1.0917	10	0.49607	T	0.09	-34.4714	9.1479	0.36944	0.0983:0.0:0.9017:0.0	.	544;665;603	B4DU87;A0T4C8;Q9NRA0	.;.;SPHK2_HUMAN	T	603;576;565;665	ENSP00000245222:A603T;ENSP00000341091:A565T;ENSP00000413369:A665T	ENSP00000245222:A603T	A	+	1	0	SPHK2	53824684	0.999000	0.42202	0.843000	0.33291	0.992000	0.81027	3.614000	0.54160	2.653000	0.90120	0.555000	0.69702	GCC		0.682	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			3	7	0	0	0	1	0	3	7				
SFSWAP	6433	broad.mit.edu	37	12	132212946	132212946	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:132212946C>T	ENST00000261674.4	+	7	1195	c.1054C>T	c.(1054-1056)Ccc>Tcc	p.P352S	SFSWAP_ENST00000541286.1_Missense_Mutation_p.P352S	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	352					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GCCTGTGCAGCCCTCCCAGGT	0.587																																						ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(1054-1056)Ccc>Tcc		splicing factor, suppressor of white-apricot homolog (Drosophila)							132.0	102.0	112.0					12																	132212946		2203	4300	6503	SO:0001583	missense	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132212946C>T	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1054C>T	12.37:g.132212946C>T	ENSP00000261674:p.Pro352Ser					SFSWAP_ENST00000541286.1_Missense_Mutation_p.P352S	p.P352S	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			7	1195	+			352					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	c.1054C>T	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.221394	0.39300	.	.	ENSG00000061936	ENST00000261674;ENST00000544623;ENST00000535236;ENST00000541286	T;T;T	0.23147	2.92;1.92;2.95	5.61	2.29	0.28610	.	0.316148	0.37437	N	0.002097	T	0.14313	0.0346	L	0.36672	1.1	0.39575	D	0.969345	B;B;B	0.23058	0.079;0.047;0.002	B;B;B	0.17722	0.019;0.009;0.003	T	0.08722	-1.0708	10	0.16896	T	0.51	-21.5046	3.5968	0.08009	0.4568:0.3423:0.1164:0.0846	.	352;352;289	F5H6B8;Q12872;F5H525	.;SFSWA_HUMAN;.	S	352;289;145;352	ENSP00000261674:P352S;ENSP00000443045:P145S;ENSP00000437738:P352S	ENSP00000261674:P352S	P	+	1	0	SFSWAP	130778899	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.849000	0.27723	1.339000	0.45563	0.655000	0.94253	CCC		0.587	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		23	25	0	0	0	1	0	23	25				
OVOL2	58495	broad.mit.edu	37	20	18005394	18005394	+	Silent	SNP	C	C	T	rs376394167		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:18005394C>T	ENST00000278780.6	-	4	956	c.714G>A	c.(712-714)ccG>ccA	p.P238P	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	238					angiogenesis (GO:0001525)|dorsal/ventral pattern formation (GO:0009953)|embryonic digestive tract morphogenesis (GO:0048557)|endocardium formation (GO:0060214)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of keratinocyte proliferation (GO:0010837)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ACGAGCTGCCCGGATGGGCAC	0.582																																						ENST00000278780.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						c.(712-714)ccG>ccA		ovo-like zinc finger 2		C		0,4406		0,0,2203	90.0	82.0	85.0		714	-5.9	0.9	20		85	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OVOL2	NM_021220.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		238/276	18005394	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	58495				negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:18005394C>T	AK022284	CCDS13132.1	20p11.23	2013-10-17	2013-10-17	2005-05-31	ENSG00000125850	ENSG00000125850		"""Zinc fingers, C2H2-type"""	15804	protein-coding gene	gene with protein product			"""zinc finger protein 339"", ""ovo-like 2 (Drosophila)"""	ZNF339			Standard	NM_021220		Approved	bA504H3.3, HOVO2	uc002wqi.1	Q9BRP0	OTTHUMG00000031960	ENST00000278780.6:c.714G>A	20.37:g.18005394C>T						OVOL2_ENST00000483661.1_5'UTR	p.P238P	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN			4	956	-			238					Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0	Silent	SNP	ENST00000278780.6	37	c.714G>A	CCDS13132.1																																																																																				0.582	OVOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078148.5	NM_021220		11	24	0	0	0	1	0	11	24				
LIMD2	80774	broad.mit.edu	37	17	61776417	61776417	+	Missense_Mutation	SNP	C	C	T	rs199625729		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:61776417C>T	ENST00000259006.3	-	3	213	c.55G>A	c.(55-57)Ggc>Agc	p.G19S	LIMD2_ENST00000582055.1_5'UTR|LIMD2_ENST00000578402.1_Missense_Mutation_p.G19S|LIMD2_ENST00000578993.1_Missense_Mutation_p.G19S|LIMD2_ENST00000578061.1_Missense_Mutation_p.G19S|LIMD2_ENST00000583211.1_5'UTR	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	19							zinc ion binding (GO:0008270)			kidney(1)|lung(2)	3						CTGCTGCCGCCGCCTTTGGCG	0.736													C|||	1	0.000199681	0.0	0.0	5008	,	,		10980	0.0		0.001	False		,,,				2504	0.0					ENST00000259006.3																			0				kidney(1)|lung(2)	3						c.(55-57)Ggc>Agc		LIM domain containing 2		C	SER/GLY	1,4277		0,1,2138	9.0	12.0	11.0		55	-4.9	0.1	17		11	12,8396		0,12,4192	no	missense	LIMD2	NM_030576.3	56	0,13,6330	TT,TC,CC		0.1427,0.0234,0.1025	benign	19/128	61776417	13,12673	2139	4204	6343	SO:0001583	missense	80774						zinc ion binding	g.chr17:61776417C>T	AK092301	CCDS11641.1	17q23.3	2006-02-03				ENSG00000136490			28142	protein-coding gene	gene with protein product						12477932	Standard	NM_030576		Approved	MGC10986	uc002jbj.4	Q9BT23		ENST00000259006.3:c.55G>A	17.37:g.61776417C>T	ENSP00000259006:p.Gly19Ser					LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000582055.1_5'UTR|LIMD2_ENST00000578061.1_Missense_Mutation_p.G19S|LIMD2_ENST00000578402.1_Missense_Mutation_p.G19S|LIMD2_ENST00000578993.1_Missense_Mutation_p.G19S	p.G19S	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN			3	213	-			19					D3DU16|Q96S91	Missense_Mutation	SNP	ENST00000259006.3	37	c.55G>A	CCDS11641.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.041	-1.283506	0.01398	2.34E-4	0.001427	ENSG00000136490	ENST00000259006	T	0.75367	-0.93	4.33	-4.88	0.03113	.	0.543405	0.17516	N	0.171426	T	0.37571	0.1008	N	0.01874	-0.695	0.49915	D	0.999837	B	0.06786	0.001	B	0.01281	0.0	T	0.42413	-0.9453	10	0.02654	T	1	-15.4788	11.5615	0.50780	0.0:0.2608:0.0:0.7392	.	19	Q9BT23	LIMD2_HUMAN	S	19	ENSP00000259006:G19S	ENSP00000259006:G19S	G	-	1	0	LIMD2	59130149	0.000000	0.05858	0.073000	0.20177	0.373000	0.29922	-0.162000	0.10012	-1.171000	0.02765	-0.448000	0.05591	GGC		0.736	LIMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443877.1	NM_030576		3	16	0	0	0	1	0	3	16				
AKAP12	9590	broad.mit.edu	37	6	151673127	151673127	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:151673127G>A	ENST00000253332.1	+	3	3790	c.3601G>A	c.(3601-3603)Gca>Aca	p.A1201T	AKAP12_ENST00000359755.5_Missense_Mutation_p.A1096T|AKAP12_ENST00000402676.2_Missense_Mutation_p.A1201T|AKAP12_ENST00000354675.6_Missense_Mutation_p.A1103T			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1201					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAATGAGGTCGCATCTGGTAC	0.532																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(3601-3603)Gca>Aca		A kinase (PRKA) anchor protein 12							76.0	74.0	74.0					6																	151673127		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151673127G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3601G>A	6.37:g.151673127G>A	ENSP00000253332:p.Ala1201Thr					AKAP12_ENST00000359755.5_Missense_Mutation_p.A1096T|AKAP12_ENST00000354675.6_Missense_Mutation_p.A1103T|AKAP12_ENST00000253332.1_Missense_Mutation_p.A1201T	p.A1201T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	3841	+		Ovarian(120;0.125)	1201					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.3601G>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626944	0.66901	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.10573	2.86;2.86;2.89;2.89	5.08	3.27	0.37495	.	0.701912	0.11757	N	0.532518	T	0.02012	0.0063	L	0.34521	1.04	0.09310	N	1	B;B;B	0.32203	0.36;0.36;0.246	B;B;B	0.24155	0.051;0.051;0.023	T	0.46693	-0.9173	10	0.16896	T	0.51	.	7.5948	0.28041	0.1541:0.1464:0.6995:0.0	.	1096;1103;1201	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	T	1201;1201;1103;1096	ENSP00000384537:A1201T;ENSP00000253332:A1201T;ENSP00000346702:A1103T;ENSP00000352794:A1096T	ENSP00000253332:A1201T	A	+	1	0	AKAP12	151714820	0.007000	0.16637	0.000000	0.03702	0.358000	0.29455	1.513000	0.35823	0.518000	0.28383	0.455000	0.32223	GCA		0.532	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			5	75	0	0	0	1	0	5	75				
REC8	9985	broad.mit.edu	37	14	24642164	24642164	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:24642164C>T	ENST00000311457.3	+	4	781	c.182C>T	c.(181-183)cCg>cTg	p.P61L	REC8_ENST00000559919.1_Missense_Mutation_p.P61L			O95072	REC8_HUMAN	REC8 meiotic recombination protein	61					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CCCGGCCTGCCGCGGCCCCGC	0.602																																					NSCLC(139;1764 2537 12868 49041)	ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(181-183)cCg>cTg		REC8 meiotic recombination protein							55.0	65.0	61.0					14																	24642164		1972	4129	6101	SO:0001583	missense	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24642164C>T	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"""REC8-like 1 (yeast)"", ""REC8 homolog (yeast)"""	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.182C>T	14.37:g.24642164C>T	ENSP00000308699:p.Pro61Leu					REC8_ENST00000559919.1_Missense_Mutation_p.P61L	p.P61L			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	4	781	+			61					A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Missense_Mutation	SNP	ENST00000311457.3	37	c.182C>T	CCDS41932.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704779	0.88924	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	T	0.35973	1.28	5.39	3.56	0.40772	Rad21/Rec8-like protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61527	0.2354	M	0.88775	2.98	0.58432	D	0.999996	D;D	0.89917	0.996;1.0	D;D	0.85130	0.987;0.997	T	0.63193	-0.6692	10	0.87932	D	0	-22.4585	7.8783	0.29608	0.1596:0.7572:0.0:0.0832	.	61;61	O95072-2;O95072	.;REC8_HUMAN	L	61	ENSP00000308699:P61L	ENSP00000308699:P61L	P	+	2	0	REC8	23712004	1.000000	0.71417	0.926000	0.36857	0.970000	0.65996	5.897000	0.69831	0.628000	0.30357	0.561000	0.74099	CCG		0.602	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	NM_005132		28	48	0	0	0	1	0	28	48				
TRIM62	55223	broad.mit.edu	37	1	33625513	33625513	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:33625513G>A	ENST00000291416.5	-	3	770	c.537C>T	c.(535-537)ggC>ggT	p.G179G	TRIM62_ENST00000543586.1_Silent_p.G58G|TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	179					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				CGAAGGCCTCGCCGATAGTGG	0.657																																						ENST00000291416.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(535-537)ggC>ggT		tripartite motif containing 62							31.0	35.0	34.0					1																	33625513		2202	4300	6502	SO:0001819	synonymous_variant	55223					intracellular	zinc ion binding	g.chr1:33625513G>A	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.537C>T	1.37:g.33625513G>A						TRIM62_ENST00000485148.1_5'UTR|TRIM62_ENST00000543586.1_Silent_p.G58G	p.G179G	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN			3	770	-		Myeloproliferative disorder(586;0.0393)	179					B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Silent	SNP	ENST00000291416.5	37	c.537C>T	CCDS376.1																																																																																				0.657	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		5	28	0	0	0	1	0	5	28				
ZNF71	58491	broad.mit.edu	37	19	57133248	57133248	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:57133248G>A	ENST00000328070.6	+	3	827	c.593G>A	c.(592-594)cGc>cAc	p.R198H		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TTCAGCCAGCGCATGAACCTC	0.637																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(592-594)cGc>cAc		zinc finger protein 71							49.0	44.0	46.0					19																	57133248		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133248G>A	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.593G>A	19.37:g.57133248G>A	ENSP00000328245:p.Arg198His						p.R198H	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	827	+			198					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.593G>A	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499598	0.26861	.	.	ENSG00000197951	ENST00000328070	T	0.08370	3.1	3.47	3.47	0.39725	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04770	0.0129	N	0.13168	0.305	0.09310	N	1	D	0.60575	0.988	B	0.40565	0.333	T	0.35943	-0.9768	9	0.30854	T	0.27	.	8.0101	0.30349	0.1159:0.0:0.8841:0.0	.	198	Q9NQZ8	ZNF71_HUMAN	H	198	ENSP00000328245:R198H	ENSP00000328245:R198H	R	+	2	0	ZNF71	61825060	0.000000	0.05858	1.000000	0.80357	0.982000	0.71751	0.031000	0.13710	1.777000	0.52277	0.561000	0.74099	CGC		0.637	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		19	41	0	0	0	1	0	19	41				
PPFIBP1	8496	broad.mit.edu	37	12	27832572	27832572	+	Splice_Site	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:27832572A>G	ENST00000318304.8	+	19	2067	c.1784A>G	c.(1783-1785)aAa>aGa	p.K595R	PPFIBP1_ENST00000228425.6_Splice_Site_p.K589R|PPFIBP1_ENST00000537927.1_Splice_Site_p.K442R|PPFIBP1_ENST00000542629.1_Splice_Site_p.K564R	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	595					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CTCTTTGGAAAGTAAGTAAAG	0.438																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.e19+1		PTPRF interacting protein, binding protein 1 (liprin beta 1)							90.0	95.0	93.0					12																	27832572		2203	4300	6503	SO:0001630	splice_region_variant	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27832572A>G	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1784+1A>G	12.37:g.27832572A>G						PPFIBP1_ENST00000228425.6_Splice_Site_p.K589_splice|PPFIBP1_ENST00000542629.1_Splice_Site_p.K564_splice|PPFIBP1_ENST00000537927.1_Splice_Site_p.K442_splice	p.K595_splice	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN			19	2067	+	Lung SC(9;0.0873)		595					O75336|Q86X70|Q9NY03|Q9ULJ0	Splice_Site	SNP	ENST00000318304.8	37	c.1784_splice	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.178814	0.38511	.	.	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	5.8	2.28	0.28536	.	0.000000	0.36338	U	0.002648	T	0.61426	0.2346	N	0.20986	0.625	0.49051	D	0.999743	B;B;B;B;B	0.09022	0.001;0.002;0.001;0.002;0.001	B;B;B;B;B	0.19946	0.027;0.003;0.002;0.009;0.005	T	0.52147	-0.8614	10	0.42905	T	0.14	-14.1126	6.8786	0.24160	0.5898:0.0:0.4102:0.0	.	442;426;595;589;564	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4	.;.;LIPB1_HUMAN;.;.	R	426;442;595;564;589	ENSP00000444304:K426R;ENSP00000445425:K442R;ENSP00000314724:K595R;ENSP00000443442:K564R;ENSP00000228425:K589R	ENSP00000228425:K589R	K	+	2	0	PPFIBP1	27723839	0.599000	0.26891	1.000000	0.80357	0.986000	0.74619	-0.045000	0.12003	0.475000	0.27415	0.533000	0.62120	AAA		0.438	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622	Missense_Mutation	9	68	0	0	0	1	0	9	68				
STPG2	285555	broad.mit.edu	37	4	98633951	98633951	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:98633951T>C	ENST00000295268.3	-	10	1308	c.1219A>G	c.(1219-1221)Aat>Gat	p.N407D	STPG2_ENST00000506482.1_5'UTR	NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	407																	AAAACAGGATTGTATGCTGCA	0.348																																						ENST00000295268.3																			0											c.(1219-1221)Aat>Gat		sperm-tail PG-rich repeat containing 2							94.0	96.0	96.0					4																	98633951		2203	4300	6503	SO:0001583	missense	285555							g.chr4:98633951T>C	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.1219A>G	4.37:g.98633951T>C	ENSP00000295268:p.Asn407Asp					STPG2_ENST00000506482.1_5'UTR	p.N407D	NM_174952.2	NP_777612.1					10	1308	-									Missense_Mutation	SNP	ENST00000295268.3	37	c.1219A>G	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	T	0.560	-0.845677	0.02671	.	.	ENSG00000163116	ENST00000522676;ENST00000295268	T;T	0.44482	0.92;2.66	4.85	-0.914	0.10497	.	0.738198	0.12877	N	0.431808	T	0.20981	0.0505	N	0.17674	0.51	0.20196	N	0.999926	B	0.14438	0.01	B	0.16289	0.015	T	0.22626	-1.0211	10	0.16896	T	0.51	-15.5002	4.9319	0.13921	0.1283:0.3047:0.0:0.567	.	407	Q8N412	CD037_HUMAN	D	121;407	ENSP00000428346:N121D;ENSP00000295268:N407D	ENSP00000295268:N407D	N	-	1	0	C4orf37	98852974	1.000000	0.71417	0.330000	0.25442	0.141000	0.21300	1.242000	0.32755	0.008000	0.14787	-0.297000	0.09499	AAT		0.348	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		17	13	0	0	0	1	0	17	13				
STARD8	9754	broad.mit.edu	37	X	67937675	67937675	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:67937675C>T	ENST00000252336.6	+	5	1051	c.679C>T	c.(679-681)Cca>Tca	p.P227S	STARD8_ENST00000374599.3_Missense_Mutation_p.P307S|STARD8_ENST00000374597.3_Missense_Mutation_p.P227S	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	227					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGACCACAAACCAGGCACATT	0.647																																						ENST00000252336.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						c.(679-681)Cca>Tca		StAR-related lipid transfer (START) domain containing 8							56.0	36.0	43.0					X																	67937675		2203	4300	6503	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67937675C>T	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.679C>T	X.37:g.67937675C>T	ENSP00000252336:p.Pro227Ser					STARD8_ENST00000374597.3_Missense_Mutation_p.P227S|STARD8_ENST00000374599.3_Missense_Mutation_p.P307S	p.P227S	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN			5	1051	+			227					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.679C>T	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	c	18.11	3.551762	0.65311	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.76709	-1.04;-0.85;-1.04	4.4	3.53	0.40419	.	0.000000	0.85682	D	0.000000	D	0.86176	0.5870	M	0.81802	2.56	0.33595	D	0.601614	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.96	D	0.89287	0.3616	10	0.87932	D	0	.	9.2596	0.37603	0.0:0.8909:0.0:0.1091	.	307;227	Q92502-2;Q92502	.;STAR8_HUMAN	S	227;307;227	ENSP00000252336:P227S;ENSP00000363727:P307S;ENSP00000363725:P227S	ENSP00000252336:P227S	P	+	1	0	STARD8	67854400	1.000000	0.71417	0.990000	0.47175	0.888000	0.51559	7.121000	0.77160	0.866000	0.35629	0.597000	0.82753	CCA		0.647	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		3	11	0	0	0	1	0	3	11				
PKHD1L1	93035	broad.mit.edu	37	8	110412530	110412530	+	Missense_Mutation	SNP	G	G	A	rs202180175		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:110412530G>A	ENST00000378402.5	+	13	1342	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	413					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGTGATGACCGTTATGCTATT	0.368										HNSCC(38;0.096)			G|||	1	0.000199681	0.0	0.0	5008	,	,		15914	0.0		0.001	False		,,,				2504	0.0					ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(1237-1239)cGt>cAt		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1		G	HIS/ARG	1,3703		0,1,1851	187.0	176.0	180.0		1238	3.6	1.0	8		180	12,8170		0,12,4079	yes	missense	PKHD1L1	NM_177531.4	29	0,13,5930	AA,AG,GG		0.1467,0.027,0.1094	probably-damaging	413/4244	110412530	13,11873	1852	4091	5943	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110412530G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1238G>A	8.37:g.110412530G>A	ENSP00000367655:p.Arg413His	HNSCC(38;0.096)					p.R413H	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		13	1342	+			413					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.1238G>A	CCDS47911.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.68	3.871981	0.72180	2.7E-4	0.001467	ENSG00000205038	ENST00000378402	T	0.76448	-1.02	5.42	3.63	0.41609	PA14 (1);	0.162251	0.41605	N	0.000845	T	0.72692	0.3492	L	0.39020	1.185	0.32838	D	0.504912	D	0.55385	0.971	P	0.50405	0.64	T	0.77381	-0.2609	10	0.62326	D	0.03	.	7.4721	0.27355	0.2644:0.0:0.7356:0.0	.	413	Q86WI1	PKHL1_HUMAN	H	413	ENSP00000367655:R413H	ENSP00000367655:R413H	R	+	2	0	PKHD1L1	110481706	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.601000	0.54059	0.661000	0.30985	-0.253000	0.11424	CGT		0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		6	82	0	0	0	1	0	6	82				
DBH	1621	broad.mit.edu	37	9	136501639	136501639	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:136501639A>G	ENST00000393056.2	+	1	158	c.146A>G	c.(145-147)tAt>tGt	p.Y49C		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	49					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CCCCTCCCCTATCACATCCCC	0.642																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(145-147)tAt>tGt		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						35.0	33.0	34.0					9																	136501639		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136501639A>G	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.146A>G	9.37:g.136501639A>G	ENSP00000376776:p.Tyr49Cys						p.Y49C	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	1	158	+			49					Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.146A>G	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	A	12.27	1.886708	0.33348	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.52754	0.72;0.65	5.59	3.06	0.35304	.	0.171108	0.53938	D	0.000053	T	0.60805	0.2297	M	0.71581	2.175	0.50467	D	0.999874	D	0.64830	0.994	P	0.60012	0.867	T	0.64166	-0.6471	10	0.87932	D	0	-0.0184	10.5115	0.44864	0.7417:0.0:0.0:0.2583	.	49	P09172	DOPO_HUMAN	C	49;35;35	ENSP00000376776:Y49C;ENSP00000263611:Y35C	ENSP00000263611:Y35C	Y	+	2	0	DBH	135491460	1.000000	0.71417	0.995000	0.50966	0.003000	0.03518	4.373000	0.59537	0.930000	0.37217	0.459000	0.35465	TAT		0.642	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		4	29	0	0	0	1	0	4	29				
AXL	558	broad.mit.edu	37	19	41744449	41744449	+	Missense_Mutation	SNP	C	C	T	rs143593613		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:41744449C>T	ENST00000301178.4	+	8	1259	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	AXL_ENST00000359092.3_Missense_Mutation_p.R357W|AXL_ENST00000593513.1_Missense_Mutation_p.R89W	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	357	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCAAGAGCCCCGGGCGCCCCT	0.647																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(1069-1071)Cgg>Tgg		AXL receptor tyrosine kinase		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	25.0	28.0	27.0		1069,1069	-0.7	0.0	19	dbSNP_134	27	0,8600		0,0,4300	no	missense,missense	AXL	NM_001699.4,NM_021913.3	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	357/886,357/895	41744449	1,13005	2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41744449C>T	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1069C>T	19.37:g.41744449C>T	ENSP00000301178:p.Arg357Trp					AXL_ENST00000359092.3_Missense_Mutation_p.R357W|AXL_ENST00000593513.1_Missense_Mutation_p.R89W	p.R357W	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			8	1259	+			357			Fibronectin type-III 2.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.1069C>T	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	c	16.06	3.016344	0.54468	2.27E-4	0.0	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.58506	0.33;0.33	4.36	-0.732	0.11147	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.329934	0.28290	N	0.015894	T	0.62925	0.2468	M	0.61703	1.905	0.09310	N	1	D;D	0.76494	0.999;0.999	P;P	0.59761	0.785;0.863	T	0.56402	-0.7985	10	0.72032	D	0.01	-5.6457	7.8772	0.29601	0.3016:0.5988:0.0996:0.0	.	357;357	P30530-2;P30530	.;UFO_HUMAN	W	357	ENSP00000301178:R357W;ENSP00000351995:R357W	ENSP00000301178:R357W	R	+	1	2	AXL	46436289	0.020000	0.18652	0.004000	0.12327	0.807000	0.45602	0.604000	0.24164	-0.048000	0.13401	0.297000	0.19635	CGG		0.647	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			14	14	0	0	0	1	0	14	14				
PARD3B	117583	broad.mit.edu	37	2	206480515	206480515	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:206480515A>G	ENST00000406610.2	+	23	3803	c.3596A>G	c.(3595-3597)aAc>aGc	p.N1199S	PARD3B_ENST00000349953.3_Missense_Mutation_p.N1098S|PARD3B_ENST00000351153.1_Missense_Mutation_p.N1130S|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000358768.2_Missense_Mutation_p.N1137S	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1199					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CGGCAGAAGAACCCCATGACT	0.582																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(3595-3597)aAc>aGc		par-3 family cell polarity regulator beta							50.0	56.0	54.0					2																	206480515		1951	4133	6084	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206480515A>G	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.3596A>G	2.37:g.206480515A>G	ENSP00000385848:p.Asn1199Ser					PARD3B_ENST00000349953.3_Missense_Mutation_p.N1098S|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000351153.1_Missense_Mutation_p.N1130S|PARD3B_ENST00000358768.2_Missense_Mutation_p.N1137S	p.N1199S	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	23	3803	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	1199					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.3596A>G		.	.	.	.	.	.	.	.	.	.	A	14.83	2.651958	0.47362	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.15603	2.65;2.41;2.6;2.57	5.87	4.71	0.59529	.	0.188915	0.37857	N	0.001904	T	0.14141	0.0342	L	0.44542	1.39	0.21499	N	0.999664	P;B;B;B	0.39535	0.677;0.016;0.138;0.005	B;B;B;B	0.32677	0.15;0.004;0.044;0.019	T	0.11743	-1.0575	10	0.72032	D	0.01	.	11.2025	0.48749	0.9257:0.0:0.0743:0.0	.	1199;1130;1137;1098	Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.;.	S	1199;1137;1130;1098	ENSP00000385848:N1199S;ENSP00000351618:N1137S;ENSP00000317261:N1130S;ENSP00000340280:N1098S	ENSP00000340280:N1098S	N	+	2	0	PARD3B	206188760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.678000	0.54627	1.024000	0.39682	0.528000	0.53228	AAC		0.582	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		10	41	0	0	0	1	0	10	41				
CD97	976	broad.mit.edu	37	19	14517970	14517970	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:14517970T>C	ENST00000242786.5	+	18	2385	c.2305T>C	c.(2305-2307)Tat>Cat	p.Y769H	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.Y720H|CD97_ENST00000358600.3_Missense_Mutation_p.Y676H|DDX39A_ENST00000592927.1_5'Flank	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	769					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGTGCTGACCTATGTGTTTAC	0.617																																						ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(2305-2307)Tat>Cat		CD97 molecule							169.0	137.0	148.0					19																	14517970		2203	4300	6503	SO:0001583	missense	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14517970T>C		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2305T>C	19.37:g.14517970T>C	ENSP00000242786:p.Tyr769His					CD97_ENST00000357355.3_Missense_Mutation_p.Y720H|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Missense_Mutation_p.Y676H	p.Y769H	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			18	2385	+			769					A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	c.2305T>C	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.542744	0.45280	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.41758	0.99;0.99;0.99	5.16	4.13	0.48395	GPCR, family 2-like (1);	0.000000	0.30762	N	0.008935	T	0.69106	0.3074	M	0.92317	3.295	0.41327	D	0.987212	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.73313	-0.4022	10	0.87932	D	0	.	9.2071	0.37296	0.0:0.0881:0.0:0.9119	.	676;720;769	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	H	769;720;676;719	ENSP00000242786:Y769H;ENSP00000349918:Y720H;ENSP00000351413:Y676H	ENSP00000242786:Y769H	Y	+	1	0	CD97	14378970	1.000000	0.71417	0.142000	0.22268	0.008000	0.06430	7.320000	0.79064	0.787000	0.33731	0.533000	0.62120	TAT		0.617	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		9	86	0	0	0	1	0	9	86				
NASP	4678	broad.mit.edu	37	1	46073658	46073658	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:46073658G>A	ENST00000350030.3	+	6	1162	c.1075G>A	c.(1075-1077)Gct>Act	p.A359T	NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.A295T|NASP_ENST00000351223.3_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.A361T	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	359	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGCTGTAGAGGCTGGATCAGA	0.527																																						ENST00000350030.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17						c.(1075-1077)Gct>Act		nuclear autoantigenic sperm protein (histone-binding)							86.0	96.0	93.0					1																	46073658		2203	4300	6503	SO:0001583	missense	4678				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	g.chr1:46073658G>A	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1075G>A	1.37:g.46073658G>A	ENSP00000255120:p.Ala359Thr					NASP_ENST00000372052.4_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.A361T|NASP_ENST00000537798.1_Missense_Mutation_p.A295T|NASP_ENST00000351223.3_Intron	p.A359T	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN			6	1162	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		359			Glu-rich (acidic).		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	c.1075G>A	CCDS524.1	.	.	.	.	.	.	.	.	.	.	G	7.751	0.703415	0.15172	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030	D;D;D	0.94758	-3.51;-3.51;-3.51	5.41	3.43	0.39272	.	0.956771	0.08643	N	0.915310	D	0.89283	0.6671	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.31680	0.328;0.335;0.19;0.099;0.253	B;B;B;B;B	0.31101	0.124;0.086;0.11;0.04;0.087	T	0.77765	-0.2465	9	.	.	.	0.2974	10.7559	0.46237	0.0:0.1427:0.7087:0.1485	.	295;359;259;359;361	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	T	295;361;259;359	ENSP00000438871:A295T;ENSP00000384529:A361T;ENSP00000255120:A359T	.	A	+	1	0	NASP	45846245	0.948000	0.32251	0.143000	0.22291	0.539000	0.34962	0.914000	0.28624	0.697000	0.31718	0.557000	0.71058	GCT		0.527	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		28	81	0	0	0	1	0	28	81				
CENPE	1062	broad.mit.edu	37	4	104068648	104068648	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:104068648C>T	ENST00000265148.3	-	29	4088	c.3999G>A	c.(3997-3999)ttG>ttA	p.L1333L	CENPE_ENST00000380026.3_Silent_p.L1308L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1333					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATTTTTCATTCAACCTGAGCC	0.373																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(3997-3999)ttG>ttA		centromere protein E, 312kDa							175.0	166.0	169.0					4																	104068648		2203	4300	6503	SO:0001819	synonymous_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104068648C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.3999G>A	4.37:g.104068648C>T						CENPE_ENST00000380026.3_Silent_p.L1308L	p.L1333L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	29	4088	-			1333					A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	c.3999G>A	CCDS34042.1																																																																																				0.373	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				25	20	0	0	0	1	0	25	20				
NPNT	255743	broad.mit.edu	37	4	106858224	106858224	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:106858224C>T	ENST00000379987.2	+	4	540	c.324C>T	c.(322-324)taC>taT	p.Y108Y	NPNT_ENST00000453617.2_Silent_p.Y125Y|NPNT_ENST00000305572.8_Silent_p.Y108Y|NPNT_ENST00000513430.1_3'UTR|NPNT_ENST00000506666.1_Silent_p.Y138Y|NPNT_ENST00000514622.1_Silent_p.Y108Y|NPNT_ENST00000427316.2_Silent_p.Y138Y	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	108	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGAACACTTACGGCAGCTACA	0.448																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(322-324)taC>taT		nephronectin							113.0	95.0	101.0					4																	106858224		2203	4300	6503	SO:0001819	synonymous_variant	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106858224C>T		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.324C>T	4.37:g.106858224C>T						NPNT_ENST00000453617.2_Silent_p.Y125Y|NPNT_ENST00000514622.1_Silent_p.Y108Y|NPNT_ENST00000506666.1_Silent_p.Y138Y|NPNT_ENST00000513430.1_3'UTR|NPNT_ENST00000427316.2_Silent_p.Y138Y|NPNT_ENST00000305572.8_Silent_p.Y108Y	p.Y108Y	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	4	540	+		Hepatocellular(203;0.217)	108			EGF-like 2; calcium-binding (Potential).		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Silent	SNP	ENST00000379987.2	37	c.324C>T	CCDS34046.1	.	.	.	.	.	.	.	.	.	.	C	7.288	0.610517	0.14066	.	.	ENSG00000168743	ENST00000514837	.	.	.	5.05	-1.81	0.07882	.	.	.	.	.	T	0.58637	0.2136	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56703	-0.7935	4	.	.	.	.	12.5725	0.56344	0.0:0.5093:0.0:0.4907	.	.	.	.	W	85	.	.	R	+	1	2	NPNT	107077673	0.001000	0.12720	0.162000	0.22713	0.928000	0.56348	-1.504000	0.02275	-0.313000	0.08728	-1.170000	0.01741	CGG		0.448	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		18	16	0	0	0	1	0	18	16				
RNF215	200312	broad.mit.edu	37	22	30776081	30776081	+	Silent	SNP	C	C	T	rs567963097		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30776081C>T	ENST00000382363.3	-	7	1052	c.978G>A	c.(976-978)gcG>gcA	p.A326A	RP1-130H16.16_ENST00000332468.4_RNA	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	326						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CCAGGCACACCGCACAGGTCT	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		16328	0.0		0.0	False		,,,				2504	0.001					ENST00000382363.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(976-978)gcG>gcA		ring finger protein 215							79.0	86.0	84.0					22																	30776081		2203	4300	6503	SO:0001819	synonymous_variant	200312					integral to membrane	zinc ion binding	g.chr22:30776081C>T		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"""RING-type (C3HC4) zinc fingers"""	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.978G>A	22.37:g.30776081C>T							p.A326A	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN			7	1052	-			326					A6NEL1	Silent	SNP	ENST00000382363.3	37	c.978G>A	CCDS33633.1	.	.	.	.	.	.	.	.	.	.	C	0.035	-1.309092	0.01342	.	.	ENSG00000099999	ENST00000215798	.	.	.	3.86	-7.73	0.01245	.	.	.	.	.	T	0.46521	0.1397	.	.	.	0.50313	D	0.999861	.	.	.	.	.	.	T	0.57602	-0.7783	4	.	.	.	-3.9113	6.4576	0.21938	0.2231:0.0885:0.5144:0.174	.	.	.	.	S	264	.	.	G	-	1	0	RNF215	29106081	0.000000	0.05858	0.066000	0.19879	0.026000	0.11368	-3.877000	0.00344	-3.990000	0.00084	-2.061000	0.00397	GGT		0.647	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	NM_001017981		5	72	0	0	0	1	0	5	72				
PHPT1	29085	broad.mit.edu	37	9	139748345	139748345	+	IGR	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:139748345C>T	ENST00000247665.10	+	0	890				MAMDC4_ENST00000317446.2_Missense_Mutation_p.R191W|MAMDC4_ENST00000445819.1_Missense_Mutation_p.R191W|MAMDC4_ENST00000485732.1_3'UTR	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		AGGCCGCATCCGGGGTGACTT	0.657																																						ENST00000445819.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(571-573)Cgg>Tgg		MAM domain containing 4							36.0	39.0	38.0					9																	139748345		2196	4300	6496	SO:0001628	intergenic_variant	158056				protein transport	integral to membrane		g.chr9:139748345C>T	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950		9.37:g.139748345C>T						MAMDC4_ENST00000317446.2_Missense_Mutation_p.R191W|MAMDC4_ENST00000485732.1_3'UTR	p.R191W			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	5	621	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	191			MAM 1.		B1AMX0|B1AMX1|Q9H0Y3	Missense_Mutation	SNP	ENST00000247665.10	37	c.571C>T	CCDS7009.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.32|12.32	1.901659|1.901659	0.33535|0.33535	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000413647|ENST00000317446;ENST00000445819	.|T;T	.|0.02103	.|4.45;4.45	4.78|4.78	1.68|1.68	0.24146|0.24146	.|.	.|0.949320	.|0.08693	.|N	.|0.907581	T|T	0.04724|0.04724	0.0128|0.0128	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	.|P	.|0.47350	.|0.894	.|B	.|0.43052	.|0.406	T|T	0.43782|0.43782	-0.9370|-0.9370	5|10	.|0.66056	.|D	.|0.02	-15.3841|-15.3841	12.7178|12.7178	0.57125|0.57125	0.5593:0.4407:0.0:0.0|0.5593:0.4407:0.0:0.0	.|.	.|191	.|Q6UXC1-2	.|.	L|W	172|191	.|ENSP00000319388:R191W;ENSP00000411339:R191W	.|ENSP00000319388:R191W	P|R	+|+	2|1	0|2	MAMDC4|MAMDC4	138868166|138868166	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.133000|0.133000	0.20885|0.20885	-0.137000|-0.137000	0.10389|0.10389	0.045000|0.045000	0.15804|0.15804	-0.310000|-0.310000	0.09108|0.09108	CCG|CGG		0.657	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172		3	17	0	0	0	1	0	3	17				
THOC6	79228	broad.mit.edu	37	16	3076395	3076395	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:3076395C>A	ENST00000326266.8	+	6	688	c.392C>A	c.(391-393)gCt>gAt	p.A131D	HCFC1R1_ENST00000574151.1_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.A107D|HCFC1R1_ENST00000354679.3_5'Flank|THOC6_ENST00000575576.1_Missense_Mutation_p.A107D|HCFC1R1_ENST00000396916.1_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000574980.1_5'Flank|THOC6_ENST00000253952.9_Missense_Mutation_p.A131D	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	131					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GAGATCAACGCTTTGCTGCTG	0.542																																						ENST00000326266.8																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						c.(391-393)gCt>gAt		THO complex 6 homolog (Drosophila)							120.0	102.0	108.0					16																	3076395		2198	4300	6498	SO:0001583	missense	79228				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	g.chr16:3076395C>A	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.392C>A	16.37:g.3076395C>A	ENSP00000326531:p.Ala131Asp					THOC6_ENST00000574549.1_Missense_Mutation_p.A107D|THOC6_ENST00000253952.9_Missense_Mutation_p.A131D|THOC6_ENST00000575576.1_Missense_Mutation_p.A107D	p.A131D	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN			6	688	+			131					B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	37	c.392C>A	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645504	0.47258	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.29142	1.58;1.58	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.456841	0.25148	N	0.032761	T	0.33789	0.0875	M	0.65498	2.005	0.46749	D	0.999189	B;B	0.28850	0.225;0.103	B;B	0.26517	0.07;0.03	T	0.15350	-1.0440	10	0.72032	D	0.01	-19.6948	12.9836	0.58579	0.0:0.8377:0.1623:0.0	.	131;131	Q86W42-3;Q86W42	.;THOC6_HUMAN	D	131	ENSP00000326531:A131D;ENSP00000253952:A131D	ENSP00000253952:A131D	A	+	2	0	THOC6	3016396	1.000000	0.71417	0.979000	0.43373	0.954000	0.61252	3.284000	0.51708	2.696000	0.92011	0.561000	0.74099	GCT		0.542	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		20	23	1	0	1.15919e-05	1	1.20134e-05	20	23				
ARID3B	10620	broad.mit.edu	37	15	74883589	74883589	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:74883589C>T	ENST00000346246.5	+	6	1210	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	327	Interaction with RB1.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CAGGGAGGGCCGGCGGCCCAG	0.612																																						ENST00000346246.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(979-981)Cgg>Tgg		AT rich interactive domain 3B (BRIGHT-like)							76.0	91.0	86.0					15																	74883589		2197	4296	6493	SO:0001583	missense	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74883589C>T		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.979C>T	15.37:g.74883589C>T	ENSP00000343126:p.Arg327Trp						p.R327W	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			6	1210	+			327			Interaction with RB1.		O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	ENST00000346246.5	37	c.979C>T	CCDS10264.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837167	0.71373	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	T	0.56611	0.45	5.13	3.18	0.36537	.	0.000000	0.85682	D	0.000000	T	0.70718	0.3256	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.995;1.0	T	0.73269	-0.4036	10	0.72032	D	0.01	-21.2017	13.6517	0.62314	0.5302:0.4698:0.0:0.0	.	327;327;327	B4DXL8;Q8IVW6;Q8IVW6-4	.;ARI3B_HUMAN;.	W	327	ENSP00000343126:R327W	ENSP00000343126:R327W	R	+	1	2	ARID3B	72670642	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.865000	0.27940	0.519000	0.28406	0.561000	0.74099	CGG		0.612	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		28	96	0	0	0	1	0	28	96				
MTL5	9633	broad.mit.edu	37	11	68506190	68506190	+	Missense_Mutation	SNP	G	G	A	rs370056313		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:68506190G>A	ENST00000255087.5	-	6	1078	c.895C>T	c.(895-897)Cca>Tca	p.P299S	MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Missense_Mutation_p.P299S|MTL5_ENST00000443940.2_3'UTR	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	299	CRC. {ECO:0000255|PROSITE- ProRule:PRU00971}.				cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			ATTTTTGGTGGTCCTGGAAGA	0.413																																						ENST00000255087.5																			0				breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15						c.(895-897)Cca>Tca		metallothionein-like 5, testis-specific (tesmin)							107.0	100.0	102.0					11																	68506190		2200	4294	6494	SO:0001583	missense	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68506190G>A	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.895C>T	11.37:g.68506190G>A	ENSP00000255087:p.Pro299Ser					MTL5_ENST00000544963.1_Missense_Mutation_p.P299S|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000443940.2_3'UTR	p.P299S	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		6	1078	-	Esophageal squamous(3;4.37e-12)		299					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	37	c.895C>T	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872215	0.51695	.	.	ENSG00000132749	ENST00000255087;ENST00000544963	T;T	0.52057	1.55;0.68	5.16	5.16	0.70880	.	0.000000	0.47852	D	0.000202	T	0.30634	0.0771	L	0.34521	1.04	0.34649	D	0.721411	P	0.39480	0.675	B	0.32393	0.145	T	0.43310	-0.9399	10	0.24483	T	0.36	-11.7634	9.7839	0.40664	0.0944:0.0:0.9056:0.0	.	299	Q9Y4I5	MTL5_HUMAN	S	299	ENSP00000255087:P299S;ENSP00000440968:P299S	ENSP00000255087:P299S	P	-	1	0	MTL5	68262766	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.093000	0.41710	2.433000	0.82419	0.561000	0.74099	CCA		0.413	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		4	37	0	0	0	1	0	4	37				
APBA1	320	broad.mit.edu	37	9	72131916	72131916	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:72131916G>A	ENST00000265381.4	-	2	433	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	71					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CATTCCCCGCGCTCCTCTTCC	0.731																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(211-213)Cgc>Tgc		amyloid beta (A4) precursor protein-binding, family A, member 1							10.0	12.0	11.0					9																	72131916		2185	4254	6439	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131916G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.211C>T	9.37:g.72131916G>A	ENSP00000265381:p.Arg71Cys						p.R71C	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	433	-			71					O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.211C>T	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229548	0.39399	.	.	ENSG00000107282	ENST00000265381	T	0.05382	3.45	5.08	4.18	0.49190	.	0.636915	0.15686	N	0.249656	T	0.03783	0.0107	N	0.14661	0.345	0.35388	D	0.790529	P	0.49358	0.923	B	0.33799	0.17	T	0.48670	-0.9015	10	0.56958	D	0.05	.	11.9448	0.52922	0.0:0.1315:0.732:0.1366	.	71	Q02410	APBA1_HUMAN	C	71	ENSP00000265381:R71C	ENSP00000265381:R71C	R	-	1	0	APBA1	71321736	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.373000	0.59537	1.139000	0.42245	0.655000	0.94253	CGC		0.731	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		4	10	0	0	0	1	0	4	10				
MSI1	4440	broad.mit.edu	37	12	120791157	120791157	+	Silent	SNP	G	G	T	rs543420695		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:120791157G>T	ENST00000257552.2	-	10	766	c.678C>A	c.(676-678)acC>acA	p.T226T	MSI1_ENST00000546622.1_5'UTR	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	226					epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTGGCGTAGGTTGTGGCTT	0.597																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(676-678)acC>acA		musashi RNA-binding protein 1							114.0	110.0	111.0					12																	120791157		2203	4300	6503	SO:0001819	synonymous_variant	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120791157G>T	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.678C>A	12.37:g.120791157G>T						MSI1_ENST00000546622.1_5'UTR	p.T226T	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN			10	766	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		226					Q96PU0|Q96PU1|Q96PU2|Q96PU3	Silent	SNP	ENST00000257552.2	37	c.678C>A	CCDS9196.1	.	.	.	.	.	.	.	.	.	.	G	9.828	1.187539	0.21870	.	.	ENSG00000135097	ENST00000546985	.	.	.	4.91	3.0	0.34707	.	.	.	.	.	T	0.56217	0.1970	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51332	-0.8719	4	.	.	.	.	7.6358	0.28266	0.0765:0.0:0.638:0.2855	.	.	.	.	H	158	.	.	P	-	2	0	MSI1	119275540	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.274000	0.33132	1.009000	0.39289	0.455000	0.32223	CCT		0.597	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		17	51	1	0	4.75885e-15	1	5.12876e-15	17	51				
PYCR2	29920	broad.mit.edu	37	1	226109030	226109030	+	Silent	SNP	G	G	A	rs150765933		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:226109030G>A	ENST00000343818.6	-	6	823	c.675C>T	c.(673-675)tgC>tgT	p.C225C	PYCR2_ENST00000478402.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Silent_p.C151C	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	225					L-proline biosynthetic process (GO:0055129)	cytoplasm (GO:0005737)	pyrroline-5-carboxylate reductase activity (GO:0004735)			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)	CCTTAAGCTGGCATGGATGCT	0.572																																						ENST00000343818.6																			0				kidney(1)|lung(3)	4						c.(673-675)tgC>tgT		pyrroline-5-carboxylate reductase family, member 2	L-Proline(DB00172)|NADH(DB00157)						39.0	40.0	40.0					1																	226109030		2203	4300	6503	SO:0001819	synonymous_variant	29920				proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity	g.chr1:226109030G>A	AF151351	CCDS31043.1, CCDS73039.1	1q42.13	2008-02-05			ENSG00000143811	ENSG00000143811			30262	protein-coding gene	gene with protein product						12477932	Standard	NM_013328		Approved	P5CR2	uc001hpq.4	Q96C36	OTTHUMG00000037506	ENST00000343818.6:c.675C>T	1.37:g.226109030G>A						RP4-559A3.7_ENST00000432920.2_Silent_p.C151C|PYCR2_ENST00000478402.1_5'UTR	p.C225C	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN			6	823	-	Breast(184;0.197)		225					A8K798|Q7Z515|Q9Y5J4	Silent	SNP	ENST00000343818.6	37	c.675C>T	CCDS31043.1																																																																																				0.572	PYCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091314.1	NM_013328		12	12	0	0	0	1	0	12	12				
ATP2C2	9914	broad.mit.edu	37	16	84438757	84438757	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:84438757G>A	ENST00000262429.4	+	3	323	c.234G>A	c.(232-234)tcG>tcA	p.S78S	ATP2C2_ENST00000416219.2_Silent_p.S78S	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	78					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTGGGCTGTCGGAGTTCTCGG	0.567																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(232-234)tcG>tcA		ATPase, Ca++ transporting, type 2C, member 2							73.0	79.0	77.0					16																	84438757		2109	4241	6350	SO:0001819	synonymous_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84438757G>A	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.234G>A	16.37:g.84438757G>A						ATP2C2_ENST00000262429.4_Silent_p.S78S	p.S78S			O75185	AT2C2_HUMAN			3	323	+			78					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.234G>A	CCDS42207.1																																																																																				0.567	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		13	34	0	0	0	1	0	13	34				
TLDC1	57707	broad.mit.edu	37	16	84514162	84514162	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:84514162C>T	ENST00000343629.6	-	7	1412	c.1230G>A	c.(1228-1230)gcG>gcA	p.A410A	TLDC1_ENST00000535580.1_Silent_p.A383A	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	410	TLD.					lysosomal membrane (GO:0005765)											GGTCTCCAACCGCCCACACCT	0.577																																						ENST00000343629.6																			0											c.(1228-1230)gcG>gcA		TBC/LysM-associated domain containing 1							95.0	77.0	83.0					16																	84514162		2200	4300	6500	SO:0001819	synonymous_variant	57707							g.chr16:84514162C>T	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.1230G>A	16.37:g.84514162C>T						TLDC1_ENST00000535580.1_Silent_p.A383A	p.A410A	NM_020947.3	NP_065998.3					7	1412	-								Q8IZ64|Q9HCG3|Q9NTE8	Silent	SNP	ENST00000343629.6	37	c.1230G>A	CCDS32498.1																																																																																				0.577	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		15	26	0	0	0	1	0	15	26				
TNC	3371	broad.mit.edu	37	9	117849133	117849133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:117849133G>A	ENST00000350763.4	-	3	1288	c.877C>T	c.(877-879)Cga>Tga	p.R293*	TNC_ENST00000537320.1_Nonsense_Mutation_p.R293*|TNC_ENST00000340094.3_Nonsense_Mutation_p.R293*|TNC_ENST00000423613.2_Nonsense_Mutation_p.R293*|TNC_ENST00000346706.3_Nonsense_Mutation_p.R293*|TNC_ENST00000535648.1_Nonsense_Mutation_p.R293*|TNC_ENST00000345230.3_Nonsense_Mutation_p.R293*|TNC_ENST00000542877.1_Nonsense_Mutation_p.R293*|TNC_ENST00000341037.4_Nonsense_Mutation_p.R293*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	293	EGF-like 5. {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						TCCACGCATCGTCCACGGTTG	0.562																																						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.(877-879)Cga>Tga		tenascin C							226.0	168.0	188.0					9																	117849133		2203	4300	6503	SO:0001587	stop_gained	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117849133G>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.877C>T	9.37:g.117849133G>A	ENSP00000265131:p.Arg293*					TNC_ENST00000537320.1_Nonsense_Mutation_p.R293*|TNC_ENST00000542877.1_Nonsense_Mutation_p.R293*|TNC_ENST00000340094.3_Nonsense_Mutation_p.R293*|TNC_ENST00000535648.1_Nonsense_Mutation_p.R293*|TNC_ENST00000345230.3_Nonsense_Mutation_p.R293*|TNC_ENST00000346706.3_Nonsense_Mutation_p.R293*|TNC_ENST00000423613.2_Nonsense_Mutation_p.R293*|TNC_ENST00000341037.4_Nonsense_Mutation_p.R293*	p.R293*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			3	1288	-			293			EGF-like 5.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Nonsense_Mutation	SNP	ENST00000350763.4	37	c.877C>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	40	8.224891	0.98714	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	.	.	.	5.56	2.5	0.30297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9937	0.64382	0.0:0.0:0.6067:0.3933	.	.	.	.	X	293	.	ENSP00000344400:R293X	R	-	1	2	TNC	116888954	1.000000	0.71417	0.996000	0.52242	0.795000	0.44927	3.669000	0.54561	0.805000	0.34159	0.563000	0.77884	CGA		0.562	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		15	74	0	0	0	1	0	15	74				
ATP5H	10476	broad.mit.edu	37	17	73035039	73035039	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:73035039A>G	ENST00000301587.4	-	6	521	c.474T>C	c.(472-474)atT>atC	p.I158I	KCTD2_ENST00000581589.1_Intron|KCTD2_ENST00000584767.1_Intron|ATP5H_ENST00000344546.4_Silent_p.I134I|RN7SL573P_ENST00000485340.2_RNA	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d	158					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			lung(1)|skin(1)	2	all_lung(278;0.226)					ATAAATTCTCAATTGGTTGGT	0.368																																						ENST00000301587.4																			0				lung(1)|skin(1)	2						c.(472-474)atT>atC		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d							77.0	76.0	76.0					17																	73035039		2203	4300	6503	SO:0001819	synonymous_variant	10476				ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity	g.chr17:73035039A>G	AF087135	CCDS11712.1, CCDS32727.1	17q25	2014-01-24	2010-06-11		ENSG00000167863	ENSG00000167863		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	845	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d"""			11042152	Standard	NM_006356		Approved	ATPQ, ATP5JD	uc002jmn.1	O75947	OTTHUMG00000179219	ENST00000301587.4:c.474T>C	17.37:g.73035039A>G						KCTD2_ENST00000584767.1_Intron|KCTD2_ENST00000581589.1_Intron|ATP5H_ENST00000344546.4_Silent_p.I134I	p.I158I	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN			6	521	-	all_lung(278;0.226)		158					B2R5L6|Q9H3J4	Silent	SNP	ENST00000301587.4	37	c.474T>C	CCDS11712.1																																																																																				0.368	ATP5H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445318.1	NM_006356		17	42	0	0	0	1	0	17	42				
AKAP9	10142	broad.mit.edu	37	7	91712544	91712544	+	Missense_Mutation	SNP	G	G	T	rs368001901		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:91712544G>T	ENST00000359028.2	+	34	8482	c.8257G>T	c.(8257-8259)Gca>Tca	p.A2753S	AKAP9_ENST00000356239.3_Missense_Mutation_p.A2741S|AKAP9_ENST00000358100.2_Missense_Mutation_p.A2753S			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2753	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGATCACCTCGCAGAGGCAAA	0.368			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(8257-8259)Gca>Tca		A kinase (PRKA) anchor protein 9							64.0	63.0	63.0					7																	91712544		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91712544G>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8257G>T	7.37:g.91712544G>T	ENSP00000351922:p.Ala2753Ser					AKAP9_ENST00000356239.3_Missense_Mutation_p.A2741S|AKAP9_ENST00000358100.2_Missense_Mutation_p.A2753S	p.A2753S			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		34	8482	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2753			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.8257G>T		.	.	.	.	.	.	.	.	.	.	g	0.297	-0.976474	0.02215	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	4.8	-1.99	0.07457	.	0.651149	0.12866	N	0.432703	T	0.23532	0.0569	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.13145	0.007;0.005;0.003;0.005;0.005	B;B;B;B;B	0.11329	0.006;0.006;0.003;0.006;0.006	T	0.27400	-1.0075	10	0.15952	T	0.53	.	11.152	0.48464	0.5861:0.0:0.4139:0.0	.	2745;2745;2753;2741;2733	F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	S	2741;2753;2753;2745;587	ENSP00000348573:A2741S;ENSP00000351922:A2753S;ENSP00000350813:A2753S;ENSP00000378042:A587S	ENSP00000348573:A2741S	A	+	1	0	AKAP9	91550480	0.000000	0.05858	0.053000	0.19242	0.025000	0.11179	-0.395000	0.07287	-0.221000	0.09973	-2.667000	0.00145	GCA		0.368	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		11	43	1	0	3.86212e-05	1	3.97048e-05	11	43				
PDE6B	5158	broad.mit.edu	37	4	648639	648639	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:648639C>T	ENST00000496514.1	+	6	975	c.954C>T	c.(952-954)gaC>gaT	p.D318D	RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000255622.6_Silent_p.D318D|RP11-1191J2.2_ENST00000598370.1_RNA|PDE6B_ENST00000429163.2_Silent_p.D39D|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000599030.1_RNA			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	318	GAF 2.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	AAGTGATCGACTACGTCCTCC	0.582																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(952-954)gaC>gaT		phosphodiesterase 6B, cGMP-specific, rod, beta							158.0	148.0	151.0					4																	648639		2203	4300	6503	SO:0001819	synonymous_variant	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:648639C>T	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.954C>T	4.37:g.648639C>T						RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000496514.1_Silent_p.D318D|PDE6B_ENST00000429163.2_Silent_p.D39D|RP11-1191J2.2_ENST00000468356.1_RNA	p.D318D	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			6	997	+			318			GAF 2.		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	ENST00000496514.1	37	c.954C>T	CCDS33932.1																																																																																				0.582	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		4	61	0	0	0	1	0	4	61				
AMPD2	271	broad.mit.edu	37	1	110171762	110171762	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:110171762A>G	ENST00000256578.3	+	13	2125	c.1765A>G	c.(1765-1767)Aac>Gac	p.N589D	AMPD2_ENST00000342115.4_Missense_Mutation_p.N508D|AMPD2_ENST00000393688.3_Missense_Mutation_p.N470D|AMPD2_ENST00000358729.4_Missense_Mutation_p.N514D|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528667.1_Missense_Mutation_p.N589D|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528454.1_Missense_Mutation_p.N471D	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	589					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCAGCTGGCCAACTTCCAGGA	0.577																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(1765-1767)Aac>Gac		adenosine monophosphate deaminase 2							42.0	40.0	41.0					1																	110171762		2203	4300	6503	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110171762A>G	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1765A>G	1.37:g.110171762A>G	ENSP00000256578:p.Asn589Asp					AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528454.1_Missense_Mutation_p.N471D|AMPD2_ENST00000528667.1_Missense_Mutation_p.N589D|AMPD2_ENST00000342115.4_Missense_Mutation_p.N508D|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000393688.3_Missense_Mutation_p.N470D|AMPD2_ENST00000358729.4_Missense_Mutation_p.N514D	p.N589D	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	13	2125	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	589					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.1765A>G	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.2|20.2	3.956852|3.956852	0.73902|0.73902	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688|ENST00000369840	D;D;D;D;D;D|.	0.93859|.	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3|.	4.93|4.93	4.93|4.93	0.64822|0.64822	Adenosine/AMP deaminase (1);|.	0.097739|.	0.64402|.	D|.	0.000002|.	T|T	0.68302|0.68302	0.2986|0.2986	M|M	0.83692|0.83692	2.655|2.655	0.44762|0.44762	D|D	0.997769|0.997769	P;B;P;B|.	0.36712|.	0.557;0.338;0.566;0.338|.	B;B;P;B|.	0.46208|.	0.215;0.358;0.507;0.373|.	T|T	0.72760|0.72760	-0.4196|-0.4196	10|5	0.62326|.	D|.	0.03|.	-35.1875|-35.1875	10.5616|10.5616	0.45148|0.45148	0.8382:0.1618:0.0:0.0|0.8382:0.1618:0.0:0.0	.|.	514;470;589;508|.	Q01433-4;Q01433-3;Q01433;Q01433-2|.	.;.;AMPD2_HUMAN;.|.	D|R	508;589;589;514;471;470|559	ENSP00000345498:N508D;ENSP00000436541:N589D;ENSP00000256578:N589D;ENSP00000351573:N514D;ENSP00000437164:N471D;ENSP00000377292:N470D|.	ENSP00000256578:N589D|.	N|Q	+|+	1|2	0|0	AMPD2|AMPD2	109973285|109973285	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.952000|6.952000	0.75989|0.75989	2.066000|2.066000	0.61787|0.61787	0.533000|0.533000	0.62120|0.62120	AAC|CAA		0.577	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			13	21	0	0	0	1	0	13	21				
OTUD4	54726	broad.mit.edu	37	4	146058591	146058591	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:146058591C>T	ENST00000447906.2	-	21	3523	c.3336G>A	c.(3334-3336)caG>caA	p.Q1112Q	OTUD4_ENST00000454497.2_Silent_p.Q1047Q|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1112					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ATCAAGTGTGCTGTCCCCTAT	0.433																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(3139-3141)caG>caA		OTU domain containing 4							147.0	140.0	142.0					4																	146058591		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146058591C>T		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.3336G>A	4.37:g.146058591C>T						OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.Q1112Q	p.Q1047Q	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	3278	-	all_hematologic(180;0.151)		1111					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.3141G>A																																																																																					0.433	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		14	138	0	0	0	1	0	14	138				
TRAF7	84231	broad.mit.edu	37	16	2226330	2226330	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:2226330C>T	ENST00000326181.6	+	20	2075	c.1943C>T	c.(1942-1944)gCg>gTg	p.A648V		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	648					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						AGTGTCACCGCGCTGGCTGTG	0.642																																						ENST00000326181.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						c.(1942-1944)gCg>gTg		TNF receptor-associated factor 7, E3 ubiquitin protein ligase							24.0	23.0	23.0					16																	2226330		2188	4297	6485	SO:0001583	missense	84231				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2226330C>T	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1943C>T	16.37:g.2226330C>T	ENSP00000318944:p.Ala648Val						p.A648V	NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN			20	2075	+			648					Q9H073	Missense_Mutation	SNP	ENST00000326181.6	37	c.1943C>T	CCDS10461.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057413	0.76074	.	.	ENSG00000131653	ENST00000326181	T	0.61859	0.07	4.99	4.99	0.66335	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	M	0.64080	1.96	0.80722	D	1	D	0.59357	0.985	P	0.46208	0.507	T	0.67941	-0.5540	10	0.62326	D	0.03	-34.4038	17.4344	0.87547	0.0:1.0:0.0:0.0	.	648	Q6Q0C0	TRAF7_HUMAN	V	648	ENSP00000318944:A648V	ENSP00000318944:A648V	A	+	2	0	TRAF7	2166331	1.000000	0.71417	0.214000	0.23707	0.737000	0.42083	6.915000	0.75770	2.599000	0.87857	0.563000	0.77884	GCG		0.642	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		6	12	0	0	0	1	0	6	12				
COLGALT1	79709	broad.mit.edu	37	19	17688792	17688792	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:17688792C>T	ENST00000252599.4	+	9	1280	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	387					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										CAGGTGGAGGCGCTGGGGATC	0.642																																						ENST00000252599.4																			0											c.(1159-1161)gCg>gTg		collagen beta(1-O)galactosyltransferase 1							55.0	52.0	53.0					19																	17688792		2203	4300	6503	SO:0001583	missense	79709							g.chr19:17688792C>T	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1160C>T	19.37:g.17688792C>T	ENSP00000252599:p.Ala387Val						p.A387V	NM_024656.2	NP_078932.2					9	1280	+								Q8NC64	Missense_Mutation	SNP	ENST00000252599.4	37	c.1160C>T	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672764	0.67928	.	.	ENSG00000130309	ENST00000379714;ENST00000252599	T	0.78481	-1.18	5.03	3.98	0.46160	.	0.233792	0.42682	D	0.000662	T	0.81240	0.4781	L	0.57130	1.785	0.47862	D	0.999535	D;D	0.63880	0.993;0.973	P;P	0.58620	0.842;0.684	T	0.78710	-0.2098	10	0.33141	T	0.24	-15.4631	10.6404	0.45590	0.3482:0.6518:0.0:0.0	.	115;387	E9PC06;Q8NBJ5	.;GT251_HUMAN	V	115;387	ENSP00000252599:A387V	ENSP00000252599:A387V	A	+	2	0	GLT25D1	17549792	0.051000	0.20477	0.826000	0.32828	0.513000	0.34164	0.481000	0.22260	1.097000	0.41459	0.313000	0.20887	GCG		0.642	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		23	36	0	0	0	1	0	23	36				
LRP3	4037	broad.mit.edu	37	19	33697253	33697253	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:33697253G>A	ENST00000253193.7	+	5	1779	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	526					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					TACTCACTGCGCACGCAGGAA	0.657																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(1576-1578)cGc>cAc		low density lipoprotein receptor-related protein 3							18.0	20.0	19.0					19																	33697253		2198	4290	6488	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33697253G>A	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1577G>A	19.37:g.33697253G>A	ENSP00000253193:p.Arg526His						p.R526H	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			5	1779	+	Esophageal squamous(110;0.137)		526					B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.1577G>A	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389088	0.82902	.	.	ENSG00000130881	ENST00000253193	D	0.91124	-2.79	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.93867	0.8038	L	0.52905	1.665	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.68621	0.925;0.959	D	0.94396	0.7618	10	0.72032	D	0.01	-44.6616	17.7181	0.88343	0.0:0.0:1.0:0.0	.	526;444	O75074;B7ZAJ9	LRP3_HUMAN;.	H	526	ENSP00000253193:R526H	ENSP00000253193:R526H	R	+	2	0	LRP3	38389093	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	9.818000	0.99354	2.437000	0.82529	0.491000	0.48974	CGC		0.657	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			8	17	0	0	0	1	0	8	17				
PIPSL	266971	broad.mit.edu	37	10	95721253	95721253	+	RNA	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:95721253G>A	ENST00000480546.1	-	0	44					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										GGAGGCCGACGCCATCTTGGC	0.572																																						ENST00000480546.1																			0																																																			0							g.chr10:95721253G>A	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95721253G>A								NR_002319.2						0	44	-								Q6NUK8	RNA	SNP	ENST00000480546.1	37																																																																																						0.572	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		6	90	0	0	0	1	0	6	90				
MYL12B	103910	broad.mit.edu	37	18	3272921	3272921	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:3272921A>G	ENST00000581193.1	+	2	408	c.25A>G	c.(25-27)Aag>Gag	p.K9E	MYL12B_ENST00000400175.5_Missense_Mutation_p.K9E|MYL12B_ENST00000237500.5_Missense_Mutation_p.K9E|MYL12B_ENST00000584539.1_Missense_Mutation_p.K9E	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN	myosin, light chain 12B, regulatory	9					axon guidance (GO:0007411)|muscle contraction (GO:0006936)|regulation of cell shape (GO:0008360)	apical part of cell (GO:0045177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)|lung(2)	4						GGCAAAGACCAAGACCACCAA	0.388																																						ENST00000581193.1																			0				breast(1)|large_intestine(1)|lung(2)	4						c.(25-27)Aag>Gag		myosin, light chain 12B, regulatory							141.0	130.0	133.0					18																	3272921		2203	4300	6503	SO:0001583	missense	103910				axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding	g.chr18:3272921A>G	AY320408	CCDS11831.1	18p11.31	2013-01-10			ENSG00000118680	ENSG00000118680		"""Myosins / Light chain"", ""EF-hand domain containing"""	29827	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2"""	609211				11942626	Standard	NM_033546		Approved	MRLC2	uc002klt.4	O14950	OTTHUMG00000131510	ENST00000581193.1:c.25A>G	18.37:g.3272921A>G	ENSP00000463559:p.Lys9Glu					MYL12B_ENST00000237500.5_Missense_Mutation_p.K9E|MYL12B_ENST00000400175.5_Missense_Mutation_p.K9E|MYL12B_ENST00000584539.1_Missense_Mutation_p.K9E	p.K9E	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN			2	408	+			9					D3DUH6|Q13182|Q7Z5Z4	Missense_Mutation	SNP	ENST00000581193.1	37	c.25A>G	CCDS11831.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.950993	0.73787	.	.	ENSG00000118680	ENST00000237500;ENST00000400177;ENST00000400175;ENST00000400174	T;T	0.74421	-0.84;-0.84	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.68577	0.3016	L	0.45352	1.415	0.58432	D	0.999999	P	0.35124	0.485	B	0.32980	0.156	T	0.72114	-0.4388	10	0.72032	D	0.01	.	15.8573	0.78989	1.0:0.0:0.0:0.0	.	9	O14950	ML12B_HUMAN	E	9	ENSP00000237500:K9E;ENSP00000383037:K9E	ENSP00000237500:K9E	K	+	1	0	MYL12B	3262921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.287000	0.95975	2.197000	0.70478	0.528000	0.53228	AAG		0.388	MYL12B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258908.1	NM_033546		29	73	0	0	0	1	0	29	73				
MYRIP	25924	broad.mit.edu	37	3	40251426	40251426	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:40251426C>T	ENST00000302541.6	+	11	2089	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	MYRIP_ENST00000444716.1_Missense_Mutation_p.R583W|MYRIP_ENST00000396217.3_Missense_Mutation_p.R494W|MYRIP_ENST00000425621.1_Missense_Mutation_p.R583W|RN7SL411P_ENST00000585204.1_RNA|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.R396W	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	583	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)	p.R583W(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGAGGAGAAACGGAGAAACAG	0.478																																						ENST00000302541.6																			1	Substitution - Missense(1)	p.R583W(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1747-1749)Cgg>Tgg		myosin VIIA and Rab interacting protein							102.0	97.0	99.0					3																	40251426		2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40251426C>T	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1747C>T	3.37:g.40251426C>T	ENSP00000301972:p.Arg583Trp					MYRIP_ENST00000539167.1_Missense_Mutation_p.R396W|MYRIP_ENST00000425621.1_Missense_Mutation_p.R583W|MYRIP_ENST00000396217.3_Missense_Mutation_p.R494W|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Missense_Mutation_p.R583W	p.R583W	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	11	2089	+			583			Actin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.1747C>T	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637844	0.67130	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.54	3.68	0.42216	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.827269	0.10705	N	0.643516	T	0.28764	0.0713	N	0.22421	0.69	0.24998	N	0.99149	D;D;D	0.69078	0.997;0.987;0.983	P;P;P	0.53722	0.733;0.528;0.545	T	0.18398	-1.0338	9	.	.	.	.	12.701	0.57032	0.0:0.5587:0.4413:0.0	.	494;583;583	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	W	583;583;583;494;396	ENSP00000398665:R583W;ENSP00000301972:R583W;ENSP00000389323:R583W;ENSP00000379519:R494W;ENSP00000438297:R396W	.	R	+	1	2	MYRIP	40226430	0.918000	0.31147	0.811000	0.32455	0.893000	0.52053	1.311000	0.33562	0.590000	0.29694	0.655000	0.94253	CGG		0.478	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		5	80	0	0	0	1	0	5	80				
SLCO5A1	81796	broad.mit.edu	37	8	70744219	70744219	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:70744219C>T	ENST00000260126.4	-	2	1396	c.690G>A	c.(688-690)tcG>tcA	p.S230S	SLCO5A1_ENST00000524945.1_Silent_p.S230S|SLCO5A1_ENST00000530307.1_Silent_p.S230S|RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000528800.2_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CGTTGGGGGCCGAGGCGTTCA	0.632																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(688-690)tcG>tcA		solute carrier organic anion transporter family, member 5A1							30.0	36.0	34.0					8																	70744219		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744219C>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.690G>A	8.37:g.70744219C>T						SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Silent_p.S230S|SLCO5A1_ENST00000530307.1_Silent_p.S230S	p.S230S	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1396	-	Breast(64;0.0654)		230					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.690G>A	CCDS6205.1																																																																																				0.632	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		15	24	0	0	0	1	0	15	24				
CPEB1	64506	broad.mit.edu	37	15	83221233	83221233	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:83221233C>A	ENST00000562019.1	-	8	1528	c.1212G>T	c.(1210-1212)aaG>aaT	p.K404N	CPEB1_ENST00000563800.1_Missense_Mutation_p.K426N|CPEB1_ENST00000568757.1_Missense_Mutation_p.K324N|CPEB1_ENST00000398592.2_Missense_Mutation_p.K173N|CPEB1_ENST00000398591.2_Missense_Mutation_p.K329N|CPEB1_ENST00000450751.2_Missense_Mutation_p.K324N|CPEB1_ENST00000423133.2_Missense_Mutation_p.K324N|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.R134M|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000261723.6_Missense_Mutation_p.K402N|CPEB1_ENST00000564522.1_Missense_Mutation_p.K324N|CPEB1_ENST00000568128.1_Missense_Mutation_p.K399N			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	404	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			AACTCACCTCCTTGCAGCGCA	0.522																																						ENST00000563800.1																			0				breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28						c.(1276-1278)aaG>aaT		cytoplasmic polyadenylation element binding protein 1							64.0	63.0	63.0					15																	83221233		2120	4247	6367	SO:0001583	missense	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83221233C>A	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.1212G>T	15.37:g.83221233C>A	ENSP00000457836:p.Lys404Asn					CPEB1_ENST00000564522.1_Missense_Mutation_p.K324N|CPEB1_ENST00000562019.1_Missense_Mutation_p.K404N|CPEB1_ENST00000450751.2_Missense_Mutation_p.K324N|CPEB1_ENST00000423133.2_Missense_Mutation_p.K324N|CPEB1_ENST00000398591.2_Missense_Mutation_p.K329N|CPEB1_ENST00000398592.2_Missense_Mutation_p.K173N|CPEB1_ENST00000261723.6_Missense_Mutation_p.K402N|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.R134M|CPEB1_ENST00000568757.1_Missense_Mutation_p.K324N|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.K399N	p.K426N			Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		8	3003	-			404			Necessary for stress granule assembly and correct localization in dcp1 bodies.		B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37	c.1278G>T		.	.	.	.	.	.	.	.	.	.	C	18.79	3.699326	0.68501	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	5.84	2.94	0.34122	RNA recognition motif domain (1);	0.000000	0.85682	U	0.000000	T	0.33000	0.0848	M	0.86953	2.85	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.997;1.0	D;D;D;D	0.91635	0.997;0.999;0.976;0.999	T	0.05767	-1.0865	10	0.87932	D	0	-10.669	7.6486	0.28336	0.0:0.6303:0.0:0.3697	.	402;399;404;399	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	N	399;399;324;329;402;173	ENSP00000397526:K324N;ENSP00000381591:K329N;ENSP00000261723:K402N;ENSP00000381592:K173N	ENSP00000261723:K402N	K	-	3	2	CPEB1	81018288	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.543000	0.36147	0.804000	0.34136	-0.251000	0.11542	AAG		0.522	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		7	27	1	0	1.26484e-09	1	1.33787e-09	7	27				
ANO1	55107	broad.mit.edu	37	11	70031720	70031720	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:70031720G>A	ENST00000355303.5	+	25	2918	c.2613G>A	c.(2611-2613)ccG>ccA	p.P871P	ANO1_ENST00000525494.1_3'UTR|ANO1-AS1_ENST00000524987.1_RNA|ANO1_ENST00000530676.1_Silent_p.P725P|ANO1_ENST00000398543.2_Silent_p.P725P|ANO1_ENST00000531349.1_Silent_p.P580P|ANO1_ENST00000538023.1_Silent_p.P871P	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	871					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GAGAGCCGCCGTGGTCGGAAA	0.607																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(2611-2613)ccG>ccA		anoctamin 1, calcium activated chloride channel							92.0	101.0	98.0					11																	70031720		1940	4141	6081	SO:0001819	synonymous_variant	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70031720G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2613G>A	11.37:g.70031720G>A						ANO1_ENST00000398543.2_Silent_p.P725P|ANO1_ENST00000530676.1_Silent_p.P725P|ANO1_ENST00000531349.1_Silent_p.P580P|ANO1_ENST00000538023.1_Silent_p.P871P|ANO1_ENST00000525494.1_3'UTR	p.P871P	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			25	2918	+			871					A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	ENST00000355303.5	37	c.2613G>A	CCDS44663.1																																																																																				0.607	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		11	34	0	0	0	1	0	11	34				
NEU4	129807	broad.mit.edu	37	2	242755694	242755694	+	Missense_Mutation	SNP	C	C	T	rs376890171		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:242755694C>T	ENST00000391969.2	+	3	724	c.13C>T	c.(13-15)Cgt>Tgt	p.R5C	NEU4_ENST00000404257.1_Missense_Mutation_p.R17C|NEU4_ENST00000325935.6_Missense_Mutation_p.R18C|AC114730.3_ENST00000420272.2_RNA|NEU4_ENST00000405370.1_Missense_Mutation_p.R5C|NEU4_ENST00000407683.1_Missense_Mutation_p.R5C	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	5					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GGGGGTCCCTCGTACCCCTTC	0.701																																						ENST00000391969.2																			0				breast(1)|lung(10)|prostate(2)|skin(2)	15						c.(13-15)Cgt>Tgt		sialidase 4							34.0	35.0	35.0					2																	242755694		2203	4300	6503	SO:0001583	missense	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242755694C>T	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.13C>T	2.37:g.242755694C>T	ENSP00000375830:p.Arg5Cys					NEU4_ENST00000407683.1_Missense_Mutation_p.R5C|NEU4_ENST00000405370.1_Missense_Mutation_p.R5C|NEU4_ENST00000404257.1_Missense_Mutation_p.R17C|NEU4_ENST00000325935.6_Missense_Mutation_p.R18C	p.R5C	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	3	724	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	5					A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	c.13C>T	CCDS54442.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.42|14.42	2.529259|2.529259	0.44969|0.44969	.|.	.|.	ENSG00000204099|ENSG00000204099	ENST00000407683;ENST00000415936;ENST00000405370;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000435934;ENST00000435894;ENST00000426032;ENST00000420288;ENST00000428592|ENST00000472793	T;T;T;T;T;T;T;T;T;T;T|.	0.78924|.	-1.05;1.33;-1.05;-0.31;2.95;-1.05;2.95;1.49;1.34;-1.22;2.95|.	3.65|3.65	-0.172|-0.172	0.13327|0.13327	.|.	0.615494|.	0.16403|.	U|.	0.215950|.	T|T	0.26448|0.26448	0.0646|0.0646	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	D;D;D|.	0.71674|.	0.997;0.998;0.987|.	P;P;P|.	0.53649|.	0.543;0.731;0.505|.	T|T	0.32693|0.32693	-0.9897|-0.9897	10|6	0.38643|0.87932	T|D	0.18|0	-0.1264|-0.1264	6.8668|6.8668	0.24098|0.24098	0.3005:0.5979:0.0:0.1016|0.3005:0.5979:0.0:0.1016	.|.	17;17;5|.	A8K211;Q8WWR8-2;Q8WWR8|.	.;.;NEUR4_HUMAN|.	C|L	5;5;5;5;17;5;18;44;5;17;5;46|28	ENSP00000385402:R5C;ENSP00000397167:R5C;ENSP00000384804:R5C;ENSP00000397860:R5C;ENSP00000385149:R17C;ENSP00000375830:R5C;ENSP00000320318:R18C;ENSP00000398571:R5C;ENSP00000406678:R17C;ENSP00000388707:R5C;ENSP00000396197:R46C|.	ENSP00000320318:R18C|ENSP00000441629:S28L	R|S	+|+	1|2	0|0	NEU4|NEU4	242404367|242404367	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.012000|0.012000	0.07955|0.07955	1.165000|1.165000	0.31822|0.31822	0.465000|0.465000	0.27167|0.27167	0.443000|0.443000	0.29094|0.29094	CGT|TCG		0.701	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		4	33	0	0	0	1	0	4	33				
POLG2	11232	broad.mit.edu	37	17	62492847	62492847	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:62492847A>G	ENST00000539111.2	-	1	307	c.240T>C	c.(238-240)agT>agC	p.S80S		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	80					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			GCTTGCTTCCACTTAGGAAAT	0.612																																					Colon(3;18 21 435 17652 48887)	ENST00000539111.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(238-240)agT>agC		polymerase (DNA directed), gamma 2, accessory subunit							92.0	93.0	93.0					17																	62492847		2203	4300	6503	SO:0001819	synonymous_variant	11232				DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	g.chr17:62492847A>G	U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"""DNA polymerases"""	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.240T>C	17.37:g.62492847A>G							p.S80S	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;4.97e-11)		1	307	-	Breast(5;2.15e-14)		80					O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Silent	SNP	ENST00000539111.2	37	c.240T>C	CCDS32706.1																																																																																				0.612	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		22	62	0	0	0	1	0	22	62				
PTGFRN	5738	broad.mit.edu	37	1	117516856	117516856	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:117516856C>A	ENST00000393203.2	+	7	2225	c.2078C>A	c.(2077-2079)tCt>tAt	p.S693Y	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	693	Ig-like C2-type 6.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TTTAATGCTTCTGTGCATTCA	0.423																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2077-2079)tCt>tAt		prostaglandin F2 receptor inhibitor							186.0	196.0	193.0					1																	117516856		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117516856C>A	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2078C>A	1.37:g.117516856C>A	ENSP00000376899:p.Ser693Tyr					PTGFRN_ENST00000496699.1_3'UTR	p.S693Y	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	7	2225	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	693			Ig-like C2-type 6.		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.2078C>A	CCDS890.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965920	0.74131	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.03982	3.74	5.74	5.74	0.90152	Immunoglobulin-like (1);	0.137479	0.50627	D	0.000101	T	0.11623	0.0283	L	0.57536	1.79	0.53688	D	0.999974	D	0.76494	0.999	D	0.72982	0.979	T	0.00645	-1.1629	10	0.52906	T	0.07	-20.0722	15.4328	0.75116	0.0:1.0:0.0:0.0	.	693	Q9P2B2	FPRP_HUMAN	Y	693;552	ENSP00000376899:S693Y	ENSP00000376899:S693Y	S	+	2	0	PTGFRN	117318379	0.997000	0.39634	1.000000	0.80357	0.867000	0.49689	3.802000	0.55553	2.720000	0.93068	0.650000	0.86243	TCT		0.423	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		32	61	1	0	5.91797e-21	1	6.44568e-21	32	61				
FOXG1	2290	broad.mit.edu	37	14	29237390	29237390	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:29237390G>A	ENST00000313071.4	+	1	1104	c.905G>A	c.(904-906)cGc>cAc	p.R302H	RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.R302H|RP11-966I7.1_ENST00000551395.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	302				RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038). {ECO:0000305}.	aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TTCATGGACCGCGCCGGCTCC	0.701																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(904-906)cGc>cAc		forkhead box G1							45.0	55.0	52.0					14																	29237390		2203	4299	6502	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237390G>A		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.905G>A	14.37:g.29237390G>A	ENSP00000339004:p.Arg302His					FOXG1_ENST00000313071.4_Missense_Mutation_p.R302H	p.R302H			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	1274	+			302	RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038).				A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.905G>A	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123284	0.77436	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93604	-3.25;-3.25	4.19	4.19	0.49359	.	0.068043	0.56097	U	0.000027	D	0.91925	0.7443	L	0.27053	0.805	0.58432	D	0.999998	D	0.71674	0.998	P	0.53450	0.726	D	0.92575	0.6069	10	0.49607	T	0.09	.	16.0962	0.81127	0.0:0.0:1.0:0.0	.	302	P55316	FOXG1_HUMAN	H	302	ENSP00000371975:R302H;ENSP00000339004:R302H	ENSP00000339004:R302H	R	+	2	0	FOXG1	28307141	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.851000	0.86920	1.868000	0.54150	0.313000	0.20887	CGC		0.701	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			23	55	0	0	0	1	0	23	55				
NR3C2	4306	broad.mit.edu	37	4	149002640	149002640	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:149002640T>A	ENST00000358102.3	-	9	3172	c.2810A>T	c.(2809-2811)gAc>gTc	p.D937V	NR3C2_ENST00000344721.4_Missense_Mutation_p.D937V|NR3C2_ENST00000511528.1_Missense_Mutation_p.D941V|NR3C2_ENST00000355292.3_Missense_Mutation_p.D941V|NR3C2_ENST00000512865.1_Missense_Mutation_p.D820V	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	937	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TTCCAGCAGGTCGCTCACCAG	0.572																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2821-2823)gAc>gTc		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						48.0	47.0	47.0					4																	149002640		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149002640T>A	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2810A>T	4.37:g.149002640T>A	ENSP00000350815:p.Asp937Val					NR3C2_ENST00000512865.1_Missense_Mutation_p.D820V|NR3C2_ENST00000344721.4_Missense_Mutation_p.D937V|NR3C2_ENST00000342437.4_3'UTR|NR3C2_ENST00000511528.1_Missense_Mutation_p.D941V|NR3C2_ENST00000358102.3_Missense_Mutation_p.D937V	p.D941V			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	9	3184	-	all_hematologic(180;0.151)		937			Steroid-binding.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.2822A>T	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	T	19.18	3.777759	0.70107	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000511528	D;D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69;-3.69	5.92	5.92	0.95590	.	0.102279	0.64402	D	0.000002	D	0.95030	0.8391	L	0.36672	1.1	0.80722	D	1	D;D	0.60575	0.988;0.962	P;P	0.54965	0.765;0.662	D	0.94326	0.7558	9	.	.	.	.	16.3636	0.83296	0.0:0.0:0.0:1.0	.	820;937	B0ZBF5;B0ZBF6	.;.	V	937;941;937;820;941	ENSP00000341390:D937V;ENSP00000347441:D941V;ENSP00000350815:D937V;ENSP00000423510:D820V;ENSP00000421481:D941V	.	D	-	2	0	NR3C2	149222090	1.000000	0.71417	0.993000	0.49108	0.929000	0.56500	4.602000	0.61098	2.267000	0.75376	0.528000	0.53228	GAC		0.572	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			17	29	0	0	0	1	0	17	29				
PPHLN1	51535	broad.mit.edu	37	12	42778750	42778750	+	Missense_Mutation	SNP	C	C	T	rs144485658		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:42778750C>T	ENST00000395568.2	+	6	604	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C	PPHLN1_ENST00000337898.6_Missense_Mutation_p.R119C|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000552761.1_Missense_Mutation_p.R126C|PPHLN1_ENST00000358314.7_Missense_Mutation_p.R174C|PPHLN1_ENST00000432191.2_Missense_Mutation_p.R119C|PPHLN1_ENST00000395580.3_Missense_Mutation_p.R181C|PPHLN1_ENST00000549190.1_Missense_Mutation_p.R192C	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	174	Ser-rich.				keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R174C(2)		breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		AGAGTCCGTGCGTCCTGGTGC	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20599	0.0		0.0	False		,,,				2504	0.0					ENST00000432191.2																			2	Substitution - Missense(2)	p.R174C(2)	large_intestine(2)	breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(355-357)Cgt>Tgt		periphilin 1		C	CYS/ARG,,,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	124.0	105.0	111.0		355,,,520,376,520,376,541	4.5	0.8	12	dbSNP_134	111	0,8600		0,0,4300	no	missense,intron,intron,missense,missense,missense,missense,missense	PPHLN1	NM_001143787.1,NM_001143788.1,NM_001143789.1,NM_016488.6,NM_201438.1,NM_201439.1,NM_201440.1,NM_201515.1	180,,,180,180,180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,,,benign,benign,benign,benign,benign	119/435,,,174/459,126/259,174/368,126/320,181/375	42778750	1,13005	2203	4300	6503	SO:0001583	missense	51535				keratinization	cytoplasm|nucleus		g.chr12:42778750C>T	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.520C>T	12.37:g.42778750C>T	ENSP00000378935:p.Arg174Cys					PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395568.2_Missense_Mutation_p.R174C|PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000337898.6_Missense_Mutation_p.R119C|PPHLN1_ENST00000395580.3_Missense_Mutation_p.R181C|PPHLN1_ENST00000358314.7_Missense_Mutation_p.R174C|PPHLN1_ENST00000549190.1_Missense_Mutation_p.R192C|PPHLN1_ENST00000552761.1_Missense_Mutation_p.R126C	p.R119C	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN		GBM - Glioblastoma multiforme(48;0.0875)	5	427	+	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)	174					E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	ENST00000395568.2	37	c.355C>T	CCDS31777.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850235	0.71719	2.27E-4	0.0	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000337898;ENST00000358314;ENST00000395568;ENST00000552761;ENST00000432191	.	.	.	5.4	4.49	0.54785	.	0.394307	0.23351	N	0.049131	T	0.65974	0.2743	L	0.47716	1.5	0.40396	D	0.97959	D;D;D;D;D;D;D	0.89917	0.997;1.0;0.999;0.999;0.998;0.998;0.998	P;D;P;P;P;P;P	0.65010	0.642;0.931;0.759;0.736;0.731;0.736;0.804	T	0.66089	-0.6010	9	0.41790	T	0.15	-1.0689	11.8718	0.52525	0.0:0.8248:0.1752:0.0	.	119;119;174;126;181;126;192	B7Z8L1;Q8NEY8-3;Q8NEY8;Q8NEY8-6;Q8NEY8-2;Q8NEY8-5;F8W0Q9	.;.;PPHLN_HUMAN;.;.;.;.	C	192;181;119;174;174;126;119	.	ENSP00000338510:R119C	R	+	1	0	PPHLN1	41065017	0.998000	0.40836	0.831000	0.32960	0.919000	0.55068	1.995000	0.40767	1.464000	0.47987	0.655000	0.94253	CGT		0.498	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		12	30	0	0	0	1	0	12	30				
ALKBH1	8846	broad.mit.edu	37	14	78140481	78140481	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:78140481T>C	ENST00000216489.3	-	6	859	c.844A>G	c.(844-846)Agc>Ggc	p.S282G		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	282	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		AAGAGGCGGCTGAAACCCGAC	0.577																																						ENST00000216489.3																			0				endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						c.(844-846)Agc>Ggc		alkB, alkylation repair homolog 1 (E. coli)							53.0	48.0	50.0					14																	78140481		2203	4300	6503	SO:0001583	missense	8846				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:78140481T>C	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"""Alkylation repair homologs"""	17911	protein-coding gene	gene with protein product		605345	"""alkB, alkylation repair homolog (E. coli)"""	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.844A>G	14.37:g.78140481T>C	ENSP00000216489:p.Ser282Gly						p.S282G	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	6	859	-			282			Fe2OG dioxygenase.		Q8TAU1|Q9ULA7	Missense_Mutation	SNP	ENST00000216489.3	37	c.844A>G	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	T	32	5.124009	0.94429	.	.	ENSG00000100601	ENST00000216489	T	0.13307	2.6	5.95	5.95	0.96441	Oxoglutarate/iron-dependent oxygenase (1);	0.000000	0.85682	D	0.000000	T	0.39809	0.1092	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.20042	-1.0287	10	0.72032	D	0.01	-15.8025	16.4237	0.83790	0.0:0.0:0.0:1.0	.	282	Q13686	ALKB1_HUMAN	G	282	ENSP00000216489:S282G	ENSP00000216489:S282G	S	-	1	0	ALKBH1	77210234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.604000	0.82830	2.279000	0.76181	0.533000	0.62120	AGC		0.577	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		11	22	0	0	0	1	0	11	22				
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:47696426A>C	ENST00000393328.2	-	6	762	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000393331.3_Missense_Mutation_p.F133V	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.F133V(4)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)Ttc>Gtc		speckle-type POZ protein							119.0	121.0	120.0					17																	47696426		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696426A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.397T>G	17.37:g.47696426A>C	ENSP00000377001:p.Phe133Val	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V	p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	867	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.397T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550963	0.86127	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.94021	3.485	0.80722	D	1	P	0.35155	0.487	P	0.49637	0.617	T	0.74861	-0.3520	10	0.66056	D	0.02	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	V	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133V;ENSP00000377004:F133V;ENSP00000240327:F133V;ENSP00000425905:F133V;ENSP00000420908:F133V;ENSP00000426986:F133V;ENSP00000420960:F133V;ENSP00000426262:F133V;ENSP00000424119:F133V	ENSP00000240327:F133V	F	-	1	0	SPOP	45051425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		35	68	0	0	0	1	0	35	68				
RACGAP1	29127	broad.mit.edu	37	12	50400278	50400278	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:50400278C>T	ENST00000427314.2	-	5	450	c.227G>A	c.(226-228)cGt>cAt	p.R76H	RACGAP1_ENST00000312377.5_Missense_Mutation_p.R76H|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R76H|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R76H|RACGAP1_ENST00000454520.2_Missense_Mutation_p.R76H|RACGAP1_ENST00000434422.1_Missense_Mutation_p.R76H	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CACCTGATTACGTGCATGCTT	0.478																																						ENST00000434422.1																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						c.(226-228)cGt>cAt		Rac GTPase activating protein 1							228.0	185.0	200.0					12																	50400278		2203	4300	6503	SO:0001583	missense	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50400278C>T		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.227G>A	12.37:g.50400278C>T	ENSP00000404190:p.Arg76His					RACGAP1_ENST00000427314.2_Missense_Mutation_p.R76H|RACGAP1_ENST00000454520.2_Missense_Mutation_p.R76H|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R76H|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R76H|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R76H	p.R76H			Q9H0H5	RGAP1_HUMAN			4	528	-			76						Missense_Mutation	SNP	ENST00000427314.2	37	c.227G>A	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595715	0.66219	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000552310;ENST00000546595;ENST00000551145;ENST00000548824;ENST00000548644;ENST00000546723;ENST00000552921;ENST00000552157;ENST00000546764;ENST00000551876;ENST00000549777;ENST00000550651;ENST00000552004	D;D;D;D;D;D;D;D;D;T;T;T;T;D;T;T;T;T;T	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.13;-1.13;-1.13;-1.13;-1.66;-1.13;-1.13;-1.13;-1.13;-1.13	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.79323	0.4426	L	0.59436	1.845	0.80722	D	1	P	0.42757	0.789	B	0.30943	0.122	T	0.82608	-0.0373	10	0.59425	D	0.04	-3.5486	19.3535	0.94401	0.0:1.0:0.0:0.0	.	76	Q9H0H5	RGAP1_HUMAN	H	76;76;76;76;76;76;76;18;18;76;88;76;76;18;76;76;76;76;76	ENSP00000404190:R76H;ENSP00000309871:R76H;ENSP00000413241:R76H;ENSP00000404808:R76H;ENSP00000449374:R76H;ENSP00000449370:R76H;ENSP00000448697:R76H;ENSP00000449963:R18H;ENSP00000450064:R18H;ENSP00000449170:R76H;ENSP00000449620:R88H;ENSP00000449669:R76H;ENSP00000447393:R76H;ENSP00000448968:R18H;ENSP00000447177:R76H;ENSP00000449186:R76H;ENSP00000448707:R76H;ENSP00000449959:R76H;ENSP00000448136:R76H	ENSP00000309871:R76H	R	-	2	0	RACGAP1	48686545	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.580000	0.87095	0.655000	0.94253	CGT		0.478	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		37	61	0	0	0	1	0	37	61				
ZNF750	79755	broad.mit.edu	37	17	80788498	80788498	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:80788498C>T	ENST00000269394.3	-	3	2525	c.1692G>A	c.(1690-1692)ccG>ccA	p.P564P	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Silent_p.P165P|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	564					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGCAGGCCTCGGAGCCTGGG	0.627																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(1690-1692)ccG>ccA		zinc finger protein 750							60.0	65.0	63.0					17																	80788498		2203	4300	6503	SO:0001819	synonymous_variant	79755					intracellular	zinc ion binding	g.chr17:80788498C>T	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1692G>A	17.37:g.80788498C>T						ZNF750_ENST00000572562.1_Silent_p.P165P|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	p.P564P	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		3	2525	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	564					Q9H899	Silent	SNP	ENST00000269394.3	37	c.1692G>A	CCDS11819.1																																																																																				0.627	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		14	75	0	0	0	1	0	14	75				
GPR64	10149	broad.mit.edu	37	X	19037719	19037719	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:19037719C>T	ENST00000379869.3	-	15	871	c.708G>A	c.(706-708)caG>caA	p.Q236Q	GPR64_ENST00000357991.3_Silent_p.Q233Q|GPR64_ENST00000360279.4_Silent_p.Q214Q|GPR64_ENST00000379876.1_Silent_p.Q212Q|GPR64_ENST00000357544.3_Silent_p.Q206Q|GPR64_ENST00000356606.4_Silent_p.Q222Q|GPR64_ENST00000379873.2_Silent_p.Q236Q|GPR64_ENST00000379878.3_Silent_p.Q220Q|GPR64_ENST00000340581.3_Silent_p.Q206Q|GPR64_ENST00000354791.3_Silent_p.Q220Q	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	236					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TTACATACCACTGAAGCTTTT	0.398																																						ENST00000379878.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(658-660)caG>caA		G protein-coupled receptor 64							89.0	82.0	84.0					X																	19037719		2203	4300	6503	SO:0001819	synonymous_variant	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19037719C>T	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.708G>A	X.37:g.19037719C>T						GPR64_ENST00000357991.3_Silent_p.Q233Q|GPR64_ENST00000357544.3_Silent_p.Q206Q|GPR64_ENST00000360279.4_Silent_p.Q214Q|GPR64_ENST00000379873.2_Silent_p.Q236Q|GPR64_ENST00000379876.1_Silent_p.Q212Q|GPR64_ENST00000356606.4_Silent_p.Q222Q|GPR64_ENST00000379869.3_Silent_p.Q236Q|GPR64_ENST00000354791.3_Silent_p.Q220Q|GPR64_ENST00000340581.3_Silent_p.Q206Q	p.Q220Q	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN			14	901	-	Hepatocellular(33;0.183)		236					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	ENST00000379869.3	37	c.660G>A	CCDS43923.1																																																																																				0.398	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			8	15	0	0	0	1	0	8	15				
FAM208A	23272	broad.mit.edu	37	3	56682861	56682861	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:56682861C>T	ENST00000493960.2	-	13	1512	c.1502G>A	c.(1501-1503)aGc>aAc	p.S501N	FAM208A_ENST00000431842.2_Missense_Mutation_p.S105N|FAM208A_ENST00000355628.5_Missense_Mutation_p.S501N	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	501							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AGTAACTATGCTTCTAGGTTC	0.308																																						ENST00000431842.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(313-315)aGc>aAc		family with sequence similarity 208, member A							40.0	42.0	41.0					3																	56682861		2202	4297	6499	SO:0001583	missense	23272							g.chr3:56682861C>T	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.1502G>A	3.37:g.56682861C>T	ENSP00000417509:p.Ser501Asn					FAM208A_ENST00000355628.5_Missense_Mutation_p.S501N|FAM208A_ENST00000493960.2_Missense_Mutation_p.S501N	p.S105N	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			6	1238	-			501					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.314G>A	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028438	0.35797	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.12569	2.67;2.85;2.85	5.92	3.11	0.35812	.	0.767063	0.12184	N	0.491801	T	0.10121	0.0248	L	0.34521	1.04	0.20873	N	0.99984	B;B;B	0.24426	0.103;0.0;0.002	B;B;B	0.22601	0.04;0.0;0.001	T	0.34625	-0.9821	10	0.34782	T	0.22	7.5452	5.6352	0.17532	0.1174:0.643:0.1134:0.1261	.	501;501;105	Q9UK61-3;Q9UK61-4;Q9UK61-2	.;.;.	N	105;501;501	ENSP00000399410:S105N;ENSP00000417509:S501N;ENSP00000347845:S501N	ENSP00000347845:S501N	S	-	2	0	C3orf63	56657901	0.954000	0.32549	0.178000	0.23040	0.976000	0.68499	2.626000	0.46460	0.384000	0.24942	0.650000	0.86243	AGC		0.308	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		4	32	0	0	0	1	0	4	32				
ROPN1	54763	broad.mit.edu	37	3	123699209	123699209	+	Intron	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:123699209G>A	ENST00000184183.4	-	3	457				ROPN1_ENST00000405845.3_Intron|ROPN1_ENST00000459660.1_Silent_p.Y40Y|ROPN1_ENST00000495093.1_Silent_p.Y40Y|ROPN1_ENST00000479867.1_Silent_p.Y40Y|ROPN1_ENST00000484329.1_Silent_p.Y40Y	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1							cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		AAAGGAGCACGTACTCGGCTG	0.607																																						ENST00000479867.1																			0				lung(2)|ovary(1)|skin(1)	4						c.(118-120)taC>taT		rhophilin associated tail protein 1							73.0	70.0	71.0					3																	123699209		2203	4300	6503	SO:0001627	intron_variant	54763				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr3:123699209G>A	AF231410	CCDS3026.1	3q21.1	2011-01-20	2011-01-20			ENSG00000065371			17692	protein-coding gene	gene with protein product	"""cancer/testis antigen 91"""	611757	"""ropporin, rhophilin associated protein 1"""			10591629	Standard	NM_017578		Approved	ODF6, ropporin, ROPN1A, CT91	uc003eha.3	Q9HAT0		ENST00000184183.4:c.116+3C>T	3.37:g.123699209G>A						ROPN1_ENST00000184183.4_Intron|ROPN1_ENST00000495093.1_Silent_p.Y40Y|ROPN1_ENST00000484329.1_Silent_p.Y40Y|ROPN1_ENST00000459660.1_Silent_p.Y40Y|ROPN1_ENST00000405845.3_Intron	p.Y40Y			Q9HAT0	ROP1A_HUMAN		GBM - Glioblastoma multiforme(114;0.148)	2	368	-			40			RIIa.		D3DN99|Q9UF38	Silent	SNP	ENST00000184183.4	37	c.120C>T	CCDS3026.1																																																																																				0.607	ROPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356188.2	NM_017578		22	38	0	0	0	1	0	22	38				
EHD4	30844	broad.mit.edu	37	15	42193022	42193022	+	Missense_Mutation	SNP	C	C	T	rs200735207		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:42193022C>T	ENST00000220325.4	-	6	1530	c.1447G>A	c.(1447-1449)Gtc>Atc	p.V483I	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	483	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TTGCCCAGGACGCTGTTGGGC	0.567																																						ENST00000220325.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20						c.(1447-1449)Gtc>Atc		EH-domain containing 4							89.0	75.0	80.0					15																	42193022		2203	4299	6502	SO:0001583	missense	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42193022C>T	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1447G>A	15.37:g.42193022C>T	ENSP00000220325:p.Val483Ile						p.V483I	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	6	1530	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	483			EF-hand.|EH.		Q9HAR1|Q9NZN2	Missense_Mutation	SNP	ENST00000220325.4	37	c.1447G>A	CCDS10081.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202268	0.79127	.	.	ENSG00000103966	ENST00000220325	T	0.30182	1.54	4.83	4.83	0.62350	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.061506	0.64402	D	0.000005	T	0.31136	0.0787	L	0.54965	1.715	0.80722	D	1	P	0.41393	0.748	B	0.35413	0.202	T	0.25187	-1.0139	10	0.54805	T	0.06	-44.3363	18.2861	0.90114	0.0:1.0:0.0:0.0	.	483	Q9H223	EHD4_HUMAN	I	483	ENSP00000220325:V483I	ENSP00000220325:V483I	V	-	1	0	EHD4	39980314	1.000000	0.71417	0.839000	0.33178	0.966000	0.64601	7.759000	0.85235	2.394000	0.81467	0.543000	0.68304	GTC		0.567	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		4	41	0	0	0	1	0	4	41				
RIN3	79890	broad.mit.edu	37	14	93022190	93022190	+	Missense_Mutation	SNP	C	C	T	rs138055945		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:93022190C>T	ENST00000216487.7	+	2	298	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C		NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	47					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCTTCCTCACCGCCGGGGCAT	0.587																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(139-141)Cgc>Tgc		Ras and Rab interactor 3		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	64.0	60.0	61.0		139	4.0	0.0	14	dbSNP_134	61	0,8600		0,0,4300	no	missense	RIN3	NM_024832.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	47/986	93022190	1,13005	2203	4300	6503	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93022190C>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.139C>T	14.37:g.93022190C>T	ENSP00000216487:p.Arg47Cys						p.R47C	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			2	298	+		all_cancers(154;0.0701)	47					Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.139C>T	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259225	0.23051	2.27E-4	0.0	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.07688	3.17	4.9	3.99	0.46301	.	1.091330	0.07270	N	0.868946	T	0.07908	0.0198	N	0.19112	0.55	0.28290	N	0.923574	B	0.15473	0.013	B	0.04013	0.001	T	0.24728	-1.0152	10	0.72032	D	0.01	-1.4603	11.473	0.50280	0.0:0.9111:0.0:0.0889	.	47	Q8TB24	RIN3_HUMAN	C	47	ENSP00000216487:R47C	ENSP00000216487:R47C	R	+	1	0	RIN3	92091943	0.000000	0.05858	0.002000	0.10522	0.260000	0.26232	0.627000	0.24506	1.347000	0.45714	0.655000	0.94253	CGC		0.587	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			15	25	0	0	0	1	0	15	25				
BCL9	607	broad.mit.edu	37	1	147090766	147090766	+	Missense_Mutation	SNP	G	G	A	rs587637107		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:147090766G>A	ENST00000234739.3	+	8	1545	c.805G>A	c.(805-807)Gca>Aca	p.A269T		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	269	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CAAGCCTGCCGCACCCCCACG	0.607			T	"""IGH@, IGL@"""	B-ALL								G|||	1	0.000199681	0.0	0.0	5008	,	,		14685	0.0		0.0	False		,,,				2504	0.001					ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(805-807)Gca>Aca		B-cell CLL/lymphoma 9							53.0	56.0	55.0					1																	147090766		2202	4300	6502	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147090766G>A	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.805G>A	1.37:g.147090766G>A	ENSP00000234739:p.Ala269Thr						p.A269T	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	1545	+	all_hematologic(923;0.115)		269			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.805G>A	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382392	0.42207	.	.	ENSG00000116128	ENST00000234739	T	0.64438	-0.1	5.65	4.73	0.59995	.	0.478403	0.24922	N	0.034523	T	0.20414	0.0491	N	0.14661	0.345	0.09310	N	1	B;B	0.16603	0.018;0.018	B;B	0.06405	0.002;0.002	T	0.08452	-1.0721	10	0.15499	T	0.54	-1.4929	10.0703	0.42328	0.0712:0.1375:0.7913:0.0	.	269;269	Q1JQ81;O00512	.;BCL9_HUMAN	T	269	ENSP00000234739:A269T	ENSP00000234739:A269T	A	+	1	0	BCL9	145557390	0.999000	0.42202	0.090000	0.20809	0.989000	0.77384	4.026000	0.57232	1.620000	0.50308	0.655000	0.94253	GCA		0.607	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		29	63	0	0	0	1	0	29	63				
PDZRN3	23024	broad.mit.edu	37	3	73433999	73433999	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:73433999C>T	ENST00000263666.4	-	10	1832	c.1718G>A	c.(1717-1719)cGg>cAg	p.R573Q	PDZRN3_ENST00000535920.1_Missense_Mutation_p.R295Q|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R230Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R290Q|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R230Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	573					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTCGTCGGTCCGCCCCACACC	0.597																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1717-1719)cGg>cAg		PDZ domain containing ring finger 3							80.0	72.0	75.0					3																	73433999		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433999C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1718G>A	3.37:g.73433999C>T	ENSP00000263666:p.Arg573Gln					PDZRN3_ENST00000535920.1_Missense_Mutation_p.R295Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R290Q|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R230Q|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R230Q	p.R573Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	1832	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	573					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1718G>A	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.624814|4.624814	0.87560|0.87560	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	.|T;T;T;T;T;T	.|0.14022	.|2.54;3.24;3.14;3.14;3.25;3.21	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|0.186649	.|0.47852	.|D	.|0.000218	T|T	0.39226|0.39226	0.1070|0.1070	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;0.995;0.999;1.0	.|D;P;D;P	.|0.71656	.|0.974;0.539;0.942;0.85	T|T	0.25047|0.25047	-1.0143|-1.0143	5|10	.|0.52906	.|T	.|0.07	.|.	17.5919|17.5919	0.87999|0.87999	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|295;290;290;573	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	R|Q	170|573;295;230;230;290;573;271	.|ENSP00000263666:R573Q;ENSP00000442026:R295Q;ENSP00000418168:R230Q;ENSP00000418484:R230Q;ENSP00000418624:R290Q;ENSP00000419250:R271Q	.|ENSP00000263666:R573Q	G|R	-|-	1|2	0|0	PDZRN3|PDZRN3	73516689|73516689	1.000000|1.000000	0.71417|0.71417	0.863000|0.863000	0.33907|0.33907	0.969000|0.969000	0.65631|0.65631	7.468000|7.468000	0.80943|0.80943	2.464000|2.464000	0.83262|0.83262	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.597	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		12	19	0	0	0	1	0	12	19				
JADE3	9767	broad.mit.edu	37	X	46887491	46887491	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:46887491G>A	ENST00000218343.4	+	6	971	c.673G>A	c.(673-675)Gtc>Atc	p.V225I	PHF16_ENST00000397189.1_Missense_Mutation_p.V225I	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TAAGTGTAACGTCTGTGTGCA	0.488													G|||	1	0.000264901	0.0008	0.0	3775	,	,		15583	0.0		0.0	False		,,,				2504	0.0					ENST00000218343.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						c.(673-675)Gtc>Atc									362.0	217.0	267.0					X																	46887491		2203	4300	6503	SO:0001583	missense	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46887491G>A																												ENST00000218343.4:c.673G>A	X.37:g.46887491G>A	ENSP00000218343:p.Val225Ile					PHF16_ENST00000397189.1_Missense_Mutation_p.V225I	p.V225I	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN			6	971	+			225						Missense_Mutation	SNP	ENST00000218343.4	37	c.673G>A	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	5.002	0.186131	0.09495	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	D;D	0.87491	-2.26;-2.26	5.78	0.725	0.18242	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.092186	0.64402	N	0.000001	T	0.68192	0.2974	N	0.04148	-0.265	0.27040	N	0.964034	B	0.06786	0.001	B	0.10450	0.005	T	0.53851	-0.8380	9	.	.	.	.	9.5355	0.39220	0.745:0.0:0.255:0.0	.	225	Q92613	JADE3_HUMAN	I	225	ENSP00000380373:V225I;ENSP00000218343:V225I	.	V	+	1	0	PHF16	46772435	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	1.012000	0.29924	-0.227000	0.09884	-0.198000	0.12761	GTC		0.488	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			21	4	0	0	0	1	0	21	4				
C7orf60	154743	broad.mit.edu	37	7	112579785	112579785	+	Silent	SNP	G	G	A	rs573341242	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:112579785G>A	ENST00000297145.4	-	1	186	c.21C>T	c.(19-21)ggC>ggT	p.G7G	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	7							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CAGTATTTCGGCCGCCGGCCC	0.726													G|||	4	0.000798722	0.0	0.0	5008	,	,		8686	0.0		0.0	False		,,,				2504	0.0041					ENST00000297145.4																			0				breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(19-21)ggC>ggT		chromosome 7 open reading frame 60							11.0	13.0	12.0					7																	112579785		1809	4036	5845	SO:0001819	synonymous_variant	154743							g.chr7:112579785G>A		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.21C>T	7.37:g.112579785G>A							p.G7G	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN			1	186	-			7					Q8N3D0|Q96MV7	Silent	SNP	ENST00000297145.4	37	c.21C>T	CCDS43634.1																																																																																				0.726	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		6	9	0	0	0	1	0	6	9				
CIRBP	1153	broad.mit.edu	37	19	1271165	1271165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:1271165C>T	ENST00000588030.1	+	3	390	c.130C>T	c.(130-132)Cag>Tag	p.Q44*	CIRBP_ENST00000589686.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000585630.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000587896.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000320936.5_Nonsense_Mutation_p.Q44*|CIRBP-AS1_ENST00000600215.1_RNA|CIRBP_ENST00000586472.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000586773.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589235.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000587323.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000444172.2_Intron|CIRBP_ENST00000588090.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589660.1_Nonsense_Mutation_p.Q44*|CIRBP-AS1_ENST00000585832.1_RNA|CIRBP_ENST00000591935.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000413636.2_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588230.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589710.1_Nonsense_Mutation_p.Q44*			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	44	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA stabilization (GO:0048255)|positive regulation of translation (GO:0045727)|response to cold (GO:0009409)|response to UV (GO:0009411)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|small ribosomal subunit rRNA binding (GO:0070181)|translation repressor activity (GO:0030371)			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGAGACCCAGAGATCTCG	0.567																																						ENST00000589710.1																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(130-132)Cag>Tag		cold inducible RNA binding protein							108.0	110.0	109.0					19																	1271165		2203	4300	6503	SO:0001587	stop_gained	1153				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity	g.chr19:1271165C>T	D78134	CCDS12059.1, CCDS74244.1, CCDS74245.1	19p13.3	2013-02-12	2001-11-28		ENSG00000099622	ENSG00000099622		"""RNA binding motif (RRM) containing"""	1982	protein-coding gene	gene with protein product	"""Cold-inducible RNA-binding protein"", ""glycine-rich RNA binding protein"""	602649	"""cold inducible RNA-binding protein"""			9434172, 9151692	Standard	NM_001280		Approved	CIRP	uc002lrr.4	Q14011		ENST00000588030.1:c.130C>T	19.37:g.1271165C>T	ENSP00000468788:p.Gln44*					CIRBP_ENST00000586773.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000586472.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588090.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000591935.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000413636.2_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000587896.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000320936.5_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588230.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000585630.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000444172.2_Intron|CIRBP_ENST00000587323.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589660.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589686.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589235.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588030.1_Nonsense_Mutation_p.Q44*	p.Q44*			Q14011	CIRBP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	277	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)	44			RRM.		B3KT17|B4E2X2	Nonsense_Mutation	SNP	ENST00000588030.1	37	c.130C>T	CCDS12059.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790734	0.50102	.	.	ENSG00000099622	ENST00000320936;ENST00000413636	.	.	.	4.12	4.12	0.48240	.	0.282775	0.34460	U	0.003942	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-0.0693	10.4036	0.44243	0.1956:0.8044:0.0:0.0	.	.	.	.	X	44	.	ENSP00000322887:Q44X	Q	+	1	0	CIRBP	1222165	0.995000	0.38212	0.105000	0.21289	0.041000	0.13682	2.785000	0.47782	1.839000	0.53478	0.551000	0.68910	CAG		0.567	CIRBP-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449969.1	NM_001280		19	43	0	0	0	1	0	19	43				
PDZD2	23037	broad.mit.edu	37	5	32090466	32090466	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:32090466G>A	ENST00000438447.1	+	20	7300	c.6912G>A	c.(6910-6912)acG>acA	p.T2304T	PDZD2_ENST00000282493.3_Silent_p.T2304T			O15018	PDZD2_HUMAN	PDZ domain containing 2	2304					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCCAGGAGACGAGCTGCCTAG	0.483																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6910-6912)acG>acA		PDZ domain containing 2							99.0	100.0	100.0					5																	32090466		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090466G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6912G>A	5.37:g.32090466G>A						PDZD2_ENST00000282493.3_Silent_p.T2304T	p.T2304T			O15018	PDZD2_HUMAN			20	7300	+			2304					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.6912G>A	CCDS34137.1																																																																																				0.483	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			6	94	0	0	0	1	0	6	94				
PTPN3	5774	broad.mit.edu	37	9	112145796	112145796	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:112145796G>A	ENST00000374541.2	-	23	2393	c.2289C>T	c.(2287-2289)gaC>gaT	p.D763D	PTPN3_ENST00000262539.3_Silent_p.D609D|PTPN3_ENST00000394827.3_Silent_p.D231D|PTPN3_ENST00000446349.1_Silent_p.D587D|PTPN3_ENST00000412145.1_Silent_p.D632D	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	763	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.		D -> N (in dbSNP:rs10116806).		negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGTTCATGACGTCGGGGGGAT	0.562																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1894-1896)gaC>gaT		protein tyrosine phosphatase, non-receptor type 3							129.0	121.0	124.0					9																	112145796		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112145796G>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2289C>T	9.37:g.112145796G>A						PTPN3_ENST00000262539.3_Silent_p.D609D|PTPN3_ENST00000394827.3_Silent_p.D231D|PTPN3_ENST00000374541.2_Silent_p.D763D|PTPN3_ENST00000446349.1_Silent_p.D587D	p.D632D	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			18	4449	-			763					A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.1896C>T	CCDS6776.1																																																																																				0.562	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			12	46	0	0	0	1	0	12	46				
PRAMEF22	653606	broad.mit.edu	37	1	13036655	13036655	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:13036655G>A	ENST00000376187.1	+	2	727	c.727G>A	c.(727-729)Gat>Aat	p.D243N	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	243					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						CTTCATCTCCGATGGCTGTCG	0.478																																						ENST00000376187.1																			0				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(727-729)Gat>Aat		PRAME family member 22							70.0	89.0	82.0					1																	13036655		2193	4289	6482	SO:0001583	missense	653606							g.chr1:13036655G>A			1p36.21	2013-01-17			ENSG00000204508			"""-"""	34393	protein-coding gene	gene with protein product							Standard	NM_001100631		Approved	PRAMEF3L	uc009vnq.1	A3QJZ6	OTTHUMG00000074726	ENST00000376187.1:c.727G>A	1.37:g.13036655G>A	ENSP00000365358:p.Asp243Asn					PRAMEF6_ENST00000376192.5_Intron	p.D243N	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN			2	727	+			243					A6NMM3	Missense_Mutation	SNP	ENST00000376187.1	37	c.727G>A	CCDS41256.1	.	.	.	.	.	.	.	.	.	.	.	3.175	-0.169119	0.06461	.	.	ENSG00000204508	ENST00000376187	T	0.15017	2.46	0.869	-0.303	0.12792	.	1.674560	0.03090	N	0.159663	T	0.06050	0.0157	N	0.05383	-0.06	0.09310	N	1	P	0.44816	0.844	B	0.32211	0.142	T	0.17684	-1.0361	10	0.13853	T	0.58	.	3.1079	0.06348	0.3724:0.0:0.6276:0.0	.	243	A3QJZ6	PRA22_HUMAN	N	243	ENSP00000365358:D243N	ENSP00000365358:D243N	D	+	1	0	PRAMEF22	12959242	0.000000	0.05858	0.005000	0.12908	0.082000	0.17680	-1.846000	0.01676	-0.100000	0.12241	0.173000	0.16961	GAT		0.478	PRAMEF22-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158511.1	NM_001100631		5	88	0	0	0	1	0	5	88				
CD81-AS1	101927682	broad.mit.edu	37	11	2356903	2356903	+	RNA	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:2356903C>T	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							GATCTTCCTGCGCACGTGTGA	0.562																																						ENST00000413483.1																			0																				205.0	176.0	186.0					11																	2356903		2202	4299	6501			0							g.chr11:2356903C>T																													11.37:g.2356903C>T						RPL26P30_ENST00000602923.1_RNA								0	407	-									RNA	SNP	ENST00000413483.1	37																																																																																						0.562	AC129929.5-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000143277.1			28	98	0	0	0	1	0	28	98				
SEMA4B	10509	broad.mit.edu	37	15	90763060	90763060	+	Silent	SNP	G	G	A	rs562838911	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:90763060G>A	ENST00000411539.2	+	4	680	c.420G>A	c.(418-420)ccG>ccA	p.P140P	SEMA4B_ENST00000379122.3_Silent_p.P135P|SEMA4B_ENST00000332496.6_Silent_p.P140P	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	135	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCCTCCTGCCGCTCAGCGGCA	0.622											OREG0023468	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	7	0.00139776	0.0	0.0	5008	,	,		15614	0.0		0.0	False		,,,				2504	0.0072					ENST00000411539.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12						c.(418-420)ccG>ccA		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B							56.0	57.0	57.0					15																	90763060		1949	4140	6089	SO:0001819	synonymous_variant	10509							g.chr15:90763060G>A	AB051532	CCDS45347.1	15q25	2008-07-18						"""Semaphorins"""	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.420G>A	15.37:g.90763060G>A			OREG0023468	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1277	SEMA4B_ENST00000379122.3_Silent_p.P135P|SEMA4B_ENST00000332496.6_Silent_p.P140P	p.P140P	NM_198925.2	NP_945119.1			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		4	680	+	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)							Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Silent	SNP	ENST00000411539.2	37	c.420G>A	CCDS45347.1																																																																																				0.622	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416810.1	NM_198925		17	17	0	0	0	1	0	17	17				
TET1	80312	broad.mit.edu	37	10	70451231	70451231	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:70451231G>A	ENST00000373644.4	+	12	6280	c.6071G>A	c.(6070-6072)cGg>cAg	p.R2024Q		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2024					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.R2024Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAGTGTGCCCGGCGAGAGCTG	0.522																																						ENST00000373644.4																			1	Substitution - Missense(1)	p.R2024Q(1)	large_intestine(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(6070-6072)cGg>cAg		tet methylcytosine dioxygenase 1							96.0	90.0	92.0					10																	70451231		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70451231G>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.6071G>A	10.37:g.70451231G>A	ENSP00000362748:p.Arg2024Gln						p.R2024Q	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			12	6280	+			2024					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.6071G>A	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053723	0.75960	.	.	ENSG00000138336	ENST00000373644	T	0.12465	2.68	5.6	5.6	0.85130	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.296167	0.30781	N	0.008893	T	0.35828	0.0945	M	0.72894	2.215	0.32793	N	0.500866	D	0.76494	0.999	D	0.79108	0.992	T	0.45702	-0.9243	10	0.72032	D	0.01	.	13.2315	0.59947	0.0729:0.0:0.9271:0.0	.	2024	Q8NFU7	TET1_HUMAN	Q	2024	ENSP00000362748:R2024Q	ENSP00000362748:R2024Q	R	+	2	0	TET1	70121237	1.000000	0.71417	0.950000	0.38849	0.329000	0.28539	7.596000	0.82721	2.806000	0.96561	0.655000	0.94253	CGG		0.522	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		32	56	0	0	0	1	0	32	56				
PIK3CA	5290	broad.mit.edu	37	3	178952026	178952026	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:178952026C>A	ENST00000263967.3	+	21	3238	c.3081C>A	c.(3079-3081)gcC>gcA	p.A1027A	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1027	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.A1027V(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGACCCTAGCCTTAGATAAAA	0.388		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		2	Substitution - Missense(2)	p.A1027V(2)	skin(2)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3079-3081)gcC>gcA		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							94.0	84.0	87.0					3																	178952026		1876	4114	5990	SO:0001819	synonymous_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952026C>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3081C>A	3.37:g.178952026C>A		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.A1027A	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3238	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1027			PI3K/PI4K.		Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	c.3081C>A	CCDS43171.1																																																																																				0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			14	75	1	0	0.000151284	1	0.000154908	14	75				
GAL3ST1	9514	broad.mit.edu	37	22	30951602	30951602	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30951602A>G	ENST00000402321.1	-	3	927	c.610T>C	c.(610-612)Tac>Cac	p.Y204H	GAL3ST1_ENST00000406955.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.Y204H			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	204					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TTGGGGTCGTAGTAGCGATCC	0.627																																						ENST00000402321.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(610-612)Tac>Cac		galactose-3-O-sulfotransferase 1							80.0	69.0	73.0					22																	30951602		2203	4297	6500	SO:0001583	missense	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951602A>G	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.610T>C	22.37:g.30951602A>G	ENSP00000385735:p.Tyr204His					GAL3ST1_ENST00000443111.2_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.Y204H	p.Y204H			Q99999	G3ST1_HUMAN			3	927	-			204					Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	c.610T>C	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.257977	0.59321	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827	T;T;T;T;T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72	5.25	5.25	0.73442	.	0.054893	0.85682	D	0.000000	T	0.35393	0.0930	M	0.72894	2.215	0.80722	D	1	P	0.35033	0.481	B	0.40038	0.317	T	0.17018	-1.0383	10	0.48119	T	0.1	-10.3438	14.7721	0.69688	1.0:0.0:0.0:0.0	.	204	Q99999	G3ST1_HUMAN	H	204;204;204;204;204;204;204;204;205;204	ENSP00000385825:Y204H;ENSP00000385735:Y204H;ENSP00000384122:Y204H;ENSP00000384388:Y204H;ENSP00000343234:Y204H;ENSP00000385207:Y204H;ENSP00000402587:Y204H;ENSP00000390545:Y204H;ENSP00000395080:Y205H;ENSP00000405017:Y204H	ENSP00000343234:Y204H	Y	-	1	0	GAL3ST1	29281602	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.232000	0.95325	1.987000	0.57996	0.397000	0.26171	TAC		0.627	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		6	67	0	0	0	1	0	6	67				
CCT3	7203	broad.mit.edu	37	1	156288708	156288708	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:156288708C>T	ENST00000295688.3	-	8	990	c.710G>A	c.(709-711)cGc>cAc	p.R237H	CCT3_ENST00000368261.3_Missense_Mutation_p.R192H|CCT3_ENST00000368259.2_Missense_Mutation_p.R199H|CCT3_ENST00000472765.2_Missense_Mutation_p.R192H	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	237					'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)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CAGCACAATGCGAGGGTTCTT	0.463																																						ENST00000295688.3																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(709-711)cGc>cAc		chaperonin containing TCP1, subunit 3 (gamma)							90.0	84.0	86.0					1																	156288708		2203	4300	6503	SO:0001583	missense	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156288708C>T	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.710G>A	1.37:g.156288708C>T	ENSP00000295688:p.Arg237His					CCT3_ENST00000368259.2_Missense_Mutation_p.R199H|CCT3_ENST00000472765.2_Missense_Mutation_p.R192H|CCT3_ENST00000368261.3_Missense_Mutation_p.R192H	p.R237H	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN			8	990	-	Hepatocellular(266;0.158)		237					A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	ENST00000295688.3	37	c.710G>A	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057569	0.76074	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765;ENST00000413555	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	5.94	5.04	0.67666	.	0.059794	0.64402	D	0.000010	D	0.82967	0.5152	H	0.95982	3.75	0.51482	D	0.999924	D;D;P	0.89917	1.0;1.0;0.927	D;D;P	0.70487	0.961;0.969;0.59	D	0.87752	0.2592	10	0.87932	D	0	-4.9147	11.0891	0.48104	0.0:0.9156:0.0:0.0844	.	199;236;237	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	H	237;199;192;192;261	ENSP00000295688:R237H;ENSP00000357242:R199H;ENSP00000357244:R192H;ENSP00000431543:R192H;ENSP00000413308:R261H	ENSP00000295688:R237H	R	-	2	0	CCT3	154555332	1.000000	0.71417	0.935000	0.37517	0.284000	0.27059	7.458000	0.80787	1.532000	0.49169	0.643000	0.83706	CGC		0.463	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		16	34	0	0	0	1	0	16	34				
NAT6	24142	broad.mit.edu	37	3	50334626	50334626	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:50334626C>T	ENST00000443842.1	-	2	1076	c.269G>A	c.(268-270)cGc>cAc	p.R90H	HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000443094.2_Missense_Mutation_p.R90H|HYAL3_ENST00000415204.1_Intron|NAT6_ENST00000417393.1_Missense_Mutation_p.R90H|NAT6_ENST00000354862.4_Missense_Mutation_p.R112H			Q93015	NAT6_HUMAN	N-acetyltransferase 6 (GCN5-related)	90	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)	N-acetyltransferase activity (GO:0008080)			endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGAGTGCAGGCGGGAGGTGCG	0.647																																						ENST00000443842.1																			0				endometrium(3)|lung(1)|skin(1)	5						c.(268-270)cGc>cAc		N-acetyltransferase 6 (GCN5-related)							31.0	41.0	38.0					3																	50334626		2117	4215	6332	SO:0001583	missense	24142							g.chr3:50334626C>T	AF040705	CCDS43095.1, CCDS56258.1	3p21.3	2011-11-16	2008-09-24		ENSG00000243477	ENSG00000243477	2.3.1.-		30252	protein-coding gene	gene with protein product		607073	"""N-acetyltransferase 6"""			11929860, 11085536	Standard	NM_012191		Approved	FUS2		Q93015	OTTHUMG00000156939	ENST00000443842.1:c.269G>A	3.37:g.50334626C>T	ENSP00000400559:p.Arg90His					NAT6_ENST00000443094.2_Missense_Mutation_p.R90H|NAT6_ENST00000354862.4_Missense_Mutation_p.R112H|HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000417393.1_Missense_Mutation_p.R90H|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000450982.1_Intron	p.R90H						BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	2	1076	-								Q93014	Missense_Mutation	SNP	ENST00000443842.1	37	c.269G>A	CCDS56258.1	.	.	.	.	.	.	.	.	.	.	C	33	5.260556	0.95368	.	.	ENSG00000243477	ENST00000354862;ENST00000417393;ENST00000443094;ENST00000443842	.	.	.	5.48	5.48	0.80851	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.56097	U	0.000039	T	0.79423	0.4443	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.81529	-0.0891	9	0.87932	D	0	-15.7482	16.8484	0.85987	0.0:1.0:0.0:0.0	.	112;90	Q93015-2;Q93015	.;NAT6_HUMAN	H	112;90;90;90	.	ENSP00000346927:R112H	R	-	2	0	NAT6	50309630	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	7.396000	0.79891	2.581000	0.87130	0.655000	0.94253	CGC		0.647	NAT6-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346681.1	NM_012191		4	44	0	0	0	1	0	4	44				
CDC42BPG	55561	broad.mit.edu	37	11	64606680	64606680	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:64606680G>A	ENST00000342711.5	-	7	700	c.701C>T	c.(700-702)aCg>aTg	p.T234M		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						ATAGTCCGGCGTCCCTACTGC	0.617																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(700-702)aCg>aTg		CDC42 binding protein kinase gamma (DMPK-like)							87.0	83.0	85.0					11																	64606680		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64606680G>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.701C>T	11.37:g.64606680G>A	ENSP00000345133:p.Thr234Met						p.T234M	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			7	700	-			234			Protein kinase.			Missense_Mutation	SNP	ENST00000342711.5	37	c.701C>T	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433779	0.83776	.	.	ENSG00000171219	ENST00000342711	T	0.49139	0.79	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.234103	0.29587	N	0.011735	T	0.81346	0.4803	H	0.98388	4.22	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88486	0.3072	10	0.87932	D	0	.	16.7333	0.85440	0.0:0.0:1.0:0.0	.	234	Q6DT37	MRCKG_HUMAN	M	234	ENSP00000345133:T234M	ENSP00000345133:T234M	T	-	2	0	CDC42BPG	64363256	1.000000	0.71417	0.934000	0.37439	0.829000	0.46940	9.758000	0.98927	2.623000	0.88846	0.655000	0.94253	ACG		0.617	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		6	41	0	0	0	1	0	6	41				
KLHL30	377007	broad.mit.edu	37	2	239049574	239049574	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:239049574C>T	ENST00000409223.1	+	2	286	c.179C>T	c.(178-180)gCc>gTc	p.A60V	KLHL30_ENST00000305959.4_Missense_Mutation_p.A42V			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	60	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TACTTCCATGCCATGTTTGCG	0.677																																						ENST00000409223.1																			0				lung(4)	4						c.(178-180)gCc>gTc		kelch-like family member 30							75.0	86.0	82.0					2																	239049574		2127	4226	6353	SO:0001583	missense	377007							g.chr2:239049574C>T		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.179C>T	2.37:g.239049574C>T	ENSP00000386389:p.Ala60Val					KLHL30_ENST00000305959.4_Missense_Mutation_p.A42V	p.A60V			Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	2	286	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	60			BTB.		Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	c.179C>T	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476218	0.84640	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.69306	-0.39;-0.39	5.75	5.75	0.90469	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.328254	0.32640	N	0.005826	D	0.83362	0.5238	M	0.83384	2.64	0.42989	D	0.994487	D	0.71674	0.998	D	0.69142	0.962	D	0.85470	0.1172	10	0.87932	D	0	.	18.7132	0.91666	0.0:1.0:0.0:0.0	.	60	Q0D2K2	KLH30_HUMAN	V	60;42	ENSP00000386389:A60V;ENSP00000302386:A42V	ENSP00000302386:A42V	A	+	2	0	KLHL30	238714313	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	3.918000	0.56432	2.720000	0.93068	0.655000	0.94253	GCC		0.677	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		22	47	0	0	0	1	0	22	47				
GIMAP8	155038	broad.mit.edu	37	7	150174667	150174667	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:150174667T>G	ENST00000307271.3	+	5	2371	c.1797T>G	c.(1795-1797)tgT>tgG	p.C599W		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	599	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GGCGAGTTTGTGCTTTTAACA	0.473																																						ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(1795-1797)tgT>tgG		GTPase, IMAP family member 8							76.0	89.0	84.0					7																	150174667		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150174667T>G	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1797T>G	7.37:g.150174667T>G	ENSP00000305107:p.Cys599Trp						p.C599W	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	5	2371	+			599						Missense_Mutation	SNP	ENST00000307271.3	37	c.1797T>G	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.513692	0.27123	.	.	ENSG00000171115	ENST00000307271	T	0.06687	3.27	4.44	1.99	0.26369	AIG1 (1);	0.139018	0.33650	N	0.004694	T	0.13884	0.0336	M	0.89095	3.005	0.46609	D	0.999123	B	0.34399	0.452	B	0.36766	0.232	T	0.01363	-1.1374	10	0.72032	D	0.01	.	4.0846	0.09942	0.0:0.1102:0.2124:0.6775	.	599	Q8ND71	GIMA8_HUMAN	W	599	ENSP00000305107:C599W	ENSP00000305107:C599W	C	+	3	2	GIMAP8	149805600	0.996000	0.38824	0.540000	0.28089	0.014000	0.08584	0.318000	0.19504	0.241000	0.21283	0.533000	0.62120	TGT		0.473	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		27	55	0	0	0	1	0	27	55				
OR5M11	219487	broad.mit.edu	37	11	56310191	56310191	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:56310191C>T	ENST00000528616.2	-	1	566	c.543G>A	c.(541-543)ccG>ccA	p.P181P		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TAATGAGCGGCGGGTCAGCAC	0.498																																						ENST00000528616.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(541-543)ccG>ccA		olfactory receptor, family 5, subfamily M, member 11							46.0	48.0	47.0					11																	56310191		2066	4218	6284	SO:0001819	synonymous_variant	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310191C>T	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.543G>A	11.37:g.56310191C>T							p.P181P	NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN			1	566	-			181					B2RNL5|B2RNL7	Silent	SNP	ENST00000528616.2	37	c.543G>A	CCDS53629.1																																																																																				0.498	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		6	32	0	0	0	1	0	6	32				
CNKSR3	154043	broad.mit.edu	37	6	154727613	154727613	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:154727613C>T	ENST00000607772.1	-	13	2087	c.1543G>A	c.(1543-1545)Gcc>Acc	p.A515T	CNKSR3_ENST00000433165.2_Missense_Mutation_p.A340T|CNKSR3_ENST00000479339.1_Missense_Mutation_p.A435T	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	515	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GGAATCGTGGCGCTGCTGTGG	0.572																																						ENST00000607772.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(1543-1545)Gcc>Acc		CNKSR family member 3							150.0	126.0	134.0					6																	154727613		2203	4300	6503	SO:0001583	missense	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154727613C>T	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1543G>A	6.37:g.154727613C>T	ENSP00000475915:p.Ala515Thr					CNKSR3_ENST00000433165.2_Missense_Mutation_p.A340T|CNKSR3_ENST00000479339.1_Missense_Mutation_p.A435T	p.A515T	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	13	2087	-		Ovarian(120;0.196)	515			DUF1170.		Q5SGD5|Q96N65	Missense_Mutation	SNP	ENST00000607772.1	37	c.1543G>A	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937372	0.92458	.	.	ENSG00000153721	ENST00000367213;ENST00000433165;ENST00000479339	T;T;T	0.57436	1.06;0.4;0.43	4.93	4.93	0.64822	Connector enhancer of kinase suppressor of ras 2 (1);	0.057446	0.64402	D	0.000002	T	0.51669	0.1688	L	0.56769	1.78	0.32146	N	0.5849	D	0.63046	0.992	P	0.55345	0.774	T	0.57602	-0.7783	10	0.72032	D	0.01	.	13.4752	0.61303	0.1567:0.8433:0.0:0.0	.	515	Q6P9H4	CNKR3_HUMAN	T	515;340;435	ENSP00000356182:A515T;ENSP00000414185:A340T;ENSP00000418975:A435T	ENSP00000356182:A515T	A	-	1	0	CNKSR3	154769305	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.393000	0.59665	2.444000	0.82710	0.655000	0.94253	GCC		0.572	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		4	60	0	0	0	1	0	4	60				
MDGA2	161357	broad.mit.edu	37	14	47504410	47504410	+	Silent	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:47504410T>C	ENST00000399232.2	-	8	1780	c.1416A>G	c.(1414-1416)aaA>aaG	p.K472K	MDGA2_ENST00000439988.3_Silent_p.K541K|MDGA2_ENST00000357362.3_Silent_p.K243K|MDGA2_ENST00000426342.1_Silent_p.K243K	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	472	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGATGATTGGTTTAGGTTTGC	0.418																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(727-729)aaA>aaG		MAM domain containing glycosylphosphatidylinositol anchor 2							240.0	212.0	221.0					14																	47504410		1940	4156	6096	SO:0001819	synonymous_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47504410T>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1416A>G	14.37:g.47504410T>C						MDGA2_ENST00000357362.3_Silent_p.K243K|MDGA2_ENST00000399232.2_Silent_p.K541K|MDGA2_ENST00000439988.2_Silent_p.K472K	p.K243K	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			8	1475	-			472			Ig-like 3.		F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37	c.729A>G		.	.	.	.	.	.	.	.	.	.	T	6.835	0.523181	0.13066	.	.	ENSG00000139915	ENST00000554762	.	.	.	5.52	1.88	0.25563	.	.	.	.	.	T	0.57125	0.2032	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47824	-0.9087	4	.	.	.	.	8.4139	0.32659	0.0:0.4046:0.0:0.5954	.	.	.	.	A	247	.	.	T	-	1	0	MDGA2	46574160	0.946000	0.32159	0.999000	0.59377	0.988000	0.76386	0.082000	0.14847	0.083000	0.17047	0.402000	0.26972	ACC		0.418	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		6	121	0	0	0	1	0	6	121				
CLSTN1	22883	broad.mit.edu	37	1	9811693	9811693	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:9811693C>T	ENST00000377298.4	-	5	1279	c.487G>A	c.(487-489)Gtg>Atg	p.V163M	CLSTN1_ENST00000361311.4_Missense_Mutation_p.V153M|CLSTN1_ENST00000377288.3_Missense_Mutation_p.V163M	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	163	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTTGAACACGGGCGCGTAC	0.507																																						ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(487-489)Gtg>Atg		calsyntenin 1							97.0	86.0	90.0					1																	9811693		2203	4300	6503	SO:0001583	missense	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9811693C>T	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.487G>A	1.37:g.9811693C>T	ENSP00000366513:p.Val163Met					CLSTN1_ENST00000361311.4_Missense_Mutation_p.V153M|CLSTN1_ENST00000377288.3_Missense_Mutation_p.V163M	p.V163M	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	5	1279	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	163			Cadherin 1.		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	c.487G>A	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746320	0.69418	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000377288;ENST00000539822	T;T;T	0.47177	0.85;0.85;0.85	5.91	2.57	0.30868	Cadherin (3);Cadherin-like (1);	0.295967	0.36778	N	0.002420	T	0.54224	0.1845	M	0.85859	2.78	0.52099	D	0.999941	D;D;D	0.58268	0.969;0.982;0.969	B;P;B	0.46299	0.313;0.511;0.313	T	0.61969	-0.6953	10	0.62326	D	0.03	-26.1551	10.1466	0.42767	0.0:0.7413:0.1173:0.1413	.	163;153;163	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	M	163;153;163;163	ENSP00000366513:V163M;ENSP00000354997:V153M;ENSP00000366502:V163M	ENSP00000354997:V153M	V	-	1	0	CLSTN1	9734280	0.995000	0.38212	0.698000	0.30274	0.922000	0.55478	3.293000	0.51779	0.820000	0.34516	0.655000	0.94253	GTG		0.507	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			10	40	0	0	0	1	0	10	40				
HCFC2	29915	broad.mit.edu	37	12	104474531	104474531	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:104474531G>C	ENST00000229330.4	+	5	794	c.690G>C	c.(688-690)atG>atC	p.M230I		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	230					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TAGAAACTATGTCATGGTCAA	0.323																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(688-690)atG>atC		host cell factor C2							80.0	80.0	80.0					12																	104474531		2202	4300	6502	SO:0001583	missense	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104474531G>C	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.690G>C	12.37:g.104474531G>C	ENSP00000229330:p.Met230Ile						p.M230I	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN			5	794	+			230					B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	c.690G>C	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434936	0.83885	.	.	ENSG00000111727	ENST00000229330	T	0.42513	0.97	5.75	4.85	0.62838	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	M	0.91972	3.26	0.52099	D	0.999947	B	0.29232	0.238	B	0.29267	0.1	T	0.54344	-0.8308	10	0.22706	T	0.39	-19.2496	15.175	0.72903	0.0685:0.0:0.9315:0.0	.	230	Q9Y5Z7	HCFC2_HUMAN	I	230	ENSP00000229330:M230I	ENSP00000229330:M230I	M	+	3	0	HCFC2	102998661	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.348000	0.79366	2.725000	0.93324	0.655000	0.94253	ATG		0.323	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		15	17	0	0	0	1	0	15	17				
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1				BMS1 pseudogene 20																		ATAAAGTATATGATTTTGTGT	0.348													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		19780	0.0		0.0	False		,,,				2504	0.0					ENST00000426066.1																			0																																																			0							g.chr22:22664056T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664056T>C								NR_027293.1						0	623	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.348	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	40	0	0	0	1	0	4	40				
LMTK3	114783	broad.mit.edu	37	19	49012151	49012151	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:49012151G>T	ENST00000600059.1	-	5	741	c.514C>A	c.(514-516)Ccc>Acc	p.P172T	LMTK3_ENST00000270238.3_Missense_Mutation_p.P201T			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TGCTCCAGGGGCCCCGCGCTG	0.597																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(514-516)Ccc>Acc		lemur tyrosine kinase 3							70.0	81.0	77.0					19																	49012151		2141	4262	6403	SO:0001583	missense	114783							g.chr19:49012151G>T	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.514C>A	19.37:g.49012151G>T	ENSP00000472020:p.Pro172Thr					LMTK3_ENST00000270238.3_Missense_Mutation_p.P201T	p.P172T						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	5	741	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37	c.514C>A		.	.	.	.	.	.	.	.	.	.	G	16.00	2.997372	0.54147	.	.	ENSG00000142235	ENST00000270238	D	0.82081	-1.57	4.01	2.94	0.34122	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000008	T	0.80737	0.4680	N	0.20881	0.62	0.46149	D	0.998895	D	0.64830	0.994	P	0.58266	0.836	T	0.78097	-0.2337	10	0.33141	T	0.24	.	12.0344	0.53417	0.0:0.1766:0.8234:0.0	.	172	Q96Q04	LMTK3_HUMAN	T	201	ENSP00000270238:P201T	ENSP00000270238:P201T	P	-	1	0	LMTK3	53703963	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.473000	0.53122	0.956000	0.37904	0.561000	0.74099	CCC		0.597	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		19	32	1	0	1.37522e-17	1	1.49468e-17	19	32				
C15orf56	644809	broad.mit.edu	37	15	40544701	40544701	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:40544701C>T	ENST00000319503.3	-	2	292	c.271G>A	c.(271-273)Gcg>Acg	p.A91T	PAK6_ENST00000260404.4_Intron|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000542403.2_5'Flank|PAK6_ENST00000560346.1_Intron|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000441369.1_Intron|C15orf56_ENST00000559727.1_3'UTR|PAK6_ENST00000455577.2_Intron	NM_001039905.1	NP_001034994.1	Q8N910	CO056_HUMAN	chromosome 15 open reading frame 56	91										lung(1)	1		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)		ACTTCTCCCGCGCTCTGGGTT	0.662																																						ENST00000319503.3																			0				lung(1)	1						c.(271-273)Gcg>Acg		chromosome 15 open reading frame 56							23.0	27.0	26.0					15																	40544701		2203	4300	6503	SO:0001583	missense	644809							g.chr15:40544701C>T		CCDS32197.1	15q15.1	2012-05-30			ENSG00000176753	ENSG00000176753			33868	protein-coding gene	gene with protein product							Standard	NM_001039905		Approved	FLJ38596	uc001zla.2	Q8N910	OTTHUMG00000172399	ENST00000319503.3:c.271G>A	15.37:g.40544701C>T	ENSP00000315794:p.Ala91Thr					PAK6_ENST00000455577.2_Intron|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000560346.1_Intron|PAK6_ENST00000260404.4_Intron|PAK6_ENST00000441369.1_Intron|C15orf56_ENST00000559727.1_3'UTR	p.A91T	NM_001039905.1	NP_001034994.1	Q8N910	CO056_HUMAN		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)	2	292	-		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	91						Missense_Mutation	SNP	ENST00000319503.3	37	c.271G>A	CCDS32197.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861720	0.51482	.	.	ENSG00000176753	ENST00000319503	T	0.29655	1.56	4.25	3.32	0.38043	.	.	.	.	.	T	0.14917	0.0360	N	0.08118	0	0.20563	N	0.999884	B	0.33904	0.431	B	0.23852	0.049	T	0.12142	-1.0559	9	0.87932	D	0	.	10.2241	0.43214	0.0:0.207:0.793:0.0	.	91	Q8N910	CO056_HUMAN	T	91	ENSP00000315794:A91T	ENSP00000315794:A91T	A	-	1	0	C15orf56	38331993	0.223000	0.23663	0.001000	0.08648	0.178000	0.23041	1.053000	0.30442	1.136000	0.42199	-0.256000	0.11100	GCG		0.662	C15orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418370.2	NM_001039905		5	14	0	0	0	1	0	5	14				
GAREM	64762	broad.mit.edu	37	18	29848728	29848728	+	Silent	SNP	G	G	A	rs373713186		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:29848728G>A	ENST00000269209.6	-	6	1740	c.1737C>T	c.(1735-1737)agC>agT	p.S579S	GAREM_ENST00000399218.4_Splice_Site_p.I578I			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	579					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										TTTTAGTGACGCTGCTTAAAA	0.403																																						ENST00000399218.4																			0											c.e6-1		GRB2 associated, regulator of MAPK1		G	,	1,4405	2.1+/-5.4	0,1,2202	60.0	60.0	60.0		1737,1734	3.7	0.9	18		60	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous-near-splice	FAM59A	NM_001242409.1,NM_022751.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	579/877,578/876	29848728	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64762							g.chr18:29848728G>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1737C>T	18.37:g.29848728G>A						GAREM_ENST00000269209.6_Silent_p.S579S	p.I578_splice	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					6	1789	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Splice_Site	SNP	ENST00000269209.6	37	c.1733_splice	CCDS56057.1																																																																																				0.403	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		13	53	0	0	0	1	0	13	53				
CCDC178	374864	broad.mit.edu	37	18	30950099	30950099	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:30950099A>G	ENST00000383096.3	-	6	445	c.263T>C	c.(262-264)gTa>gCa	p.V88A	CCDC178_ENST00000579916.1_Missense_Mutation_p.V88A|CCDC178_ENST00000402325.1_Missense_Mutation_p.V88A|CCDC178_ENST00000583930.1_Missense_Mutation_p.V88A|CCDC178_ENST00000579947.1_Missense_Mutation_p.V88A|CCDC178_ENST00000406524.2_Missense_Mutation_p.V88A|CCDC178_ENST00000403303.1_Missense_Mutation_p.V88A|CCDC178_ENST00000300227.8_Missense_Mutation_p.V88A			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	88																	AATATTTACTACGGCACAGCT	0.378																																						ENST00000383096.3																			0											c.(262-264)gTa>gCa		coiled-coil domain containing 178							86.0	78.0	81.0					18																	30950099		2203	4300	6503	SO:0001583	missense	374864							g.chr18:30950099A>G	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.263T>C	18.37:g.30950099A>G	ENSP00000372576:p.Val88Ala					CCDC178_ENST00000579916.1_Missense_Mutation_p.V88A|CCDC178_ENST00000403303.1_Missense_Mutation_p.V88A|CCDC178_ENST00000406524.2_Missense_Mutation_p.V88A|CCDC178_ENST00000300227.8_Missense_Mutation_p.V88A|CCDC178_ENST00000402325.1_Missense_Mutation_p.V88A|CCDC178_ENST00000583930.1_Missense_Mutation_p.V88A|CCDC178_ENST00000579947.1_Missense_Mutation_p.V88A	p.V88A							6	445	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.263T>C	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	A	4.539	0.100114	0.08731	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.50277	2.32;2.32;2.31;2.31;2.31;0.75	5.5	1.66	0.24008	.	.	.	.	.	T	0.34745	0.0908	L	0.40543	1.245	0.09310	N	1	B;P;B;B;B	0.37500	0.341;0.597;0.206;0.341;0.341	B;B;B;B;B	0.37047	0.085;0.24;0.085;0.085;0.085	T	0.25676	-1.0125	9	0.66056	D	0.02	0.5166	3.7125	0.08425	0.6684:0.0:0.1751:0.1565	.	88;88;88;88;88	F8W7A7;A1L4G8;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	A	88	ENSP00000385591:V88A;ENSP00000372576:V88A;ENSP00000300227:V88A;ENSP00000385867:V88A;ENSP00000385234:V88A;ENSP00000382130:V88A	ENSP00000300227:V88A	V	-	2	0	C18orf34	29204097	0.005000	0.15991	0.034000	0.17996	0.177000	0.22998	0.998000	0.29744	0.036000	0.15547	0.454000	0.30748	GTA		0.378	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		14	38	0	0	0	1	0	14	38				
GPR112	139378	broad.mit.edu	37	X	135429592	135429592	+	Missense_Mutation	SNP	G	G	A	rs370044190		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:135429592G>A	ENST00000394143.1	+	6	4018	c.3727G>A	c.(3727-3729)Gtg>Atg	p.V1243M	GPR112_ENST00000412101.1_Missense_Mutation_p.V1038M|GPR112_ENST00000394141.1_Missense_Mutation_p.V1038M|GPR112_ENST00000370652.1_Missense_Mutation_p.V1243M|GPR112_ENST00000287534.4_Missense_Mutation_p.V1180M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1243					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACACACACCAGTGTCCATCCA	0.458																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(3727-3729)Gtg>Atg		G protein-coupled receptor 112							226.0	191.0	203.0					X																	135429592		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429592G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3727G>A	X.37:g.135429592G>A	ENSP00000377699:p.Val1243Met					GPR112_ENST00000287534.4_Missense_Mutation_p.V1180M|GPR112_ENST00000412101.1_Missense_Mutation_p.V1038M|GPR112_ENST00000394141.1_Missense_Mutation_p.V1038M|GPR112_ENST00000370652.1_Missense_Mutation_p.V1243M	p.V1243M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	4018	+	Acute lymphoblastic leukemia(192;0.000127)		1243					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.3727G>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	6.224	0.409426	0.11812	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.35973	1.31;1.31;1.28;1.41;1.28	3.05	-0.0882	0.13674	.	.	.	.	.	T	0.18882	0.0453	N	0.19112	0.55	0.09310	N	1	B;B;B	0.24368	0.102;0.012;0.007	B;B;B	0.18871	0.015;0.023;0.01	T	0.21793	-1.0235	9	0.26408	T	0.33	.	5.2108	0.15316	0.4987:0.0:0.5013:0.0	.	1180;1038;1243	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	M	1243;1243;1038;1180;1038	ENSP00000377699:V1243M;ENSP00000359686:V1243M;ENSP00000416526:V1038M;ENSP00000287534:V1180M;ENSP00000377697:V1038M	ENSP00000287534:V1180M	V	+	1	0	GPR112	135257258	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.179000	0.16840	-0.002000	0.14469	-0.523000	0.04350	GTG		0.458	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			7	72	0	0	0	1	0	7	72				
XYLT2	64132	broad.mit.edu	37	17	48437450	48437450	+	Missense_Mutation	SNP	G	G	A	rs150470450		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:48437450G>A	ENST00000017003.2	+	11	2445	c.2396G>A	c.(2395-2397)cGg>cAg	p.R799Q	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	799					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GCTGCCCAGCGGCACACACAG	0.652																																						ENST00000017003.2																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(2395-2397)cGg>cAg		xylosyltransferase II		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	53.0	43.0	46.0		2396	-2.2	0.0	17	dbSNP_134	46	0,8598		0,0,4299	no	missense	XYLT2	NM_022167.2	43	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	799/866	48437450	1,13003	2203	4299	6502	SO:0001583	missense	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48437450G>A	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.2396G>A	17.37:g.48437450G>A	ENSP00000017003:p.Arg799Gln					XYLT2_ENST00000507602.1_Intron	p.R799Q	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN			11	2445	+	Breast(11;7.18e-19)		799					Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	c.2396G>A	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	G	3.087	-0.187756	0.06299	2.27E-4	0.0	ENSG00000015532	ENST00000017003	T	0.04275	3.66	4.99	-2.25	0.06888	.	0.363503	0.28114	N	0.016544	T	0.03651	0.0104	L	0.46157	1.445	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.41662	-0.9496	10	0.22109	T	0.4	-6.5881	5.1842	0.15176	0.3938:0.0:0.3886:0.2176	.	799	Q9H1B5	XYLT2_HUMAN	Q	799	ENSP00000017003:R799Q	ENSP00000017003:R799Q	R	+	2	0	XYLT2	45792449	0.000000	0.05858	0.040000	0.18447	0.006000	0.05464	0.274000	0.18680	-0.558000	0.06118	-0.982000	0.02568	CGG		0.652	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		5	11	0	0	0	1	0	5	11				
DUS1L	64118	broad.mit.edu	37	17	80016030	80016030	+	Silent	SNP	T	T	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:80016030T>G	ENST00000354321.7	-	13	1868	c.1383A>C	c.(1381-1383)ccA>ccC	p.P461P	DUS1L_ENST00000306796.5_Silent_p.P461P			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	461							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AGAAGCCACCTGGTGTTCCAG	0.582																																						ENST00000354321.7																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6						c.(1381-1383)ccA>ccC		dihydrouridine synthase 1-like (S. cerevisiae)							43.0	48.0	46.0					17																	80016030		2202	4298	6500	SO:0001819	synonymous_variant	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80016030T>G		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.1383A>C	17.37:g.80016030T>G						DUS1L_ENST00000306796.5_Silent_p.P461P	p.P461P			Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		13	1868	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		461					A6NHV4|Q96AI3	Silent	SNP	ENST00000354321.7	37	c.1383A>C	CCDS32775.1																																																																																				0.582	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156		12	39	0	0	0	1	0	12	39				
TP53BP2	7159	broad.mit.edu	37	1	223971888	223971888	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:223971888C>T	ENST00000343537.7	-	17	3583	c.3292G>A	c.(3292-3294)Gaa>Aaa	p.E1098K	TP53BP2_ENST00000391879.2_Missense_Mutation_p.E331K|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.E969K	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	1092	Mediates interaction with APC2.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		ATTTCATCTTCGTCTTCCCTG	0.448																																						ENST00000391878.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(2905-2907)Gaa>Aaa		tumor protein p53 binding protein, 2							221.0	204.0	210.0					1																	223971888		2203	4300	6503	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223971888C>T	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.3292G>A	1.37:g.223971888C>T	ENSP00000341957:p.Glu1098Lys					TP53BP2_ENST00000343537.7_Missense_Mutation_p.E1098K|TP53BP2_ENST00000391879.2_Missense_Mutation_p.E331K|TP53BP2_ENST00000498843.1_5'UTR	p.E969K	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	18	3673	-			1092			Mediates interaction with APC2.		B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.2905G>A	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.306975	0.60305	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	T;T;T	0.52057	2.22;0.68;2.22	5.97	5.97	0.96955	Src homology-3 domain (4);Spectrin alpha chain, SH3 domain (1);	0.092011	0.85682	D	0.000000	T	0.46718	0.1407	L	0.52905	1.665	0.80722	D	1	P;P	0.52463	0.953;0.904	B;B	0.38327	0.271;0.15	T	0.53201	-0.8472	10	0.62326	D	0.03	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	1098;1092	B4DG66;Q13625	.;ASPP2_HUMAN	K	969;1098;331	ENSP00000375750:E969K;ENSP00000341957:E1098K;ENSP00000375751:E331K	ENSP00000341957:E1098K	E	-	1	0	TP53BP2	222038511	1.000000	0.71417	0.340000	0.25575	0.087000	0.18053	7.792000	0.85828	2.833000	0.97629	0.585000	0.79938	GAA		0.448	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		32	76	0	0	0	1	0	32	76				
CSE1L	1434	broad.mit.edu	37	20	47706243	47706243	+	Missense_Mutation	SNP	G	G	A	rs376962564		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:47706243G>A	ENST00000262982.2	+	19	2264	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	CSE1L_ENST00000396192.3_Missense_Mutation_p.R658H|CSE1L_ENST00000542325.1_Missense_Mutation_p.R497H	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	714					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TTCTTAGAACGCGGTTCAAAC	0.418																																						ENST00000262982.2																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35						c.(2140-2142)cGc>cAc		CSE1 chromosome segregation 1-like (yeast)		G	HIS/ARG	0,4406		0,0,2203	73.0	75.0	74.0		2141	4.8	0.9	20		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	CSE1L	NM_001316.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	714/972	47706243	1,13005	2203	4300	6503	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47706243G>A	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.2141G>A	20.37:g.47706243G>A	ENSP00000262982:p.Arg714His					CSE1L_ENST00000396192.3_Missense_Mutation_p.R658H|CSE1L_ENST00000542325.1_Missense_Mutation_p.R497H	p.R714H	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		19	2264	+			714					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.2141G>A	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772683	0.31411	0.0	1.16E-4	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.53640	0.61;0.61;0.61	5.72	4.76	0.60689	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.147535	0.64402	D	0.000015	T	0.34221	0.0890	L	0.27975	0.815	0.50171	D	0.999855	B;B;B;B;B	0.15141	0.012;0.004;0.003;0.006;0.004	B;B;B;B;B	0.16289	0.002;0.004;0.015;0.008;0.004	T	0.08554	-1.0716	10	0.14252	T	0.57	-9.9472	15.6479	0.77068	0.0689:0.0:0.9311:0.0	.	403;497;658;658;714	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	H	312;714;497;658	ENSP00000262982:R714H;ENSP00000446477:R497H;ENSP00000379495:R658H	ENSP00000262982:R714H	R	+	2	0	CSE1L	47139650	1.000000	0.71417	0.945000	0.38365	0.942000	0.58702	4.946000	0.63576	2.865000	0.98341	0.655000	0.94253	CGC		0.418	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		16	43	0	0	0	1	0	16	43				
DHX34	9704	broad.mit.edu	37	19	47884519	47884519	+	Missense_Mutation	SNP	C	C	T	rs538434908		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:47884519C>T	ENST00000328771.4	+	16	3585	c.3236C>T	c.(3235-3237)aCg>aTg	p.T1079M		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1079					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCGCCCCTCACGCCCCTGGAG	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		15108	0.0		0.0	False		,,,				2504	0.001					ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(3235-3237)aCg>aTg		DEAH (Asp-Glu-Ala-His) box polypeptide 34							56.0	59.0	58.0					19																	47884519		2203	4300	6503	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47884519C>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.3236C>T	19.37:g.47884519C>T	ENSP00000331907:p.Thr1079Met						p.T1079M	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	16	3585	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	1079					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.3236C>T	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432007	0.62844	.	.	ENSG00000134815	ENST00000328771	T	0.03413	3.94	5.25	5.25	0.73442	.	0.000000	0.56097	D	0.000032	T	0.14830	0.0358	L	0.54323	1.7	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.00120	-1.2030	10	0.72032	D	0.01	-17.372	15.7441	0.77926	0.0:1.0:0.0:0.0	.	1079	Q14147	DHX34_HUMAN	M	1079	ENSP00000331907:T1079M	ENSP00000331907:T1079M	T	+	2	0	DHX34	52576350	1.000000	0.71417	0.594000	0.28785	0.145000	0.21501	6.775000	0.75018	2.446000	0.82766	0.561000	0.74099	ACG		0.672	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		7	42	0	0	0	1	0	7	42				
ZNF777	27153	broad.mit.edu	37	7	149133690	149133690	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:149133690G>A	ENST00000247930.4	-	5	1638	c.1315C>T	c.(1315-1317)Ctg>Ttg	p.L439L		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	439	Glu-rich.				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(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCTGCACCAGCATCTGCTTC	0.657																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(1315-1317)Ctg>Ttg		zinc finger protein 777							51.0	55.0	54.0					7																	149133690		2040	4177	6217	SO:0001819	synonymous_variant	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149133690G>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1315C>T	7.37:g.149133690G>A							p.L439L	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		5	1638	-	Melanoma(164;0.165)		439			Glu-rich.		Q8N2R2|Q8N659	Silent	SNP	ENST00000247930.4	37	c.1315C>T	CCDS43675.1																																																																																				0.657	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		24	51	0	0	0	1	0	24	51				
SLC7A2	6542	broad.mit.edu	37	8	17400870	17400870	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:17400870C>T	ENST00000494857.1	+	3	240	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	SLC7A2_ENST00000470360.1_Silent_p.L48L|SLC7A2_ENST00000398090.3_Silent_p.L48L|SLC7A2_ENST00000522656.1_Silent_p.L8L|SLC7A2_ENST00000004531.10_Silent_p.L48L	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	8					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGAGCCGCGCTGACCTTTGC	0.522																																						ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(142-144)Ctg>Ttg		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						85.0	81.0	82.0					8																	17400870		2203	4300	6503	SO:0001819	synonymous_variant	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17400870C>T	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.22C>T	8.37:g.17400870C>T						SLC7A2_ENST00000004531.10_Silent_p.L48L|SLC7A2_ENST00000494857.1_Silent_p.L8L|SLC7A2_ENST00000522656.1_Silent_p.L8L|SLC7A2_ENST00000398090.3_Silent_p.L48L	p.L48L			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	4	259	+			8					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	37	c.142C>T	CCDS34852.1																																																																																				0.522	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		14	13	0	0	0	1	0	14	13				
SLC14A2	8170	broad.mit.edu	37	18	43248313	43248313	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:43248313G>A	ENST00000255226.6	+	15	2723		c.e15-1		SLC14A2_ENST00000589658.1_Splice_Site|SLC14A2_ENST00000586448.1_Splice_Site|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2						transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTCCTGCCAGGTCGGCCATC	0.562																																						ENST00000255226.6																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.e15-1		solute carrier family 14 (urea transporter), member 2							90.0	87.0	88.0					18																	43248313		2203	4300	6503	SO:0001630	splice_region_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43248313G>A	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1908-1G>A	18.37:g.43248313G>A						SLC14A2_ENST00000589658.1_Splice_Site|SLC14A2_ENST00000586448.1_Splice_Site		NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			15	2723	+								A8K8Q7|Q2TBD6|Q96PH5	Splice_Site	SNP	ENST00000255226.6	37		CCDS11924.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413037	0.42817	.	.	ENSG00000132874	ENST00000255226	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1372	0.89623	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC14A2	41502311	1.000000	0.71417	0.935000	0.37517	0.129000	0.20672	8.890000	0.92477	2.503000	0.84419	0.563000	0.77884	.		0.562	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1		Intron	13	21	0	0	0	1	0	13	21				
HYDIN	54768	broad.mit.edu	37	16	70934964	70934964	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:70934964C>T	ENST00000393567.2	-	53	9141	c.8991G>A	c.(8989-8991)ctG>ctA	p.L2997L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2997					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTACAGGTGCAGGCCGTACT	0.547																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(8989-8991)ctG>ctA		HYDIN, axonemal central pair apparatus protein							122.0	120.0	121.0					16																	70934964		1988	4161	6149	SO:0001819	synonymous_variant	54768							g.chr16:70934964C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8991G>A	16.37:g.70934964C>T							p.L2997L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			53	9141	-		Ovarian(137;0.0654)	2997					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.8991G>A	CCDS59269.1																																																																																				0.547	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			18	88	0	0	0	1	0	18	88				
SMPDL3B	27293	broad.mit.edu	37	1	28285052	28285052	+	Silent	SNP	C	C	T	rs373190969		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:28285052C>T	ENST00000373894.3	+	8	1262	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	SMPDL3B_ENST00000549094.1_Silent_p.L309L|RP11-460I13.2_ENST00000448015.1_RNA|XKR8_ENST00000373884.5_5'Flank	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	357					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GCTGGGAGCTCGAGTACCAGC	0.637																																						ENST00000373894.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16						c.(1069-1071)ctC>ctT		sphingomyelin phosphodiesterase, acid-like 3B		C		0,4406		0,0,2203	49.0	53.0	52.0		1071	-5.9	0.9	1		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SMPDL3B	NM_014474.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		357/456	28285052	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27293				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr1:28285052C>T	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.1071C>T	1.37:g.28285052C>T						RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Silent_p.L309L	p.L357L	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)	8	1262	+		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	357					B7ZB35|Q5T0Z0|Q96CB7	Silent	SNP	ENST00000373894.3	37	c.1071C>T	CCDS30655.1																																																																																				0.637	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		9	34	0	0	0	1	0	9	34				
FDXR	2232	broad.mit.edu	37	17	72860461	72860461	+	Missense_Mutation	SNP	G	G	A	rs571003894		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:72860461G>A	ENST00000293195.5	-	9	889	c.811C>T	c.(811-813)Cgc>Tgc	p.R271C	FDXR_ENST00000420580.2_Missense_Mutation_p.R231C|FDXR_ENST00000442102.2_Missense_Mutation_p.R314C|FDXR_ENST00000455107.2_Missense_Mutation_p.R227C|FDXR_ENST00000544854.1_Missense_Mutation_p.R219C|FDXR_ENST00000413947.2_Missense_Mutation_p.R302C|FDXR_ENST00000581530.1_Missense_Mutation_p.R277C|FDXR_ENST00000582944.1_Missense_Mutation_p.R263C|GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000581969.1_5'Flank|FDXR_ENST00000583917.1_Missense_Mutation_p.R243C	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	271					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	TTCCTCGGGCGGGGGACCTCT	0.687											OREG0024720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		14160	0.0		0.0	False		,,,				2504	0.001					ENST00000455107.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(679-681)Cgc>Tgc		ferredoxin reductase							17.0	20.0	19.0					17																	72860461		2173	4245	6418	SO:0001583	missense	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72860461G>A	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.811C>T	17.37:g.72860461G>A	ENSP00000293195:p.Arg271Cys		OREG0024720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1140	FDXR_ENST00000293195.5_Missense_Mutation_p.R271C|FDXR_ENST00000581530.1_Missense_Mutation_p.R277C|FDXR_ENST00000583917.1_Missense_Mutation_p.R243C|FDXR_ENST00000413947.2_Missense_Mutation_p.R302C|FDXR_ENST00000582944.1_Missense_Mutation_p.R263C|FDXR_ENST00000420580.2_Missense_Mutation_p.R231C|FDXR_ENST00000544854.1_Missense_Mutation_p.R219C|FDXR_ENST00000442102.2_Missense_Mutation_p.R314C	p.R227C			P22570	ADRO_HUMAN			10	1095	-	all_lung(278;0.172)|Lung NSC(278;0.207)		271					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	c.679C>T	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022999	0.35701	.	.	ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000455107;ENST00000442102;ENST00000413947	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.57562	0.2062	H	0.96269	3.795	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.995;0.999;0.971;0.998;0.998;0.999;0.998;0.998	T	0.70479	-0.4860	10	0.87932	D	0	-5.0617	11.6176	0.51098	0.0:0.0:0.7707:0.2293	.	231;314;302;269;219;302;271;263;271;277	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;.;ADRO_HUMAN;.	C	231;219;277;227;314;302	ENSP00000414172:R231C;ENSP00000445432:R219C;ENSP00000390875:R227C;ENSP00000416515:R314C;ENSP00000408595:R302C	ENSP00000293195:R277C	R	-	1	0	FDXR	70372056	1.000000	0.71417	0.716000	0.30569	0.028000	0.11728	2.686000	0.46968	1.924000	0.55735	0.462000	0.41574	CGC		0.687	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		5	22	0	0	0	1	0	5	22				
OSBPL10	114884	broad.mit.edu	37	3	31705656	31705656	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:31705656C>T	ENST00000396556.2	-	11	2287	c.2165G>A	c.(2164-2166)cGg>cAg	p.R722Q	OSBPL10_ENST00000438237.2_Missense_Mutation_p.R658Q	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	722					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CTCCAGGTGCCGCTTCTGCTC	0.602																																						ENST00000396556.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(2164-2166)cGg>cAg		oxysterol binding protein-like 10							112.0	102.0	106.0					3																	31705656		2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31705656C>T	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.2165G>A	3.37:g.31705656C>T	ENSP00000379804:p.Arg722Gln					OSBPL10_ENST00000438237.2_Missense_Mutation_p.R658Q	p.R722Q	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	11	2287	-			722					B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.2165G>A	CCDS2651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.00|19.00	3.741318|3.741318	0.69304|0.69304	.|.	.|.	ENSG00000144645|ENSG00000144645	ENST00000429492|ENST00000396556;ENST00000438237	.|T;T	.|0.27557	.|1.66;1.66	5.25|5.25	4.36|4.36	0.52297|0.52297	.|.	.|0.051590	.|0.85682	.|D	.|0.000000	T|T	0.21631|0.21631	0.0521|0.0521	N|N	0.17901|0.17901	0.54|0.54	0.37026|0.37026	D|D	0.89644|0.89644	.|D;B;P	.|0.58970	.|0.984;0.209;0.882	.|P;B;P	.|0.49597	.|0.616;0.049;0.523	T|T	0.03750|0.03750	-1.1007|-1.1007	5|10	.|0.10902	.|T	.|0.67	-24.6464|-24.6464	7.999|7.999	0.30286|0.30286	0.0:0.7756:0.0:0.2244|0.0:0.7756:0.0:0.2244	.|.	.|658;722;490	.|B4E212;Q9BXB5;Q59ED9	.|.;OSB10_HUMAN;.	S|Q	491|722;658	.|ENSP00000379804:R722Q;ENSP00000406124:R658Q	.|ENSP00000379804:R722Q	G|R	-|-	1|2	0|0	OSBPL10|OSBPL10	31680660|31680660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.824000|4.824000	0.62701|0.62701	2.635000|2.635000	0.89317|0.89317	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.602	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			6	66	0	0	0	1	0	6	66				
RHBDF2	79651	broad.mit.edu	37	17	74467835	74467835	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:74467835G>A	ENST00000313080.4	-	19	2724	c.2451C>T	c.(2449-2451)gcC>gcT	p.A817A	RHBDF2_ENST00000389760.4_Silent_p.A788A|RHBDF2_ENST00000591885.1_Silent_p.A788A	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	817					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GCACGAGGGCGGCGAAGAGGC	0.612																																						ENST00000591885.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						c.(2362-2364)gcC>gcT		rhomboid 5 homolog 2 (Drosophila)							62.0	50.0	54.0					17																	74467835		2201	4299	6500	SO:0001819	synonymous_variant	79651				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr17:74467835G>A	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.2451C>T	17.37:g.74467835G>A						RHBDF2_ENST00000313080.4_Silent_p.A817A|RHBDF2_ENST00000389760.4_Silent_p.A788A	p.A788A			Q6PJF5	RHDF2_HUMAN			19	2914	-			817					A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Silent	SNP	ENST00000313080.4	37	c.2364C>T	CCDS32743.1																																																																																				0.612	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		3	8	0	0	0	1	0	3	8				
DYRK4	8798	broad.mit.edu	37	12	4705340	4705340	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:4705340G>A	ENST00000540757.2	+	5	468	c.308G>A	c.(307-309)cGc>cAc	p.R103H	DYRK4_ENST00000010132.5_Missense_Mutation_p.R103H|DYRK4_ENST00000543431.1_Missense_Mutation_p.R103H	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	103						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ATTGCCTACCGCTATGAAGTT	0.552																																						ENST00000540757.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(307-309)cGc>cAc		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							137.0	141.0	140.0					12																	4705340		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4705340G>A	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.308G>A	12.37:g.4705340G>A	ENSP00000441755:p.Arg103His					DYRK4_ENST00000543431.1_Missense_Mutation_p.R103H|DYRK4_ENST00000010132.5_Missense_Mutation_p.R103H	p.R103H	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		5	468	+			103					A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.308G>A	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	G	35	5.490276	0.96339	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.58	5.58	0.84498	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	M	0.92880	3.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.72554	-0.4258	10	0.87932	D	0	.	19.1806	0.93622	0.0:0.0:1.0:0.0	.	218;103;103	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	H	218;103;103;103	ENSP00000437534:R218H;ENSP00000441755:R103H;ENSP00000010132:R103H;ENSP00000439697:R103H	ENSP00000010132:R103H	R	+	2	0	DYRK4	4575601	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.566000	0.98157	2.629000	0.89072	0.655000	0.94253	CGC		0.552	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			13	99	0	0	0	1	0	13	99				
STAT6	6778	broad.mit.edu	37	12	57499054	57499054	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:57499054C>T	ENST00000300134.3	-	9	1206	c.881G>A	c.(880-882)cGa>cAa	p.R294Q	STAT6_ENST00000454075.3_Missense_Mutation_p.R294Q|STAT6_ENST00000556155.1_Missense_Mutation_p.R294Q|STAT6_ENST00000537215.2_Missense_Mutation_p.R184Q|STAT6_ENST00000538913.2_Missense_Mutation_p.R184Q|STAT6_ENST00000543873.2_Missense_Mutation_p.R294Q	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	294					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CAACAGGAATCGAACTCCAGC	0.622																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(880-882)cGa>cAa		signal transducer and activator of transcription 6, interleukin-4 induced							41.0	46.0	44.0					12																	57499054		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57499054C>T	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.881G>A	12.37:g.57499054C>T	ENSP00000300134:p.Arg294Gln					STAT6_ENST00000543873.2_Missense_Mutation_p.R294Q|STAT6_ENST00000454075.3_Missense_Mutation_p.R294Q|STAT6_ENST00000556155.1_Missense_Mutation_p.R294Q|STAT6_ENST00000538913.2_Missense_Mutation_p.R184Q|STAT6_ENST00000537215.2_Missense_Mutation_p.R184Q	p.R294Q	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			9	1206	-			294					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.881G>A	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702261	0.88924	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	D;D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34;-3.34	4.37	4.37	0.52481	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.150771	0.44688	D	0.000421	D	0.96112	0.8733	M	0.85630	2.765	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.76071	0.979;0.987	D	0.95832	0.8859	10	0.87932	D	0	-8.6411	8.1027	0.30868	0.0:0.8929:0.0:0.1071	.	294;294	A8K4S9;P42226	.;STAT6_HUMAN	Q	294;184;184;294;294;184;294;184;294	ENSP00000300134:R294Q;ENSP00000445409:R184Q;ENSP00000438451:R294Q;ENSP00000451742:R294Q;ENSP00000444530:R184Q;ENSP00000401486:R294Q	ENSP00000300134:R294Q	R	-	2	0	STAT6	55785321	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.748000	0.62148	2.261000	0.74972	0.561000	0.74099	CGA		0.622	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		10	33	0	0	0	1	0	10	33				
SNX32	254122	broad.mit.edu	37	11	65620113	65620113	+	Missense_Mutation	SNP	C	C	T	rs140929894		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:65620113C>T	ENST00000308342.6	+	11	1350	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	309					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCTGCTGTACCGGCGGCTGCG	0.697																																						ENST00000308342.6																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(925-927)Cgg>Tgg		sorting nexin 32		C	TRP/ARG	2,4396		0,2,2197	17.0	19.0	19.0		925	1.1	0.2	11	dbSNP_134	19	0,8586		0,0,4293	no	missense	SNX32	NM_152760.2	101	0,2,6490	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	309/404	65620113	2,12982	2199	4293	6492	SO:0001583	missense	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65620113C>T	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.925C>T	11.37:g.65620113C>T	ENSP00000310620:p.Arg309Trp						p.R309W	NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	11	1350	+			309					Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	c.925C>T	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439478	0.43326	4.55E-4	0.0	ENSG00000172803	ENST00000308342	T	0.30714	1.52	5.21	1.08	0.20341	Vps5 C-terminal (1);	0.615165	0.14581	N	0.310876	T	0.27349	0.0671	M	0.69248	2.105	0.28168	N	0.928697	B	0.18310	0.027	B	0.12837	0.008	T	0.30822	-0.9965	10	0.87932	D	0	-10.1678	3.8469	0.08939	0.2611:0.4889:0.0:0.2499	.	309	Q86XE0	SNX32_HUMAN	W	309	ENSP00000310620:R309W	ENSP00000310620:R309W	R	+	1	2	SNX32	65376689	0.833000	0.29383	0.211000	0.23655	0.942000	0.58702	-0.135000	0.10420	0.364000	0.24374	0.561000	0.74099	CGG		0.697	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		8	16	0	0	0	1	0	8	16				
PLEKHG4	25894	broad.mit.edu	37	16	67319227	67319227	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:67319227G>A	ENST00000360461.5	+	13	4765	c.2230G>A	c.(2230-2232)Gag>Aag	p.E744K	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E663K|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E744K|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E744K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	744	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGTGGCCACGGAGCGGGAGTA	0.622																																						ENST00000360461.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2230-2232)Gag>Aag		pleckstrin homology domain containing, family G (with RhoGef domain) member 4							65.0	65.0	65.0					16																	67319227		2198	4300	6498	SO:0001583	missense	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67319227G>A	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.2230G>A	16.37:g.67319227G>A	ENSP00000353646:p.Glu744Lys					PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E744K|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E663K|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E744K	p.E744K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	13	4765	+			744			DH.		Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	c.2230G>A	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601918	0.96614	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	4.7	4.7	0.59300	Dbl homology (DH) domain (5);	0.000000	0.33772	N	0.004561	D	0.99032	0.9669	H	0.99286	4.5	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.99069	1.0833	10	0.87932	D	0	.	16.6264	0.84971	0.0:0.0:1.0:0.0	.	663;744	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	K	744;744;744;663	ENSP00000353646:E744K;ENSP00000401118:E744K;ENSP00000368649:E744K;ENSP00000398030:E663K	ENSP00000353646:E744K	E	+	1	0	PLEKHG4	65876728	1.000000	0.71417	0.931000	0.37212	0.766000	0.43426	9.809000	0.99208	2.178000	0.69098	0.561000	0.74099	GAG		0.622	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		22	28	0	0	0	1	0	22	28				
AKNA	80709	broad.mit.edu	37	9	117129977	117129977	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:117129977C>A	ENST00000307564.4	-	6	1735	c.1574G>T	c.(1573-1575)gGg>gTg	p.G525V	AKNA_ENST00000312033.3_Splice_Site_p.G525V|AKNA_ENST00000374075.5_Splice_Site_p.G444V|AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374088.3_Splice_Site_p.G525V	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	525					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TGATGGCCACCCTGGAATACA	0.582																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.e6-1		AT-hook transcription factor							39.0	37.0	38.0					9																	117129977		2203	4300	6503	SO:0001630	splice_region_variant	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117129977C>A	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1574-1G>T	9.37:g.117129977C>A						AKNA_ENST00000312033.3_Splice_Site_p.G525_splice|AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374075.5_Splice_Site_p.G444_splice|AKNA_ENST00000374088.3_Splice_Site_p.G525_splice	p.G525_splice	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			6	1735	-			525					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Splice_Site	SNP	ENST00000307564.4	37	c.1573_splice	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.224730	0.58668	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000374075;ENST00000312033	T;T;T;T	0.32988	2.66;2.66;2.66;1.43	4.9	2.08	0.27032	.	0.521412	0.17848	N	0.159952	T	0.41190	0.1148	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.75020	0.942;0.985	T	0.25012	-1.0144	10	0.72032	D	0.01	.	6.6128	0.22761	0.0:0.7162:0.0:0.2838	.	525;444	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	V	525;366;525;444;525	ENSP00000303769:G525V;ENSP00000363201:G525V;ENSP00000363188:G444V;ENSP00000309222:G525V	ENSP00000303769:G525V	G	-	2	0	AKNA	116169798	0.800000	0.28916	0.990000	0.47175	0.179000	0.23085	0.745000	0.26259	0.788000	0.33755	0.655000	0.94253	GGG		0.582	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767	Missense_Mutation	18	17	1	0	8.28177e-16	1	8.94431e-16	18	17				
HMCN1	83872	broad.mit.edu	37	1	186009011	186009011	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:186009011G>A	ENST00000271588.4	+	39	6409	c.6180G>A	c.(6178-6180)caG>caA	p.Q2060Q	HMCN1_ENST00000367492.2_Splice_Site_p.Q2060Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2060	Ig-like C2-type 18.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGATTACAGGTACCTTCAT	0.413																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.e39+1		hemicentin 1							104.0	100.0	101.0					1																	186009011		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186009011G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6180+1G>A	1.37:g.186009011G>A						HMCN1_ENST00000367492.2_Splice_Site_p.Q2060_splice	p.Q2060_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			39	6409	+			2060			Ig-like C2-type 18.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37	c.6180_splice	CCDS30956.1																																																																																				0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Silent	10	31	0	0	0	1	0	10	31				
NISCH	11188	broad.mit.edu	37	3	52526219	52526219	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:52526219C>T	ENST00000479054.1	+	22	4308	c.4236C>T	c.(4234-4236)cgC>cgT	p.R1412R	NISCH_ENST00000345716.4_Silent_p.R1412R			Q9Y2I1	NISCH_HUMAN	nischarin	1412					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	ATGGCCGCCGCGTCCGGGACC	0.627																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(4234-4236)cgC>cgT		nischarin							69.0	72.0	71.0					3																	52526219		2203	4299	6502	SO:0001819	synonymous_variant	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52526219C>T	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4236C>T	3.37:g.52526219C>T						NISCH_ENST00000479054.1_Silent_p.R1412R	p.R1412R	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	21	4370	+			1412					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	c.4236C>T	CCDS33767.1																																																																																				0.627	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		18	62	0	0	0	1	0	18	62				
GPC6	10082	broad.mit.edu	37	13	95034757	95034757	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:95034757G>A	ENST00000377047.4	+	7	1857	c.1242G>A	c.(1240-1242)gcG>gcA	p.A414A		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	414					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GCGTGACAGCGGGCACGTCCA	0.532																																						ENST00000377047.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38						c.(1240-1242)gcG>gcA		glypican 6							147.0	133.0	137.0					13																	95034757		2203	4300	6503	SO:0001819	synonymous_variant	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:95034757G>A	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.1242G>A	13.37:g.95034757G>A							p.A414A	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN			7	1857	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	414					A8K279|Q96SG5|Q96SG8|Q9H1P4	Silent	SNP	ENST00000377047.4	37	c.1242G>A	CCDS9469.1																																																																																				0.532	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		18	16	0	0	0	1	0	18	16				
VWF	7450	broad.mit.edu	37	12	6135163	6135163	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:6135163T>A	ENST00000261405.5	-	23	3271	c.3017A>T	c.(3016-3018)gAc>gTc	p.D1006V		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1006	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCTGGTGAGGTCATTGTTCTG	0.527																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(3016-3018)gAc>gTc		von Willebrand factor	Antihemophilic Factor(DB00025)						114.0	105.0	108.0					12																	6135163		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6135163T>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.3017A>T	12.37:g.6135163T>A	ENSP00000261405:p.Asp1006Val						p.D1006V	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			23	3271	-			1006			VWFD 3.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.3017A>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.215643	0.79352	.	.	ENSG00000110799	ENST00000261405	T	0.75050	-0.9	4.84	4.84	0.62591	von Willebrand factor, type D domain (3);	0.000000	0.44902	D	0.000407	D	0.91157	0.7215	H	0.98295	4.195	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.94180	0.7431	10	0.87932	D	0	.	13.756	0.62937	0.0:0.0:0.0:1.0	.	1006	P04275	VWF_HUMAN	V	1006	ENSP00000261405:D1006V	ENSP00000261405:D1006V	D	-	2	0	VWF	6005424	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.507000	0.81676	2.027000	0.59764	0.459000	0.35465	GAC		0.527	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		15	47	0	0	0	1	0	15	47				
CLCA1	1179	broad.mit.edu	37	1	86942145	86942145	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:86942145C>T	ENST00000234701.3	+	5	817	c.466C>T	c.(466-468)Cat>Tat	p.H156Y	CLCA1_ENST00000394711.1_Missense_Mutation_p.H156Y			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	156	Metalloprotease domain. {ECO:0000269|PubMed:23112050}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGCATTTGTCCATGAGTGGGC	0.353																																						ENST00000234701.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(466-468)Cat>Tat		chloride channel accessory 1							99.0	98.0	98.0					1																	86942145		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86942145C>T		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.466C>T	1.37:g.86942145C>T	ENSP00000234701:p.His156Tyr					CLCA1_ENST00000394711.1_Missense_Mutation_p.H156Y	p.H156Y			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	5	817	+		Lung NSC(277;0.239)	156					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.466C>T	CCDS709.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453942	0.84209	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.20069	2.1;2.1	5.85	5.85	0.93711	Chloride channel calcium-activated (1);	0.056686	0.64402	N	0.000002	T	0.53578	0.1805	M	0.92784	3.345	0.40690	D	0.982385	D	0.89917	1.0	D	0.91635	0.999	T	0.64588	-0.6372	10	0.87932	D	0	-22.1946	19.7493	0.96261	0.0:1.0:0.0:0.0	.	156	A8K7I4	CLCA1_HUMAN	Y	156	ENSP00000234701:H156Y;ENSP00000378200:H156Y	ENSP00000234701:H156Y	H	+	1	0	CLCA1	86714733	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.516000	0.67055	2.767000	0.95098	0.563000	0.77884	CAT		0.353	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		9	28	0	0	0	1	0	9	28				
ADRA1D	146	broad.mit.edu	37	20	4202253	4202253	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:4202253C>T	ENST00000379453.4	-	2	1752	c.1636G>A	c.(1636-1638)Gtc>Atc	p.V546I		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	546				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TCGTGTGGGACGCCTAGGGAC	0.667																																						ENST00000379453.4																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1636-1638)Gtc>Atc		adrenoceptor alpha 1D	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)						25.0	28.0	27.0					20																	4202253		2203	4298	6501	SO:0001583	missense	146				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr20:4202253C>T	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1636G>A	20.37:g.4202253C>T	ENSP00000368766:p.Val546Ile						p.V546I	NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN			2	1752	-			546	KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).				Q9NPY0	Missense_Mutation	SNP	ENST00000379453.4	37	c.1636G>A	CCDS13079.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066428	0.36470	.	.	ENSG00000171873	ENST00000379453	T	0.60299	0.2	3.48	3.48	0.39840	.	154.089000	0.00166	U	0.000000	T	0.48502	0.1503	L	0.31207	0.915	0.28313	N	0.922596	B	0.31705	0.336	B	0.26864	0.074	T	0.38112	-0.9676	10	0.20519	T	0.43	.	12.8115	0.57641	0.0:1.0:0.0:0.0	.	546	P25100	ADA1D_HUMAN	I	546	ENSP00000368766:V546I	ENSP00000368766:V546I	V	-	1	0	ADRA1D	4150253	0.765000	0.28485	0.029000	0.17559	0.631000	0.37964	1.177000	0.31969	1.893000	0.54813	0.305000	0.20034	GTC		0.667	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	NM_000678		3	23	0	0	0	1	0	3	23				
GLI2	2736	broad.mit.edu	37	2	121708835	121708835	+	Missense_Mutation	SNP	G	G	A	rs540240518		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:121708835G>A	ENST00000452319.1	+	4	331	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.G91S					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGCCCTCAGCGGCAGCCCTGT	0.632													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17960	0.0		0.0	False		,,,				2504	0.0					ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(271-273)Ggc>Agc		GLI family zinc finger 2							98.0	111.0	107.0					2																	121708835		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121708835G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.271G>A	2.37:g.121708835G>A	ENSP00000390436:p.Gly91Ser					GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.G91S|GLI2_ENST00000314490.11_5'UTR	p.G91S			P10070	GLI2_HUMAN			4	331	+	Renal(3;0.0496)	Prostate(154;0.0623)	91						Missense_Mutation	SNP	ENST00000452319.1	37	c.271G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043608	0.75732	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.41400	1.0;1.0	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70016	0.958;0.967;0.955	T	0.40496	-0.9560	10	0.05525	T	0.97	.	19.1082	0.93305	0.0:0.0:1.0:0.0	.	91;91;91	B4DT63;P10070;Q0VGA0	.;GLI2_HUMAN;.	S	91	ENSP00000390436:G91S;ENSP00000354586:G91S	ENSP00000354586:G91S	G	+	1	0	GLI2	121425305	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.611000	0.74183	2.751000	0.94390	0.555000	0.69702	GGC		0.632	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		7	115	0	0	0	1	0	7	115				
PLBD2	196463	broad.mit.edu	37	12	113810526	113810526	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:113810526G>A	ENST00000280800.3	+	3	488	c.457G>A	c.(457-459)Gag>Aag	p.E153K	PLBD2_ENST00000545182.2_Missense_Mutation_p.E153K	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	153					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CGGCTACTGCGAGAGGCTGAA	0.572																																						ENST00000280800.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(457-459)Gag>Aag		phospholipase B domain containing 2							133.0	133.0	133.0					12																	113810526		2203	4300	6503	SO:0001583	missense	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113810526G>A	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.457G>A	12.37:g.113810526G>A	ENSP00000280800:p.Glu153Lys					PLBD2_ENST00000545182.2_Missense_Mutation_p.E153K	p.E153K	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN			3	488	+			153					F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	37	c.457G>A	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	G	9.689	1.151503	0.21371	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.15718	2.4;2.4	5.01	5.01	0.66863	.	0.109676	0.64402	D	0.000010	T	0.16938	0.0407	L	0.43923	1.385	0.36074	D	0.842318	B;B	0.23806	0.091;0.085	B;B	0.22386	0.02;0.039	T	0.09143	-1.0688	10	0.39692	T	0.17	-40.2479	14.3594	0.66761	0.0:0.1938:0.8062:0.0	.	153;153	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	K	153	ENSP00000443463:E153K;ENSP00000280800:E153K	ENSP00000280800:E153K	E	+	1	0	PLBD2	112294909	0.999000	0.42202	0.997000	0.53966	0.161000	0.22273	2.873000	0.48475	2.332000	0.79248	0.462000	0.41574	GAG		0.572	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		32	72	0	0	0	1	0	32	72				
PCID2	55795	broad.mit.edu	37	13	113849441	113849441	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:113849441T>C	ENST00000337344.4	-	6	385		c.e6-2		PCID2_ENST00000375477.1_Splice_Site|PCID2_ENST00000375459.1_Splice_Site|PCID2_ENST00000375457.2_Splice_Site|PCID2_ENST00000375479.2_Splice_Site|PCID2_ENST00000246505.5_Splice_Site	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2						negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GGCAGAGCCCTGCAGGGCAAA	0.453																																						ENST00000375457.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20						c.e6-2		PCI domain containing 2							90.0	89.0	89.0					13																	113849441		2203	4300	6503	SO:0001630	splice_region_variant	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113849441T>C	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.309-2A>G	13.37:g.113849441T>C						PCID2_ENST00000246505.5_Splice_Site|PCID2_ENST00000337344.4_Splice_Site|PCID2_ENST00000375459.1_Splice_Site|PCID2_ENST00000375477.1_Splice_Site|PCID2_ENST00000375479.2_Splice_Site|PCID2_ENST00000351317.3_Intron		NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		6	899	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)						A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Splice_Site	SNP	ENST00000337344.4	37		CCDS9532.2	.	.	.	.	.	.	.	.	.	.	T	19.11	3.763504	0.69763	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000246506	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3413	0.66627	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCID2	112897442	1.000000	0.71417	0.990000	0.47175	0.811000	0.45836	5.626000	0.67777	1.932000	0.55993	0.460000	0.39030	.		0.453	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386	Intron	14	26	0	0	0	1	0	14	26				
LRRC41	10489	broad.mit.edu	37	1	46746931	46746931	+	Missense_Mutation	SNP	C	C	T	rs150782403		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:46746931C>T	ENST00000343304.6	-	5	1907	c.1622G>A	c.(1621-1623)cGt>cAt	p.R541H	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	541					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CACGATAGCACGTGTCAGCTC	0.637																																						ENST00000343304.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(1621-1623)cGt>cAt		leucine rich repeat containing 41		C	HIS/ARG	0,4406		0,0,2203	80.0	64.0	69.0		1622	4.3	1.0	1	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LRRC41	NM_006369.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	541/813	46746931	1,13005	2203	4300	6503	SO:0001583	missense	10489							g.chr1:46746931C>T	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1622G>A	1.37:g.46746931C>T	ENSP00000343298:p.Arg541His					LRRC41_ENST00000472710.1_5'UTR	p.R541H	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			5	1907	-	Acute lymphoblastic leukemia(166;0.155)		541					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.1622G>A	CCDS533.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658442	0.29425	0.0	1.16E-4	ENSG00000132128	ENST00000343304;ENST00000371972	T	0.44881	0.91	5.42	4.31	0.51392	.	0.334641	0.29396	N	0.012272	T	0.16685	0.0401	N	0.02539	-0.55	0.28812	N	0.898167	B;B	0.11235	0.004;0.004	B;B	0.06405	0.002;0.002	T	0.10613	-1.0622	10	0.20046	T	0.44	-8.8583	9.0781	0.36534	0.0:0.7578:0.0:0.2422	.	541;541	Q15345-3;Q15345	.;LRC41_HUMAN	H	541;519	ENSP00000343298:R541H	ENSP00000343298:R541H	R	-	2	0	LRRC41	46519518	0.980000	0.34600	1.000000	0.80357	0.992000	0.81027	0.980000	0.29513	2.548000	0.85928	0.557000	0.71058	CGT		0.637	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		11	37	0	0	0	1	0	11	37				
RPAP2	79871	broad.mit.edu	37	1	92789302	92789302	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:92789302C>T	ENST00000610020.1	+	8	934	c.825C>T	c.(823-825)ggC>ggT	p.G275G	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	275					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGCAGTTAGGCGATTGCAAAT	0.373																																						ENST00000370343.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22						c.(823-825)ggC>ggT		RNA polymerase II associated protein 2							117.0	115.0	116.0					1																	92789302		2203	4300	6503	SO:0001819	synonymous_variant	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92789302C>T	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.825C>T	1.37:g.92789302C>T						RPAP2_ENST00000484158.1_3'UTR	p.G275G	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	8	934	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	275					C9JKB5|Q49AS7|Q9H8Y2	Silent	SNP	ENST00000610020.1	37	c.825C>T	CCDS740.1																																																																																				0.373	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		26	84	0	0	0	1	0	26	84				
SPATA18	132671	broad.mit.edu	37	4	52960705	52960705	+	Missense_Mutation	SNP	C	C	T	rs374841570		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:52960705C>T	ENST00000295213.4	+	12	1950	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	SPATA18_ENST00000419395.2_Missense_Mutation_p.R494W	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	526					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTCTCGAAGTCGGAGTCCTTC	0.348																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1576-1578)Cgg>Tgg		spermatogenesis associated 18		C	TRP/ARG	0,4406		0,0,2203	112.0	117.0	115.0		1576	4.8	1.0	4		115	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPATA18	NM_145263.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	526/539	52960705	1,13005	2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52960705C>T	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1576C>T	4.37:g.52960705C>T	ENSP00000295213:p.Arg526Trp					SPATA18_ENST00000419395.2_Missense_Mutation_p.R494W	p.R526W	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		12	1950	+			526					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1576C>T	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269392	0.80469	0.0	1.16E-4	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.36699	1.24;1.26	4.84	4.84	0.62591	.	0.197922	0.43579	D	0.000555	T	0.56381	0.1981	M	0.61703	1.905	0.42626	D	0.993367	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.59010	-0.7534	10	0.87932	D	0	-9.9646	13.6443	0.62272	0.0:1.0:0.0:0.0	.	494;526	Q8TC71-2;Q8TC71	.;MIEAP_HUMAN	W	526;494	ENSP00000295213:R526W;ENSP00000415309:R494W	ENSP00000295213:R526W	R	+	1	2	SPATA18	52655462	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.711000	0.54868	2.677000	0.91161	0.655000	0.94253	CGG		0.348	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		4	38	0	0	0	1	0	4	38				
MEX3B	84206	broad.mit.edu	37	15	82336338	82336338	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:82336338C>T	ENST00000329713.4	-	2	1308	c.873G>A	c.(871-873)tcG>tcA	p.S291S	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	291					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CACTGCCAAGCGAGCTGGAGC	0.692																																						ENST00000329713.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(871-873)tcG>tcA		mex-3 RNA binding family member B							32.0	39.0	37.0					15																	82336338		2200	4294	6494	SO:0001819	synonymous_variant	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82336338C>T	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.873G>A	15.37:g.82336338C>T						MEX3B_ENST00000558133.1_3'UTR	p.S291S	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN			2	1308	-			291					Q4G0W1|Q8IVG2|Q9H0J0	Silent	SNP	ENST00000329713.4	37	c.873G>A	CCDS10319.1																																																																																				0.692	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		13	41	0	0	0	1	0	13	41				
GCC1	79571	broad.mit.edu	37	7	127223060	127223060	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:127223060C>T	ENST00000321407.2	-	2	1760	c.1336G>A	c.(1336-1338)Gcg>Acg	p.A446T	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	446					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTCCTGGCCGCAACCTGCAGC	0.557																																						ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1336-1338)Gcg>Acg		GRIP and coiled-coil domain containing 1							94.0	99.0	97.0					7																	127223060		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127223060C>T	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1336G>A	7.37:g.127223060C>T	ENSP00000318821:p.Ala446Thr					GCC1_ENST00000497650.1_5'UTR	p.A446T	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			2	1760	-			446					Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.1336G>A	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745218	0.69418	.	.	ENSG00000179562	ENST00000321407	T	0.15139	2.45	5.12	3.3	0.37823	.	0.000000	0.85682	D	0.000000	T	0.31827	0.0809	M	0.66939	2.045	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.14476	-1.0471	10	0.18276	T	0.48	-5.7036	6.6895	0.23163	0.176:0.7331:0.0:0.0909	.	446	Q96CN9	GCC1_HUMAN	T	446	ENSP00000318821:A446T	ENSP00000318821:A446T	A	-	1	0	GCC1	127010296	1.000000	0.71417	0.800000	0.32199	0.948000	0.59901	6.994000	0.76251	0.660000	0.30964	0.655000	0.94253	GCG		0.557	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		20	64	0	0	0	1	0	20	64				
SNRNP200	23020	broad.mit.edu	37	2	96955623	96955623	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:96955623G>A	ENST00000323853.5	-	21	2931	c.2854C>T	c.(2854-2856)Cgc>Tgc	p.R952C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	952					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCTAGTCGGCGCTGGTCCAGC	0.552																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(2854-2856)Cgc>Tgc		small nuclear ribonucleoprotein 200kDa (U5)							114.0	110.0	111.0					2																	96955623		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96955623G>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.2854C>T	2.37:g.96955623G>A	ENSP00000317123:p.Arg952Cys					SNRNP200_ENST00000349783.5_Intron	p.R952C	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			21	2931	-			952					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.2854C>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650904	0.87958	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	T	0.44083	0.93	5.67	4.78	0.61160	.	0.061238	0.64402	D	0.000005	T	0.68659	0.3025	H	0.95539	3.685	0.80722	D	1	D	0.57899	0.981	P	0.58266	0.836	T	0.76806	-0.2823	10	0.72032	D	0.01	-12.2051	10.5843	0.45273	0.0:0.1445:0.7056:0.1499	.	952	O75643	U520_HUMAN	C	952;627	ENSP00000317123:R952C	ENSP00000317123:R952C	R	-	1	0	SNRNP200	96319350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.343000	0.72986	1.373000	0.46208	0.655000	0.94253	CGC		0.552	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		5	73	0	0	0	1	0	5	73				
GOLGB1	2804	broad.mit.edu	37	3	121437312	121437312	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:121437312C>T	ENST00000340645.5	-	8	918	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E270K	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	265					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AAGGATTCTTCGTGTTCCTCA	0.433																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(808-810)Gaa>Aaa		golgin B1							113.0	108.0	110.0					3																	121437312		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121437312C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.793G>A	3.37:g.121437312C>T	ENSP00000341848:p.Glu265Lys					GOLGB1_ENST00000340645.5_Missense_Mutation_p.E265K	p.E270K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	8	918	-			265					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.808G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672423	0.67928	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	T;T;T	0.38401	1.68;1.68;1.14	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000009	T	0.57475	0.2056	M	0.77103	2.36	0.34198	D	0.672854	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.80764	0.994;0.992;0.994;0.992;0.994	T	0.62115	-0.6922	10	0.17369	T	0.5	.	14.1153	0.65149	0.0:1.0:0.0:0.0	.	190;229;270;270;265	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	K	265;270;229;77	ENSP00000341848:E265K;ENSP00000377275:E270K;ENSP00000418231:E229K	ENSP00000341848:E265K	E	-	1	0	GOLGB1	122920002	0.998000	0.40836	0.998000	0.56505	0.966000	0.64601	4.544000	0.60691	2.774000	0.95407	0.655000	0.94253	GAA		0.433	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		5	59	0	0	0	1	0	5	59				
VCPIP1	80124	broad.mit.edu	37	8	67577666	67577666	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:67577666A>G	ENST00000310421.4	-	1	1786	c.1528T>C	c.(1528-1530)Ttt>Ctt	p.F510L	C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	510					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTCAAGGGAAAGCTGTAATTT	0.423																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1528-1530)Ttt>Ctt		valosin containing protein (p97)/p47 complex interacting protein 1							166.0	175.0	172.0					8																	67577666		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67577666A>G	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1528T>C	8.37:g.67577666A>G	ENSP00000309031:p.Phe510Leu						p.F510L	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1786	-		Lung NSC(129;0.142)|all_lung(136;0.227)	510					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.1528T>C	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.258339	0.39896	.	.	ENSG00000175073	ENST00000310421	T	0.38722	1.12	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	L	0.43923	1.385	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.51779	-0.8662	10	0.38643	T	0.18	-12.7325	15.2518	0.73552	1.0:0.0:0.0:0.0	.	510	Q96JH7	VCIP1_HUMAN	L	510	ENSP00000309031:F510L	ENSP00000309031:F510L	F	-	1	0	VCPIP1	67740220	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	1.991000	0.58162	0.533000	0.62120	TTT		0.423	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			65	147	0	0	0	1	0	65	147				
SLC6A13	6540	broad.mit.edu	37	12	346452	346452	+	Missense_Mutation	SNP	G	G	A	rs374740428		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:346452G>A	ENST00000343164.4	-	6	620	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	SLC6A13_ENST00000445055.2_Missense_Mutation_p.R98W	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	190					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TTCAAGACCCGCCGCCTGGGG	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17929	0.0		0.0	False		,,,				2504	0.0					ENST00000343164.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28						c.(568-570)Cgg>Tgg		solute carrier family 6 (neurotransmitter transporter), member 13		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	48.0	54.0	52.0		292,568	4.6	1.0	12		52	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC6A13	NM_001190997.2,NM_016615.4	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	98/511,190/603	346452	1,13005	2203	4300	6503	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:346452G>A	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.568C>T	12.37:g.346452G>A	ENSP00000339260:p.Arg190Trp					SLC6A13_ENST00000445055.2_Missense_Mutation_p.R98W	p.R190W	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		6	620	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		190					B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.568C>T	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828245	0.71143	0.0	1.16E-4	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164;ENST00000546319	T;T;T	0.75260	-0.92;-0.92;-0.92	5.48	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.89157	0.6635	M	0.93507	3.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.91300	0.5066	10	0.51188	T	0.08	.	14.8879	0.70584	0.0:0.0:0.6722:0.3278	.	98;169;190	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	W	98;169;190;98	ENSP00000407104:R98W;ENSP00000339260:R190W;ENSP00000444606:R98W	ENSP00000318097:R169W	R	-	1	2	SLC6A13	216713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.579000	0.36536	1.534000	0.49203	0.638000	0.83543	CGG		0.617	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		18	39	0	0	0	1	0	18	39				
ZNF224	7767	broad.mit.edu	37	19	44611289	44611289	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:44611289C>T	ENST00000336976.6	+	6	1230	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	326					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TAAGAGCTTTCGTCAGAGATC	0.433																																						ENST00000336976.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						c.(976-978)Cgt>Tgt		zinc finger protein 224							173.0	168.0	169.0					19																	44611289		2203	4300	6503	SO:0001583	missense	7767				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:44611289C>T	AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.976C>T	19.37:g.44611289C>T	ENSP00000337368:p.Arg326Cys					AC084219.4_ENST00000592946.1_RNA	p.R326C	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN			6	1230	+		Prostate(69;0.0435)	326					A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	ENST00000336976.6	37	c.976C>T	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	c	16.41	3.116016	0.56505	.	.	ENSG00000186019	ENST00000336976	T	0.18502	2.21	2.4	-0.0686	0.13755	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21427	0.0516	L	0.33710	1.025	0.09310	N	1	D	0.76494	0.999	D	0.64877	0.93	T	0.12760	-1.0535	9	0.46703	T	0.11	.	3.207	0.06670	0.3078:0.2185:0.0:0.4736	.	326	Q9NZL3	ZN224_HUMAN	C	326	ENSP00000337368:R326C	ENSP00000337368:R326C	R	+	1	0	ZNF224	49303129	0.000000	0.05858	0.000000	0.03702	0.924000	0.55760	-2.168000	0.01270	-0.043000	0.13513	0.591000	0.81541	CGT		0.433	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		17	136	0	0	0	1	0	17	136				
KLHDC1	122773	broad.mit.edu	37	14	50176534	50176534	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:50176534A>G	ENST00000359332.2	+	3	365	c.275A>G	c.(274-276)tAc>tGc	p.Y92C	RP11-831F12.2_ENST00000557160.1_RNA	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	92						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					GACAAAGGATACAGCAATCGA	0.358																																						ENST00000359332.2																			0				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12						c.(274-276)tAc>tGc		kelch domain containing 1							98.0	92.0	94.0					14																	50176534		2203	4300	6503	SO:0001583	missense	122773					cytoplasm		g.chr14:50176534A>G	AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.275A>G	14.37:g.50176534A>G	ENSP00000352282:p.Tyr92Cys						p.Y92C	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN			3	365	+	all_epithelial(31;0.00244)|Breast(41;0.00964)		92					B3KXD9|Q8WYI1	Missense_Mutation	SNP	ENST00000359332.2	37	c.275A>G	CCDS9692.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.581104	0.65992	.	.	ENSG00000197776	ENST00000359332	D	0.92858	-3.12	5.16	5.16	0.70880	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.246864	0.42682	D	0.000679	D	0.94964	0.8371	M	0.64567	1.98	0.53005	D	0.99996	D	0.89917	1.0	D	0.87578	0.998	D	0.94445	0.7662	10	0.40728	T	0.16	-10.4457	15.2901	0.73859	1.0:0.0:0.0:0.0	.	92	Q8N7A1	KLDC1_HUMAN	C	92	ENSP00000352282:Y92C	ENSP00000352282:Y92C	Y	+	2	0	KLHDC1	49246284	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.575000	0.82447	2.080000	0.62538	0.379000	0.24179	TAC		0.358	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276882.2	NM_172193		12	32	0	0	0	1	0	12	32				
AHNAK2	113146	broad.mit.edu	37	14	105409688	105409688	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:105409688C>T	ENST00000333244.5	-	7	12219	c.12100G>A	c.(12100-12102)Gtg>Atg	p.V4034M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4034						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGAGTTTCACGTCCACTTGG	0.637																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(12100-12102)Gtg>Atg		AHNAK nucleoprotein 2							100.0	106.0	104.0					14																	105409688		1918	4113	6031	SO:0001583	missense	113146					nucleus		g.chr14:105409688C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12100G>A	14.37:g.105409688C>T	ENSP00000353114:p.Val4034Met					AHNAK2_ENST00000557457.1_Intron	p.V4034M	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12219	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4034					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.12100G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	11.70	1.717587	0.30413	.	.	ENSG00000185567	ENST00000333244	T	0.01025	5.43	3.98	-7.97	0.01139	.	.	.	.	.	T	0.00845	0.0028	L	0.39147	1.195	0.09310	N	1	P	0.45212	0.853	B	0.43950	0.437	T	0.23511	-1.0186	9	0.42905	T	0.14	.	0.8752	0.01223	0.1804:0.2132:0.2229:0.3835	.	4034	Q8IVF2	AHNK2_HUMAN	M	4034	ENSP00000353114:V4034M	ENSP00000353114:V4034M	V	-	1	0	AHNAK2	104480733	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.947000	0.03901	-1.353000	0.02191	-3.724000	0.00023	GTG		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		12	184	0	0	0	1	0	12	184				
JAKMIP3	282973	broad.mit.edu	37	10	133976844	133976844	+	Silent	SNP	C	C	A	rs143722443		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:133976844C>A	ENST00000298622.4	+	19	2484	c.2346C>A	c.(2344-2346)gtC>gtA	p.V782V	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	782						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGCGCCAGGTCATGAGTGAGC	0.687																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(2344-2346)gtC>gtA		Janus kinase and microtubule interacting protein 3							57.0	41.0	47.0					10																	133976844		2202	4298	6500	SO:0001819	synonymous_variant	282973							g.chr10:133976844C>A	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.2346C>A	10.37:g.133976844C>A						JAKMIP3_ENST00000477275.1_3'UTR	p.V782V	NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	19	2484	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	c.2346C>A	CCDS44494.1																																																																																				0.687	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		3	9	1	0	0.004672	1	0.00471798	3	9				
DUSP8	1850	broad.mit.edu	37	11	1578608	1578608	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:1578608C>T	ENST00000397374.3	-	7	1145	c.1018G>A	c.(1018-1020)Gct>Act	p.A340T	DUSP8_ENST00000331588.4_Missense_Mutation_p.A340T|DUSP8_ENST00000528778.1_5'Flank	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	340	Pro-rich.|Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CCTGTGGCAGCGCTCTCTGAG	0.796																																						ENST00000397374.3																			0				endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5						c.(1018-1020)Gct>Act		dual specificity phosphatase 8							6.0	8.0	8.0					11																	1578608		1542	3432	4974	SO:0001583	missense	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1578608C>T		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3074	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""H1 phosphatase, vaccinia virus homolog"""	602038	"""chromosome 11 open reading frame 81"""	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.1018G>A	11.37:g.1578608C>T	ENSP00000380530:p.Ala340Thr					DUSP8_ENST00000331588.4_Missense_Mutation_p.A340T	p.A340T	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	7	1145	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	340			Pro-rich.|Tyrosine-protein phosphatase.		Q86SS8	Missense_Mutation	SNP	ENST00000397374.3	37	c.1018G>A	CCDS7724.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763684	0.31228	.	.	ENSG00000184545	ENST00000397374;ENST00000331588	T;T	0.02301	4.35;4.35	3.47	1.48	0.22813	.	2.780900	0.02164	N	0.059078	T	0.02012	0.0063	N	0.22421	0.69	0.24118	N	0.995814	P	0.52577	0.954	B	0.36922	0.236	T	0.49960	-0.8883	10	0.20519	T	0.43	.	9.1203	0.36784	0.0:0.8123:0.0:0.1877	.	340	Q13202	DUS8_HUMAN	T	340	ENSP00000380530:A340T;ENSP00000329539:A340T	ENSP00000329539:A340T	A	-	1	0	DUSP8	1535184	0.950000	0.32346	0.985000	0.45067	0.803000	0.45373	2.063000	0.41423	0.659000	0.30945	0.306000	0.20318	GCT		0.796	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3	NM_004420		3	5	0	0	0	1	0	3	5				
DHX16	8449	broad.mit.edu	37	6	30630690	30630690	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:30630690C>T	ENST00000376442.3	-	8	1621	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K	DHX16_ENST00000480966.1_5'Flank|DHX16_ENST00000376437.5_5'Flank	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	476	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						AATCTCACCTCATTCCCAAGC	0.587																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(1426-1428)Gag>Aag		DEAH (Asp-Glu-Ala-His) box polypeptide 16							51.0	61.0	57.0					6																	30630690		1509	2707	4216	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30630690C>T	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1426G>A	6.37:g.30630690C>T	ENSP00000365625:p.Glu476Lys						p.E476K	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			8	1621	-			476			Helicase ATP-binding.		O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.1426G>A	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	36	5.931048	0.97116	.	.	ENSG00000204560	ENST00000376442	T	0.29655	1.56	5.91	5.91	0.95273	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.118480	0.56097	D	0.000022	T	0.50769	0.1635	M	0.80332	2.49	0.80722	D	1	D;P	0.55605	0.972;0.786	P;P	0.61070	0.883;0.665	T	0.53683	-0.8404	10	0.87932	D	0	.	19.0726	0.93145	0.0:1.0:0.0:0.0	.	416;476	B4DZ28;O60231	.;DHX16_HUMAN	K	476	ENSP00000365625:E476K	ENSP00000365625:E476K	E	-	1	0	DHX16	30738669	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.255000	0.78338	2.809000	0.96659	0.555000	0.69702	GAG		0.587	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		10	34	0	0	0	1	0	10	34				
SLTM	79811	broad.mit.edu	37	15	59179240	59179240	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:59179240G>A	ENST00000380516.2	-	19	2856	c.2769C>T	c.(2767-2769)agC>agT	p.S923S	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Silent_p.S492S	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	923					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACCCCGAAGCGCTGCTACGAT	0.562																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2767-2769)agC>agT		SAFB-like, transcription modulator							93.0	79.0	84.0					15																	59179240		2192	4292	6484	SO:0001819	synonymous_variant	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59179240G>A	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2769C>T	15.37:g.59179240G>A						SLTM_ENST00000536328.1_Silent_p.S492S	p.S923S	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			19	2856	-			923					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000380516.2	37	c.2769C>T	CCDS10168.2																																																																																				0.562	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		4	34	0	0	0	1	0	4	34				
DICER1	23405	broad.mit.edu	37	14	95571440	95571440	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:95571440G>A	ENST00000526495.1	-	22	3528	c.3237C>T	c.(3235-3237)ggC>ggT	p.G1079G	DICER1_ENST00000527414.1_Silent_p.G1079G|DICER1_ENST00000393063.1_Silent_p.G1079G|DICER1_ENST00000541352.1_Silent_p.G1079G|DICER1_ENST00000343455.3_Silent_p.G1079G|DICER1_ENST00000556045.1_Missense_Mutation_p.A3V			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1079					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGACTCCCACGCCAGCATCGC	0.488			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000556045.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(7-9)gCg>gTg		dicer 1, ribonuclease type III							99.0	102.0	101.0					14																	95571440		2203	4300	6503	SO:0001819	synonymous_variant	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95571440G>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3237C>T	14.37:g.95571440G>A						DICER1_ENST00000393063.1_Silent_p.G1079G|DICER1_ENST00000526495.1_Silent_p.G1079G|DICER1_ENST00000541352.1_Silent_p.G1079G|DICER1_ENST00000343455.3_Silent_p.G1079G|DICER1_ENST00000527414.1_Silent_p.G1079G	p.A3V			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	3	290	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	0					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.8C>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983094	0.34942	.	.	ENSG00000100697	ENST00000556045	D	0.86164	-2.08	5.65	-4.85	0.03142	.	.	.	.	.	T	0.72922	0.3521	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49799	-0.8901	7	.	.	.	-24.8009	7.8221	0.29294	0.47:0.2679:0.2621:0.0	.	3	B3KRG4	.	V	3	ENSP00000451041:A3V	.	A	-	2	0	DICER1	94641193	0.001000	0.12720	0.982000	0.44146	0.946000	0.59487	-1.320000	0.02700	-0.491000	0.06697	-0.448000	0.05591	GCG		0.488	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			30	53	0	0	0	1	0	30	53				
HHIP	64399	broad.mit.edu	37	4	145580838	145580838	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:145580838C>T	ENST00000296575.3	+	4	1334	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR|HHIP_ENST00000434550.2_Missense_Mutation_p.R227W	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	227					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GAGTGGGCTGCGGCAGCCCGT	0.448																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(679-681)Cgg>Tgg		hedgehog interacting protein							124.0	136.0	132.0					4																	145580838		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145580838C>T	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.679C>T	4.37:g.145580838C>T	ENSP00000296575:p.Arg227Trp					HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR|HHIP_ENST00000434550.2_Missense_Mutation_p.R227W	p.R227W	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	4	1334	+	all_hematologic(180;0.151)		227					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.679C>T	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806513	0.70682	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.53423	2.72;0.62	5.54	4.61	0.57282	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.094804	0.64402	D	0.000001	T	0.64875	0.2638	M	0.70595	2.14	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.985	T	0.67173	-0.5737	10	0.72032	D	0.01	-12.2996	11.0696	0.47995	0.4104:0.5896:0.0:0.0	.	227;227	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	W	227	ENSP00000296575:R227W;ENSP00000408587:R227W	ENSP00000296575:R227W	R	+	1	2	HHIP	145800288	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.304000	0.51866	2.620000	0.88729	0.555000	0.69702	CGG		0.448	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			12	132	0	0	0	1	0	12	132				
CADPS	8618	broad.mit.edu	37	3	62499360	62499360	+	Intron	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:62499360T>C	ENST00000383710.4	-	17	2931				CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Missense_Mutation_p.E868G	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator						catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GACAGGATGCTCATACATTTC	0.433																																						ENST00000283269.9																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(2602-2604)gAg>gGg		Ca++-dependent secretion activator							110.0	87.0	95.0					3																	62499360		2203	4300	6503	SO:0001627	intron_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62499360T>C	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2582-917A>G	3.37:g.62499360T>C						CADPS_ENST00000357948.3_Intron|CADPS_ENST00000383710.4_Intron	p.E868G	NM_183394.2	NP_899631.1	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	17	2814	-		Lung SC(41;0.0452)	865			Interaction with DRD2.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.2603A>G	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	T	9.407	1.079417	0.20227	.	.	ENSG00000163618	ENST00000283269	T	0.47177	0.85	5.41	5.41	0.78517	.	.	.	.	.	T	0.65333	0.2681	.	.	.	0.80722	D	1	D	0.61080	0.989	D	0.72982	0.979	T	0.62029	-0.6940	8	0.25751	T	0.34	.	15.7421	0.77905	0.0:0.0:0.0:1.0	.	868	Q9ULU8-3	.	G	868	ENSP00000283269:E868G	ENSP00000283269:E868G	E	-	2	0	CADPS	62474400	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.188000	0.69820	0.533000	0.62120	GAG		0.433	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		4	7	0	0	0	1	0	4	7				
TMX3	54495	broad.mit.edu	37	18	66344197	66344197	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:66344197C>A	ENST00000299608.2	-	16	1654	c.1338G>T	c.(1336-1338)aaG>aaT	p.K446N		NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	446					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						CTAATACATCCTTGGGCTCCT	0.353																																						ENST00000299608.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(1336-1338)aaG>aaT		thioredoxin-related transmembrane protein 3							135.0	113.0	120.0					18																	66344197		2203	4300	6503	SO:0001583	missense	54495				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr18:66344197C>A	BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.1338G>T	18.37:g.66344197C>A	ENSP00000299608:p.Lys446Asn						p.K446N	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN			16	1654	-			446					B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	37	c.1338G>T	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.540657	0.65085	.	.	ENSG00000166479	ENST00000299608	T	0.15256	2.44	5.61	-1.48	0.08745	.	0.134608	0.64402	D	0.000018	T	0.24699	0.0599	M	0.65975	2.015	0.80722	D	1	D	0.53151	0.958	P	0.50082	0.63	T	0.05566	-1.0877	10	0.87932	D	0	.	12.1987	0.54313	0.0:0.6069:0.0:0.3931	.	446	Q96JJ7	TMX3_HUMAN	N	446	ENSP00000299608:K446N	ENSP00000299608:K446N	K	-	3	2	TMX3	64495177	0.983000	0.35010	0.725000	0.30721	0.974000	0.67602	0.172000	0.16704	-0.526000	0.06383	0.650000	0.86243	AAG		0.353	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		7	74	1	0	2.0095e-06	1	2.09102e-06	7	74				
TAF1	6872	broad.mit.edu	37	X	70613199	70613199	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:70613199T>C	ENST00000373790.4	+	21	3148	c.3097T>C	c.(3097-3099)Tca>Cca	p.S1033P	TAF1_ENST00000276072.3_Missense_Mutation_p.S1054P|TAF1_ENST00000449580.1_Missense_Mutation_p.S1033P|TAF1_ENST00000423759.1_Missense_Mutation_p.S1054P	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1033					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GCGCACAATGTCAACAGAACA	0.453																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(3097-3099)Tca>Cca		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							129.0	117.0	121.0					X																	70613199		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70613199T>C		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3097T>C	X.37:g.70613199T>C	ENSP00000362895:p.Ser1033Pro					TAF1_ENST00000373790.4_Missense_Mutation_p.S1033P|TAF1_ENST00000423759.1_Missense_Mutation_p.S1054P|TAF1_ENST00000276072.3_Missense_Mutation_p.S1054P	p.S1033P			P21675	TAF1_HUMAN			21	3148	+	Renal(35;0.156)	all_lung(315;0.000321)	1033					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.3097T>C	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	33	5.209650	0.95069	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.13657	2.58;2.65;2.62;2.57	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	M	0.84511	2.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.999	T	0.48714	-0.9011	10	0.87932	D	0	.	14.6462	0.68762	0.0:0.0:0.0:1.0	.	1033;1033;1054	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	P	1033;1033;1054;1054	ENSP00000362895:S1033P;ENSP00000389000:S1033P;ENSP00000406549:S1054P;ENSP00000276072:S1054P	ENSP00000276072:S1054P	S	+	1	0	TAF1	70529924	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.482000	0.81143	1.839000	0.53478	0.486000	0.48141	TCA		0.453	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		28	6	0	0	0	1	0	28	6				
USP45	85015	broad.mit.edu	37	6	99885247	99885247	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:99885247T>C	ENST00000327681.6	-	17	2721	c.2189A>G	c.(2188-2190)tAc>tGc	p.Y730C	USP45_ENST00000392738.2_Missense_Mutation_p.Y410C|USP45_ENST00000500704.2_Missense_Mutation_p.Y730C|USP45_ENST00000369233.2_Missense_Mutation_p.Y682C|USP45_ENST00000539675.1_Missense_Mutation_p.Y23C	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	730	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		ATAGAGACCGTAGAGAACTTT	0.363																																						ENST00000327681.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(2188-2190)tAc>tGc		ubiquitin specific peptidase 45							113.0	100.0	105.0					6																	99885247		2203	4300	6503	SO:0001583	missense	85015				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:99885247T>C	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.2189A>G	6.37:g.99885247T>C	ENSP00000333376:p.Tyr730Cys					USP45_ENST00000369233.2_Missense_Mutation_p.Y682C|USP45_ENST00000500704.2_Missense_Mutation_p.Y730C|USP45_ENST00000539675.1_Missense_Mutation_p.Y23C|USP45_ENST00000392738.2_Missense_Mutation_p.Y410C	p.Y730C	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	17	2721	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	730					B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	ENST00000327681.6	37	c.2189A>G	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.760722	0.49468	.	.	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000539675;ENST00000369233	T;T;T;T;T	0.74632	-0.86;1.95;1.95;-0.86;-0.86	5.65	4.49	0.54785	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.073354	0.56097	N	0.000025	D	0.87845	0.6280	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90607	0.4549	10	0.87932	D	0	.	11.4189	0.49969	0.0:0.0707:0.0:0.9293	.	730;410	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	C	410;730;730;23;682	ENSP00000376495:Y410C;ENSP00000424372:Y730C;ENSP00000333376:Y730C;ENSP00000439569:Y23C;ENSP00000358236:Y682C	ENSP00000333376:Y730C	Y	-	2	0	USP45	99991968	1.000000	0.71417	1.000000	0.80357	0.124000	0.20399	7.535000	0.82014	0.980000	0.38523	-0.326000	0.08463	TAC		0.363	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		15	19	0	0	0	1	0	15	19				
APOO	79135	broad.mit.edu	37	X	23876823	23876823	+	Missense_Mutation	SNP	G	G	A	rs369973145		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:23876823G>A	ENST00000379226.4	-	6	647	c.416C>T	c.(415-417)cCg>cTg	p.P139L	APOO_ENST00000379220.3_Missense_Mutation_p.P120L	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	139					lipid transport (GO:0006869)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|mitochondrion (GO:0005739)|very-low-density lipoprotein particle (GO:0034361)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						GAAACCAGGCGGATACACTAG	0.403																																						ENST00000379226.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						c.(415-417)cCg>cTg		apolipoprotein O		G	LEU/PRO	0,3835		0,0,1632,571	154.0	125.0	135.0		416	5.7	1.0	X		135	1,6727		0,1,2427,1872	no	missense	APOO	NM_024122.4	98	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging	139/199	23876823	1,10562	2203	4300	6503	SO:0001583	missense	79135				lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle		g.chrX:23876823G>A	BC016814	CCDS14208.1	Xp22.11	2013-01-24	2007-01-17	2007-01-17	ENSG00000184831	ENSG00000184831		"""Apolipoproteins"""	28727	protein-coding gene	gene with protein product		300753	"""family with sequence similarity 121B"""	FAM121B		12975309, 16956892	Standard	NR_026545		Approved	MGC4825, My025	uc004dax.3	Q9BUR5	OTTHUMG00000021259	ENST00000379226.4:c.416C>T	X.37:g.23876823G>A	ENSP00000368528:p.Pro139Leu					APOO_ENST00000379220.3_Missense_Mutation_p.P120L	p.P139L	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN			6	647	-			139					B2R4K9|Q9H3J9	Missense_Mutation	SNP	ENST00000379226.4	37	c.416C>T	CCDS14208.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147046	0.77888	0.0	1.49E-4	ENSG00000184831	ENST00000379226;ENST00000439528;ENST00000379220	T;T;T	0.15834	2.39;2.39;2.39	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.44664	0.1304	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.46091	-0.9216	10	0.87932	D	0	-9.9969	15.5096	0.75769	0.0:0.0:1.0:0.0	.	139	Q9BUR5	APOO_HUMAN	L	139;119;120	ENSP00000368528:P139L;ENSP00000402557:P119L;ENSP00000368522:P120L	ENSP00000368522:P120L	P	-	2	0	APOO	23786744	1.000000	0.71417	0.985000	0.45067	0.860000	0.49131	6.139000	0.71728	2.371000	0.80710	0.506000	0.49869	CCG		0.403	APOO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056074.1	NM_024122		13	4	0	0	0	1	0	13	4				
FGF5	2250	broad.mit.edu	37	4	81207548	81207548	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:81207548G>T	ENST00000312465.7	+	3	755	c.529G>T	c.(529-531)Gca>Tca	p.A177S	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	177					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CTATGCCTCAGCAATACATAG	0.453																																						ENST00000312465.7																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(529-531)Gca>Tca		fibroblast growth factor 5							110.0	124.0	119.0					4																	81207548		2203	4300	6503	SO:0001583	missense	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81207548G>T	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.529G>T	4.37:g.81207548G>T	ENSP00000311697:p.Ala177Ser					FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	p.A177S	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN			3	755	+			177					B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	c.529G>T	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360356	0.41801	.	.	ENSG00000138675	ENST00000312465	D	0.81908	-1.55	5.82	5.82	0.92795	.	0.144362	0.64402	D	0.000007	T	0.81498	0.4835	L	0.41079	1.255	0.80722	D	1	P	0.41232	0.743	P	0.45946	0.498	T	0.75895	-0.3156	10	0.10636	T	0.68	.	20.0851	0.97797	0.0:0.0:1.0:0.0	.	177	P12034	FGF5_HUMAN	S	177	ENSP00000311697:A177S	ENSP00000311697:A177S	A	+	1	0	FGF5	81426572	1.000000	0.71417	0.970000	0.41538	0.008000	0.06430	7.895000	0.87343	2.758000	0.94735	0.650000	0.86243	GCA		0.453	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			6	91	1	0	0.00198382	1	0.00201126	6	91				
NPAT	4863	broad.mit.edu	37	11	108068119	108068119	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:108068119A>G	ENST00000278612.8	-	2	171	c.66T>C	c.(64-66)tcT>tcC	p.S22S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	22	Interaction with MIZF.|LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.|Required for activation of histone gene transcription and interaction with MIZF.			S -> Y (in Ref. 6; AAB02735). {ECO:0000305}.	positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCTGGCAGGTAGAAATGAGGT	0.308																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(64-66)tcT>tcC		nuclear protein, ataxia-telangiectasia locus							93.0	93.0	93.0					11																	108068119		1797	4056	5853	SO:0001819	synonymous_variant	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108068119A>G	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.66T>C	11.37:g.108068119A>G							p.S22S	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	2	171	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	22	S -> Y (in Ref. 6; AAB02735).		Interaction with MIZF.|LisH.|Required for activation of histone gene transcription and interaction with MIZF.		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	ENST00000278612.8	37	c.66T>C	CCDS41710.1																																																																																				0.308	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		12	65	0	0	0	1	0	12	65				
S100P	6286	broad.mit.edu	37	4	6695686	6695686	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:6695686C>T	ENST00000296370.3	+	1	891	c.27C>T	c.(25-27)ggC>ggT	p.G9G	AC093323.1_ENST00000596858.1_5'Flank|S100P_ENST00000513778.1_Intron	NM_005980.2	NP_005971.1	P25815	S100P_HUMAN	S100 calcium binding protein P	9					endothelial cell migration (GO:0043542)|response to organic substance (GO:0010033)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|magnesium ion binding (GO:0000287)			prostate(1)	1		Myeloproliferative disorder(84;0.0255)		Colorectal(103;0.011)	Cromoglicic acid(DB01003)	CAGCCATGGGCATGATCATAG	0.587																																						ENST00000296370.3																			0				prostate(1)	1						c.(25-27)ggC>ggT		S100 calcium binding protein P	Cromoglicate(DB01003)						74.0	65.0	68.0					4																	6695686		2203	4300	6503	SO:0001819	synonymous_variant	6286				endothelial cell migration	cytoplasm|nucleus	calcium ion binding|calcium-dependent protein binding|magnesium ion binding	g.chr4:6695686C>T	X65614	CCDS3391.1	4p16	2013-01-10	2001-11-28		ENSG00000163993	ENSG00000163993		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10504	protein-coding gene	gene with protein product		600614	"""S100 calcium-binding protein P"""			8341667, 7759097	Standard	NM_005980		Approved		uc003gjl.3	P25815	OTTHUMG00000090491	ENST00000296370.3:c.27C>T	4.37:g.6695686C>T						S100P_ENST00000513778.1_Intron	p.G9G	NM_005980.2	NP_005971.1	P25815	S100P_HUMAN		Colorectal(103;0.011)	1	891	+		Myeloproliferative disorder(84;0.0255)	9					Q5J7W2	Silent	SNP	ENST00000296370.3	37	c.27C>T	CCDS3391.1																																																																																				0.587	S100P-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206979.1	NM_005980		15	32	0	0	0	1	0	15	32				
C6orf118	168090	broad.mit.edu	37	6	165715064	165715064	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:165715064C>T	ENST00000230301.8	-	2	767	c.747G>A	c.(745-747)ctG>ctA	p.L249L	C6orf118_ENST00000543069.1_Silent_p.L145L	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	249										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCACCTGCTGCAGCTTTCTCT	0.607																																						ENST00000543069.1																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(433-435)ctG>ctA		chromosome 6 open reading frame 118							50.0	53.0	52.0					6																	165715064		2203	4300	6503	SO:0001819	synonymous_variant	168090							g.chr6:165715064C>T		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.747G>A	6.37:g.165715064C>T						C6orf118_ENST00000230301.8_Silent_p.L249L	p.L145L			Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	1016	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	249					Q8TC11	Silent	SNP	ENST00000230301.8	37	c.435G>A	CCDS5288.1																																																																																				0.607	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		7	83	0	0	0	1	0	7	83				
LTBP3	4054	broad.mit.edu	37	11	65307998	65307998	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:65307998T>C	ENST00000301873.5	-	22	3333	c.3065A>G	c.(3064-3066)aAg>aGg	p.K1022R	LTBP3_ENST00000532932.1_Missense_Mutation_p.K452R|LTBP3_ENST00000530785.1_Missense_Mutation_p.K25R|LTBP3_ENST00000322147.4_Missense_Mutation_p.K1022R|LTBP3_ENST00000536982.1_Missense_Mutation_p.K648R|LTBP3_ENST00000529189.1_Missense_Mutation_p.K25R	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1022	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GAAGCCCTGCTTGCAGTAGCA	0.652											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(3064-3066)aAg>aGg		latent transforming growth factor beta binding protein 3							70.0	55.0	60.0					11																	65307998		2201	4297	6498	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65307998T>C	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.3065A>G	11.37:g.65307998T>C	ENSP00000301873:p.Lys1022Arg		OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	LTBP3_ENST00000529189.1_Missense_Mutation_p.K25R|LTBP3_ENST00000536982.1_Missense_Mutation_p.K648R|LTBP3_ENST00000530785.1_Missense_Mutation_p.K25R|LTBP3_ENST00000322147.4_Missense_Mutation_p.K1022R|LTBP3_ENST00000532932.1_Missense_Mutation_p.K452R	p.K1022R	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			22	3333	-			1022			EGF-like 10; calcium-binding (Potential).		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.3065A>G	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.484056	0.84854	.	.	ENSG00000168056	ENST00000301874;ENST00000322147;ENST00000301873;ENST00000530785;ENST00000529189;ENST00000532932;ENST00000536982;ENST00000532661;ENST00000530866	T;D;D;T;D;T;T;D	0.92048	1.72;-2.96;-2.26;1.59;-2.96;1.72;1.72;-2.96	4.13	4.13	0.48395	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.244385	0.40302	N	0.001128	D	0.88496	0.6452	N	0.03608	-0.345	0.38733	D	0.953702	P;P;D;P;D;B;D	0.69078	0.717;0.801;0.973;0.698;0.991;0.143;0.997	P;B;P;B;P;B;D	0.80764	0.559;0.376;0.884;0.371;0.846;0.174;0.994	D	0.87326	0.2321	10	0.25106	T	0.35	.	11.102	0.48179	0.0:0.0:0.0:1.0	.	933;648;905;1022;1022;452;648	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2;B4DQL8	.;.;.;LTBP3_HUMAN;.;.;.	R	25;1022;1022;25;25;452;648;25;933	ENSP00000326647:K1022R;ENSP00000301873:K1022R;ENSP00000434315:K25R;ENSP00000434406:K25R;ENSP00000435530:K452R;ENSP00000441912:K648R;ENSP00000436341:K25R;ENSP00000435276:K933R	ENSP00000301873:K1022R	K	-	2	0	LTBP3	65064574	0.653000	0.27358	1.000000	0.80357	0.996000	0.88848	1.684000	0.37649	1.506000	0.48736	0.374000	0.22700	AAG		0.652	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		10	39	0	0	0	1	0	10	39				
MCM3AP	8888	broad.mit.edu	37	21	47665033	47665033	+	Missense_Mutation	SNP	C	C	T	rs17183248	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr21:47665033C>T	ENST00000397708.1	-	24	4980	c.4726G>A	c.(4726-4728)Gtc>Atc	p.V1576I	MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|AP001469.7_ENST00000444966.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.V1576I|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1576			V -> I (in dbSNP:rs17183248). {ECO:0000269|PubMed:16959974, ECO:0000269|Ref.2}.		DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.V1576I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCGTCTTCGACGTACTGAATG	0.542													C|||	43	0.00858626	0.0295	0.0058	5008	,	,		19372	0.0		0.0	False		,,,				2504	0.0					ENST00000397708.1																			1	Substitution - Missense(1)	p.V1576I(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(4726-4728)Gtc>Atc		minichromosome maintenance complex component 3 associated protein		C	ILE/VAL	124,4282	88.2+/-126.9	4,116,2083	54.0	57.0	56.0		4726	-3.3	0.1	21	dbSNP_123	56	2,8598	1.2+/-3.3	0,2,4298	yes	missense	MCM3AP	NM_003906.3	29	4,118,6381	TT,TC,CC		0.0233,2.8143,0.9688	benign	1576/1981	47665033	126,12880	2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47665033C>T	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4726G>A	21.37:g.47665033C>T	ENSP00000380820:p.Val1576Ile					MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.V1576I|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA	p.V1576I			O60318	MCM3A_HUMAN			24	4980	-	Breast(49;0.112)		1576		V -> I (in dbSNP:rs17183248).			C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.4726G>A	CCDS13734.1	13	0.005952380952380952	12	0.024390243902439025	1	0.0027624309392265192	0	0.0	0	0.0	C	5.774	0.327102	0.10900	0.028143	2.33E-4	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03386	3.95;3.95	5.31	-3.27	0.05048	.	0.520403	0.21443	N	0.074454	T	0.00608	0.0020	N	0.12961	0.28	0.09310	N	1	B;B	0.20780	0.009;0.048	B;B	0.09377	0.002;0.004	T	0.47459	-0.9116	10	0.10377	T	0.69	-4.043	8.8884	0.35418	0.0:0.3802:0.1015:0.5183	rs17183248	1576;71	O60318;B3KT88	MCM3A_HUMAN;.	I	1576;1576;71	ENSP00000380820:V1576I;ENSP00000291688:V1576I	ENSP00000291688:V1576I	V	-	1	0	MCM3AP	46489461	0.024000	0.19004	0.135000	0.22099	0.373000	0.29922	-0.355000	0.07671	-0.555000	0.06142	0.561000	0.74099	GTC		0.542	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		20	36	0	0	0	1	0	20	36				
SEMA4G	57715	broad.mit.edu	37	10	102737391	102737391	+	Silent	SNP	G	G	A	rs368885285		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:102737391G>A	ENST00000370250.4	+	4	712	c.339G>A	c.(337-339)acG>acA	p.T113T	RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Silent_p.T113T|SEMA4G_ENST00000210633.3_Silent_p.T113T|SEMA4G_ENST00000519756.1_3'UTR|MIR608_ENST00000384820.1_RNA	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	113	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TCCCACAGACGGAGTGCTTTA	0.572																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(337-339)acG>acA		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G		G	,	0,4406		0,0,2203	199.0	172.0	181.0		339,339	-10.6	0.1	10		181	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SEMA4G	NM_001203244.1,NM_017893.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	113/703,113/844	102737391	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102737391G>A	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.339G>A	10.37:g.102737391G>A						SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Silent_p.T113T|SEMA4G_ENST00000370250.4_Silent_p.T113T	p.T113T			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	4	417	+		Colorectal(252;0.234)	113			Sema.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Silent	SNP	ENST00000370250.4	37	c.339G>A																																																																																					0.572	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			29	56	0	0	0	1	0	29	56				
ANKMY1	51281	broad.mit.edu	37	2	241468861	241468861	+	Silent	SNP	G	G	A	rs147984796		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:241468861G>A	ENST00000272972.3	-	4	493	c.279C>T	c.(277-279)gaC>gaT	p.D93D	ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000391987.1_Silent_p.D93D|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000401804.1_Silent_p.D182D|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000536462.1_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	93							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		ACAGCCCCACGTCCTGGCTGC	0.592																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(277-279)gaC>gaT		ankyrin repeat and MYND domain containing 1		G	,	0,4406		0,0,2203	42.0	48.0	46.0		279,	-7.9	0.7	2	dbSNP_134	46	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,intron	ANKMY1	NM_016552.2,NM_017844.2	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	93/942,	241468861	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	51281						zinc ion binding	g.chr2:241468861G>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.279C>T	2.37:g.241468861G>A						ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000401804.1_Silent_p.D182D|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000272972.3_Silent_p.D93D|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000405523.3_Intron	p.D93D			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	5	645	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	93					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000272972.3	37	c.279C>T	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	G	9.510	1.105582	0.20632	0.0	3.49E-4	ENSG00000144504	ENST00000443318	.	.	.	4.91	-7.95	0.01148	.	.	.	.	.	T	0.52805	0.1757	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60244	-0.7301	4	.	.	.	-8.4016	11.6889	0.51503	0.7558:0.0:0.1395:0.1047	.	.	.	.	C	38	.	.	R	-	1	0	ANKMY1	241117534	0.647000	0.27304	0.653000	0.29593	0.864000	0.49448	-0.285000	0.08410	-1.730000	0.01362	-0.794000	0.03295	CGT		0.592	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		5	36	0	0	0	1	0	5	36				
PCMTD2	55251	broad.mit.edu	37	20	62904703	62904703	+	Missense_Mutation	SNP	G	G	A	rs139861996	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:62904703G>A	ENST00000308824.6	+	6	963	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	PCMTD2_ENST00000609372.1_Missense_Mutation_p.R129Q|PCMTD2_ENST00000369758.4_Missense_Mutation_p.R252Q|PCMTD2_ENST00000299468.7_Intron|PCMTD2_ENST00000266078.7_3'UTR	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	279	Poly-Arg.					cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGTTTAAACGAAGGAGAGTT	0.473													G|||	4	0.000798722	0.0	0.0	5008	,	,		17784	0.003		0.0	False		,,,				2504	0.001					ENST00000308824.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17						c.(835-837)cGa>cAa		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	84.0	93.0	90.0		755,836	5.4	0.1	20	dbSNP_134	90	1,8599		0,1,4299	yes	missense,missense	PCMTD2	NM_001104925.1,NM_018257.2	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	252/335,279/362	62904703	1,13005	2203	4300	6503	SO:0001583	missense	55251					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr20:62904703G>A	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 36"""	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.836G>A	20.37:g.62904703G>A	ENSP00000307854:p.Arg279Gln					PCMTD2_ENST00000369758.3_Missense_Mutation_p.R252Q|PCMTD2_ENST00000266078.6_Missense_Mutation_p.R55Q|PCMTD2_ENST00000299468.7_Intron	p.R279Q	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN			6	963	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		279			Poly-Arg.		E1P5H3|Q8IW60|Q9H4K2	Missense_Mutation	SNP	ENST00000308824.6	37	c.836G>A	CCDS13559.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	.	25.9	4.688415	0.88639	0.0	1.16E-4	ENSG00000203880	ENST00000369758;ENST00000308824;ENST00000266078	T;T;T	0.57273	0.41;1.29;0.41	5.41	5.41	0.78517	.	0.060169	0.64402	D	0.000003	T	0.56262	0.1973	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.58970	0.981;0.984	P;B	0.49637	0.617;0.413	T	0.66999	-0.5781	10	0.72032	D	0.01	-8.5701	19.2064	0.93732	0.0:0.0:1.0:0.0	.	252;279	Q9NV79-2;Q9NV79	.;PCMD2_HUMAN	Q	252;279;55	ENSP00000358773:R252Q;ENSP00000307854:R279Q;ENSP00000266078:R55Q	ENSP00000266078:R55Q	R	+	2	0	PCMTD2	62375147	0.996000	0.38824	0.119000	0.21687	0.989000	0.77384	5.276000	0.65580	2.523000	0.85059	0.655000	0.94253	CGA		0.473	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1	NM_018257		22	69	0	0	0	1	0	22	69				
KMT2A	4297	broad.mit.edu	37	11	118343381	118343381	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:118343381C>T	ENST00000389506.5	+	3	1507	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	KMT2A_ENST00000534358.1_Missense_Mutation_p.R503W|KMT2A_ENST00000354520.4_Missense_Mutation_p.R503W			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	503					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCCTGAGGAGCGGAGCGATAC	0.502																																						ENST00000534358.1																			0											c.(1507-1509)Cgg>Tgg		lysine (K)-specific methyltransferase 2A							114.0	120.0	118.0					11																	118343381		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118343381C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1507C>T	11.37:g.118343381C>T	ENSP00000374157:p.Arg503Trp					KMT2A_ENST00000354520.4_Missense_Mutation_p.R503W|KMT2A_ENST00000389506.5_Missense_Mutation_p.R503W	p.R503W	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	1530	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.1507C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	8.337	0.827840	0.16749	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520	D;T;D;D	0.82433	-1.61;3.35;-1.61;-1.58	5.13	4.21	0.49690	.	0.142736	0.49305	D	0.000158	T	0.68641	0.3023	N	0.19112	0.55	0.36192	D	0.850118	D;D;D	0.59357	0.985;0.985;0.979	B;B;B	0.37508	0.232;0.232;0.252	T	0.77264	-0.2652	10	0.72032	D	0.01	.	11.6189	0.51106	0.1399:0.7255:0.1347:0.0	.	503;503;536	E9PQG7;Q03164;E9PR05	.;MLL1_HUMAN;.	W	503;536;503;503	ENSP00000436786:R503W;ENSP00000432391:R536W;ENSP00000374157:R503W;ENSP00000346516:R503W	ENSP00000346516:R503W	R	+	1	2	MLL	117848591	1.000000	0.71417	0.986000	0.45419	0.987000	0.75469	2.395000	0.44459	1.272000	0.44329	0.491000	0.48974	CGG		0.502	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		22	103	0	0	0	1	0	22	103				
EPPK1	83481	broad.mit.edu	37	8	144940328	144940328	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:144940328C>T	ENST00000525985.1	-	2	7165	c.7094G>A	c.(7093-7095)cGc>cAc	p.R2365H				P58107	EPIPL_HUMAN	epiplakin 1	2365						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAGTAGCCGCGCCGGTAGGC	0.692																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7093-7095)cGc>cAc		epiplakin 1							222.0	214.0	217.0					8																	144940328		2180	4267	6447	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940328C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7094G>A	8.37:g.144940328C>T	ENSP00000436337:p.Arg2365His						p.R2365H			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	7165	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2365					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.7094G>A		.	.	.	.	.	.	.	.	.	.	C	29.0	4.972835	0.92919	.	.	ENSG00000227184	ENST00000525985	T	0.79247	-1.25	4.43	3.55	0.40652	.	.	.	.	.	D	0.89083	0.6614	M	0.92412	3.305	0.39114	D	0.961524	D	0.89917	1.0	D	0.97110	1.0	D	0.89917	0.4056	9	0.45353	T	0.12	.	10.4455	0.44490	0.0:0.9039:0.0:0.0961	.	2365	E9PPU0	.	H	2365	ENSP00000436337:R2365H	ENSP00000436337:R2365H	R	-	2	0	EPPK1	145012316	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.732000	0.62029	1.215000	0.43411	0.591000	0.81541	CGC		0.692	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		12	279	0	0	0	1	0	12	279				
CACNA1A	773	broad.mit.edu	37	19	13325397	13325397	+	Silent	SNP	G	G	A	rs368042511		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:13325397G>A	ENST00000360228.5	-	39	5756	c.5757C>T	c.(5755-5757)gaC>gaT	p.D1919D	CACNA1A_ENST00000573710.2_Silent_p.D1920D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1920					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCAGCTCAGCGTCCATCTGCT	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20186	0.0		0.0	False		,,,				2504	0.0					ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(5755-5757)gaC>gaT		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	G	,,,,	9,4365		0,9,2178	54.0	59.0	57.0		5775,5760,5757,5766,5775	-2.7	0.9	19		57	0,8538		0,0,4269	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	0,9,6447	AA,AG,GG		0.0,0.2058,0.0697	,,,,	1925/2267,1920/2262,1919/2507,1922/2264,1925/2513	13325397	9,12903	2187	4269	6456	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13325397G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5757C>T	19.37:g.13325397G>A						CACNA1A_ENST00000573710.2_Silent_p.D1920D	p.D1919D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		39	5756	-			1920					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.5757C>T	CCDS45998.1																																																																																				0.582	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		9	14	0	0	0	1	0	9	14				
EMX2	2018	broad.mit.edu	37	10	119303006	119303006	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:119303006G>A	ENST00000553456.3	+	1	1052	c.228G>A	c.(226-228)tcG>tcA	p.S76S	EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Silent_p.S76S|EMX2OS_ENST00000440007.1_RNA|EMX2OS_ENST00000450314.2_RNA	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	76					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		AGGCGGTCTCGCACCCGCCCA	0.726																																						ENST00000553456.3																			0				endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12						c.(226-228)tcG>tcA		empty spiracles homeobox 2							11.0	14.0	13.0					10																	119303006		2180	4218	6398	SO:0001819	synonymous_variant	2018					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:119303006G>A	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.228G>A	10.37:g.119303006G>A						EMX2_ENST00000442245.4_Silent_p.S76S|EMX2OS_ENST00000551288.1_RNA	p.S76S	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN		all cancers(201;0.0133)	1	1052	+		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)	76					G3V305|Q96NN8|Q9BQF4	Silent	SNP	ENST00000553456.3	37	c.228G>A	CCDS7601.1																																																																																				0.726	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098		3	12	0	0	0	1	0	3	12				
OR2T27	403239	broad.mit.edu	37	1	248813806	248813806	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:248813806C>A	ENST00000344889.3	-	1	379	c.380G>T	c.(379-381)tGc>tTc	p.C127F		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGAGGGTTGCAGATGGCTAC	0.542																																						ENST00000344889.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(379-381)tGc>tTc		olfactory receptor, family 2, subfamily T, member 27							95.0	48.0	64.0					1																	248813806		2202	4270	6472	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813806C>A		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.380G>T	1.37:g.248813806C>A	ENSP00000342008:p.Cys127Phe						p.C127F	NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	379	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	127						Missense_Mutation	SNP	ENST00000344889.3	37	c.380G>T	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	10.37	1.331281	0.24167	.	.	ENSG00000187701	ENST00000344889	T	0.34472	1.36	3.3	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000571	T	0.70263	0.3204	H	0.98089	4.145	0.35768	D	0.820661	D	0.89917	1.0	D	0.70487	0.969	T	0.82424	-0.0464	10	0.87932	D	0	.	11.0673	0.47982	0.187:0.813:0.0:0.0	.	127	Q8NH04	O2T27_HUMAN	F	127	ENSP00000342008:C127F	ENSP00000342008:C127F	C	-	2	0	OR2T27	246880429	0.997000	0.39634	0.070000	0.20053	0.068000	0.16541	3.751000	0.55165	0.713000	0.32060	0.194000	0.17425	TGC		0.542	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		14	117	1	0	9.16793e-09	1	9.65739e-09	14	117				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	14	0	0	0	1	0	3	14				
CC2D1A	54862	broad.mit.edu	37	19	14020732	14020732	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:14020732G>A	ENST00000318003.7	+	2	398	c.157G>A	c.(157-159)Ggg>Agg	p.G53R	CC2D1A_ENST00000589606.1_Missense_Mutation_p.G53R	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	53					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGCTTTGGTCGGGGGCCAGCC	0.577																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(157-159)Ggg>Agg		coiled-coil and C2 domain containing 1A							66.0	68.0	67.0					19																	14020732		1934	4137	6071	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14020732G>A	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.157G>A	19.37:g.14020732G>A	ENSP00000313601:p.Gly53Arg					CC2D1A_ENST00000589606.1_Missense_Mutation_p.G53R	p.G53R	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		2	398	+			53					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.157G>A	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568755	0.86439	.	.	ENSG00000132024	ENST00000318003;ENST00000389233	T	0.21361	2.01	5.43	5.43	0.79202	.	0.057995	0.64402	D	0.000002	T	0.39517	0.1081	M	0.62154	1.92	0.54753	D	0.999988	D;D	0.69078	0.997;0.996	P;P	0.57720	0.826;0.736	T	0.09907	-1.0653	10	0.52906	T	0.07	-26.5584	16.153	0.81636	0.0:0.0:1.0:0.0	.	53;53	Q6P1N0-2;Q6P1N0	.;C2D1A_HUMAN	R	53;28	ENSP00000313601:G53R	ENSP00000313601:G53R	G	+	1	0	CC2D1A	13881732	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	7.582000	0.82546	2.547000	0.85894	0.655000	0.94253	GGG		0.577	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		11	30	0	0	0	1	0	11	30				
OBSCN	84033	broad.mit.edu	37	1	228475944	228475944	+	Missense_Mutation	SNP	C	C	T	rs375232996		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:228475944C>T	ENST00000422127.1	+	37	10038	c.9994C>T	c.(9994-9996)Cgt>Tgt	p.R3332C	OBSCN_ENST00000570156.2_Missense_Mutation_p.R3761C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R451C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R451C|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2179C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3332C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3332	Ig-like 33.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGCAGATCCGTGGCCTGGC	0.607																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(11281-11283)Cgt>Tgt		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		C	CYS/ARG,CYS/ARG	1,4301		0,1,2150	118.0	126.0	123.0		9994,9994	-0.1	0.0	1		123	1,8499		0,1,4249	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	180,180	0,2,6399	TT,TC,CC		0.0118,0.0232,0.0156	benign,benign	3332/7969,3332/6621	228475944	2,12800	2151	4250	6401	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228475944C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9994C>T	1.37:g.228475944C>T	ENSP00000409493:p.Arg3332Cys					OBSCN_ENST00000366707.4_Missense_Mutation_p.R451C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3332C|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2179C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R451C|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3332C	p.R3761C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			42	11355	+		Prostate(94;0.0405)	2797			Ig-like 38.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.11281C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	8.579	0.881801	0.17467	2.32E-4	1.18E-4	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.05	-0.144	0.13440	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.790876	0.11710	N	0.537003	T	0.59390	0.2190	M	0.67397	2.05	0.21984	N	0.999439	B;B	0.15141	0.012;0.006	B;B	0.20184	0.028;0.009	T	0.50566	-0.8813	10	0.37606	T	0.19	.	5.8001	0.18410	0.1229:0.6033:0.0:0.2738	.	3332;3332	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	3332;3332;451;451;2179	ENSP00000284548:R3332C;ENSP00000409493:R3332C;ENSP00000355668:R451C;ENSP00000355670:R451C;ENSP00000352613:R2179C	ENSP00000284548:R3332C	R	+	1	0	OBSCN	226542567	0.000000	0.05858	0.018000	0.16275	0.011000	0.07611	-0.269000	0.08596	-0.171000	0.10797	-0.969000	0.02612	CGT		0.607	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		17	42	0	0	0	1	0	17	42				
PCDHB1	29930	broad.mit.edu	37	5	140431844	140431844	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140431844G>A	ENST00000306549.3	+	1	866	c.789G>A	c.(787-789)acG>acA	p.T263T		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	263	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGCCACGGTGACTGCCG	0.532																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(787-789)acG>acA									51.0	49.0	50.0					5																	140431844		2203	4300	6503	SO:0001819	synonymous_variant	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140431844G>A	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.789G>A	5.37:g.140431844G>A							p.T263T	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	866	+			263			Cadherin 3.		Q2M257	Silent	SNP	ENST00000306549.3	37	c.789G>A	CCDS4243.1																																																																																				0.532	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		6	30	0	0	0	1	0	6	30				
IGDCC3	9543	broad.mit.edu	37	15	65622631	65622631	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:65622631C>A	ENST00000327987.4	-	11	2109	c.1858G>T	c.(1858-1860)Gcc>Tcc	p.A620S	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	620					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGCCCTCACCTGTCCTCTCA	0.567																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.e11+1		immunoglobulin superfamily, DCC subclass, member 3							156.0	127.0	137.0					15																	65622631		2201	4299	6500	SO:0001630	splice_region_variant	9543							g.chr15:65622631C>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1858+1G>T	15.37:g.65622631C>A							p.A620_splice	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			11	2109	-			620					O95215	Splice_Site	SNP	ENST00000327987.4	37	c.1858_splice	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000125	0.54147	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.65916	-0.18	5.26	4.31	0.51392	.	0.563532	0.17466	N	0.173257	T	0.47637	0.1456	L	0.27053	0.805	0.35470	D	0.797286	B	0.17465	0.022	B	0.10450	0.005	T	0.49844	-0.8896	9	.	.	.	-12.4775	12.4354	0.55596	0.0:0.9144:0.0:0.0856	.	620	Q8IVU1	IGDC3_HUMAN	S	620;483	ENSP00000332773:A620S	.	A	-	1	0	IGDCC3	63409684	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.590000	0.61013	1.132000	0.42129	0.655000	0.94253	GCC		0.567	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884	Missense_Mutation	9	78	1	0	3.09899e-07	1	3.24445e-07	9	78				
KCNC1	3746	broad.mit.edu	37	11	17793341	17793341	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:17793341C>T	ENST00000379472.3	+	2	730	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	KCNC1_ENST00000265969.6_Missense_Mutation_p.R234C	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	234					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.R234C(1)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CACGCAAGTGCGCTACTACCG	0.582																																						ENST00000379472.3																			1	Substitution - Missense(1)	p.R234C(1)	upper_aerodigestive_tract(1)	breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(700-702)Cgc>Tgc		potassium voltage-gated channel, Shaw-related subfamily, member 1							263.0	211.0	229.0					11																	17793341		2200	4293	6493	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793341C>T	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.700C>T	11.37:g.17793341C>T	ENSP00000368785:p.Arg234Cys					KCNC1_ENST00000265969.6_Missense_Mutation_p.R234C	p.R234C	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			2	730	+			234					K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.700C>T	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307031	0.40795	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97232	-4.3;-4.3	4.7	4.7	0.59300	.	3.542160	0.01208	N	0.007765	D	0.97504	0.9183	L	0.50333	1.59	0.58432	D	0.999998	D;D	0.76494	0.981;0.999	P;P	0.56216	0.586;0.794	D	0.90736	0.4646	10	0.38643	T	0.18	.	12.7317	0.57201	0.1644:0.8356:0.0:0.0	.	234;234	Q3KNS8;P48547	.;KCNC1_HUMAN	C	234	ENSP00000265969:R234C;ENSP00000368785:R234C	ENSP00000265969:R234C	R	+	1	0	KCNC1	17749917	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	3.141000	0.50593	2.166000	0.68216	0.505000	0.49811	CGC		0.582	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		23	83	0	0	0	1	0	23	83				
SHANK2	22941	broad.mit.edu	37	11	70331617	70331617	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:70331617G>A	ENST00000423696.2	-	15	3680	c.3644C>T	c.(3643-3645)gCc>gTc	p.A1215V	SHANK2_ENST00000338508.4_Missense_Mutation_p.A1595V|SHANK2_ENST00000409161.1_Missense_Mutation_p.A998V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A999V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1215					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGAACCTTGGCCATCCCAGG	0.577																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(4783-4785)gCc>gTc		SH3 and multiple ankyrin repeat domains 2							59.0	65.0	63.0					11																	70331617		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70331617G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3644C>T	11.37:g.70331617G>A	ENSP00000394536:p.Ala1215Val					SHANK2_ENST00000409161.1_Missense_Mutation_p.A998V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A999V|SHANK2_ENST00000423696.2_Missense_Mutation_p.A1215V	p.A1595V			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	4783	-			1215					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.4784C>T		.	.	.	.	.	.	.	.	.	.	G	11.39	1.626095	0.28978	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.40225	2.32;2.32;3.04;1.04;2.45;2.45	5.42	2.57	0.30868	.	0.606682	0.19382	N	0.115634	T	0.32763	0.0840	L	0.44542	1.39	0.22401	N	0.999136	B;B;B	0.16802	0.011;0.014;0.019	B;B;B	0.18871	0.007;0.023;0.016	T	0.19943	-1.0290	10	0.23302	T	0.38	.	10.7066	0.45958	0.2056:0.0:0.7944:0.0	.	1215;1594;999	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	V	999;998;873;1595;1215;1233;1218	ENSP00000399423:A999V;ENSP00000386491:A998V;ENSP00000402944:A873V;ENSP00000345193:A1595V;ENSP00000394536:A1215V;ENSP00000294018:A1218V	ENSP00000294018:A1218V	A	-	2	0	SHANK2	70009265	0.759000	0.28416	0.000000	0.03702	0.997000	0.91878	4.152000	0.58111	0.286000	0.22352	0.655000	0.94253	GCC		0.577	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		4	55	0	0	0	1	0	4	55				
OR4E2	26686	broad.mit.edu	37	14	22133362	22133362	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:22133362G>A	ENST00000408935.1	+	1	66	c.66G>A	c.(64-66)gtG>gtA	p.V22V		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		ATAACCGGGTGCTGGAAATGC	0.418																																						ENST00000408935.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(64-66)gtG>gtA		olfactory receptor, family 4, subfamily E, member 2							162.0	150.0	154.0					14																	22133362		1916	4135	6051	SO:0001819	synonymous_variant	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22133362G>A		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.66G>A	14.37:g.22133362G>A							p.V22V	NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	66	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	22					Q6IET6|Q96R62	Silent	SNP	ENST00000408935.1	37	c.66G>A	CCDS41916.1																																																																																				0.418	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			37	69	0	0	0	1	0	37	69				
NIM1K	167359	broad.mit.edu	37	5	43280399	43280399	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:43280399C>T	ENST00000512796.1	+	4	2378	c.879C>T	c.(877-879)caC>caT	p.H293H	NIM1_ENST00000326035.2_Silent_p.H293H			Q8IY84	NIM1_HUMAN		293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										TACCGCCGCACGTGTCAGAGC	0.532																																						ENST00000512796.1																			0											c.(877-879)caC>caT									82.0	71.0	75.0					5																	43280399		2203	4300	6503	SO:0001819	synonymous_variant	0						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:43280399C>T																												ENST00000512796.1:c.879C>T	5.37:g.43280399C>T						NIM1_ENST00000326035.2_Silent_p.H293H	p.H293H			Q8IY84	NIM1_HUMAN			4	2378	+			293			Protein kinase.		B3KVM1	Silent	SNP	ENST00000512796.1	37	c.879C>T	CCDS3943.1																																																																																				0.532	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1			7	61	0	0	0	1	0	7	61				
VILL	50853	broad.mit.edu	37	3	38038579	38038579	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:38038579C>A	ENST00000283713.6	+	6	728	c.462C>A	c.(460-462)tcC>tcA	p.S154S	VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Silent_p.S154S			O15195	VILL_HUMAN	villin-like	154					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGAGCTCTCCTGGAACAGCT	0.542											OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(460-462)tcC>tcA		villin-like							123.0	114.0	117.0					3																	38038579		2203	4300	6503	SO:0001819	synonymous_variant	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38038579C>A		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.462C>A	3.37:g.38038579C>A			OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Silent_p.S154S	p.S154S			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	728	+			154					A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	c.462C>A	CCDS2670.2																																																																																				0.542	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		6	71	1	0	2.0095e-06	1	2.09102e-06	6	71				
C3orf70	285382	broad.mit.edu	37	3	184801249	184801249	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:184801249G>A	ENST00000335012.2	-	2	489	c.299C>T	c.(298-300)tCg>tTg	p.S100L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	100										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						TTCGGTGAGCGAGACTGAGAT	0.483																																						ENST00000335012.2																			0				breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						c.(298-300)tCg>tTg		chromosome 3 open reading frame 70							78.0	80.0	79.0					3																	184801249		2203	4300	6503	SO:0001583	missense	285382							g.chr3:184801249G>A		CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.299C>T	3.37:g.184801249G>A	ENSP00000334974:p.Ser100Leu						p.S100L	NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN			2	489	-			100					B2RNY2|B9EH83	Missense_Mutation	SNP	ENST00000335012.2	37	c.299C>T	CCDS33900.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881598	0.91740	.	.	ENSG00000187068	ENST00000335012	.	.	.	5.79	5.79	0.91817	.	0.124759	0.56097	D	0.000027	T	0.57315	0.2045	L	0.29908	0.895	0.80722	D	1	D	0.62365	0.991	P	0.48901	0.594	T	0.61232	-0.7104	9	0.72032	D	0.01	.	19.6504	0.95798	0.0:0.0:1.0:0.0	.	100	A6NLC5	CC070_HUMAN	L	100	.	ENSP00000334974:S100L	S	-	2	0	C3orf70	186283943	1.000000	0.71417	0.790000	0.31976	0.641000	0.38312	9.476000	0.97823	2.733000	0.93635	0.655000	0.94253	TCG		0.483	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1	NM_001025266		7	83	0	0	0	1	0	7	83				
ALX3	257	broad.mit.edu	37	1	110603475	110603475	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:110603475G>A	ENST00000369792.4	-	4	999	c.912C>T	c.(910-912)ccC>ccT	p.P304P	RP4-773N10.4_ENST00000596959.1_RNA|RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	304					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCAGGGTGGGGGGAAAGCCAT	0.617																																						ENST00000369792.4																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(910-912)ccC>ccT		ALX homeobox 3							34.0	36.0	35.0					1																	110603475		2203	4300	6503	SO:0001819	synonymous_variant	257					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:110603475G>A	AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"""Homeoboxes / PRD class"""	449	protein-coding gene	gene with protein product		606014	"""aristaless-like homeobox 3"", ""frontonasal dysplasia"""	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.912C>T	1.37:g.110603475G>A						RP4-773N10.4_ENST00000554749.1_RNA	p.P304P	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)	4	999	-		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	304					O95075|Q5T8M4	Silent	SNP	ENST00000369792.4	37	c.912C>T	CCDS819.1																																																																																				0.617	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492		6	31	0	0	0	1	0	6	31				
MNS1	55329	broad.mit.edu	37	15	56735681	56735681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:56735681G>A	ENST00000260453.3	-	7	1122	c.958C>T	c.(958-960)Cga>Tga	p.R320*	TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	320	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		AATTCTTGTCGCACTTGTTCC	0.294																																						ENST00000260453.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(958-960)Cga>Tga		meiosis-specific nuclear structural 1							132.0	124.0	127.0					15																	56735681		2192	4291	6483	SO:0001587	stop_gained	55329				meiosis			g.chr15:56735681G>A	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.958C>T	15.37:g.56735681G>A	ENSP00000260453:p.Arg320*					TEX9_ENST00000537232.1_Intron|TEX9_ENST00000352903.2_Intron	p.R320*	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	7	1122	-			320			Glu-rich.		Q8IYT6|Q9NUP4	Nonsense_Mutation	SNP	ENST00000260453.3	37	c.958C>T	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	G	37	6.299496	0.97453	.	.	ENSG00000138587	ENST00000260453	.	.	.	5.76	2.48	0.30137	.	0.175195	0.51477	D	0.000092	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.208	14.4127	0.67124	0.0:0.0:0.6097:0.3903	.	.	.	.	X	320	.	ENSP00000260453:R320X	R	-	1	2	MNS1	54522973	0.111000	0.22076	0.997000	0.53966	0.993000	0.82548	1.464000	0.35288	0.731000	0.32448	0.637000	0.83480	CGA		0.294	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		7	27	0	0	0	1	0	7	27				
PKD1	5310	broad.mit.edu	37	16	2143019	2143019	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:2143019C>T	ENST00000262304.4	-	38	11300	c.11092G>A	c.(11092-11094)Gcc>Acc	p.A3698T	MIR1225_ENST00000408729.1_RNA|RP11-304L19.3_ENST00000565937.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.A3697T|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3698					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGACGGTAGGCGTGCCCATGG	0.642																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(11092-11094)Gcc>Acc		polycystic kidney disease 1 (autosomal dominant)							108.0	108.0	108.0					16																	2143019		2198	4299	6497	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2143019C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.11092G>A	16.37:g.2143019C>T	ENSP00000262304:p.Ala3698Thr					RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.A3697T	p.A3698T	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			38	11300	-			3698					Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.11092G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117501	0.37339	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.37752	1.18;1.18	3.46	3.46	0.39613	.	0.245550	0.40908	D	0.000985	T	0.47911	0.1471	L	0.41236	1.265	0.34943	D	0.750538	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.922	T	0.60193	-0.7311	10	0.59425	D	0.04	.	11.2706	0.49136	0.0:0.906:0.0:0.094	.	3697;3698	P98161-3;P98161	.;PKD1_HUMAN	T	3698;3697;3032	ENSP00000262304:A3698T;ENSP00000399501:A3697T	ENSP00000262304:A3698T	A	-	1	0	PKD1	2083020	0.997000	0.39634	0.903000	0.35520	0.535000	0.34838	3.984000	0.56923	1.954000	0.56735	0.561000	0.74099	GCC		0.642	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			11	73	0	0	0	1	0	11	73				
DHX57	90957	broad.mit.edu	37	2	39095333	39095333	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:39095333C>T	ENST00000295373.6	-	2	341	c.215G>A	c.(214-216)cGc>cAc	p.R72H	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	72							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CCTGGAAGGGCGCCTTGATTC	0.458																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(214-216)cGc>cAc		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							106.0	102.0	103.0					2																	39095333		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095333C>T	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.215G>A	2.37:g.39095333C>T	ENSP00000295373:p.Arg72His						p.R72H	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	341	-		all_hematologic(82;0.248)	72					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.215G>A	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594807	0.28445	.	.	ENSG00000163214	ENST00000295373	T	0.02916	4.11	4.24	-3.58	0.04597	.	0.575699	0.14206	N	0.334379	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.022;0.001	B;B	0.14578	0.011;0.001	T	0.43956	-0.9359	10	0.31617	T	0.26	.	1.9332	0.03331	0.1511:0.3796:0.1035:0.3658	.	72;72	Q6P158-2;Q6P158	.;DHX57_HUMAN	H	72	ENSP00000295373:R72H	ENSP00000295373:R72H	R	-	2	0	DHX57	38948837	0.000000	0.05858	0.054000	0.19295	0.885000	0.51271	0.016000	0.13377	-0.484000	0.06763	-0.310000	0.09108	CGC		0.458	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		7	57	0	0	0	1	0	7	57				
GALNT3	2591	broad.mit.edu	37	2	166621492	166621492	+	Missense_Mutation	SNP	G	G	A	rs201078015		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:166621492G>A	ENST00000392701.3	-	3	1365	c.590C>T	c.(589-591)gCg>gTg	p.A197V		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	197	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						CGTGGACCACGCTTCATTATG	0.423																																						ENST00000392701.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.(589-591)gCg>gTg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)							126.0	117.0	120.0					2																	166621492		2203	4300	6503	SO:0001583	missense	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166621492G>A		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.590C>T	2.37:g.166621492G>A	ENSP00000376465:p.Ala197Val						p.A197V	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN			3	1365	-			197			Catalytic subdomain A.		Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	c.590C>T	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385837	0.61956	.	.	ENSG00000115339	ENST00000392701;ENST00000412248	T;T	0.62105	0.05;0.05	5.8	5.8	0.92144	Glycosyl transferase, family 2 (1);	0.052929	0.85682	D	0.000000	D	0.82737	0.5102	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.84915	0.0850	10	0.87932	D	0	.	20.0463	0.97608	0.0:0.0:1.0:0.0	.	197	Q14435	GALT3_HUMAN	V	197	ENSP00000376465:A197V;ENSP00000412643:A197V	ENSP00000376465:A197V	A	-	2	0	GALNT3	166329738	1.000000	0.71417	0.967000	0.41034	0.027000	0.11550	7.957000	0.87870	2.729000	0.93468	0.561000	0.74099	GCG		0.423	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		17	26	0	0	0	1	0	17	26				
SWAP70	23075	broad.mit.edu	37	11	9749627	9749627	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:9749627C>T	ENST00000318950.6	+	5	773	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	SWAP70_ENST00000447399.2_Missense_Mutation_p.R166W	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	224	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GGGCCACAGACGGAAAAACTG	0.348																																						ENST00000318950.6																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11						c.(670-672)Cgg>Tgg		SWAP switching B-cell complex 70kDa subunit							106.0	104.0	104.0					11																	9749627		2201	4294	6495	SO:0001583	missense	23075					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding	g.chr11:9749627C>T	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.670C>T	11.37:g.9749627C>T	ENSP00000315630:p.Arg224Trp					SWAP70_ENST00000447399.2_Missense_Mutation_p.R166W	p.R224W	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN		all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)	5	773	+			224			PH.		D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	ENST00000318950.6	37	c.670C>T	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221408	0.79464	.	.	ENSG00000133789	ENST00000447399;ENST00000318950;ENST00000534662	T;T;T	0.13307	2.6;2.6;2.6	5.97	3.93	0.45458	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.043429	0.85682	D	0.000000	T	0.41627	0.1167	M	0.84511	2.7	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.962;0.996;0.985	T	0.45101	-0.9284	10	0.87932	D	0	-22.1796	15.6172	0.76775	0.2664:0.7336:0.0:0.0	.	166;224;166	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	W	166;224;75	ENSP00000399056:R166W;ENSP00000315630:R224W;ENSP00000435587:R75W	ENSP00000315630:R224W	R	+	1	2	SWAP70	9706203	0.998000	0.40836	0.988000	0.46212	0.995000	0.86356	1.387000	0.34430	2.838000	0.97847	0.561000	0.74099	CGG		0.348	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		5	55	0	0	0	1	0	5	55				
DUSP1	1843	broad.mit.edu	37	5	172195842	172195842	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:172195842C>T	ENST00000239223.3	-	4	1269	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	343	Tyrosine-protein phosphatase.				cellular response to hormone stimulus (GO:0032870)|endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of meiotic cell cycle (GO:0051447)|peptidyl-threonine dephosphorylation (GO:0035970)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|protein dephosphorylation (GO:0006470)|regulation of apoptotic process (GO:0042981)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to light stimulus (GO:0009416)|response to oxidative stress (GO:0006979)|response to retinoic acid (GO:0032526)|response to testosterone (GO:0033574)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		GGGATGGAGACGGGGAAGTTG	0.642																																						ENST00000239223.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1027-1029)Gtc>Atc		dual specificity phosphatase 1							111.0	106.0	107.0					5																	172195842		2203	4300	6503	SO:0001583	missense	1843				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr5:172195842C>T	X68277	CCDS4380.1	5q35.1	2011-06-09			ENSG00000120129	ENSG00000120129		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3064	protein-coding gene	gene with protein product		600714		PTPN10		1406996, 7806236	Standard	NM_004417		Approved	HVH1, CL100, MKP-1	uc003mbv.2	P28562	OTTHUMG00000130523	ENST00000239223.3:c.1027G>A	5.37:g.172195842C>T	ENSP00000239223:p.Val343Ile					RP11-779O18.3_ENST00000523005.1_RNA	p.V343I	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)	4	1269	-	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	343			Tyrosine-protein phosphatase.		D3DQL9|Q2V508	Missense_Mutation	SNP	ENST00000239223.3	37	c.1027G>A	CCDS4380.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971562	0.92919	.	.	ENSG00000120129	ENST00000239223;ENST00000457103;ENST00000434080	T	0.02301	4.35	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.06554	0.0168	L	0.44542	1.39	0.58432	D	0.999998	D;D	0.71674	0.996;0.998	P;P	0.54060	0.606;0.741	T	0.33904	-0.9850	10	0.51188	T	0.08	.	18.8778	0.92345	0.0:1.0:0.0:0.0	.	343;300	P28562;B4DNT2	DUS1_HUMAN;.	I	343;316;278	ENSP00000239223:V343I	ENSP00000239223:V343I	V	-	1	0	DUSP1	172128448	1.000000	0.71417	0.968000	0.41197	0.975000	0.68041	7.776000	0.85560	2.522000	0.85027	0.655000	0.94253	GTC		0.642	DUSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252943.3	NM_004417		7	60	0	0	0	1	0	7	60				
SBNO2	22904	broad.mit.edu	37	19	1106407	1106407	+	IGR	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:1106407C>T	ENST00000361757.3	-	0	4922				GPX4_ENST00000354171.8_Silent_p.I170I|GPX4_ENST00000589115.1_Missense_Mutation_p.S162L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)						bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTCCTCATCGACAAGAACG	0.652																																						ENST00000589115.1																			0				endometrium(1)|kidney(2)	3						c.(484-486)tCg>tTg		glutathione peroxidase 4	Glutathione(DB00143)						56.0	64.0	61.0					19																	1106407		2035	4185	6220	SO:0001628	intergenic_variant	2879				multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity	g.chr19:1106407C>T	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9			19.37:g.1106407C>T						GPX4_ENST00000354171.8_Silent_p.I170I	p.S162L			P36969	GPX4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	521	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	0					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.485C>T	CCDS45894.1																																																																																				0.652	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		10	36	0	0	0	1	0	10	36				
ZCCHC2	54877	broad.mit.edu	37	18	60241837	60241837	+	Silent	SNP	C	C	T	rs369915168		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:60241837C>T	ENST00000269499.5	+	13	2941	c.2523C>T	c.(2521-2523)atC>atT	p.I841I	ZCCHC2_ENST00000586834.1_Silent_p.I520I	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	841						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCCTGAGCATCGCATCACCAA	0.507																																						ENST00000269499.5																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(2521-2523)atC>atT		zinc finger, CCHC domain containing 2		C		1,4145		0,1,2072	141.0	142.0	141.0		2523	3.6	1.0	18		141	6,8416		0,6,4205	no	coding-synonymous	ZCCHC2	NM_017742.4		0,7,6277	TT,TC,CC		0.0712,0.0241,0.0557		841/1179	60241837	7,12561	2073	4211	6284	SO:0001819	synonymous_variant	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60241837C>T	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2523C>T	18.37:g.60241837C>T						ZCCHC2_ENST00000586834.1_Silent_p.I520I	p.I841I	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN			13	2941	+			841					B2RPG6|Q8N3S1|Q9NXF6	Silent	SNP	ENST00000269499.5	37	c.2523C>T	CCDS45880.1																																																																																				0.507	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		25	47	0	0	0	1	0	25	47				
TTF1	7270	broad.mit.edu	37	9	135277260	135277260	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:135277260G>A	ENST00000334270.2	-	2	988	c.949C>T	c.(949-951)Cat>Tat	p.H317Y		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	317					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GTTTCACCATGCAGGCCCACA	0.493																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(949-951)Cat>Tat		transcription termination factor, RNA polymerase I							119.0	115.0	116.0					9																	135277260		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277260G>A	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.949C>T	9.37:g.135277260G>A	ENSP00000333920:p.His317Tyr						p.H317Y	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	988	-		Myeloproliferative disorder(178;0.204)	317					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.949C>T	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	3.968	-0.008893	0.07727	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.10099	2.91	1.72	-3.44	0.04796	.	.	.	.	.	T	0.04770	0.0129	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36696	-0.9737	9	0.59425	D	0.04	.	5.9923	0.19474	0.0:0.2602:0.5811:0.1587	.	317	Q15361	TTF1_HUMAN	Y	317	ENSP00000333920:H317Y	ENSP00000245588:H317Y	H	-	1	0	TTF1	134267081	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.440000	0.21592	-1.400000	0.02061	-0.499000	0.04595	CAT		0.493	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		39	85	0	0	0	1	0	39	85				
RNF43	54894	broad.mit.edu	37	17	56435189	56435189	+	Nonsense_Mutation	SNP	G	G	A	rs371553160		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:56435189G>A	ENST00000584437.1	-	8	3903	c.1948C>T	c.(1948-1950)Cga>Tga	p.R650*	RNF43_ENST00000581868.1_Nonsense_Mutation_p.R523*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R650*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.R523*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R609*|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R609*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.R650*			Q68DV7	RNF43_HUMAN	ring finger protein 43	650	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R650*(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTGGGTGTCGGGCAGAGAGG	0.637																																						ENST00000584437.1																			1	Substitution - Nonsense(1)	p.R650*(1)	central_nervous_system(1)	NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1948-1950)Cga>Tga		ring finger protein 43		G	stop/ARG	0,4400		0,0,2200	68.0	79.0	75.0		1948	3.7	0.8	17		75	1,8587	1.2+/-3.3	0,1,4293	no	stop-gained	RNF43	NM_017763.4		0,1,6493	AA,AG,GG		0.0116,0.0,0.0077		650/784	56435189	1,12987	2200	4294	6494	SO:0001587	stop_gained	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435189G>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1948C>T	17.37:g.56435189G>A	ENSP00000463069:p.Arg650*					RNF43_ENST00000407977.2_Nonsense_Mutation_p.R650*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R650*|RNF43_ENST00000581868.1_Nonsense_Mutation_p.R523*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R609*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.R523*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R609*|BZRAP1-AS1_ENST00000583841.1_RNA	p.R650*			Q68DV7	RNF43_HUMAN			8	3903	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		650			Pro-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Nonsense_Mutation	SNP	ENST00000584437.1	37	c.1948C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	41	8.740716	0.98935	0.0	1.16E-4	ENSG00000108375	ENST00000407977;ENST00000500597	.	.	.	4.66	3.66	0.41972	.	0.405180	0.18473	N	0.140168	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3214	9.5781	0.39470	0.0:0.0:0.7814:0.2186	.	.	.	.	X	650;609	.	ENSP00000385328:R650X	R	-	1	2	RNF43	53790188	0.998000	0.40836	0.807000	0.32361	0.427000	0.31564	3.077000	0.50089	1.117000	0.41842	0.205000	0.17691	CGA		0.637	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		32	72	0	0	0	1	0	32	72				
LRRC41	10489	broad.mit.edu	37	1	46751327	46751327	+	Missense_Mutation	SNP	C	C	T	rs185591715		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:46751327C>T	ENST00000343304.6	-	4	1487	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	401					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTGACGGGTGCGAGCACCCTT	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		19639	0.001		0.0	False		,,,				2504	0.0					ENST00000343304.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(1201-1203)cGc>cAc		leucine rich repeat containing 41		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	83.0	86.0	85.0		1202	5.5	1.0	1		85	0,8600		0,0,4300	no	missense	LRRC41	NM_006369.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	401/813	46751327	1,13005	2203	4300	6503	SO:0001583	missense	10489							g.chr1:46751327C>T	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1202G>A	1.37:g.46751327C>T	ENSP00000343298:p.Arg401His					LRRC41_ENST00000472710.1_5'UTR	p.R401H	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			4	1487	-	Acute lymphoblastic leukemia(166;0.155)		401					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.1202G>A	CCDS533.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	13.04	2.119157	0.37436	2.27E-4	0.0	ENSG00000132128	ENST00000343304;ENST00000371972	T	0.44083	0.93	5.51	5.51	0.81932	.	0.374124	0.27549	N	0.018867	T	0.41190	0.1148	N	0.03608	-0.345	0.32250	N	0.571594	D;D;D	0.89917	0.999;1.0;0.999	P;D;P	0.71414	0.872;0.973;0.872	T	0.51957	-0.8639	10	0.27082	T	0.32	-1.1096	17.6666	0.88205	0.0:1.0:0.0:0.0	.	401;379;401	Q15345-3;E9PE58;Q15345	.;.;LRC41_HUMAN	H	401;379	ENSP00000343298:R401H	ENSP00000343298:R401H	R	-	2	0	LRRC41	46523914	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	4.698000	0.61789	2.611000	0.88343	0.450000	0.29827	CGC		0.547	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		32	58	0	0	0	1	0	32	58				
PLAT	5327	broad.mit.edu	37	8	42046568	42046568	+	Missense_Mutation	SNP	G	G	A	rs375926300		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:42046568G>A	ENST00000220809.4	-	4	393	c.137C>T	c.(136-138)aCg>aTg	p.T46M	PLAT_ENST00000524009.1_Missense_Mutation_p.T46M|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000429710.2_Missense_Mutation_p.T46M|PLAT_ENST00000519510.1_Missense_Mutation_p.T46M|PLAT_ENST00000429089.2_Missense_Mutation_p.T46M|PLAT_ENST00000270189.6_Missense_Mutation_p.T46M	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	46	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.|Important for binding to annexin A2.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	TATCATCTGCGTTTTTTCATC	0.493																																						ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(136-138)aCg>aTg		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	G	MET/THR,	0,4406		0,0,2203	151.0	146.0	148.0		137,	4.5	0.0	8		148	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	PLAT	NM_000930.3,NM_033011.2	81,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	46/563,	42046568	1,13005	2203	4300	6503	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42046568G>A		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.137C>T	8.37:g.42046568G>A	ENSP00000220809:p.Thr46Met					PLAT_ENST00000524009.1_Missense_Mutation_p.T46M|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000519510.1_Missense_Mutation_p.T46M|PLAT_ENST00000270189.6_Missense_Mutation_p.T46M|PLAT_ENST00000429089.2_Missense_Mutation_p.T46M|PLAT_ENST00000429710.2_Missense_Mutation_p.T46M	p.T46M	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		4	393	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	46			Fibronectin type-I.|Important for binding to annexin A2.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.137C>T	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133043	0.37630	0.0	1.16E-4	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000519510;ENST00000429710;ENST00000524009;ENST00000520523;ENST00000521694	T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.35	4.47	0.54385	Fibronectin, type I (4);Complement control module (1);	0.119220	0.56097	D	0.000027	T	0.72145	0.3424	M	0.80616	2.505	0.27420	N	0.954306	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.994	T	0.67979	-0.5530	10	0.72032	D	0.01	.	12.2973	0.54854	0.0789:0.0:0.9211:0.0	.	46;46;46;46	B4DNJ1;B4DN26;B4DV92;P00750	.;.;.;TPA_HUMAN	M	46	ENSP00000270189:T46M;ENSP00000392045:T46M;ENSP00000220809:T46M;ENSP00000428886:T46M;ENSP00000407861:T46M;ENSP00000429401:T46M;ENSP00000428797:T46M;ENSP00000429801:T46M	ENSP00000220809:T46M	T	-	2	0	PLAT	42165725	0.998000	0.40836	0.016000	0.15963	0.097000	0.18754	4.002000	0.57053	1.256000	0.44068	0.650000	0.86243	ACG		0.493	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		7	130	0	0	0	1	0	7	130				
RFFL	117584	broad.mit.edu	37	17	33344575	33344575	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:33344575G>A	ENST00000315249.7	-	4	864	c.642C>T	c.(640-642)agC>agT	p.S214S	RFFL_ENST00000394597.2_Silent_p.S214S|RFFL_ENST00000268850.7_Intron|RFFL_ENST00000413582.2_Silent_p.S214S|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000378516.2_Silent_p.S214S|RFFL_ENST00000415395.2_Silent_p.S214S|RFFL_ENST00000584655.1_Intron|RFFL_ENST00000447669.2_Silent_p.S214S					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTCTGGCCACGCTCTCCAGGT	0.527																																						ENST00000315249.7																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(640-642)agC>agT		ring finger and FYVE-like domain containing E3 ubiquitin protein ligase							69.0	59.0	62.0					17																	33344575		2203	4300	6503	SO:0001819	synonymous_variant	117584				apoptosis	membrane	ligase activity|zinc ion binding	g.chr17:33344575G>A	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.642C>T	17.37:g.33344575G>A						RFFL_ENST00000584655.1_Intron|RFFL_ENST00000415395.2_Silent_p.S214S|RFFL_ENST00000413582.2_Silent_p.S214S|RFFL_ENST00000394597.2_Silent_p.S214S|RFFL_ENST00000378516.2_Silent_p.S214S|RFFL_ENST00000268850.7_Intron|RFFL_ENST00000447669.2_Silent_p.S214S|RAD51L3-RFFL_ENST00000593039.1_Intron	p.S214S			Q8WZ73	RFFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	4	864	-		Ovarian(249;0.17)	214						Silent	SNP	ENST00000315249.7	37	c.642C>T	CCDS11286.1																																																																																				0.527	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		4	7	0	0	0	1	0	4	7				
PRPS1L1	221823	broad.mit.edu	37	7	18066568	18066568	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:18066568T>C	ENST00000506618.2	-	1	918	c.838A>G	c.(838-840)Aag>Gag	p.K280E		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	280					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TGCTTCATCTTCTCATCTTGA	0.428																																						ENST00000506618.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(838-840)Aag>Gag		phosphoribosyl pyrophosphate synthetase 1-like 1							191.0	190.0	191.0					7																	18066568		2201	4300	6501	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18066568T>C	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.838A>G	7.37:g.18066568T>C	ENSP00000424595:p.Lys280Glu						p.K280E	NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN			1	918	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		280					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.838A>G	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.960494	0.34565	.	.	ENSG00000229937	ENST00000506618	D	0.91011	-2.77	4.44	3.28	0.37604	.	.	.	.	.	T	0.80534	0.4641	N	0.20845	0.615	.	.	.	B	0.20671	0.047	B	0.21917	0.037	T	0.73007	-0.4118	8	0.10636	T	0.68	.	8.2583	0.31769	0.0:0.0964:0.0:0.9036	.	280	P21108	PRPS3_HUMAN	E	280	ENSP00000424595:K280E	ENSP00000424595:K280E	K	-	1	0	PRPS1L1	18033093	1.000000	0.71417	0.980000	0.43619	0.798000	0.45092	5.558000	0.67319	0.857000	0.35407	0.528000	0.53228	AAG		0.428	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		46	79	0	0	0	1	0	46	79				
BNIP1	662	broad.mit.edu	37	5	172590779	172590779	+	Missense_Mutation	SNP	C	C	T	rs571755895		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:172590779C>T	ENST00000351486.5	+	6	573	c.542C>T	c.(541-543)tCg>tTg	p.S181L	BNIP1_ENST00000352523.6_Missense_Mutation_p.S190L|BNIP1_ENST00000393770.4_Missense_Mutation_p.S147L|BNIP1_ENST00000231668.9_Missense_Mutation_p.S224L	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	181					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAGTCCATGTCGGGCACCATC	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		18258	0.0		0.0	False		,,,				2504	0.001					ENST00000231668.9																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.(670-672)tCg>tTg		BCL2/adenovirus E1B 19kDa interacting protein 1							85.0	82.0	83.0					5																	172590779		2203	4300	6503	SO:0001583	missense	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172590779C>T	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.542C>T	5.37:g.172590779C>T	ENSP00000239215:p.Ser181Leu					BNIP1_ENST00000351486.5_Missense_Mutation_p.S181L|BNIP1_ENST00000352523.6_Missense_Mutation_p.S190L|BNIP1_ENST00000393770.4_Missense_Mutation_p.S147L	p.S224L	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		7	775	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	181					D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Missense_Mutation	SNP	ENST00000351486.5	37	c.671C>T	CCDS4384.1	.	.	.	.	.	.	.	.	.	.	C	35	5.516373	0.96402	.	.	ENSG00000113734	ENST00000231668;ENST00000351486;ENST00000352523;ENST00000393770	T;T;T;T	0.48201	0.82;0.84;0.82;0.84	5.73	5.73	0.89815	.	0.062472	0.64402	D	0.000003	T	0.58566	0.2131	M	0.62723	1.935	0.80722	D	1	P;D;D;D	0.60575	0.92;0.978;0.988;0.978	B;P;P;P	0.50590	0.321;0.526;0.645;0.562	T	0.57142	-0.7862	10	0.42905	T	0.14	.	19.9084	0.97016	0.0:1.0:0.0:0.0	.	147;190;181;224	Q12981-2;Q12981-3;Q12981;Q12981-1	.;.;SEC20_HUMAN;.	L	224;181;190;147	ENSP00000231668:S224L;ENSP00000239215:S181L;ENSP00000239214:S190L;ENSP00000377365:S147L	ENSP00000231668:S224L	S	+	2	0	BNIP1	172523385	1.000000	0.71417	0.969000	0.41365	0.780000	0.44128	7.487000	0.81328	2.711000	0.92665	0.650000	0.86243	TCG		0.498	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		5	57	0	0	0	1	0	5	57				
LRRN3	54674	broad.mit.edu	37	7	110763518	110763518	+	Silent	SNP	C	C	T	rs146797927	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:110763518C>T	ENST00000422987.3	+	2	1521	c.690C>T	c.(688-690)aaC>aaT	p.N230N	IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000451085.1_Silent_p.N230N|LRRN3_ENST00000308478.5_Silent_p.N230N|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	230					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N230N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TACCAGATAACGCCTTGGTTG	0.358													T|||	2	0.000399361	0.0	0.0	5008	,	,		18436	0.0		0.0	False		,,,				2504	0.002					ENST00000451085.1																			1	Substitution - coding silent(1)	p.N230N(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(688-690)aaC>aaT		leucine rich repeat neuronal 3		T	,,,	0,4406		0,0,2203	68.0	70.0	69.0		690,690,690,	0.8	1.0	7	dbSNP_134	69	2,8596	816.0+/-406.9	0,2,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,intron	LRRN3,IMMP2L	NM_001099658.1,NM_001099660.1,NM_018334.4,NM_032549.3	,,,	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	,,,	230/709,230/709,230/709,	110763518	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	54674					integral to membrane		g.chr7:110763518C>T	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.690C>T	7.37:g.110763518C>T						LRRN3_ENST00000308478.5_Silent_p.N230N|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000422987.3_Silent_p.N230N|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000405709.2_Intron	p.N230N	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1736	+			230					O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	37	c.690C>T	CCDS5754.1																																																																																				0.358	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		7	66	0	0	0	1	0	7	66				
MAPK1	5594	broad.mit.edu	37	22	22153339	22153339	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:22153339G>A	ENST00000215832.6	-	4	759	c.571C>T	c.(571-573)Cgt>Tgt	p.R191C	MAPK1_ENST00000398822.3_Missense_Mutation_p.R191C|MAPK1_ENST00000544786.1_Missense_Mutation_p.R191C	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	CTGTACCAACGTGTGGCCACA	0.428																																						ENST00000215832.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(571-573)Cgt>Tgt		mitogen-activated protein kinase 1	Arsenic trioxide(DB01169)						99.0	87.0	91.0					22																	22153339		2203	4300	6503	SO:0001583	missense	5594				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|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|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr22:22153339G>A	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.571C>T	22.37:g.22153339G>A	ENSP00000215832:p.Arg191Cys					MAPK1_ENST00000398822.3_Missense_Mutation_p.R191C|MAPK1_ENST00000544786.1_Missense_Mutation_p.R191C	p.R191C	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN		READ - Rectum adenocarcinoma(21;0.0689)	4	759	-	Colorectal(54;0.105)	all_lung(157;3.89e-05)	191			Protein kinase.		A8CZ64	Missense_Mutation	SNP	ENST00000215832.6	37	c.571C>T	CCDS13795.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248120	0.95305	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.49720	0.77;0.77;0.77	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72162	0.3426	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75382	-0.3337	10	0.87932	D	0	.	19.1626	0.93539	0.0:0.0:1.0:0.0	.	191;191	A8CZ64;P28482	.;MK01_HUMAN	C	191;179;191;191	ENSP00000215832:R191C;ENSP00000381803:R191C;ENSP00000440842:R191C	ENSP00000215832:R191C	R	-	1	0	MAPK1	20483339	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	9.657000	0.98554	2.768000	0.95171	0.561000	0.74099	CGT		0.428	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2			12	38	0	0	0	1	0	12	38				
PTGIR	5739	broad.mit.edu	37	19	47127100	47127100	+	Missense_Mutation	SNP	G	G	A	rs201125347		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:47127100G>A	ENST00000291294.2	-	2	516	c.383C>T	c.(382-384)gCg>gTg	p.A128V	PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.A128V|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000594275.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	128					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	GTCCAGCTGCGCGTAGAGGTA	0.692																																						ENST00000291294.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13						c.(382-384)gCg>gTg		prostaglandin I2 (prostacyclin) receptor (IP)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	G	VAL/ALA	0,4252		0,0,2126	11.0	11.0	11.0		383	4.8	1.0	19		11	1,8333		0,1,4166	no	missense	PTGIR	NM_000960.3	64	0,1,6292	AA,AG,GG		0.012,0.0,0.0079	benign	128/387	47127100	1,12585	2126	4167	6293	SO:0001583	missense	0				cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity	g.chr19:47127100G>A		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"""GPCR / Class A : Prostanoid receptors"""	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.383C>T	19.37:g.47127100G>A	ENSP00000291294:p.Ala128Val					PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.A128V	p.A128V	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	2	516	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	128						Missense_Mutation	SNP	ENST00000291294.2	37	c.383C>T	CCDS12686.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466029	0.43839	0.0	1.2E-4	ENSG00000160013	ENST00000291294	T	0.72282	-0.64	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.066528	0.64402	D	0.000012	T	0.69070	0.3070	M	0.65975	2.015	0.35840	D	0.825957	B	0.25772	0.134	B	0.26202	0.067	T	0.72337	-0.4324	10	0.33141	T	0.24	-7.9405	15.5026	0.75713	0.0:0.0:1.0:0.0	.	128	P43119	PI2R_HUMAN	V	128	ENSP00000291294:A128V	ENSP00000291294:A128V	A	-	2	0	PTGIR	51818940	0.995000	0.38212	0.998000	0.56505	0.608000	0.37181	2.596000	0.46205	2.511000	0.84671	0.563000	0.77884	GCG		0.692	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			9	10	0	0	0	1	0	9	10				
NDST2	8509	broad.mit.edu	37	10	75563390	75563390	+	Missense_Mutation	SNP	C	C	T	rs373342432		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:75563390C>T	ENST00000309979.6	-	11	2640	c.2084G>A	c.(2083-2085)cGa>cAa	p.R695Q	RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.R695Q|NDST2_ENST00000299641.4_Missense_Mutation_p.R572Q|ZSWIM8-AS1_ENST00000456638.2_RNA			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	695	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GATCTTGGCTCGTGGCAGGAG	0.557																																						ENST00000299641.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(1714-1716)cGa>cAa		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2							116.0	126.0	123.0					10																	75563390		2203	4300	6503	SO:0001583	missense	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75563390C>T	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.2084G>A	10.37:g.75563390C>T	ENSP00000310657:p.Arg695Gln					NDST2_ENST00000309979.6_Missense_Mutation_p.R695Q	p.R572Q	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN			12	2685	-	Prostate(51;0.0112)		695			Heparan sulfate N-deacetylase 2.		Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	c.1715G>A	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558634	0.86231	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.53640	0.61;0.61	5.95	5.95	0.96441	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.50051	0.1593	L	0.41710	1.295	0.58432	D	0.999994	B;P;P;P	0.51147	0.282;0.483;0.942;0.896	B;B;P;P	0.46659	0.067;0.125;0.523;0.506	T	0.47812	-0.9088	10	0.54805	T	0.06	.	20.3854	0.98941	0.0:1.0:0.0:0.0	.	572;365;218;695	B4E139;B4DQU1;B4DE98;P52849	.;.;.;NDST2_HUMAN	Q	695;572	ENSP00000310657:R695Q;ENSP00000299641:R572Q	ENSP00000299641:R572Q	R	-	2	0	NDST2	75233396	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.780000	0.55386	2.825000	0.97269	0.655000	0.94253	CGA		0.557	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		16	97	0	0	0	1	0	16	97				
LAD1	3898	broad.mit.edu	37	1	201358366	201358366	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:201358366C>T	ENST00000391967.2	-	2	405	c.104G>A	c.(103-105)cGc>cAc	p.R35H	LAD1_ENST00000367313.3_Missense_Mutation_p.R49H	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	35	Poly-Arg.					basement membrane (GO:0005604)	structural molecule activity (GO:0005198)	p.R35L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTCAGGTTGCGGTGCCGCCG	0.657																																						ENST00000391967.2																			1	Substitution - Missense(1)	p.R35L(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						c.(103-105)cGc>cAc		ladinin 1							57.0	54.0	55.0					1																	201358366		2203	4300	6503	SO:0001583	missense	3898					basement membrane	structural molecule activity	g.chr1:201358366C>T	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.104G>A	1.37:g.201358366C>T	ENSP00000375829:p.Arg35His					LAD1_ENST00000367313.3_Missense_Mutation_p.R49H	p.R35H	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN			2	405	-			35			Poly-Arg.		O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	37	c.104G>A	CCDS1410.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337466	0.81911	.	.	ENSG00000159166	ENST00000391967;ENST00000367313	T;T	0.28069	1.75;1.63	5.17	4.26	0.50523	.	0.183587	0.39615	N	0.001312	T	0.49201	0.1543	M	0.62723	1.935	0.43814	D	0.996372	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.975	T	0.49698	-0.8912	10	0.87932	D	0	-17.3494	9.5288	0.39180	0.0:0.9021:0.0:0.0979	.	49;35	E9PDI4;O00515	.;LAD1_HUMAN	H	35;49	ENSP00000375829:R35H;ENSP00000356282:R49H	ENSP00000356282:R49H	R	-	2	0	LAD1	199624989	0.988000	0.35896	0.958000	0.39756	0.933000	0.57130	3.996000	0.57009	1.173000	0.42796	0.643000	0.83706	CGC		0.657	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		5	24	0	0	0	1	0	5	24				
TIPARP	25976	broad.mit.edu	37	3	156411927	156411927	+	Missense_Mutation	SNP	G	G	A	rs200119519		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:156411927G>A	ENST00000461166.1	+	3	1624	c.1036G>A	c.(1036-1038)Gtc>Atc	p.V346I	TIPARP_ENST00000542783.1_Missense_Mutation_p.V346I|TIPARP_ENST00000486483.1_Missense_Mutation_p.V346I|TIPARP_ENST00000295924.7_Missense_Mutation_p.V346I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	346	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTACCACACAGTCTGGAAATT	0.383																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1036-1038)Gtc>Atc		TCDD-inducible poly(ADP-ribose) polymerase							155.0	153.0	153.0					3																	156411927		2203	4300	6503	SO:0001583	missense	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156411927G>A	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1036G>A	3.37:g.156411927G>A	ENSP00000420612:p.Val346Ile					TIPARP_ENST00000542783.1_Missense_Mutation_p.V346I|TIPARP_ENST00000486483.1_Missense_Mutation_p.V346I|TIPARP_ENST00000295924.7_Missense_Mutation_p.V346I	p.V346I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		3	1624	+			346			WWE.		D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	c.1036G>A	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.19|13.19	2.162881|2.162881	0.38217|0.38217	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000495891|ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	.|T;T;T;T;T;T	.|0.33654	.|1.4;1.4;1.4;1.4;1.4;1.4	5.14|5.14	3.15|3.15	0.36227|0.36227	.|WWE domain (1);	.|0.197939	.|0.42682	.|D	.|0.000675	T|T	0.28566|0.28566	0.0707|0.0707	L|L	0.51422|0.51422	1.61|1.61	0.36072|0.36072	D|D	0.842206|0.842206	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.16748|0.16748	-1.0392|-1.0392	5|10	.|0.35671	.|T	.|0.21	.|.	6.5637|6.5637	0.22501|0.22501	0.1538:0.0:0.6637:0.1825|0.1538:0.0:0.6637:0.1825	.|.	.|346	.|Q7Z3E1	.|PARPT_HUMAN	N|I	48|346	.|ENSP00000418757:V346I;ENSP00000295924:V346I;ENSP00000420612:V346I;ENSP00000419982:V346I;ENSP00000418829:V346I;ENSP00000438345:V346I	.|ENSP00000295924:V346I	S|V	+|+	2|1	0|0	TIPARP|TIPARP	157894621|157894621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	2.982000|2.982000	0.49337|0.49337	0.513000|0.513000	0.28278|0.28278	-0.136000|-0.136000	0.14681|0.14681	AGT|GTC		0.383	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		24	46	0	0	0	1	0	24	46				
TAS1R1	80835	broad.mit.edu	37	1	6634741	6634741	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:6634741C>A	ENST00000333172.6	+	3	742	c.549C>A	c.(547-549)ccC>ccA	p.P183P	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Silent_p.P183P	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	183					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GGCAGTATCCCTCTTTCCTGC	0.587																																						ENST00000333172.6																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(547-549)ccC>ccA		taste receptor, type 1, member 1							94.0	89.0	91.0					1																	6634741		2203	4300	6503	SO:0001819	synonymous_variant	0				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6634741C>A		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.549C>A	1.37:g.6634741C>A						TAS1R1_ENST00000328191.4_Silent_p.P183P|TAS1R1_ENST00000351136.3_Intron	p.P183P	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	3	742	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	183					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Silent	SNP	ENST00000333172.6	37	c.549C>A	CCDS81.1	.	.	.	.	.	.	.	.	.	.	C	9.477	1.097257	0.20552	.	.	ENSG00000173662	ENST00000411823	D	0.90004	-2.6	5.12	-2.71	0.05986	.	0.000000	0.85682	D	0.000000	D	0.87924	0.6300	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.82448	-0.0452	7	0.87932	D	0	.	5.2121	0.15322	0.1116:0.2444:0.5006:0.1434	.	.	.	.	H	109	ENSP00000414166:P109H	ENSP00000414166:P109H	P	+	2	0	TAS1R1	6557328	0.001000	0.12720	0.616000	0.29078	0.957000	0.61999	-1.665000	0.01965	-0.459000	0.07013	0.561000	0.74099	CCT		0.587	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			23	34	1	0	1.22574e-08	1	1.28853e-08	23	34				
EP400	57634	broad.mit.edu	37	12	132502815	132502815	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:132502815G>A	ENST00000333577.4	+	22	4388	c.4279G>A	c.(4279-4281)Gca>Aca	p.A1427T	EP400_ENST00000330386.6_Missense_Mutation_p.A1391T|EP400_ENST00000389562.2_Missense_Mutation_p.A1390T|EP400_ENST00000332482.4_Missense_Mutation_p.A1354T|EP400_ENST00000389561.2_Missense_Mutation_p.A1391T			Q96L91	EP400_HUMAN	E1A binding protein p400	1427					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCGTCACGAGGCAGAGTTGCT	0.463																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(4279-4281)Gca>Aca		E1A binding protein p400							55.0	58.0	57.0					12																	132502815		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132502815G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4279G>A	12.37:g.132502815G>A	ENSP00000333602:p.Ala1427Thr					EP400_ENST00000332482.4_Missense_Mutation_p.A1354T|EP400_ENST00000389562.2_Missense_Mutation_p.A1390T|EP400_ENST00000389561.2_Missense_Mutation_p.A1391T|EP400_ENST00000330386.6_Missense_Mutation_p.A1391T	p.A1427T			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	22	4388	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1427					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.4279G>A		.	.	.	.	.	.	.	.	.	.	G	14.33	2.503603	0.44558	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.91894	-2.91;-2.91;-2.92;-2.93;-2.79	5.43	4.54	0.55810	.	0.104086	0.64402	D	0.000003	D	0.88829	0.6543	L	0.54323	1.7	0.34882	D	0.744651	B;B;B	0.31435	0.323;0.323;0.323	B;B;B	0.30495	0.116;0.116;0.116	D	0.90154	0.4223	10	0.54805	T	0.06	.	10.0757	0.42360	0.0713:0.0:0.7905:0.1382	.	1391;1391;1390	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	T	1427;1391;1390;1354;1391;1391;1391	ENSP00000333602:A1427T;ENSP00000374212:A1391T;ENSP00000374213:A1390T;ENSP00000331737:A1354T;ENSP00000330620:A1391T	ENSP00000330620:A1391T	A	+	1	0	EP400	131068768	1.000000	0.71417	0.987000	0.45799	0.984000	0.73092	2.717000	0.47227	1.280000	0.44463	0.655000	0.94253	GCA		0.463	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	42	0	0	0	1	0	6	42				
FAM135B	51059	broad.mit.edu	37	8	139164500	139164500	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:139164500G>A	ENST00000395297.1	-	13	2388	c.2218C>T	c.(2218-2220)Cca>Tca	p.P740S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	740										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATGCCGCTTGGCAAACTTGTG	0.522										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2218-2220)Cca>Tca		family with sequence similarity 135, member B							40.0	42.0	41.0					8																	139164500		2099	4240	6339	SO:0001583	missense	51059							g.chr8:139164500G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2218C>T	8.37:g.139164500G>A	ENSP00000378710:p.Pro740Ser	HNSCC(54;0.14)					p.P740S	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2388	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		740					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2218C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938244	0.73557	.	.	ENSG00000147724	ENST00000395297	T	0.17054	2.3	5.65	5.65	0.86999	.	0.134887	0.49305	D	0.000150	T	0.44850	0.1313	M	0.74258	2.255	0.52501	D	0.99995	D;D;D	0.89917	1.0;0.999;0.991	D;D;P	0.97110	1.0;0.981;0.813	T	0.21655	-1.0239	10	0.48119	T	0.1	-9.2901	18.7244	0.91708	0.0:0.0:1.0:0.0	.	740;740;740	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	S	740	ENSP00000378710:P740S	ENSP00000276737:P740S	P	-	1	0	FAM135B	139233682	1.000000	0.71417	0.971000	0.41717	0.608000	0.37181	7.450000	0.80656	2.678000	0.91216	0.655000	0.94253	CCA		0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		11	31	0	0	0	1	0	11	31				
MTIF3	219402	broad.mit.edu	37	13	28014243	28014243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:28014243G>A	ENST00000381116.1	-	5	577	c.343C>T	c.(343-345)Cga>Tga	p.R115*	MTIF3_ENST00000405591.2_Nonsense_Mutation_p.R115*|MTIF3_ENST00000431572.2_Nonsense_Mutation_p.R115*|MTIF3_ENST00000381120.3_Nonsense_Mutation_p.R115*|MTIF3_ENST00000461838.1_5'UTR			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	115					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		TGAACCAGTCGCAGGTCTCGC	0.478																																						ENST00000381116.1																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(343-345)Cga>Tga		mitochondrial translational initiation factor 3							148.0	127.0	134.0					13																	28014243		2203	4300	6503	SO:0001587	stop_gained	219402				regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity	g.chr13:28014243G>A	BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633	ENST00000381116.1:c.343C>T	13.37:g.28014243G>A	ENSP00000370508:p.Arg115*					MTIF3_ENST00000431572.2_Nonsense_Mutation_p.R115*|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000381120.3_Nonsense_Mutation_p.R115*|MTIF3_ENST00000405591.2_Nonsense_Mutation_p.R115*	p.R115*			Q9H2K0	IF3M_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)	5	577	-		Lung SC(185;0.0161)	115					Q05BL8|Q5W0V0|Q86X68	Nonsense_Mutation	SNP	ENST00000381116.1	37	c.343C>T	CCDS9322.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231196	0.58777	.	.	ENSG00000122033	ENST00000431572;ENST00000405591;ENST00000381116;ENST00000381120	.	.	.	5.82	-3.46	0.04767	.	0.221060	0.46758	D	0.000269	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-12.6473	19.808	0.96537	0.0:0.0:0.705:0.295	.	.	.	.	X	115	.	ENSP00000370508:R115X	R	-	1	2	MTIF3	26912243	0.998000	0.40836	0.014000	0.15608	0.005000	0.04900	1.629000	0.37071	-0.840000	0.04206	-0.274000	0.10170	CGA		0.478	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1	NM_152912		6	76	0	0	0	1	0	6	76				
NAALADL2	254827	broad.mit.edu	37	3	175520891	175520891	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:175520891A>G	ENST00000454872.1	+	14	2416	c.2288A>G	c.(2287-2289)cAa>cGa	p.Q763R		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	763						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GAGACCCTTCAAGAAGCCCTG	0.433																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(2287-2289)cAa>cGa		N-acetylated alpha-linked acidic dipeptidase-like 2							93.0	86.0	88.0					3																	175520891		1836	4094	5930	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175520891A>G		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.2288A>G	3.37:g.175520891A>G	ENSP00000404705:p.Gln763Arg						p.Q763R	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	14	2416	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	763					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.2288A>G	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.653577	0.29425	.	.	ENSG00000177694	ENST00000454872	T	0.32272	1.46	5.67	4.52	0.55395	Transferrin receptor-like, dimerisation domain (2);	0.302494	0.28718	N	0.014379	T	0.19248	0.0462	L	0.27053	0.805	0.25197	N	0.990088	B	0.14012	0.009	B	0.12837	0.008	T	0.16335	-1.0406	10	0.30854	T	0.27	-15.3506	6.6592	0.23004	0.7919:0.0:0.072:0.1361	.	763	Q58DX5	NADL2_HUMAN	R	763	ENSP00000404705:Q763R	ENSP00000404705:Q763R	Q	+	2	0	NAALADL2	177003585	1.000000	0.71417	0.987000	0.45799	0.219000	0.24729	3.487000	0.53222	0.973000	0.38340	0.467000	0.42956	CAA		0.433	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		5	36	0	0	0	1	0	5	36				
TMEM57	55219	broad.mit.edu	37	1	25815687	25815687	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:25815687G>A	ENST00000374343.4	+	9	1699	c.1520G>A	c.(1519-1521)cGg>cAg	p.R507Q	TMEM57_ENST00000399766.3_Missense_Mutation_p.R280Q|TMEM57_ENST00000399763.3_Missense_Mutation_p.R149Q	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	507					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		GAAACCTTACGGAATCGGATC	0.448																																						ENST00000374343.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1519-1521)cGg>cAg		transmembrane protein 57							89.0	88.0	89.0					1																	25815687		2203	4300	6503	SO:0001583	missense	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25815687G>A	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1520G>A	1.37:g.25815687G>A	ENSP00000363463:p.Arg507Gln					TMEM57_ENST00000399763.3_Missense_Mutation_p.R149Q|TMEM57_ENST00000399766.3_Missense_Mutation_p.R280Q	p.R507Q	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	9	1699	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	507					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	c.1520G>A	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243008	0.79912	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	T;T	0.76316	-1.01;2.53	6.04	6.04	0.98038	.	0.058519	0.64402	D	0.000002	T	0.80470	0.4629	M	0.68593	2.085	0.53688	D	0.999978	P;D;P	0.63880	0.907;0.993;0.574	B;P;B	0.49683	0.187;0.619;0.252	T	0.81055	-0.1106	10	0.51188	T	0.08	-11.7893	12.8192	0.57683	0.0737:0.0:0.9263:0.0	.	149;280;507	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	Q	280;149;507	ENSP00000382668:R280Q;ENSP00000363463:R507Q	ENSP00000363463:R507Q	R	+	2	0	TMEM57	25688274	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.271000	0.72569	2.873000	0.98535	0.561000	0.74099	CGG		0.448	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		6	23	0	0	0	1	0	6	23				
DNAH7	56171	broad.mit.edu	37	2	196729067	196729067	+	Missense_Mutation	SNP	G	G	A	rs537891498		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:196729067G>A	ENST00000312428.6	-	41	7412	c.7312C>T	c.(7312-7314)Cgt>Tgt	p.R2438C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2438	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.R2438C(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTAACTGACGCATCTTATCA	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		19822	0.001		0.0	False		,,,				2504	0.0					ENST00000312428.6																			1	Substitution - Missense(1)	p.R2438C(1)	endometrium(1)	NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(7312-7314)Cgt>Tgt		dynein, axonemal, heavy chain 7							151.0	146.0	148.0					2																	196729067		1960	4161	6121	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196729067G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7312C>T	2.37:g.196729067G>A	ENSP00000311273:p.Arg2438Cys						p.R2438C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			41	7412	-			2438			AAA 4 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.7312C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534714	0.85812	.	.	ENSG00000118997	ENST00000312428	T	0.57595	0.39	5.34	5.34	0.76211	Dynein heavy chain, P-loop containing D4 domain (1);	0.056667	0.64402	D	0.000001	T	0.81503	0.4836	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.86502	0.1804	10	0.72032	D	0.01	.	18.8307	0.92137	0.0:0.0:1.0:0.0	.	2438	Q8WXX0	DYH7_HUMAN	C	2438	ENSP00000311273:R2438C	ENSP00000311273:R2438C	R	-	1	0	DNAH7	196437312	1.000000	0.71417	0.999000	0.59377	0.872000	0.50106	9.336000	0.96533	2.785000	0.95823	0.650000	0.86243	CGT		0.433	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		5	75	0	0	0	1	0	5	75				
SAG	6295	broad.mit.edu	37	2	234237188	234237188	+	Nonsense_Mutation	SNP	C	C	T	rs201153410		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:234237188C>T	ENST00000409110.1	+	8	807	c.577C>T	c.(577-579)Cga>Tga	p.R193*	SAG_ENST00000449594.2_Nonsense_Mutation_p.R59*	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	193					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TCCCCAGCCCCGAGCTGAGGC	0.582																																						ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9	GRCh37	CM981785	SAG	M		c.(577-579)Cga>Tga		S-antigen; retina and pineal gland (arrestin)		C	stop/ARG	0,4000		0,0,2000	120.0	115.0	117.0		577	1.6	0.1	2		117	3,8339		0,3,4168	yes	stop-gained	SAG	NM_000541.4		0,3,6168	TT,TC,CC		0.036,0.0,0.0243		193/406	234237188	3,12339	2000	4171	6171	SO:0001587	stop_gained	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234237188C>T		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.577C>T	2.37:g.234237188C>T	ENSP00000386444:p.Arg193*					SAG_ENST00000449594.2_Nonsense_Mutation_p.R59*	p.R193*	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	8	807	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)	193					A0FDN6|Q53SV3|Q99858	Nonsense_Mutation	SNP	ENST00000409110.1	37	c.577C>T	CCDS46545.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745375	0.49151	0.0	3.6E-4	ENSG00000130561	ENST00000252857;ENST00000409110;ENST00000449594	.	.	.	4.19	1.6	0.23607	.	1.939470	0.02219	N	0.063843	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	2.9227	3.3721	0.07224	0.3069:0.4166:0.0:0.2765	.	.	.	.	X	193;193;59	.	ENSP00000252857:R193X	R	+	1	2	SAG	233901927	0.000000	0.05858	0.148000	0.22405	0.047000	0.14425	-0.132000	0.10467	0.187000	0.20147	0.655000	0.94253	CGA		0.582	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		15	45	0	0	0	1	0	15	45				
GALK2	2585	broad.mit.edu	37	15	49574217	49574217	+	Missense_Mutation	SNP	C	C	T	rs201505722	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:49574217C>T	ENST00000560031.1	+	6	845	c.538C>T	c.(538-540)Cgt>Tgt	p.R180C	GALK2_ENST00000327171.3_Missense_Mutation_p.R169C|GALK2_ENST00000544523.1_Missense_Mutation_p.R156C|GALK2_ENST00000559454.1_Missense_Mutation_p.R156C|GALK2_ENST00000396509.2_Missense_Mutation_p.R156C|GALK2_ENST00000543495.1_Missense_Mutation_p.R51C|GALK2_ENST00000561014.1_3'UTR			Q01415	GALK2_HUMAN	galactokinase 2	180					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		CAAGAGTGAGCGTTACATTGG	0.413													C|||	4	0.000798722	0.0	0.0	5008	,	,		20633	0.004		0.0	False		,,,				2504	0.0					ENST00000327171.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(505-507)Cgt>Tgt		galactokinase 2							130.0	121.0	124.0					15																	49574217		2196	4295	6491	SO:0001583	missense	2585				galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity	g.chr15:49574217C>T		CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.538C>T	15.37:g.49574217C>T	ENSP00000453129:p.Arg180Cys					GALK2_ENST00000559454.1_Missense_Mutation_p.R156C|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000396509.2_Missense_Mutation_p.R156C|GALK2_ENST00000543495.1_Missense_Mutation_p.R51C|GALK2_ENST00000560031.1_Missense_Mutation_p.R180C|GALK2_ENST00000544523.1_Missense_Mutation_p.R156C	p.R169C	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)	6	737	+		all_lung(180;0.000325)	180					Q7Z4Q4	Missense_Mutation	SNP	ENST00000560031.1	37	c.505C>T	CCDS42034.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	34	5.350054	0.95830	.	.	ENSG00000156958	ENST00000327171;ENST00000396509;ENST00000543495;ENST00000544523	D;D;D	0.85088	-1.94;-1.94;-1.94	5.79	5.79	0.91817	Ribosomal protein S5 domain 2-type fold (1);GHMP kinase (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.95017	0.8387	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.95691	0.8740	10	0.87932	D	0	0.2286	20.0222	0.97508	0.0:1.0:0.0:0.0	.	180;169	Q01415;Q7Z4Q4	GALK2_HUMAN;.	C	169;180;51;156	ENSP00000316632:R169C;ENSP00000443220:R51C;ENSP00000440312:R156C	ENSP00000316632:R169C	R	+	1	0	GALK2	47361509	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.644000	0.67902	2.726000	0.93360	0.655000	0.94253	CGT		0.413	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417854.1			18	45	0	0	0	1	0	18	45				
DNMT3A	1788	broad.mit.edu	37	2	25463271	25463271	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:25463271G>A	ENST00000264709.3	-	19	2559	c.2222C>T	c.(2221-2223)gCg>gTg	p.A741V	DNMT3A_ENST00000402667.1_Missense_Mutation_p.A518V|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A552V|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A741V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	741	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.A741V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGGGCCGCGCATCATGCAG	0.572			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		1	Substitution - Missense(1)	p.A741V(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(2221-2223)gCg>gTg		DNA (cytosine-5-)-methyltransferase 3 alpha							83.0	78.0	79.0					2																	25463271		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25463271G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2222C>T	2.37:g.25463271G>A	ENSP00000264709:p.Ala741Val					DNMT3A_ENST00000402667.1_Missense_Mutation_p.A518V|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A552V|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A741V	p.A741V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			19	2559	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		741					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.2222C>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132405	0.77662	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92	5.38	5.38	0.77491	.	0.047415	0.85682	D	0.000000	D	0.91123	0.7205	N	0.15975	0.35	0.80722	D	1	P;D	0.69078	0.956;0.997	B;B	0.43889	0.256;0.435	D	0.91733	0.5398	10	0.41790	T	0.15	-11.9058	17.6755	0.88229	0.0:0.0:1.0:0.0	.	741;552	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	V	552;741;741;518	ENSP00000370122:A552V;ENSP00000324375:A741V;ENSP00000264709:A741V;ENSP00000384237:A518V	ENSP00000264709:A741V	A	-	2	0	DNMT3A	25316775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.540000	0.85666	0.561000	0.74099	GCG		0.572	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		25	45	0	0	0	1	0	25	45				
IRAK2	3656	broad.mit.edu	37	3	10219597	10219597	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:10219597C>T	ENST00000256458.4	+	2	260	c.170C>T	c.(169-171)aCg>aTg	p.T57M		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	57	Death.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GTGAGCATCACGCGGGAGCTG	0.637																																						ENST00000256458.4																			0				breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(169-171)aCg>aTg		interleukin-1 receptor-associated kinase 2							70.0	64.0	66.0					3																	10219597		2203	4300	6503	SO:0001583	missense	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|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	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10219597C>T	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.170C>T	3.37:g.10219597C>T	ENSP00000256458:p.Thr57Met						p.T57M	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN			2	260	+			57			Death.		B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	c.170C>T	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518835	0.64634	.	.	ENSG00000134070	ENST00000256458	T	0.70399	-0.48	4.82	4.82	0.62117	Death (1);DEATH-like (2);	0.000000	0.49916	D	0.000129	D	0.82802	0.5116	M	0.74881	2.28	0.50313	D	0.999869	D	0.89917	1.0	D	0.97110	1.0	D	0.85038	0.0921	10	0.87932	D	0	-23.6131	13.4018	0.60887	0.0:1.0:0.0:0.0	.	57	O43187	IRAK2_HUMAN	M	57	ENSP00000256458:T57M	ENSP00000256458:T57M	T	+	2	0	IRAK2	10194597	0.998000	0.40836	0.927000	0.36925	0.718000	0.41266	4.810000	0.62598	2.226000	0.72624	0.491000	0.48974	ACG		0.637	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			16	33	0	0	0	1	0	16	33				
PFN2	5217	broad.mit.edu	37	3	149684332	149684332	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:149684332C>T	ENST00000239940.7	-	3	619	c.367G>A	c.(367-369)Gga>Aga	p.G123R	PFN2_ENST00000489155.1_Missense_Mutation_p.G74R|PFN2_ENST00000481767.1_Intron|PFN2_ENST00000490975.1_Missense_Mutation_p.G108R|PFN2_ENST00000423691.2_Intron|PFN2_ENST00000494827.1_Intron|PFN2_ENST00000497148.1_Missense_Mutation_p.G74R|PFN2_ENST00000475518.1_Missense_Mutation_p.G74R|PFN2_ENST00000498307.1_Missense_Mutation_p.G74R|PFN2_ENST00000452853.2_Intron|PFN2_ENST00000481275.1_Missense_Mutation_p.G74R			P35080	PROF2_HUMAN	profilin 2	123					actin cytoskeleton organization (GO:0030036)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|regulation of synaptic vesicle exocytosis (GO:2000300)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|terminal bouton (GO:0043195)	actin monomer binding (GO:0003785)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.G123R(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTATTCAATCCGCCTCCATGG	0.388																																						ENST00000239940.7																			1	Substitution - Missense(1)	p.G123R(1)	lung(1)	large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						c.(367-369)Gga>Aga		profilin 2							315.0	328.0	323.0					3																	149684332		2203	4300	6503	SO:0001583	missense	5217				actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr3:149684332C>T	L10678	CCDS3148.1, CCDS46934.1	3q25.1	2006-10-16			ENSG00000070087	ENSG00000070087			8882	protein-coding gene	gene with protein product		176590				8975700, 8365484	Standard	NM_002628		Approved		uc003ext.1	P35080	OTTHUMG00000159683	ENST00000239940.7:c.367G>A	3.37:g.149684332C>T	ENSP00000239940:p.Gly123Arg					PFN2_ENST00000452853.2_Intron|PFN2_ENST00000423691.2_Intron|PFN2_ENST00000498307.1_Missense_Mutation_p.G74R|PFN2_ENST00000497148.1_Missense_Mutation_p.G74R|PFN2_ENST00000494827.1_Intron|PFN2_ENST00000490975.1_Missense_Mutation_p.G108R|PFN2_ENST00000489155.1_Missense_Mutation_p.G74R|PFN2_ENST00000481767.1_Intron|PFN2_ENST00000481275.1_Missense_Mutation_p.G74R|PFN2_ENST00000475518.1_Missense_Mutation_p.G74R	p.G123R			P35080	PROF2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		3	619	-			123					B2R4C8|D3DNI4|Q4VBQ4|Q8WVF9|Q9HBK2	Missense_Mutation	SNP	ENST00000239940.7	37	c.367G>A	CCDS3148.1	.	.	.	.	.	.	.	.	.	.	.	9.449	1.090009	0.20390	.	.	ENSG00000070087	ENST00000239940;ENST00000490975;ENST00000497148;ENST00000475518;ENST00000481275;ENST00000498307;ENST00000489155	D;D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	5.61	5.61	0.85477	.	0.456141	0.26213	N	0.025662	T	0.77545	0.4146	N	0.22421	0.69	0.80722	D	1	B	0.22276	0.067	B	0.11329	0.006	T	0.70821	-0.4768	10	0.18276	T	0.48	.	20.0018	0.97417	0.0:1.0:0.0:0.0	.	123	P35080	PROF2_HUMAN	R	123;108;74;74;74;74;74	ENSP00000239940:G123R;ENSP00000417351:G108R;ENSP00000417817:G74R;ENSP00000418142:G74R;ENSP00000418216:G74R;ENSP00000420202:G74R;ENSP00000420504:G74R	ENSP00000239940:G123R	G	-	1	0	PFN2	151167022	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.445000	0.80570	2.793000	0.96121	0.655000	0.94253	GGA		0.388	PFN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356873.2	NM_002628		30	377	0	0	0	1	0	30	377				
PCDHA5	56143	broad.mit.edu	37	5	140203213	140203213	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140203213G>A	ENST00000529859.1	+	1	1853	c.1853G>A	c.(1852-1854)cGc>cAc	p.R618H	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R618H|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R618H|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R618H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGTGCGCGCATCCCGTTC	0.652																																						ENST00000529859.1																			2	Substitution - Missense(2)	p.R618H(2)	large_intestine(2)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1852-1854)cGc>cAc									74.0	77.0	76.0					5																	140203213		2203	4300	6503	SO:0001583	missense	0							g.chr5:140203213G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1853G>A	5.37:g.140203213G>A	ENSP00000436557:p.Arg618His					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R618H|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R618H	p.R618H	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1853	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1853G>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	g	0.473	-0.883725	0.02530	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.52526	0.66;0.66;0.66	3.87	2.06	0.26882	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35508	0.0934	L	0.44542	1.39	0.23421	N	0.997713	B;B;B	0.29301	0.241;0.171;0.171	B;B;B	0.27715	0.082;0.03;0.046	T	0.22941	-1.0202	9	0.41790	T	0.15	.	5.4247	0.16419	0.1933:0.1635:0.6433:0.0	.	618;618;618	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	H	618	ENSP00000433416:R618H;ENSP00000436557:R618H;ENSP00000367366:R618H	ENSP00000367366:R618H	R	+	2	0	PCDHA5	140183397	0.000000	0.05858	0.173000	0.22940	0.289000	0.27227	-0.561000	0.05957	0.264000	0.21851	-0.699000	0.03677	CGC		0.652	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		15	64	0	0	0	1	0	15	64				
IL12A	3592	broad.mit.edu	37	3	159711354	159711354	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:159711354G>A	ENST00000305579.2	+	5	727		c.e5-1		IL12A_ENST00000466512.1_Splice_Site|IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Splice_Site	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A						cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cell adhesion (GO:0045785)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|response to lipopolysaccharide (GO:0032496)|response to UV-B (GO:0010224)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)	interleukin-12 beta subunit binding (GO:0042163)|interleukin-12 receptor binding (GO:0005143)|interleukin-27 binding (GO:0045513)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTTCCTCTAGAATGGGAGTT	0.388																																						ENST00000305579.2																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9						c.e5-1		interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)							121.0	118.0	119.0					3																	159711354		2203	4300	6503	SO:0001630	splice_region_variant	3592				cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity	g.chr3:159711354G>A	M65271	CCDS3187.1	3q25.33	2014-04-04	2014-04-04		ENSG00000168811	ENSG00000168811		"""Interleukins and interleukin receptors"""	5969	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor 1, 35 kD subunit"", ""cytotoxic lymphocyte maturation factor 1, p35"", ""interleukin 12, p35"", ""IL-12, subunit p35"", ""NF cell stimulatory factor chain 1"", ""interleukin-12 alpha chain"", ""IL35 subunit"""	161560	"""interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)"""	NKSF1		1673147	Standard	NM_000882		Approved	CLMF, IL-12A, p35, NFSK	uc003fcx.3	P29459	OTTHUMG00000158942	ENST00000305579.2:c.421-1G>A	3.37:g.159711354G>A						IL12A_ENST00000480787.1_Splice_Site|IL12A_ENST00000466512.1_Splice_Site|CTD-2049J23.2_ENST00000497452.1_RNA		NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		5	727	+								Q96QZ1	Splice_Site	SNP	ENST00000305579.2	37		CCDS3187.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743701	0.30865	.	.	ENSG00000168811	ENST00000305579;ENST00000480787;ENST00000466512	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2128	0.65776	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL12A	161194048	1.000000	0.71417	0.736000	0.30914	0.272000	0.26649	3.614000	0.54160	2.430000	0.82344	0.650000	0.86243	.		0.388	IL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352602.2	NM_000882	Intron	8	84	0	0	0	1	0	8	84				
SPIDR	23514	broad.mit.edu	37	8	48625401	48625401	+	Missense_Mutation	SNP	A	A	C	rs566690509		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:48625401A>C	ENST00000297423.4	+	15	2539	c.2155A>C	c.(2155-2157)Agc>Cgc	p.S719R	SPIDR_ENST00000518074.1_Missense_Mutation_p.S659R|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.S649R|SPIDR_ENST00000517693.1_Missense_Mutation_p.S194R	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	719					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											TGCCCCTCACAGCCTCTTCTT	0.607													A|||	1	0.000199681	0.0008	0.0	5008	,	,		15432	0.0		0.0	False		,,,				2504	0.0					ENST00000297423.4																			0											c.(2155-2157)Agc>Cgc		scaffolding protein involved in DNA repair							77.0	87.0	84.0					8																	48625401		2139	4233	6372	SO:0001583	missense	23514							g.chr8:48625401A>C	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.2155A>C	8.37:g.48625401A>C	ENSP00000297423:p.Ser719Arg					SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000517693.1_Missense_Mutation_p.S194R|SPIDR_ENST00000541342.1_Missense_Mutation_p.S649R|SPIDR_ENST00000518074.1_Missense_Mutation_p.S659R	p.S719R	NM_001080394.2	NP_001073863.1					15	2539	+								B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	c.2155A>C	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	A	10.11	1.260897	0.23051	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362;ENST00000522321;ENST00000518692;ENST00000521056	.	.	.	5.52	0.0227	0.14134	.	0.921050	0.09579	N	0.783139	T	0.18551	0.0445	L	0.34521	1.04	0.09310	N	1	P;P;P;P;P;P;P	0.47302	0.589;0.646;0.893;0.589;0.589;0.589;0.589	B;B;B;B;B;B;B	0.42738	0.145;0.191;0.396;0.188;0.272;0.145;0.188	T	0.12091	-1.0561	9	0.27082	T	0.32	.	0.1568	0.00099	0.2782:0.2528:0.2197:0.2492	.	209;224;659;649;719;194;719	B4DZY2;B4DWT8;B4E0Y6;B4DFV2;B4DEV5;B3KP42;Q14159	.;.;.;.;.;.;K0146_HUMAN	R	719;659;649;224;194;194;80;80;80	.	ENSP00000297423:S719R	S	+	1	0	KIAA0146	48787954	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.101000	0.15251	0.337000	0.23665	-0.408000	0.06270	AGC		0.607	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		17	46	0	0	0	1	0	17	46				
ARID4B	51742	broad.mit.edu	37	1	235416114	235416114	+	Silent	SNP	G	G	A	rs375991062		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:235416114G>A	ENST00000264183.3	-	6	782	c.285C>T	c.(283-285)gaC>gaT	p.D95D	ARID4B_ENST00000366603.2_Silent_p.D95D|ARID4B_ENST00000349213.3_Silent_p.D95D	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	95					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTCATCTCCGTCATCAAAAA	0.378																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(283-285)gaC>gaT		AT rich interactive domain 4B (RBP1-like)		G	,,	1,4405	2.1+/-5.4	0,1,2202	70.0	69.0	70.0		285,285,285	-0.6	1.0	1		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ARID4B	NM_001206794.1,NM_016374.5,NM_031371.3	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	95/1313,95/1313,95/1227	235416114	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235416114G>A	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.285C>T	1.37:g.235416114G>A						ARID4B_ENST00000349213.3_Silent_p.D95D|ARID4B_ENST00000366603.2_Silent_p.D95D	p.D95D	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		6	782	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	95					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	c.285C>T	CCDS31061.1																																																																																				0.378	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		12	32	0	0	0	1	0	12	32				
COPB1	1315	broad.mit.edu	37	11	14491076	14491076	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:14491076T>C	ENST00000249923.3	-	15	2071	c.1771A>G	c.(1771-1773)Act>Gct	p.T591A	COPB1_ENST00000439561.2_Missense_Mutation_p.T591A	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	591					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TGCAGGATAGTAGCCATGAGC	0.398																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(1771-1773)Act>Gct		coatomer protein complex, subunit beta 1							83.0	79.0	80.0					11																	14491076		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14491076T>C	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1771A>G	11.37:g.14491076T>C	ENSP00000249923:p.Thr591Ala					COPB1_ENST00000439561.2_Missense_Mutation_p.T591A	p.T591A	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			15	2071	-			591					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.1771A>G	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	T	18.72	3.684676	0.68157	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.12774	2.65;2.65	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.08447	0.0210	N	0.04508	-0.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23833	-1.0177	10	0.51188	T	0.08	-0.0726	16.3453	0.83126	0.0:0.0:0.0:1.0	.	591	P53618	COPB_HUMAN	A	591	ENSP00000249923:T591A;ENSP00000397873:T591A	ENSP00000249923:T591A	T	-	1	0	COPB1	14447652	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.749000	0.85096	2.261000	0.74972	0.533000	0.62120	ACT		0.398	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		5	52	0	0	0	1	0	5	52				
EPHX1	2052	broad.mit.edu	37	1	226016443	226016443	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:226016443A>G	ENST00000366837.4	+	2	209	c.13A>G	c.(13-15)Atc>Gtc	p.I5V	EPHX1_ENST00000272167.5_Missense_Mutation_p.I5V	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	5					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GTGGCTAGAAATCCTCCTCAC	0.587																																						ENST00000366837.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(13-15)Atc>Gtc		epoxide hydrolase 1, microsomal (xenobiotic)							47.0	46.0	46.0					1																	226016443		2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226016443A>G	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.13A>G	1.37:g.226016443A>G	ENSP00000355802:p.Ile5Val					EPHX1_ENST00000272167.5_Missense_Mutation_p.I5V	p.I5V	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			2	209	+	Breast(184;0.197)		5					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.13A>G	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	A	0.817	-0.749854	0.03041	.	.	ENSG00000143819	ENST00000445856;ENST00000272167;ENST00000448202;ENST00000366837	T;T;T;T	0.16597	2.6;3.72;2.33;3.72	5.0	1.27	0.21489	.	0.365474	0.28349	N	0.015663	T	0.11281	0.0275	L	0.45698	1.435	0.09310	N	1	B	0.14012	0.009	B	0.15870	0.014	T	0.41466	-0.9507	10	0.07644	T	0.81	-12.814	6.7093	0.23268	0.4231:0.4276:0.1493:0.0	.	5	P07099	HYEP_HUMAN	V	5	ENSP00000398491:I5V;ENSP00000272167:I5V;ENSP00000408469:I5V;ENSP00000355802:I5V	ENSP00000272167:I5V	I	+	1	0	EPHX1	224083066	0.961000	0.32948	0.335000	0.25508	0.257000	0.26127	0.908000	0.28545	-0.031000	0.13781	0.379000	0.24179	ATC		0.587	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		4	19	0	0	0	1	0	4	19				
TTI2	80185	broad.mit.edu	37	8	33357854	33357854	+	Missense_Mutation	SNP	G	G	A	rs190298167	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:33357854G>A	ENST00000431156.2	-	7	2032	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	TTI2_ENST00000520636.1_Missense_Mutation_p.R441W|TTI2_ENST00000519356.1_5'UTR|MAK16_ENST00000360128.6_3'UTR|TTI2_ENST00000360742.5_Missense_Mutation_p.R472W	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	472																	ACCTTTACCCGTCCTTGAGAA	0.468													G|||	4	0.000798722	0.0	0.0	5008	,	,		6133	0.001		0.001	False		,,,				2504	0.002					ENST00000431156.2																			0											c.(1414-1416)Cgg>Tgg		TELO2 interacting protein 2							80.0	70.0	73.0					8																	33357854		2203	4300	6503	SO:0001583	missense	80185						binding	g.chr8:33357854G>A	AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.1414C>T	8.37:g.33357854G>A	ENSP00000411169:p.Arg472Trp					TTI2_ENST00000519356.1_5'UTR|TTI2_ENST00000520636.1_Missense_Mutation_p.R441W|TTI2_ENST00000360742.5_Missense_Mutation_p.R472W|MAK16_ENST00000360128.6_3'UTR	p.R472W	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN			7	2032	-			472					D3DSV7|Q96IM2|Q9H5N4	Missense_Mutation	SNP	ENST00000431156.2	37	c.1414C>T	CCDS6090.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.59	3.166269	0.57476	.	.	ENSG00000129696	ENST00000360742;ENST00000431156;ENST00000522668;ENST00000520636	T;T;T	0.56103	0.48;0.48;0.49	5.38	5.38	0.77491	.	0.609692	0.16624	N	0.206367	T	0.49115	0.1538	L	0.36672	1.1	0.80722	D	1	D;D	0.69078	0.995;0.997	B;B	0.44315	0.446;0.332	T	0.54801	-0.8239	10	0.66056	D	0.02	-5.4564	16.6358	0.85059	0.0:0.0:1.0:0.0	.	472;441	Q6NXR4;E5RIH5	TTI2_HUMAN;.	W	472;472;461;441	ENSP00000353971:R472W;ENSP00000411169:R472W;ENSP00000428401:R441W	ENSP00000353971:R472W	R	-	1	2	C8orf41	33477396	0.056000	0.20664	0.120000	0.21714	0.407000	0.30961	2.467000	0.45093	2.523000	0.85059	0.557000	0.71058	CGG		0.468	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115		11	30	0	0	0	1	0	11	30				
PDE4A	5141	broad.mit.edu	37	19	10578250	10578250	+	Missense_Mutation	SNP	G	G	A	rs201190584		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:10578250G>A	ENST00000352831.6	+	15	2724	c.2614G>A	c.(2614-2616)Gca>Aca	p.A872T	PDE4A_ENST00000293683.5_Missense_Mutation_p.A846T|PDE4A_ENST00000344979.3_Missense_Mutation_p.A633T|PDE4A_ENST00000380702.2_Missense_Mutation_p.A850T|PDE4A_ENST00000592685.1_Missense_Mutation_p.A850T|PDE4A_ENST00000440014.2_Missense_Mutation_p.A811T	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	872					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	GGACACATCCGCACTCCCAGC	0.677																																						ENST00000380702.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(2548-2550)Gca>Aca		phosphodiesterase 4A, cAMP-specific	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						43.0	45.0	44.0					19																	10578250		2141	4203	6344	SO:0001583	missense	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10578250G>A		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.2614G>A	19.37:g.10578250G>A	ENSP00000270474:p.Ala872Thr					PDE4A_ENST00000352831.6_Missense_Mutation_p.A872T|PDE4A_ENST00000592685.1_Missense_Mutation_p.A850T|PDE4A_ENST00000440014.2_Missense_Mutation_p.A811T|PDE4A_ENST00000293683.5_Missense_Mutation_p.A846T|PDE4A_ENST00000344979.3_Missense_Mutation_p.A633T	p.A850T			P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		16	2548	+			872					O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	c.2548G>A	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	g	6.240	0.412414	0.11812	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979	T;T;T;T;T	0.65178	-0.13;-0.13;-0.14;-0.13;0.18	3.84	-4.74	0.03249	.	2.419030	0.01892	N	0.038623	T	0.36552	0.0971	N	0.08118	0	0.09310	N	1	B;B;B;B	0.14805	0.008;0.008;0.011;0.004	B;B;B;B	0.09377	0.004;0.004;0.003;0.001	T	0.16070	-1.0415	10	0.18710	T	0.47	.	5.9641	0.19315	0.253:0.313:0.4341:0.0	.	633;811;846;872	P27815-4;P27815-6;P27815-2;P27815	.;.;.;PDE4A_HUMAN	T	850;872;846;811;633	ENSP00000370078:A850T;ENSP00000270474:A872T;ENSP00000293683:A846T;ENSP00000394754:A811T;ENSP00000341007:A633T	ENSP00000293683:A846T	A	+	1	0	PDE4A	10439250	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-1.986000	0.01484	-0.960000	0.03613	0.298000	0.19748	GCA		0.677	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			5	52	0	0	0	1	0	5	52				
SWT1	54823	broad.mit.edu	37	1	185259915	185259915	+	Missense_Mutation	SNP	A	A	G	rs200005543		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:185259915A>G	ENST00000367500.4	+	19	2848	c.2683A>G	c.(2683-2685)Atg>Gtg	p.M895V	SWT1_ENST00000367501.3_Missense_Mutation_p.M895V	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	895										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GTGTGAAGACATGCTCAACTA	0.403													A|||	1	0.000199681	0.0	0.0	5008	,	,		15012	0.0		0.001	False		,,,				2504	0.0					ENST00000367500.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(2683-2685)Atg>Gtg		SWT1 RNA endoribonuclease homolog (S. cerevisiae)		A	VAL/MET,VAL/MET	0,4406		0,0,2203	91.0	89.0	89.0		2683,2683	2.0	0.0	1		89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SWT1	NM_001105518.1,NM_017673.6	21,21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	895/901,895/901	185259915	1,13005	2203	4300	6503	SO:0001583	missense	54823							g.chr1:185259915A>G	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.2683A>G	1.37:g.185259915A>G	ENSP00000356470:p.Met895Val					SWT1_ENST00000367501.3_Missense_Mutation_p.M895V	p.M895V	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN			19	2848	+			895					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.2683A>G	CCDS1367.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	1.518	-0.547793	0.04024	0.0	1.16E-4	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.19394	2.15;2.15	5.67	2.02	0.26589	.	0.691975	0.14405	N	0.321602	T	0.12860	0.0312	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.25916	-1.0118	10	0.37606	T	0.19	.	5.6068	0.17385	0.4326:0.3484:0.219:0.0	.	895	Q5T5J6	SWT1_HUMAN	V	895	ENSP00000356471:M895V;ENSP00000356470:M895V	ENSP00000356470:M895V	M	+	1	0	SWT1	183526538	0.394000	0.25246	0.018000	0.16275	0.087000	0.18053	1.486000	0.35530	0.085000	0.17107	-0.261000	0.10672	ATG		0.403	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		11	16	0	0	0	1	0	11	16				
GMIP	51291	broad.mit.edu	37	19	19748735	19748735	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:19748735C>A	ENST00000203556.4	-	10	1058	c.921G>T	c.(919-921)ctG>ctT	p.L307L	GMIP_ENST00000587238.1_Silent_p.L307L|GMIP_ENST00000445806.2_Silent_p.L307L|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	307					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCACCCGCCTCAGCACTTCAT	0.672																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(919-921)ctG>ctT		GEM interacting protein							60.0	48.0	52.0					19																	19748735		2203	4300	6503	SO:0001819	synonymous_variant	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19748735C>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.921G>T	19.37:g.19748735C>A						GMIP_ENST00000445806.2_Silent_p.L307L|GMIP_ENST00000587238.1_Silent_p.L307L	p.L307L	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			10	1058	-			307					A0AVN9|B7ZLZ0	Silent	SNP	ENST00000203556.4	37	c.921G>T	CCDS12408.1																																																																																				0.672	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		8	15	1	0	2.17888e-05	1	2.24902e-05	8	15				
GIGYF1	64599	broad.mit.edu	37	7	100280926	100280926	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100280926C>T	ENST00000275732.5	-	18	3403		c.e18+1		GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1						insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGAGCACCCACGTGCTTGCGC	0.642																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.e18+1		GRB10 interacting GYF protein 1							61.0	73.0	69.0					7																	100280926		2203	4300	6503	SO:0001630	splice_region_variant	64599							g.chr7:100280926C>T	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2193+1G>A	7.37:g.100280926C>T								NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			18	3403	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)							Q6Y7W7|Q8WZ38	Splice_Site	SNP	ENST00000275732.5	37		CCDS34708.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563770	0.45694	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2952	0.43620	0.0:0.7994:0.2006:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GIGYF1	100118862	1.000000	0.71417	0.963000	0.40424	0.624000	0.37722	3.055000	0.49916	2.261000	0.74972	0.313000	0.20887	.		0.642	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574	Intron	30	49	0	0	0	1	0	30	49				
ACRC	93953	broad.mit.edu	37	X	70823665	70823665	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:70823665G>A	ENST00000373695.1	+	7	1075	c.538G>A	c.(538-540)Gac>Aac	p.D180N	ACRC_ENST00000373696.3_Missense_Mutation_p.D180N			Q96QF7	ACRC_HUMAN	acidic repeat containing	180	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGAAGCTCCCGACGACAATAG	0.498																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(538-540)Gac>Aac		acidic repeat containing							273.0	224.0	241.0					X																	70823665		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70823665G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.538G>A	X.37:g.70823665G>A	ENSP00000362799:p.Asp180Asn					ACRC_ENST00000373696.3_Missense_Mutation_p.D180N	p.D180N			Q96QF7	ACRC_HUMAN			7	1075	+	Renal(35;0.156)		180			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.538G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	G	8.404	0.842624	0.16963	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.43294	0.95;0.95	0.14	-0.28	0.12886	.	.	.	.	.	T	0.22742	0.0549	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.13737	-1.0498	9	0.72032	D	0.01	.	4.6776	0.12719	0.3195:0.0:0.6805:0.0	.	180	Q96QF7	ACRC_HUMAN	N	180	ENSP00000362800:D180N;ENSP00000362799:D180N	ENSP00000362799:D180N	D	+	1	0	ACRC	70740390	0.109000	0.22037	0.004000	0.12327	0.004000	0.04260	0.325000	0.19628	-1.298000	0.02348	-1.306000	0.01317	GAC		0.498	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			119	60	0	0	0	1	0	119	60				
RNF215	200312	broad.mit.edu	37	22	30776149	30776149	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30776149T>C	ENST00000382363.3	-	7	984	c.910A>G	c.(910-912)Aag>Gag	p.K304E	RP1-130H16.16_ENST00000332468.4_RNA	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	304						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CGCCGTGTCTTGAGGGATGCC	0.657																																						ENST00000382363.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(910-912)Aag>Gag		ring finger protein 215							54.0	63.0	60.0					22																	30776149		2203	4300	6503	SO:0001583	missense	200312					integral to membrane	zinc ion binding	g.chr22:30776149T>C		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"""RING-type (C3HC4) zinc fingers"""	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.910A>G	22.37:g.30776149T>C	ENSP00000371800:p.Lys304Glu						p.K304E	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN			7	984	-			304					A6NEL1	Missense_Mutation	SNP	ENST00000382363.3	37	c.910A>G	CCDS33633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.657403|4.657403	0.88154|0.88154	.|.	.|.	ENSG00000099999|ENSG00000099999	ENST00000382363|ENST00000215798	T|.	0.18960|.	2.18|.	3.61|3.61	3.61|3.61	0.41365|0.41365	.|.	0.197313|.	0.42294|.	D|.	0.000723|.	T|T	0.43411|0.43411	0.1246|0.1246	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D|.	0.58268|.	0.982|.	P|.	0.49799|.	0.622|.	T|T	0.25398|0.25398	-1.0133|-1.0133	10|5	0.25751|.	T|.	0.34|.	-24.3446|-24.3446	10.9128|10.9128	0.47118|0.47118	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	304|.	Q9Y6U7|.	RN215_HUMAN|.	E|R	304|241	ENSP00000371800:K304E|.	ENSP00000371800:K304E|.	K|Q	-|-	1|2	0|0	RNF215|RNF215	29106149|29106149	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	1.391000|1.391000	0.34475|0.34475	1.643000|1.643000	0.50594|0.50594	0.459000|0.459000	0.35465|0.35465	AAG|CAA		0.657	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	NM_001017981		10	65	0	0	0	1	0	10	65				
ATP2B2	491	broad.mit.edu	37	3	10392202	10392202	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:10392202G>A	ENST00000352432.4	-	14	2265	c.2196C>T	c.(2194-2196)ggC>ggT	p.G732G	ATP2B2_ENST00000397077.1_Silent_p.G687G|ATP2B2_ENST00000383800.4_Silent_p.G687G|ATP2B2_ENST00000343816.4_Silent_p.G718G|ATP2B2_ENST00000360273.2_Silent_p.G732G			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	732					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGATATTGTCGCCAGTGACCA	0.632																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(2059-2061)ggC>ggT		ATPase, Ca++ transporting, plasma membrane 2							107.0	94.0	98.0					3																	10392202		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10392202G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2196C>T	3.37:g.10392202G>A						ATP2B2_ENST00000383800.4_Silent_p.G687G|ATP2B2_ENST00000360273.2_Silent_p.G732G|ATP2B2_ENST00000343816.4_Silent_p.G718G|ATP2B2_ENST00000352432.4_Silent_p.G732G	p.G687G			Q01814	AT2B2_HUMAN			14	2636	-			732					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.2061C>T	CCDS33701.1																																																																																				0.632	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		12	27	0	0	0	1	0	12	27				
TEKT5	146279	broad.mit.edu	37	16	10788424	10788424	+	Missense_Mutation	SNP	G	G	A	rs143356838		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:10788424G>A	ENST00000283025.2	-	1	378	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	103						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TCGGCCCCACGCACCTGCAGC	0.672																																						ENST00000283025.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						c.(307-309)Cgt>Tgt		tektin 5		G	CYS/ARG	1,4393		0,1,2196	59.0	69.0	66.0		307	2.3	0.0	16	dbSNP_134	66	0,8600		0,0,4300	no	missense	TEKT5	NM_144674.1	180	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	benign	103/486	10788424	1,12993	2197	4300	6497	SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10788424G>A		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.307C>T	16.37:g.10788424G>A	ENSP00000283025:p.Arg103Cys						p.R103C	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN			1	378	-			103					A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.307C>T	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	.	6.466	0.454167	0.12283	2.28E-4	0.0	ENSG00000153060	ENST00000283025	T	0.02682	4.2	5.4	2.26	0.28386	.	0.645656	0.14114	N	0.340523	T	0.02342	0.0072	N	0.25485	0.75	0.20764	N	0.999857	B	0.17268	0.021	B	0.21151	0.033	T	0.45041	-0.9288	10	0.49607	T	0.09	-4.9599	4.1399	0.10188	0.0768:0.1249:0.405:0.3933	.	103	Q96M29	TEKT5_HUMAN	C	103	ENSP00000283025:R103C	ENSP00000283025:R103C	R	-	1	0	TEKT5	10695925	0.015000	0.18098	0.001000	0.08648	0.142000	0.21351	1.092000	0.30927	0.298000	0.22638	0.650000	0.86243	CGT		0.672	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		7	78	0	0	0	1	0	7	78				
TMEM128	85013	broad.mit.edu	37	4	4239662	4239662	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:4239662G>A	ENST00000382753.4	-	4	408	c.399C>T	c.(397-399)tgC>tgT	p.C133C	TMEM128_ENST00000538516.1_Intron|TMEM128_ENST00000540397.1_Splice_Site_p.C133C|TMEM128_ENST00000254742.2_Splice_Site_p.C109C			Q5BJH2	TM128_HUMAN	transmembrane protein 128	133						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		CAATGTTGAAGCTGAAAAGAA	0.343																																						ENST00000254742.2																			0				endometrium(1)|kidney(1)	2						c.e4-1		transmembrane protein 128							44.0	38.0	40.0					4																	4239662		2203	4300	6503	SO:0001630	splice_region_variant	85013					integral to membrane		g.chr4:4239662G>A	BC007729	CCDS3373.1, CCDS75099.1	4p16.3	2008-02-05			ENSG00000132406	ENSG00000132406			28201	protein-coding gene	gene with protein product							Standard	XM_005248034		Approved	MGC13159	uc003ghq.1	Q5BJH2	OTTHUMG00000125475	ENST00000382753.4:c.399-1C>T	4.37:g.4239662G>A						TMEM128_ENST00000540397.1_Splice_Site_p.C133_splice|TMEM128_ENST00000538516.1_Intron|TMEM128_ENST00000382753.4_Splice_Site_p.C133_splice	p.C109_splice	NM_032927.2	NP_116316.1	Q5BJH2	TM128_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.166)	4	913	-			133					B4DHS7|D3DVS3|Q5H9U6|Q96I94	Splice_Site	SNP	ENST00000382753.4	37	c.326_splice																																																																																					0.343	TMEM128-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000246798.2	NM_032927	Silent	8	33	0	0	0	1	0	8	33				
GABRA5	2558	broad.mit.edu	37	15	27193181	27193181	+	Missense_Mutation	SNP	C	C	T	rs565602814		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:27193181C>T	ENST00000335625.5	+	11	2078	c.1190C>T	c.(1189-1191)aCg>aTg	p.T397M	GABRA5_ENST00000355395.5_Missense_Mutation_p.T397M|GABRA5_ENST00000400081.3_Missense_Mutation_p.T397M	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	397					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CCAGCAGGGACGTCGAATACA	0.423																																						ENST00000335625.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(1189-1191)aCg>aTg		gamma-aminobutyric acid (GABA) A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						48.0	46.0	47.0					15																	27193181		1861	4099	5960	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27193181C>T		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1190C>T	15.37:g.27193181C>T	ENSP00000335592:p.Thr397Met					GABRA5_ENST00000400081.3_Missense_Mutation_p.T397M|GABRA5_ENST00000355395.5_Missense_Mutation_p.T397M	p.T397M	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	11	2078	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	397					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.1190C>T	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	C	4.187	0.033339	0.08101	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.85629	-2.01;-2.01;-2.01	4.39	2.44	0.29823	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.435592	0.25738	N	0.028639	T	0.70902	0.3277	N	0.08118	0	0.26656	N	0.972005	B	0.28082	0.2	B	0.34301	0.179	T	0.65030	-0.6267	10	0.52906	T	0.07	.	8.5135	0.33231	0.0:0.7246:0.0:0.2754	.	397	P31644	GBRA5_HUMAN	M	397	ENSP00000335592:T397M;ENSP00000347557:T397M;ENSP00000382953:T397M	ENSP00000335592:T397M	T	+	2	0	GABRA5	24775927	0.995000	0.38212	0.288000	0.24862	0.230000	0.25150	2.604000	0.46274	0.952000	0.37798	0.591000	0.81541	ACG		0.423	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			4	13	0	0	0	1	0	4	13				
BRPF1	7862	broad.mit.edu	37	3	9776141	9776141	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:9776141G>A	ENST00000457855.1	+	1	328	c.317G>A	c.(316-318)cGc>cAc	p.R106H	BRPF1_ENST00000383829.2_Missense_Mutation_p.R106H|BRPF1_ENST00000424362.1_Missense_Mutation_p.R106H|BRPF1_ENST00000302054.3_Missense_Mutation_p.R106H|BRPF1_ENST00000433861.2_Missense_Mutation_p.R106H			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	106	Interaction with KAT6A and KAT6B.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TTGCATGGCCGCGTCCACCGC	0.597																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(316-318)cGc>cAc		bromodomain and PHD finger containing, 1							102.0	107.0	105.0					3																	9776141		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9776141G>A	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.317G>A	3.37:g.9776141G>A	ENSP00000410210:p.Arg106His					BRPF1_ENST00000302054.3_Missense_Mutation_p.R106H|BRPF1_ENST00000424362.1_Missense_Mutation_p.R106H|BRPF1_ENST00000457855.1_Missense_Mutation_p.R106H|BRPF1_ENST00000433861.2_Missense_Mutation_p.R106H	p.R106H	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			2	721	+	Medulloblastoma(99;0.227)		106			Interaction with MYST3 and MYST4.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.317G>A	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	34	5.368416	0.95900	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	5.73	5.73	0.89815	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61739	0.2371	M	0.66939	2.045	0.80722	D	1	P;P;P;P	0.48016	0.904;0.713;0.713;0.869	P;B;B;P	0.47528	0.514;0.428;0.428;0.549	T	0.61724	-0.7004	10	0.44086	T	0.13	.	19.4877	0.95037	0.0:0.0:1.0:0.0	.	106;106;106;106	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	H	106	ENSP00000402485:R106H;ENSP00000398863:R106H;ENSP00000373340:R106H;ENSP00000306297:R106H;ENSP00000410210:R106H	ENSP00000306297:R106H	R	+	2	0	BRPF1	9751141	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	6.348000	0.73009	2.709000	0.92574	0.563000	0.77884	CGC		0.597	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		28	42	0	0	0	1	0	28	42				
TRAPPC8	22878	broad.mit.edu	37	18	29488975	29488975	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:29488975T>C	ENST00000283351.4	-	7	1201		c.e7-2		TRAPPC8_ENST00000582513.1_Splice_Site|TRAPPC8_ENST00000582539.1_Splice_Site	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8						vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTAAGCCATCTACTGAAAAAG	0.358																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.e7-2		trafficking protein particle complex 8							60.0	56.0	58.0					18																	29488975		2203	4300	6503	SO:0001630	splice_region_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29488975T>C	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.866-2A>G	18.37:g.29488975T>C						TRAPPC8_ENST00000582539.1_Splice_Site|TRAPPC8_ENST00000582513.1_Splice_Site		NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			7	1201	-								A0JP15|B3KME5|Q9H0L2	Splice_Site	SNP	ENST00000283351.4	37		CCDS11901.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.965290	0.53507	.	.	ENSG00000153339	ENST00000283351	.	.	.	5.56	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2984	0.54860	0.0:0.0:0.1413:0.8587	.	.	.	.	.	-1	.	.	.	-	.	.	TRAPPC8	27742973	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	3.090000	0.50191	2.115000	0.64714	0.528000	0.53228	.		0.358	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939	Intron	11	30	0	0	0	1	0	11	30				
DNAH3	55567	broad.mit.edu	37	16	21053359	21053359	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:21053359T>C	ENST00000261383.3	-	32	4627	c.4628A>G	c.(4627-4629)gAc>gGc	p.D1543G	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1543G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1543	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTGAGATTGTCGGGCAGTTC	0.517																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(4627-4629)gAc>gGc		dynein, axonemal, heavy chain 3							88.0	82.0	84.0					16																	21053359		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21053359T>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4628A>G	16.37:g.21053359T>C	ENSP00000261383:p.Asp1543Gly					DNAH3_ENST00000415178.1_Missense_Mutation_p.D1543G	p.D1543G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	32	4627	-			1543			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.4628A>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678545	0.68042	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.39787	1.06;1.06	4.82	4.82	0.62117	ATPase, AAA+ type, core (1);	0.129548	0.49916	D	0.000140	T	0.71762	0.3378	M	0.93197	3.39	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.80712	-0.1260	10	0.87932	D	0	.	14.8466	0.70264	0.0:0.0:0.0:1.0	.	1543	Q8TD57	DYH3_HUMAN	G	1543	ENSP00000261383:D1543G;ENSP00000394245:D1543G	ENSP00000261383:D1543G	D	-	2	0	DNAH3	20960860	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	7.776000	0.85560	2.155000	0.67459	0.482000	0.46254	GAC		0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		20	48	0	0	0	1	0	20	48				
FHOD1	29109	broad.mit.edu	37	16	67264379	67264379	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:67264379G>A	ENST00000258201.4	-	19	3136	c.2889C>T	c.(2887-2889)taC>taT	p.Y963Y		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	963	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CCTGCGGGGTGTAGCCCAGGT	0.602																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2887-2889)taC>taT		formin homology 2 domain containing 1							81.0	84.0	83.0					16																	67264379		2198	4300	6498	SO:0001819	synonymous_variant	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67264379G>A	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2889C>T	16.37:g.67264379G>A						FHOD1_ENST00000567687.1_Silent_p.Y542Y	p.Y963Y	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	19	3136	-		Ovarian(137;0.0563)	963			FH2.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	ENST00000258201.4	37	c.2889C>T	CCDS10834.1																																																																																				0.602	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			13	79	0	0	0	1	0	13	79				
FREM2	341640	broad.mit.edu	37	13	39261856	39261856	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:39261856G>A	ENST00000280481.7	+	1	591	c.375G>A	c.(373-375)aaG>aaA	p.K125K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	125					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGAGTCCCAAGCGCTTCCCGT	0.697																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(373-375)aaG>aaA		FRAS1 related extracellular matrix protein 2							21.0	21.0	21.0					13																	39261856		2203	4296	6499	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39261856G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.375G>A	13.37:g.39261856G>A							p.K125K	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	591	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	125					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.375G>A	CCDS31960.1																																																																																				0.697	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		3	2	0	0	0	1	0	3	2				
SLC6A3	6531	broad.mit.edu	37	5	1422012	1422012	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:1422012C>A	ENST00000270349.9	-	5	898	c.771G>T	c.(769-771)aaG>aaT	p.K257N	SLC6A3_ENST00000453492.2_Missense_Mutation_p.K257N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	257					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCTTCACGCCCTTCCAGAGGC	0.637																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(769-771)aaG>aaT		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						111.0	95.0	100.0					5																	1422012		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1422012C>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.771G>T	5.37:g.1422012C>A	ENSP00000270349:p.Lys257Asn					SLC6A3_ENST00000453492.2_Missense_Mutation_p.K257N	p.K257N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		5	898	-			257					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.771G>T	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709582	0.48517	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.80909	-1.43;-1.43;-1.43	4.4	2.13	0.27403	.	0.110904	0.64402	D	0.000013	D	0.87485	0.6189	M	0.82923	2.615	0.46849	D	0.999224	D	0.89917	1.0	D	0.81914	0.995	D	0.86374	0.1725	10	0.87932	D	0	.	6.8239	0.23872	0.0:0.7116:0.0:0.2884	.	257	Q01959	SC6A3_HUMAN	N	257;257;183	ENSP00000270349:K257N;ENSP00000399806:K257N;ENSP00000429101:K183N	ENSP00000270349:K257N	K	-	3	2	SLC6A3	1475012	0.995000	0.38212	0.998000	0.56505	0.477000	0.33069	0.317000	0.19487	0.960000	0.38005	0.462000	0.41574	AAG		0.637	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		15	56	1	0	2.32078e-09	1	2.44972e-09	15	56				
TADA3	10474	broad.mit.edu	37	3	9825746	9825746	+	Missense_Mutation	SNP	C	C	T	rs547844232		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:9825746C>T	ENST00000301964.2	-	8	1630	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	TADA3_ENST00000343450.2_Missense_Mutation_p.A358T|TADA3_ENST00000440161.1_Missense_Mutation_p.A358T	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	358					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CGGTTGTGGGCACTAAGTGCC	0.627																																						ENST00000343450.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1072-1074)Gcc>Acc		transcriptional adaptor 3							74.0	56.0	62.0					3																	9825746		2203	4300	6503	SO:0001583	missense	10474				estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr3:9825746C>T	AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"""transcriptional adaptor 3 (NGG1 homolog, yeast)-like"""	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.1072G>A	3.37:g.9825746C>T	ENSP00000307684:p.Ala358Thr					TADA3_ENST00000440161.1_Missense_Mutation_p.A358T|TADA3_ENST00000301964.2_Missense_Mutation_p.A358T	p.A358T	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN			8	1619	-			358					Q6FI83|Q9UFS2	Missense_Mutation	SNP	ENST00000301964.2	37	c.1072G>A	CCDS2583.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894076	0.52121	.	.	ENSG00000171148	ENST00000301964;ENST00000440161;ENST00000343450	.	.	.	6.17	6.17	0.99709	.	0.104365	0.64402	D	0.000004	T	0.52725	0.1752	L	0.45581	1.43	0.53688	D	0.999976	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.44832	-0.9302	9	0.12103	T	0.63	-10.3611	13.2493	0.60041	0.0:0.9279:0.0:0.0721	.	358;358	O75528;A8K899	TADA3_HUMAN;.	T	358	.	ENSP00000307684:A358T	A	-	1	0	TADA3	9800746	0.996000	0.38824	0.992000	0.48379	0.796000	0.44982	2.550000	0.45811	2.941000	0.99782	0.655000	0.94253	GCC		0.627	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250236.1			5	20	0	0	0	1	0	5	20				
CFAP45	25790	broad.mit.edu	37	1	159860404	159860404	+	Silent	SNP	G	G	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:159860404G>C	ENST00000368099.4	-	3	202	c.138C>G	c.(136-138)gcC>gcG	p.A46A	CCDC19_ENST00000426543.2_5'UTR|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCTGGCCCTGGGCTGGGGACT	0.532																																						ENST00000368099.4																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(136-138)gcC>gcG		coiled-coil domain containing 19							93.0	94.0	94.0					1																	159860404		2203	4300	6503	SO:0001819	synonymous_variant	25790					mitochondrion|soluble fraction		g.chr1:159860404G>C																												ENST00000368099.4:c.138C>G	1.37:g.159860404G>C						CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR	p.A46A	NM_012337.2	NP_036469.2	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		3	202	-	all_hematologic(112;0.0597)		46						Silent	SNP	ENST00000368099.4	37	c.138C>G	CCDS30914.1																																																																																				0.532	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			4	55	0	0	0	1	0	4	55				
CERCAM	51148	broad.mit.edu	37	9	131196462	131196462	+	Missense_Mutation	SNP	C	C	T	rs372180473	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:131196462C>T	ENST00000372838.4	+	10	1683	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	CERCAM_ENST00000372842.1_Missense_Mutation_p.R351W|RP11-339B21.10_ENST00000610052.1_RNA	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	429					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GCGGCTGGAGCGGCTGATGGA	0.632													C|||	3	0.000599042	0.0015	0.0	5008	,	,		17444	0.0		0.0	False		,,,				2504	0.001					ENST00000372842.1																			0				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						c.(1051-1053)Cgg>Tgg		cerebral endothelial cell adhesion molecule		C	TRP/ARG	0,4406		0,0,2203	56.0	58.0	57.0		1285	0.7	0.2	9		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	CERCAM	NM_016174.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	429/596	131196462	1,13005	2203	4300	6503	SO:0001583	missense	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131196462C>T	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1285C>T	9.37:g.131196462C>T	ENSP00000361929:p.Arg429Trp					CERCAM_ENST00000372838.4_Missense_Mutation_p.R429W	p.R351W			Q5T4B2	GT253_HUMAN			11	4195	+			429					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	c.1051C>T	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793648	0.50102	0.0	1.16E-4	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	T;T	0.78126	-1.15;-1.14	5.74	0.679	0.17975	.	0.408059	0.25616	N	0.029460	T	0.73210	0.3558	M	0.78049	2.395	0.51233	D	0.999916	B	0.17465	0.022	B	0.18561	0.022	T	0.65096	-0.6251	10	0.72032	D	0.01	-23.409	6.3122	0.21171	0.374:0.4914:0.0:0.1346	.	429	Q5T4B2	GT253_HUMAN	W	351;429;382	ENSP00000361933:R351W;ENSP00000361929:R429W	ENSP00000361929:R429W	R	+	1	2	CERCAM	130236283	0.000000	0.05858	0.214000	0.23707	0.778000	0.44026	-0.472000	0.06623	-0.137000	0.11455	-0.953000	0.02652	CGG		0.632	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		6	36	0	0	0	1	0	6	36				
BAZ1A	11177	broad.mit.edu	37	14	35255348	35255348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:35255348C>T	ENST00000382422.2	-	12	1917	c.1590G>A	c.(1588-1590)tgG>tgA	p.W530*	BAZ1A_ENST00000358716.4_Intron|BAZ1A_ENST00000360310.1_Nonsense_Mutation_p.W530*			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	530					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GTAACTGTGGCCATGCAGCTG	0.358																																						ENST00000360310.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1588-1590)tgG>tgA		bromodomain adjacent to zinc finger domain, 1A							43.0	41.0	42.0					14																	35255348		2203	4300	6503	SO:0001587	stop_gained	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35255348C>T	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.1590G>A	14.37:g.35255348C>T	ENSP00000371859:p.Trp530*					BAZ1A_ENST00000382422.2_Nonsense_Mutation_p.W530*|BAZ1A_ENST00000358716.4_Intron	p.W530*	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	13	2157	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		530					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Nonsense_Mutation	SNP	ENST00000382422.2	37	c.1590G>A	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	C	44	11.044200	0.99507	.	.	ENSG00000198604	ENST00000382422;ENST00000360310	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7299	0.91731	0.0:1.0:0.0:0.0	.	.	.	.	X	530	.	ENSP00000353458:W530X	W	-	3	0	BAZ1A	34325099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.349000	0.79376	2.405000	0.81733	0.555000	0.69702	TGG		0.358	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			5	27	0	0	0	1	0	5	27				
ARHGEF19	128272	broad.mit.edu	37	1	16534048	16534048	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:16534048G>A	ENST00000270747.3	-	5	979	c.843C>T	c.(841-843)aaC>aaT	p.N281N	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	281					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGCCGCTCGTTGGTGCTCC	0.622																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(841-843)aaC>aaT		Rho guanine nucleotide exchange factor (GEF) 19							57.0	53.0	55.0					1																	16534048		2203	4300	6503	SO:0001819	synonymous_variant	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16534048G>A	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.843C>T	1.37:g.16534048G>A						ARHGEF19_ENST00000421561.1_Silent_p.N281N	p.N281N	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	5	979	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	281					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	ENST00000270747.3	37	c.843C>T	CCDS170.1																																																																																				0.622	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		7	20	0	0	0	1	0	7	20				
TFR2	7036	broad.mit.edu	37	7	100218565	100218565	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100218565C>T	ENST00000462107.1	-	19	2608	c.2321G>A	c.(2320-2322)cGt>cAt	p.R774H	TFR2_ENST00000544242.1_Missense_Mutation_p.R315H|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.R774H			Q9UP52	TFR2_HUMAN	transferrin receptor 2	774					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	GGCTAGCTGACGCCGGAAACG	0.657																																						ENST00000462107.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(2320-2322)cGt>cAt		transferrin receptor 2							31.0	29.0	30.0					7																	100218565		2203	4300	6503	SO:0001583	missense	7036				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity	g.chr7:100218565C>T	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.2321G>A	7.37:g.100218565C>T	ENSP00000420525:p.Arg774His					TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.R774H|TFR2_ENST00000544242.1_Missense_Mutation_p.R315H	p.R774H			Q9UP52	TFR2_HUMAN			19	2608	-	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		774					A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	ENST00000462107.1	37	c.2321G>A	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634411	0.87660	.	.	ENSG00000106327	ENST00000223051;ENST00000462107;ENST00000544242	T;T;T	0.60171	0.21;0.21;0.21	5.54	4.64	0.57946	Transferrin receptor-like, dimerisation domain (3);	0.114726	0.53938	D	0.000050	T	0.61776	0.2374	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.59852	-0.7376	10	0.48119	T	0.1	-12.2735	10.5447	0.45054	0.0:0.9109:0.0:0.0891	.	774	Q9UP52	TFR2_HUMAN	H	774;774;315	ENSP00000223051:R774H;ENSP00000420525:R774H;ENSP00000443656:R315H	ENSP00000223051:R774H	R	-	2	0	TFR2	100056501	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	0.281000	0.18810	2.890000	0.99128	0.650000	0.86243	CGT		0.657	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		10	16	0	0	0	1	0	10	16				
P4HA2	8974	broad.mit.edu	37	5	131544898	131544898	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:131544898C>A	ENST00000401867.1	-	8	1404	c.836G>T	c.(835-837)aGg>aTg	p.R279M	P4HA2_ENST00000166534.4_Missense_Mutation_p.R279M|P4HA2_ENST00000379086.1_Missense_Mutation_p.R279M|P4HA2_ENST00000360568.3_Missense_Mutation_p.R279M|P4HA2_ENST00000379100.2_Missense_Mutation_p.R279M|P4HA2_ENST00000379104.2_Missense_Mutation_p.R279M			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	279					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GTCCACAGGCCTCTCATAGAT	0.512																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(835-837)aGg>aTg		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						230.0	221.0	224.0					5																	131544898		2203	4300	6503	SO:0001583	missense	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131544898C>A	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.836G>T	5.37:g.131544898C>A	ENSP00000384999:p.Arg279Met					P4HA2_ENST00000379086.1_Missense_Mutation_p.R279M|P4HA2_ENST00000379100.2_Missense_Mutation_p.R279M|P4HA2_ENST00000360568.3_Missense_Mutation_p.R279M|P4HA2_ENST00000166534.4_Missense_Mutation_p.R279M|P4HA2_ENST00000379104.2_Missense_Mutation_p.R279M	p.R279M			O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1404	-		all_cancers(142;0.103)|Breast(839;0.198)	279					D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	ENST00000401867.1	37	c.836G>T	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828479	0.90955	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.61009	0.2313	L	0.54323	1.7	0.80722	D	1	D;D	0.54207	0.964;0.965	P;P	0.56474	0.634;0.799	T	0.56739	-0.7929	10	0.40728	T	0.16	-19.5063	19.7739	0.96383	0.0:1.0:0.0:0.0	.	279;279	O15460;O15460-2	P4HA2_HUMAN;.	M	279	ENSP00000384999:R279M;ENSP00000368379:R279M;ENSP00000166534:R279M;ENSP00000353772:R279M;ENSP00000368398:R279M;ENSP00000368394:R279M	ENSP00000166534:R279M	R	-	2	0	P4HA2	131572797	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.552000	0.67281	2.744000	0.94065	0.655000	0.94253	AGG		0.512	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		7	127	1	0	0.00307968	1	0.00311612	7	127				
C3orf20	84077	broad.mit.edu	37	3	14746120	14746120	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:14746120C>T	ENST00000253697.3	+	7	1607	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000412910.1_Silent_p.F263F|C3orf20_ENST00000435614.1_Silent_p.F263F	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	385						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GCTCCTCCTTCGTTTAGTATC	0.463																																						ENST00000253697.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.(1153-1155)ttC>ttT		chromosome 3 open reading frame 20							196.0	177.0	184.0					3																	14746120		2203	4300	6503	SO:0001819	synonymous_variant	84077					cytoplasm|integral to membrane		g.chr3:14746120C>T	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1155C>T	3.37:g.14746120C>T						C3orf20_ENST00000412910.1_Silent_p.F263F|C3orf20_ENST00000435614.1_Silent_p.F263F|C3orf20_ENST00000495387.1_3'UTR	p.F385F	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN			7	1607	+			385					Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	ENST00000253697.3	37	c.1155C>T	CCDS33706.1																																																																																				0.463	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		33	99	0	0	0	1	0	33	99				
MED29	55588	broad.mit.edu	37	19	39879989	39879989	+	5'Flank	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:39879989G>A	ENST00000599213.2	+	0	0				MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000595564.1_Nonsense_Mutation_p.R122*|MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000221266.7_Nonsense_Mutation_p.R122*|PAF1_ENST00000221265.3_Nonsense_Mutation_p.R132*			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCTGTCTTTCGCATCCATGGC	0.542																																						ENST00000221265.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17						c.(394-396)Cga>Tga		Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)							106.0	95.0	98.0					19																	39879989		2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39879989G>A	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39879989G>A	Exception_encountered					PAF1_ENST00000595564.1_Nonsense_Mutation_p.R122*|PAF1_ENST00000221266.7_Nonsense_Mutation_p.R122*	p.R132*	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		6	724	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		132					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Nonsense_Mutation	SNP	ENST00000599213.2	37	c.394C>T		.	.	.	.	.	.	.	.	.	.	g	38	6.653719	0.97739	.	.	ENSG00000006712	ENST00000221265;ENST00000221266;ENST00000416728	.	.	.	5.31	3.08	0.35506	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.611	10.8485	0.46757	0.0:0.0:0.5179:0.4821	.	.	.	.	X	132;122;79	.	ENSP00000221265:R132X	R	-	1	2	PAF1	44571829	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.043000	0.57354	1.435000	0.47434	0.558000	0.71614	CGA		0.542	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		22	54	0	0	0	1	0	22	54				
CABLES1	91768	broad.mit.edu	37	18	20768869	20768869	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:20768869C>T	ENST00000256925.7	+	2	913	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	CABLES1_ENST00000400473.2_5'UTR|CABLES1_ENST00000585061.1_3'UTR|CABLES1_ENST00000420687.2_Missense_Mutation_p.R40W	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	305	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGCCCCTCTCCGGAGGTAATT	0.398																																						ENST00000256925.7																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11						c.(913-915)Cgg>Tgg		Cdk5 and Abl enzyme substrate 1							46.0	44.0	44.0					18																	20768869		1810	4071	5881	SO:0001583	missense	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20768869C>T	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.913C>T	18.37:g.20768869C>T	ENSP00000256925:p.Arg305Trp					CABLES1_ENST00000585061.1_3'UTR|CABLES1_ENST00000420687.2_Missense_Mutation_p.R40W|CABLES1_ENST00000400473.2_5'UTR	p.R305W	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN			2	913	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		305			Interacts with CDK3 (By similarity).		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	37	c.913C>T	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216521	0.95104	.	.	ENSG00000134508	ENST00000256925;ENST00000420687	T;T	0.49139	0.79;0.83	5.66	5.66	0.87406	.	0.113006	0.64402	D	0.000007	T	0.64260	0.2582	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.986;1.0	P;D	0.69654	0.636;0.965	T	0.64769	-0.6329	10	0.72032	D	0.01	-9.8525	19.8141	0.96558	0.0:1.0:0.0:0.0	.	40;305	Q8TDN4-2;Q8TDN4	.;CABL1_HUMAN	W	305;40	ENSP00000256925:R305W;ENSP00000413851:R40W	ENSP00000256925:R305W	R	+	1	2	CABLES1	19022867	0.994000	0.37717	1.000000	0.80357	0.991000	0.79684	2.871000	0.48459	2.697000	0.92050	0.556000	0.70494	CGG		0.398	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		5	15	0	0	0	1	0	5	15				
KCTD8	386617	broad.mit.edu	37	4	44450453	44450453	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:44450453C>T	ENST00000360029.3	-	1	371	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	30					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						gcggcggcggccgacgcgccg	0.687										HNSCC(17;0.042)																												ENST00000360029.3																			0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(88-90)Gcc>Acc		potassium channel tetramerization domain containing 8							9.0	9.0	9.0					4																	44450453		2004	3955	5959	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44450453C>T	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.88G>A	4.37:g.44450453C>T	ENSP00000353129:p.Ala30Thr	HNSCC(17;0.042)					p.A30T	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN			1	371	-			30					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.88G>A	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	C	3.092	-0.186603	0.06340	.	.	ENSG00000183783	ENST00000360029	T	0.38401	1.14	4.15	2.08	0.27032	.	0.932993	0.08828	N	0.887792	T	0.17109	0.0411	N	0.08118	0	0.09310	N	1	B	0.19445	0.036	B	0.14578	0.011	T	0.31806	-0.9930	10	0.11182	T	0.66	.	7.5936	0.28035	0.2321:0.5989:0.1689:0.0	.	30	Q6ZWB6	KCTD8_HUMAN	T	30	ENSP00000353129:A30T	ENSP00000353129:A30T	A	-	1	0	KCTD8	44145210	0.996000	0.38824	0.002000	0.10522	0.262000	0.26303	-0.159000	0.10056	0.163000	0.19507	0.467000	0.42956	GCC		0.687	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			4	4	0	0	0	1	0	4	4				
CROCCP2	84809	broad.mit.edu	37	1	16956572	16956572	+	lincRNA	SNP	G	G	A	rs112034187		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:16956572G>A	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CACTCTCGCTGTCGCTAAGCT	0.642																																						ENST00000412962.1																			0																																																			0							g.chr1:16956572G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16956572G>A														0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.642	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	33	0	0	0	1	0	5	33				
ADCY6	112	broad.mit.edu	37	12	49169815	49169815	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:49169815C>T	ENST00000307885.4	-	8	2431	c.1737G>A	c.(1735-1737)ggG>ggA	p.G579G	ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Silent_p.G579G|ADCY6_ENST00000550422.1_Silent_p.G579G	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	579					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GCGGCATCAGCCCTTCCATGG	0.647																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1735-1737)ggG>ggA		adenylate cyclase 6							50.0	45.0	47.0					12																	49169815		2203	4299	6502	SO:0001819	synonymous_variant	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49169815C>T		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1737G>A	12.37:g.49169815C>T						ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Silent_p.G579G|ADCY6_ENST00000550422.1_Silent_p.G579G	p.G579G	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			8	2431	-			579					Q9NR75|Q9UDB0	Silent	SNP	ENST00000307885.4	37	c.1737G>A	CCDS8767.1																																																																																				0.647	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		8	13	0	0	0	1	0	8	13				
MTMR3	8897	broad.mit.edu	37	22	30416462	30416462	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30416462C>A	ENST00000401950.2	+	17	3156	c.2814C>A	c.(2812-2814)gcC>gcA	p.A938A	MTMR3_ENST00000323630.5_Silent_p.A802A|CTA-85E5.10_ENST00000453743.2_RNA|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Silent_p.A938A|MTMR3_ENST00000333027.3_Silent_p.A938A|MTMR3_ENST00000351488.3_Silent_p.A938A	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	938					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AAAACAGGGCCTCAGAGCAGC	0.587																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(2812-2814)gcC>gcA		myotubularin related protein 3							80.0	73.0	75.0					22																	30416462		2203	4300	6503	SO:0001819	synonymous_variant	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30416462C>A	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2814C>A	22.37:g.30416462C>A						MTMR3_ENST00000351488.3_Silent_p.A938A|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Silent_p.A938A|MTMR3_ENST00000401950.2_Silent_p.A938A|MTMR3_ENST00000323630.5_Silent_p.A802A	p.A938A	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	3142	+			938					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	c.2814C>A	CCDS13870.1																																																																																				0.587	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		20	47	1	0	1.56452e-12	1	1.67209e-12	20	47				
DGKD	8527	broad.mit.edu	37	2	234371288	234371288	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:234371288G>T	ENST00000264057.2	+	26	3105		c.e26-1		DGKD_ENST00000409813.3_Splice_Site	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa						blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GTTTCTTCTAGGGGCTCAACT	0.592																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.e26-1		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)						135.0	140.0	138.0					2																	234371288		2203	4300	6503	SO:0001630	splice_region_variant	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234371288G>T	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.3094-1G>T	2.37:g.234371288G>T						DGKD_ENST00000409813.3_Splice_Site		NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	26	3105	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)						Q14158|Q6PK55|Q8NG53	Splice_Site	SNP	ENST00000264057.2	37		CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410086	0.25465	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	.	.	.	4.08	3.19	0.36642	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3888	0.60811	0.0:0.0:0.8412:0.1588	.	.	.	.	.	-1	.	.	.	+	.	.	DGKD	234036027	1.000000	0.71417	0.970000	0.41538	0.185000	0.23345	9.421000	0.97455	1.042000	0.40150	-0.181000	0.13052	.		0.592	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648	Intron	8	113	1	0	1.26484e-09	1	1.33787e-09	8	113				
MASP1	5648	broad.mit.edu	37	3	186947661	186947661	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:186947661C>T	ENST00000337774.5	-	11	1717	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	443					complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CATCAGCTTCCGGGAGAACTT	0.607																																						ENST00000337774.5																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(1327-1329)cGg>cAg		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							69.0	66.0	67.0					3																	186947661		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186947661C>T	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1328G>A	3.37:g.186947661C>T	ENSP00000336792:p.Arg443Gln						p.R443Q	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	11	1717	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		443					A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.1328G>A	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045752	0.55110	.	.	ENSG00000127241	ENST00000337774	D	0.92858	-3.12	5.7	5.7	0.88788	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	D	0.85212	0.5645	N	0.19112	0.55	0.80722	D	1	B	0.23650	0.089	B	0.15052	0.012	T	0.80439	-0.1382	9	0.12103	T	0.63	.	17.7138	0.88330	0.0:1.0:0.0:0.0	.	443	P48740	MASP1_HUMAN	Q	443	ENSP00000336792:R443Q	ENSP00000336792:R443Q	R	-	2	0	MASP1	188430355	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.939000	0.40213	2.861000	0.98227	0.655000	0.94253	CGG		0.607	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		9	21	0	0	0	1	0	9	21				
TMEM131	23505	broad.mit.edu	37	2	98418415	98418415	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:98418415C>G	ENST00000186436.5	-	25	2889	c.2661G>C	c.(2659-2661)ttG>ttC	p.L887F		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	887						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CCACCTTACTCAAGTTAAACC	0.299																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(2659-2661)ttG>ttC		transmembrane protein 131							81.0	79.0	79.0					2																	98418415		1822	4073	5895	SO:0001583	missense	23505					integral to membrane		g.chr2:98418415C>G	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2661G>C	2.37:g.98418415C>G	ENSP00000186436:p.Leu887Phe						p.L887F	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			25	2889	-			887						Missense_Mutation	SNP	ENST00000186436.5	37	c.2661G>C	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208394	0.58343	.	.	ENSG00000075568	ENST00000186436	T	0.34667	1.35	5.87	4.0	0.46444	.	0.071579	0.56097	D	0.000037	T	0.30727	0.0774	L	0.50333	1.59	0.80722	D	1	P	0.45902	0.868	B	0.42319	0.383	T	0.03503	-1.1030	10	0.33141	T	0.24	-10.2834	7.2626	0.26212	0.1333:0.7226:0.0:0.1442	.	887	Q92545	TM131_HUMAN	F	887	ENSP00000186436:L887F	ENSP00000186436:L887F	L	-	3	2	TMEM131	97784847	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.595000	0.36708	0.752000	0.32923	0.591000	0.81541	TTG		0.299	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		10	15	0	0	0	1	0	10	15				
GMPPB	29925	broad.mit.edu	37	3	49759676	49759676	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:49759676G>A	ENST00000480687.1	-	8	872	c.756C>T	c.(754-756)ggC>ggT	p.G252G	AMIGO3_ENST00000320431.7_5'Flank|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_Silent_p.G252G|GMPPB_ENST00000308388.6_Silent_p.G252G			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	252					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCAGCACGTTGCCCACAATGC	0.602																																						ENST00000480687.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6						c.(754-756)ggC>ggT		GDP-mannose pyrophosphorylase B							67.0	70.0	69.0					3																	49759676		2203	4300	6503	SO:0001819	synonymous_variant	29925				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr3:49759676G>A	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.756C>T	3.37:g.49759676G>A						GMPPB_ENST00000308388.6_Silent_p.G252G|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_Silent_p.G252G	p.G252G			Q9Y5P6	GMPPB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	8	872	-			252					A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	c.756C>T	CCDS2803.1																																																																																				0.602	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		6	46	0	0	0	1	0	6	46				
PRDM10	56980	broad.mit.edu	37	11	129800950	129800950	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:129800950C>T	ENST00000360871.3	-	11	1722	c.1491G>A	c.(1489-1491)acG>acA	p.T497T	PRDM10_ENST00000528746.1_Silent_p.T471T|PRDM10_ENST00000423662.2_Silent_p.T411T|PRDM10_ENST00000526082.1_Silent_p.T411T|PRDM10_ENST00000358825.5_Silent_p.T497T|PRDM10_ENST00000304538.6_Silent_p.T411T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGGCTGTCAGCGTGCTCTGGG	0.622																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(1489-1491)acG>acA		PR domain containing 10							142.0	131.0	135.0					11																	129800950		2201	4297	6498	SO:0001819	synonymous_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129800950C>T	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1491G>A	11.37:g.129800950C>T						PRDM10_ENST00000423662.2_Silent_p.T411T|PRDM10_ENST00000528746.1_Silent_p.T471T|PRDM10_ENST00000526082.1_Silent_p.T411T|PRDM10_ENST00000304538.6_Silent_p.T411T|PRDM10_ENST00000360871.3_Silent_p.T497T	p.T497T	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	11	1722	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	497					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	c.1491G>A	CCDS8484.1																																																																																				0.622	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		14	56	0	0	0	1	0	14	56				
DOT1L	84444	broad.mit.edu	37	19	2222180	2222180	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:2222180C>T	ENST00000398665.3	+	24	3048	c.3012C>T	c.(3010-3012)caC>caT	p.H1004H		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1004					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCGCCCACCAGCTCTCCT	0.701																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(3010-3012)caC>caT		DOT1-like histone H3K79 methyltransferase							31.0	41.0	38.0					19																	2222180		2007	4144	6151	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2222180C>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3012C>T	19.37:g.2222180C>T							p.H1004H	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	24	3048	+		Hepatocellular(1079;0.137)	1004					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.3012C>T	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	3.858	-0.030518	0.07543	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.43	1.01	0.19927	.	.	.	.	.	T	0.42787	0.1218	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24657	-1.0154	4	.	.	.	-17.6956	1.9619	0.03387	0.1345:0.4887:0.1316:0.2452	.	.	.	.	I	791	.	.	T	+	2	0	DOT1L	2173180	0.989000	0.36119	0.969000	0.41365	0.403000	0.30841	0.118000	0.15605	0.331000	0.23511	0.462000	0.41574	ACC		0.701	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		12	16	0	0	0	1	0	12	16				
ITPR1	3708	broad.mit.edu	37	3	4847908	4847908	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:4847908G>A	ENST00000443694.2	+	52	7184	c.7184G>A	c.(7183-7185)tGt>tAt	p.C2395Y	ITPR1_ENST00000302640.8_Missense_Mutation_p.C2395Y|ITPR1_ENST00000423119.2_Missense_Mutation_p.C2362Y|ITPR1_ENST00000544951.1_Missense_Mutation_p.C373Y|ITPR1_ENST00000357086.4_Missense_Mutation_p.C2362Y|ITPR1_ENST00000354582.6_Missense_Mutation_p.C2395Y|ITPR1_ENST00000456211.2_Missense_Mutation_p.C2347Y|ITPR1_ENST00000463980.1_3'UTR			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2410					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CTGGTGATCTGTGCCATGGGG	0.463																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(7183-7185)tGt>tAt		inositol 1,4,5-trisphosphate receptor, type 1							167.0	156.0	159.0					3																	4847908		1950	4155	6105	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4847908G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7184G>A	3.37:g.4847908G>A	ENSP00000401671:p.Cys2395Tyr					ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000357086.4_Missense_Mutation_p.C2362Y|ITPR1_ENST00000544951.1_Missense_Mutation_p.C373Y|ITPR1_ENST00000443694.2_Missense_Mutation_p.C2395Y|ITPR1_ENST00000456211.2_Missense_Mutation_p.C2347Y|ITPR1_ENST00000354582.6_Missense_Mutation_p.C2395Y|ITPR1_ENST00000423119.2_Missense_Mutation_p.C2362Y	p.C2395Y	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	54	7534	+			2410					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.7184G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636955	0.87760	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98264	-2.9;-2.91;-2.91;-2.91;-2.91;-4.83;-2.9	5.07	5.07	0.68467	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99017	0.9664	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.80764	0.994;0.99;0.968	D	0.99806	1.1038	10	0.87932	D	0	.	18.8154	0.92075	0.0:0.0:1.0:0.0	.	373;2410;2362	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	Y	2410;2395;2395;2362;856;2362;2347;373;2395	ENSP00000306253:C2395Y;ENSP00000346595:C2395Y;ENSP00000405934:C2362Y;ENSP00000349597:C2362Y;ENSP00000397885:C2347Y;ENSP00000440564:C373Y;ENSP00000401671:C2395Y	ENSP00000306253:C2395Y	C	+	2	0	ITPR1	4822908	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	9.710000	0.98732	2.517000	0.84864	0.591000	0.81541	TGT		0.463	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		12	37	0	0	0	1	0	12	37				
GLTSCR1L	23506	broad.mit.edu	37	6	42832714	42832714	+	Missense_Mutation	SNP	C	C	T	rs575050000		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:42832714C>T	ENST00000314073.5	+	13	2946	c.2770C>T	c.(2770-2772)Cgg>Tgg	p.R924W	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.R924W			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	924																	GAAGGCCAGCCGGAGAGAGCC	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		19163	0.0		0.0	False		,,,				2504	0.001					ENST00000314073.5																			0											c.(2770-2772)Cgg>Tgg		GLTSCR1-like							46.0	47.0	47.0					6																	42832714		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42832714C>T	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2770C>T	6.37:g.42832714C>T	ENSP00000313933:p.Arg924Trp					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.R924W	p.R924W							13	2946	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.2770C>T	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677668	0.68042	.	.	ENSG00000112624	ENST00000394167;ENST00000314073;ENST00000394168	T;T	0.49139	0.79;0.79	5.34	3.45	0.39498	.	0.348813	0.26119	N	0.026233	T	0.17619	0.0423	L	0.27053	0.805	0.28239	N	0.925787	D	0.60160	0.987	B	0.43783	0.431	T	0.20605	-1.0270	10	0.62326	D	0.03	-8.4964	3.9461	0.09349	0.1312:0.5109:0.2671:0.0908	.	924	Q6AI39	K0240_HUMAN	W	924	ENSP00000313933:R924W;ENSP00000377723:R924W	ENSP00000313933:R924W	R	+	1	2	KIAA0240	42940692	0.950000	0.32346	0.972000	0.41901	0.980000	0.70556	1.411000	0.34702	2.651000	0.90000	0.650000	0.86243	CGG		0.517	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		6	34	0	0	0	1	0	6	34				
CCDC109B	55013	broad.mit.edu	37	4	110608693	110608693	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:110608693C>T	ENST00000394650.4	+	8	1089	c.956C>T	c.(955-957)gCg>gTg	p.A319V	CASP6_ENST00000510324.1_5'Flank	NM_017918.4	NP_060388.2	Q9NWR8	MCUB_HUMAN	coiled-coil domain containing 109B	319					mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of membrane (GO:0031224)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium channel inhibitor activity (GO:0019855)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		CTGAAACAGGCGCGTCATTCT	0.348																																						ENST00000394650.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9						c.(955-957)gCg>gTg		coiled-coil domain containing 109B							98.0	99.0	99.0					4																	110608693		2203	4300	6503	SO:0001583	missense	55013					integral to membrane		g.chr4:110608693C>T	BC002633	CCDS3683.2	4q25	2011-05-24			ENSG00000005059	ENSG00000005059			26076	protein-coding gene	gene with protein product						12477932	Standard	NM_017918		Approved	FLJ20647	uc011cfs.2	Q9NWR8	OTTHUMG00000161103	ENST00000394650.4:c.956C>T	4.37:g.110608693C>T	ENSP00000378145:p.Ala319Val						p.A319V	NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)	8	1089	+			319					A8K4Y3|Q6IAC1	Missense_Mutation	SNP	ENST00000394650.4	37	c.956C>T	CCDS3683.2	.	.	.	.	.	.	.	.	.	.	C	7.713	0.695583	0.15106	.	.	ENSG00000005059	ENST00000394650	T	0.20738	2.05	5.21	1.27	0.21489	.	0.261923	0.31358	N	0.007800	T	0.05547	0.0146	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35101	-0.9802	10	0.23302	T	0.38	-5.4866	4.8697	0.13625	0.1357:0.149:0.0:0.7153	.	319	Q9NWR8	C109B_HUMAN	V	319	ENSP00000378145:A319V	ENSP00000378145:A319V	A	+	2	0	CCDC109B	110828142	0.830000	0.29337	0.002000	0.10522	0.022000	0.10575	2.327000	0.43858	0.049000	0.15920	-1.279000	0.01387	GCG		0.348	CCDC109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254865.1	NM_017918		9	24	0	0	0	1	0	9	24				
PLOD1	5351	broad.mit.edu	37	1	12017970	12017970	+	Silent	SNP	C	C	T	rs373471550		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:12017970C>T	ENST00000196061.4	+	8	840	c.813C>T	c.(811-813)gaC>gaT	p.D271D	PLOD1_ENST00000376369.3_Silent_p.D318D|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	271					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	CCGTGTGTGACGAAGGCTTGC	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		18168	0.0		0.0	False		,,,				2504	0.001					ENST00000196061.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(811-813)gaC>gaT		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	C		1,4405	2.1+/-5.4	0,1,2202	85.0	79.0	81.0		813	-7.8	0.7	1		81	0,8600		0,0,4300	no	coding-synonymous	PLOD1	NM_000302.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		271/728	12017970	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12017970C>T	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.813C>T	1.37:g.12017970C>T						PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Silent_p.D318D	p.D271D	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	8	840	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	271					B4DR87|Q96AV9|Q9H132	Silent	SNP	ENST00000196061.4	37	c.813C>T	CCDS142.1																																																																																				0.632	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		29	34	0	0	0	1	0	29	34				
GPRC5B	51704	broad.mit.edu	37	16	19883185	19883185	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:19883185C>A	ENST00000300571.2	-	2	1174	c.983G>T	c.(982-984)cGg>cTg	p.R328L	GPRC5B_ENST00000569479.1_Missense_Mutation_p.R328L|GPRC5B_ENST00000537135.1_Missense_Mutation_p.R354L|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R328L|GPRC5B_ENST00000569847.1_Missense_Mutation_p.R328L	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	328					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CATATAGGCCCGCGGCAGCTG	0.607																																						ENST00000300571.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(982-984)cGg>cTg		G protein-coupled receptor, family C, group 5, member B							78.0	75.0	76.0					16																	19883185		2197	4300	6497	SO:0001583	missense	0							g.chr16:19883185C>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.983G>T	16.37:g.19883185C>A	ENSP00000300571:p.Arg328Leu					GPRC5B_ENST00000537135.1_Missense_Mutation_p.R354L|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R328L|GPRC5B_ENST00000569847.1_Missense_Mutation_p.R328L|GPRC5B_ENST00000569479.1_Missense_Mutation_p.R328L	p.R328L	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN			2	1174	-			328					D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.983G>T	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446752	0.84101	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.30981	1.53;1.52;1.51	5.18	5.18	0.71444	.	0.727526	0.13189	N	0.406857	T	0.51975	0.1706	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	D;D	0.76071	0.947;0.987	T	0.33879	-0.9851	9	.	.	.	.	17.8587	0.88775	0.0:1.0:0.0:0.0	.	354;328	B7Z831;Q9NZH0	.;GPC5B_HUMAN	L	328;328;177;354	ENSP00000300571:R328L;ENSP00000442858:R328L;ENSP00000441775:R354L	.	R	-	2	0	GPRC5B	19790686	0.998000	0.40836	0.714000	0.30535	0.975000	0.68041	3.152000	0.50677	2.688000	0.91661	0.655000	0.94253	CGG		0.607	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			5	60	1	0	3.59834e-05	1	3.70672e-05	5	60				
BTAF1	9044	broad.mit.edu	37	10	93768864	93768864	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:93768864G>A	ENST00000265990.6	+	28	4310	c.4002G>A	c.(4000-4002)ccG>ccA	p.P1334P	BTAF1_ENST00000544642.1_Silent_p.P162P	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1334	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P1334P(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGGTTTGTCCGCCAACATTAA	0.408																																						ENST00000265990.6																			1	Substitution - coding silent(1)	p.P1334P(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(4000-4002)ccG>ccA		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							115.0	103.0	107.0					10																	93768864		2203	4300	6503	SO:0001819	synonymous_variant	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93768864G>A	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.4002G>A	10.37:g.93768864G>A						BTAF1_ENST00000544642.1_Silent_p.P162P	p.P1334P	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			28	4310	+		Colorectal(252;0.0846)	1334			Helicase ATP-binding.		B4E0W6|O43578	Silent	SNP	ENST00000265990.6	37	c.4002G>A	CCDS7419.1																																																																																				0.408	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		21	47	0	0	0	1	0	21	47				
B3GALT5	10317	broad.mit.edu	37	21	41033216	41033216	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr21:41033216G>A	ENST00000380620.4	+	5	1322	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	B3GALT5_ENST00000398714.2_Missense_Mutation_p.V244M|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.V244M|B3GALT5_ENST00000380618.1_Missense_Mutation_p.V244M			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	244					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				ACTGGAAGACGTGTTTGTGGG	0.557																																						ENST00000380620.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16						c.(730-732)Gtg>Atg		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5							93.0	93.0	93.0					21																	41033216		2203	4300	6503	SO:0001583	missense	10317				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr21:41033216G>A	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.730G>A	21.37:g.41033216G>A	ENSP00000369994:p.Val244Met					B3GALT5_ENST00000380618.1_Missense_Mutation_p.V244M|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000398714.2_Missense_Mutation_p.V244M|B3GALT5_ENST00000343118.4_Missense_Mutation_p.V244M	p.V244M			Q9Y2C3	B3GT5_HUMAN			5	1322	+		Prostate(19;2.55e-06)	244					A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	c.730G>A	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826611	0.71143	.	.	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	5.64	5.64	0.86602	.	0.000000	0.52532	D	0.000076	D	0.94578	0.8253	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95303	0.8405	10	0.87932	D	0	.	19.7174	0.96129	0.0:0.0:1.0:0.0	.	244	Q9Y2C3	B3GT5_HUMAN	M	244	ENSP00000369994:V244M;ENSP00000369992:V244M;ENSP00000343318:V244M;ENSP00000381699:V244M	ENSP00000343318:V244M	V	+	1	0	B3GALT5	39955086	1.000000	0.71417	0.661000	0.29709	0.137000	0.21094	9.661000	0.98601	2.653000	0.90120	0.655000	0.94253	GTG		0.557	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		26	56	0	0	0	1	0	26	56				
S100A4	6275	broad.mit.edu	37	1	153516337	153516337	+	Silent	SNP	G	G	A	rs111468775	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:153516337G>A	ENST00000368716.4	-	3	351	c.204C>T	c.(202-204)aaC>aaT	p.N68N	S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000368714.1_Silent_p.N68N|S100A4_ENST00000368715.1_Silent_p.N68N|S100A5_ENST00000368718.1_5'Flank|S100A5_ENST00000359215.1_5'Flank|S100A4_ENST00000354332.4_Silent_p.N68N	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	68	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				epithelial to mesenchymal transition (GO:0001837)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Trifluoperazine(DB00831)	AGTCCACCTCGTTGTCCCTGT	0.483													G|||	4	0.000798722	0.0023	0.0	5008	,	,		19980	0.001		0.0	False		,,,				2504	0.0					ENST00000368716.4																			0				large_intestine(2)|lung(1)|prostate(1)	4						c.(202-204)aaC>aaT		S100 calcium binding protein A4		G	,	9,4397	15.5+/-35.6	0,9,2194	243.0	219.0	227.0		204,204	-0.7	1.0	1	dbSNP_132	227	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	S100A4	NM_002961.2,NM_019554.2	,	0,10,6493	AA,AG,GG		0.0116,0.2043,0.0769	,	68/102,68/102	153516337	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	6275				epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus|perinuclear region of cytoplasm	calcium ion binding|RAGE receptor binding	g.chr1:153516337G>A	BC016300	CCDS1042.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000196154	ENSG00000196154		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10494	protein-coding gene	gene with protein product	"""fibroblast-specific protein-1"""	114210	"""S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"", ""S100 calcium binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"""	MTS1, CAPL		3155863	Standard	NM_019554		Approved	P9KA, 18A2, PEL98, 42A, FSP1	uc001fbz.3	P26447	OTTHUMG00000013546	ENST00000368716.4:c.204C>T	1.37:g.153516337G>A						S100A4_ENST00000368715.1_Silent_p.N68N|S100A4_ENST00000368714.1_Silent_p.N68N|S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000354332.4_Silent_p.N68N	p.N68N	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	351	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		68			EF-hand 2.		A8K7R8|D3DV46|Q6ICP8	Silent	SNP	ENST00000368716.4	37	c.204C>T	CCDS1042.1																																																																																				0.483	S100A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037714.1	NM_002961		14	128	0	0	0	1	0	14	128				
KSR1	8844	broad.mit.edu	37	17	25944348	25944348	+	Missense_Mutation	SNP	G	G	A	rs560099866	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:25944348G>A	ENST00000319524.6	+	20	2587	c.2587G>A	c.(2587-2589)Gac>Aac	p.D863N	KSR1_ENST00000268763.6_Missense_Mutation_p.D726N|KSR1_ENST00000509603.2_Missense_Mutation_p.D841N|KSR1_ENST00000582410.1_Missense_Mutation_p.D77N|KSR1_ENST00000398988.3_Missense_Mutation_p.D726N			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	863	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTGGGCTTTCGACCTGCAGGA	0.607													G|||	2	0.000399361	0.0	0.0	5008	,	,		17876	0.002		0.0	False		,,,				2504	0.0				Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(2176-2178)Gac>Aac		kinase suppressor of ras 1							32.0	34.0	33.0					17																	25944348		2011	4157	6168	SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25944348G>A	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.2587G>A	17.37:g.25944348G>A	ENSP00000323178:p.Asp863Asn					KSR1_ENST00000268763.6_Missense_Mutation_p.D726N|KSR1_ENST00000582410.1_Missense_Mutation_p.D77N|KSR1_ENST00000319524.6_Missense_Mutation_p.D863N|KSR1_ENST00000509603.2_Missense_Mutation_p.D841N	p.D726N	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	21	2621	+	Lung NSC(42;0.00836)		861			Protein kinase.		F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.2176G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.86|12.86	2.065225|2.065225	0.36470|0.36470	.|.	.|.	ENSG00000141068|ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982|ENST00000398988	T;T;T|.	0.48522|.	0.81;0.81;0.81|.	5.32|5.32	4.35|4.35	0.52113|0.52113	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.096478|.	0.64402|.	N|.	0.000001|.	T|T	0.39733|0.39733	0.1089|0.1089	N|N	0.11724|0.11724	0.165|0.165	0.45852|0.45852	D|D	0.998711|0.998711	B;B|.	0.24258|.	0.1;0.019|.	B;B|.	0.19148|.	0.024;0.012|.	T|T	0.11616|0.11616	-1.0580|-1.0580	10|5	0.22109|.	T|.	0.4|.	.|.	14.1505|14.1505	0.65381|0.65381	0.1411:0.0:0.8589:0.0|0.1411:0.0:0.8589:0.0	.|.	861;841|.	Q8IVT5;F5H0K8|.	KSR1_HUMAN;.|.	N|Q	863;841;726;726|576	ENSP00000323178:D863N;ENSP00000438795:D841N;ENSP00000268763:D726N|.	ENSP00000268763:D726N|.	D|R	+|+	1|2	0|0	KSR1|KSR1	22968475|22968475	1.000000|1.000000	0.71417|0.71417	0.663000|0.663000	0.29738|0.29738	0.896000|0.896000	0.52359|0.52359	3.405000|3.405000	0.52630|0.52630	0.643000|0.643000	0.30638|0.30638	-1.151000|-1.151000	0.01829|0.01829	GAC|CGA		0.607	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		4	17	0	0	0	1	0	4	17				
GIGYF1	64599	broad.mit.edu	37	7	100284287	100284287	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100284287G>A	ENST00000275732.5	-	7	1888	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	227					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTGGCGGAGCGCCAGCGGTCG	0.687																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(679-681)Cgc>Tgc		GRB10 interacting GYF protein 1							29.0	36.0	34.0					7																	100284287		2194	4281	6475	SO:0001583	missense	64599							g.chr7:100284287G>A	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.679C>T	7.37:g.100284287G>A	ENSP00000275732:p.Arg227Cys					GIGYF1_ENST00000471340.2_Intron	p.R227C	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			7	1888	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		227					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.679C>T	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	17.90	3.501457	0.64298	.	.	ENSG00000146830	ENST00000275732	D	0.84370	-1.84	4.96	4.96	0.65561	.	0.262105	0.33813	N	0.004525	D	0.83096	0.5180	L	0.32530	0.975	0.58432	D	0.999997	D	0.76494	0.999	P	0.53360	0.724	T	0.83107	-0.0125	10	0.49607	T	0.09	-15.1933	10.7376	0.46135	0.0:0.0:0.8103:0.1897	.	227	O75420	PERQ1_HUMAN	C	227	ENSP00000275732:R227C	ENSP00000275732:R227C	R	-	1	0	GIGYF1	100122223	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	3.913000	0.56394	2.571000	0.86741	0.563000	0.77884	CGC		0.687	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		27	47	0	0	0	1	0	27	47				
SLC16A7	9194	broad.mit.edu	37	12	60098741	60098741	+	Silent	SNP	T	T	C	rs376184979		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:60098741T>C	ENST00000261187.4	+	2	323	c.159T>C	c.(157-159)acT>acC	p.T53T	SLC16A7_ENST00000552024.1_Silent_p.T53T|SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000549588.1_3'UTR|SLC16A7_ENST00000549465.1_Silent_p.T53T|SLC16A7_ENST00000547379.1_Silent_p.T53T|SLC16A7_ENST00000552432.1_Silent_p.T53T	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	53					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TATTCCACACTACCTACAGTG	0.383																																						ENST00000261187.4																			0				endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30						c.(157-159)acT>acC		solute carrier family 16 (monocarboxylate transporter), member 7	Pyruvic acid(DB00119)						110.0	104.0	106.0					12																	60098741		2203	4300	6503	SO:0001819	synonymous_variant	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60098741T>C	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.159T>C	12.37:g.60098741T>C						SLC16A7_ENST00000552432.1_Silent_p.T53T|SLC16A7_ENST00000547379.1_Silent_p.T53T|SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000549588.1_3'UTR|SLC16A7_ENST00000552024.1_Silent_p.T53T|SLC16A7_ENST00000549465.1_Silent_p.T53T	p.T53T	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	2	323	+			53					Q8NEM3|Q9UPB3	Silent	SNP	ENST00000261187.4	37	c.159T>C	CCDS8961.1																																																																																				0.383	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		24	46	0	0	0	1	0	24	46				
KLHL36	79786	broad.mit.edu	37	16	84690912	84690912	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:84690912A>G	ENST00000564996.1	+	3	640	c.499A>G	c.(499-501)Atc>Gtc	p.I167V	KLHL36_ENST00000258157.5_Missense_Mutation_p.I167V	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	167	BACK.				protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGATGCCTTCATCGATGGCTT	0.567																																						ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(499-501)Atc>Gtc		kelch-like family member 36							93.0	76.0	82.0					16																	84690912		2199	4300	6499	SO:0001583	missense	79786							g.chr16:84690912A>G	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.499A>G	16.37:g.84690912A>G	ENSP00000456743:p.Ile167Val					KLHL36_ENST00000258157.5_Missense_Mutation_p.I167V	p.I167V	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			3	640	+			167			BACK.		Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	c.499A>G	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	A	0.431	-0.903431	0.02453	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.67523	-0.27	5.66	2.23	0.28157	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	N	0.24115	0.695	0.53688	D	0.999977	B;B	0.15930	0.015;0.0	B;B	0.16289	0.015;0.006	T	0.11591	-1.0581	10	0.19147	T	0.46	.	6.3315	0.21272	0.7258:0.134:0.1401:0.0	.	167;167	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	V	167	ENSP00000258157:I167V	ENSP00000258157:I167V	I	+	1	0	KLHL36	83248413	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	2.081000	0.41596	0.101000	0.17610	-0.371000	0.07208	ATC		0.567	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			8	49	0	0	0	1	0	8	49				
PLEKHM1	9842	broad.mit.edu	37	17	43515294	43515294	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:43515294G>A	ENST00000430334.3	-	12	3234	c.3101C>T	c.(3100-3102)gCt>gTt	p.A1034V	PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A945V	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	1034					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CTTCACCACAGCCTGGCAGCT	0.647																																						ENST00000430334.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(3100-3102)gCt>gTt		pleckstrin homology domain containing, family M (with RUN domain) member 1							52.0	51.0	51.0					17																	43515294		2203	4300	6503	SO:0001583	missense	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43515294G>A	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.3101C>T	17.37:g.43515294G>A	ENSP00000389913:p.Ala1034Val					PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A945V	p.A1034V	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN			12	3234	-	Renal(3;0.0405)		1034					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	c.3101C>T	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059471	0.76074	.	.	ENSG00000225190	ENST00000430334;ENST00000421073	T;T	0.64991	-0.12;-0.13	4.67	3.68	0.42216	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.355818	0.27705	N	0.018189	T	0.51058	0.1652	L	0.42245	1.32	0.41243	D	0.986654	P;P	0.38223	0.57;0.623	B;B	0.35550	0.197;0.205	T	0.49872	-0.8893	10	0.32370	T	0.25	.	12.0837	0.53686	0.0:0.0:0.8274:0.1726	.	945;1034	F8W648;Q9Y4G2	.;PKHM1_HUMAN	V	1034;945	ENSP00000389913:A1034V;ENSP00000414352:A945V	ENSP00000414352:A945V	A	-	2	0	PLEKHM1	40871077	0.216000	0.23585	0.979000	0.43373	0.992000	0.81027	3.071000	0.50041	1.159000	0.42565	0.558000	0.71614	GCT		0.647	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		4	22	0	0	0	1	0	4	22				
SPARC	6678	broad.mit.edu	37	5	151046004	151046004	+	Missense_Mutation	SNP	G	G	A	rs150910656		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:151046004G>A	ENST00000231061.4	-	8	965	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	SPARC_ENST00000537849.1_5'UTR	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	218					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		TCGAAGTCCCGGGCCAGCAGC	0.562																																						ENST00000231061.4																			0				central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15						c.(652-654)Cgg>Tgg		secreted protein, acidic, cysteine-rich (osteonectin)	Becaplermin(DB00102)	G	TRP/ARG	0,4406		0,0,2203	67.0	63.0	64.0		652	5.6	1.0	5	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPARC	NM_003118.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	218/304	151046004	1,13005	2203	4300	6503	SO:0001583	missense	6678				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	g.chr5:151046004G>A		CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"""cysteine-rich protein"", ""osteonectin"""	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.652C>T	5.37:g.151046004G>A	ENSP00000231061:p.Arg218Trp					SPARC_ENST00000537849.1_5'UTR	p.R218W	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	8	965	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	218					D3DQH9|Q6IBK4	Missense_Mutation	SNP	ENST00000231061.4	37	c.652C>T	CCDS4318.1	.	.	.	.	.	.	.	.	.	.	G	35	5.501773	0.96371	0.0	1.16E-4	ENSG00000113140	ENST00000231061;ENST00000538026	T	0.26810	1.71	5.64	5.64	0.86602	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.169399	0.53938	D	0.000052	T	0.49898	0.1584	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	P	0.60173	0.87	T	0.50742	-0.8792	10	0.87932	D	0	-16.1546	19.698	0.96034	0.0:0.0:1.0:0.0	.	218	P09486	SPRC_HUMAN	W	218;127	ENSP00000231061:R218W	ENSP00000231061:R218W	R	-	1	2	SPARC	151026197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.332000	0.79203	2.652000	0.90054	0.655000	0.94253	CGG		0.562	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	NM_003118		11	29	0	0	0	1	0	11	29				
C19orf25	148223	broad.mit.edu	37	19	1482438	1482438	+	5'Flank	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:1482438G>A	ENST00000436106.2	-	0	0				CTB-25B13.6_ENST00000585643.1_RNA|PCSK4_ENST00000300954.5_Missense_Mutation_p.T578M			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCTCGGCCGTCCCATAGAG	0.682																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1732-1734)aCg>aTg		proprotein convertase subtilisin/kexin type 4							35.0	38.0	37.0					19																	1482438		2203	4300	6503	SO:0001631	upstream_gene_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1482438G>A	AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092		19.37:g.1482438G>A	Exception_encountered						p.T578M	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1794	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	578					B3KQN6|Q8N9R7|Q8WV94	Missense_Mutation	SNP	ENST00000436106.2	37	c.1733C>T	CCDS45898.1	.	.	.	.	.	.	.	.	.	.	g	16.38	3.108069	0.56291	.	.	ENSG00000115257	ENST00000300954	T	0.66815	-0.23	4.33	4.33	0.51752	Galactose-binding domain-like (1);	0.099074	0.41500	D	0.000874	T	0.69433	0.3110	L	0.54323	1.7	0.43637	D	0.996033	D	0.69078	0.997	P	0.51866	0.682	T	0.74147	-0.3759	10	0.87932	D	0	.	12.6619	0.56820	0.0:0.0:1.0:0.0	.	578	Q6UW60	PCSK4_HUMAN	M	578	ENSP00000300954:T578M	ENSP00000300954:T578M	T	-	2	0	PCSK4	1433438	0.998000	0.40836	0.895000	0.35142	0.338000	0.28826	4.667000	0.61561	2.125000	0.65367	0.457000	0.33378	ACG		0.682	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449694.1	NM_152482		13	18	0	0	0	1	0	13	18				
SCARF1	8578	broad.mit.edu	37	17	1543259	1543259	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:1543259G>T	ENST00000263071.4	-	6	1135	c.1086C>A	c.(1084-1086)tcC>tcA	p.S362S	SCARF1_ENST00000574545.1_5'Flank|SCARF1_ENST00000571272.1_Silent_p.S362S|SCARF1_ENST00000348987.3_Intron	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	362	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGTATCACAGGACCCCTGAA	0.642																																						ENST00000263071.4																			0				cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1084-1086)tcC>tcA		scavenger receptor class F, member 1							70.0	72.0	71.0					17																	1543259		2203	4300	6503	SO:0001819	synonymous_variant	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1543259G>T	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1086C>A	17.37:g.1543259G>T						SCARF1_ENST00000571272.1_Silent_p.S362S|SCARF1_ENST00000348987.3_Intron	p.S362S	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	6	1135	-			362			EGF-like 6.		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Silent	SNP	ENST00000263071.4	37	c.1086C>A	CCDS11007.1																																																																																				0.642	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		7	35	1	0	2.7689e-08	1	2.90479e-08	7	35				
UNC5D	137970	broad.mit.edu	37	8	35425622	35425622	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:35425622A>G	ENST00000404895.2	+	3	657	c.329A>G	c.(328-330)aAg>aGg	p.K110R	UNC5D_ENST00000453357.2_Missense_Mutation_p.K105R|UNC5D_ENST00000416672.1_Missense_Mutation_p.K110R|UNC5D_ENST00000287272.2_Missense_Mutation_p.K110R|UNC5D_ENST00000420357.1_Missense_Mutation_p.K110R	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	110	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCAGGTTTGAAGGTCCGCGAA	0.463																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(328-330)aAg>aGg		unc-5 homolog D (C. elegans)							163.0	166.0	165.0					8																	35425622		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35425622A>G	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.329A>G	8.37:g.35425622A>G	ENSP00000385143:p.Lys110Arg					UNC5D_ENST00000416672.1_Missense_Mutation_p.K110R|UNC5D_ENST00000453357.2_Missense_Mutation_p.K105R|UNC5D_ENST00000404895.2_Missense_Mutation_p.K110R|UNC5D_ENST00000420357.1_Missense_Mutation_p.K110R	p.K110R			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	3	349	+			110			Ig-like.		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.329A>G	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	A	11.21	1.572314	0.28092	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	5.16	5.16	0.70880	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	N	0.03050	-0.425	0.80722	D	1	D;D	0.71674	0.998;0.993	D;P	0.77557	0.99;0.866	T	0.27123	-1.0083	10	0.09084	T	0.74	-23.6189	15.2986	0.73928	1.0:0.0:0.0:0.0	.	105;110	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	R	110;110;110;110;105	ENSP00000385143:K110R;ENSP00000392739:K110R;ENSP00000287272:K110R;ENSP00000412652:K110R;ENSP00000394303:K105R	ENSP00000287272:K110R	K	+	2	0	UNC5D	35545164	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	3.358000	0.52284	2.070000	0.61991	0.533000	0.62120	AAG		0.463	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			11	131	0	0	0	1	0	11	131				
SPECC1	92521	broad.mit.edu	37	17	20160892	20160892	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:20160892C>T	ENST00000261503.5	+	11	2860	c.2809C>T	c.(2809-2811)Cgg>Tgg	p.R937W	SPECC1_ENST00000395527.4_Missense_Mutation_p.R937W|SPECC1_ENST00000395530.2_Missense_Mutation_p.R856W|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Missense_Mutation_p.R277W	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	937					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TGCTTCCACCCGGGCATGGAA	0.502																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(2566-2568)Cgg>Tgg		sperm antigen with calponin homology and coiled-coil domains 1							50.0	50.0	50.0					17																	20160892		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20160892C>T	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2809C>T	17.37:g.20160892C>T	ENSP00000261503:p.Arg937Trp					SPECC1_ENST00000395527.4_Missense_Mutation_p.R937W|SPECC1_ENST00000536879.1_Missense_Mutation_p.R277W|SPECC1_ENST00000261503.5_Missense_Mutation_p.R937W|AC004702.2_ENST00000580225.1_lincRNA	p.R856W	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	9	2774	+			937					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.2566C>T	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	C	8.204	0.798732	0.16397	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000536879;ENST00000395527	T;D	0.94687	-0.09;-3.49	4.66	-0.0195	0.13959	.	0.647548	0.16262	N	0.222218	D	0.85517	0.5715	N	0.08118	0	0.09310	N	1	P;D;P	0.58620	0.738;0.983;0.738	P;P;B	0.45712	0.462;0.491;0.39	T	0.79831	-0.1637	10	0.56958	D	0.05	-11.3215	4.1863	0.10400	0.3263:0.1688:0.5049:0.0	.	937;856;937	A8MV89;Q5M775-4;Q5M775	.;.;CYTSB_HUMAN	W	937;937;277;856	ENSP00000261503:R937W;ENSP00000438294:R277W	ENSP00000261503:R937W	R	+	1	2	SPECC1	20101484	0.252000	0.23972	0.002000	0.10522	0.000000	0.00434	0.425000	0.21346	-0.028000	0.13850	-1.763000	0.00667	CGG		0.502	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		16	23	0	0	0	1	0	16	23				
SLC38A10	124565	broad.mit.edu	37	17	79225307	79225307	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:79225307G>A	ENST00000374759.3	-	14	2434	c.2051C>T	c.(2050-2052)gCc>gTc	p.A684V	SLC38A10_ENST00000288439.5_Missense_Mutation_p.A684V	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	684					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CAGCTGGCTGGCCGCCTGGTT	0.736																																						ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2050-2052)gCc>gTc		solute carrier family 38, member 10							8.0	11.0	10.0					17																	79225307		2152	4229	6381	SO:0001583	missense	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79225307G>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2051C>T	17.37:g.79225307G>A	ENSP00000363891:p.Ala684Val					SLC38A10_ENST00000288439.5_Missense_Mutation_p.A684V	p.A684V	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		14	2434	-	all_neural(118;0.0804)|Melanoma(429;0.242)		684					Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	c.2051C>T	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	G	6.030	0.373844	0.11409	.	.	ENSG00000157637	ENST00000374759;ENST00000540966;ENST00000288439	T;T;T	0.47528	3.05;0.84;2.66	3.49	1.44	0.22558	.	29.907000	0.00166	N	0.000000	T	0.29355	0.0731	N	0.14661	0.345	0.09310	N	1	B;P	0.42827	0.187;0.791	B;B	0.38378	0.025;0.272	T	0.19128	-1.0315	10	0.49607	T	0.09	-15.4747	1.2633	0.02006	0.2052:0.4123:0.2233:0.1592	.	684;684	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	V	684;62;684	ENSP00000363891:A684V;ENSP00000437601:A62V;ENSP00000288439:A684V	ENSP00000288439:A684V	A	-	2	0	SLC38A10	76839902	0.855000	0.29742	0.163000	0.22734	0.057000	0.15508	0.443000	0.21644	0.285000	0.22329	-0.397000	0.06425	GCC		0.736	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		3	12	0	0	0	1	0	3	12				
CENPT	80152	broad.mit.edu	37	16	67865241	67865241	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:67865241G>A	ENST00000562787.1	-	10	1129	c.581C>T	c.(580-582)gCc>gTc	p.A194V	CENPT_ENST00000219172.3_Missense_Mutation_p.A194V|CENPT_ENST00000564817.1_Missense_Mutation_p.A194V|CENPT_ENST00000445712.2_Missense_Mutation_p.A91V|CENPT_ENST00000440851.2_Missense_Mutation_p.A194V|CENPT_ENST00000562947.1_5'UTR	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	194	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		AAGAGGTGTGGCAAAGGTCAG	0.617																																						ENST00000562787.1																			0				NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(580-582)gCc>gTc		centromere protein T							50.0	58.0	55.0					16																	67865241		2026	4186	6212	SO:0001583	missense	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67865241G>A	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.581C>T	16.37:g.67865241G>A	ENSP00000457810:p.Ala194Val					CENPT_ENST00000445712.2_Missense_Mutation_p.A91V|CENPT_ENST00000564817.1_Missense_Mutation_p.A194V|CENPT_ENST00000440851.2_Missense_Mutation_p.A194V|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000219172.3_Missense_Mutation_p.A194V	p.A194V	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	10	1129	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	194					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.581C>T	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707568	0.68615	.	.	ENSG00000102901	ENST00000440851;ENST00000219172;ENST00000445712	T;T;T	0.49720	0.87;0.87;0.77	5.36	3.36	0.38483	.	0.449691	0.21054	N	0.080951	T	0.33933	0.0880	L	0.46741	1.465	0.21020	N	0.999801	B;B;B	0.30146	0.154;0.27;0.154	B;B;B	0.32533	0.048;0.147;0.048	T	0.28870	-1.0030	10	0.02654	T	1	-3.2044	8.0515	0.30581	0.1966:0.0:0.8034:0.0	.	91;194;194	B4DMP9;Q96BT3;B3KPB2	.;CENPT_HUMAN;.	V	194;194;91	ENSP00000400140:A194V;ENSP00000219172:A194V;ENSP00000411594:A91V	ENSP00000219172:A194V	A	-	2	0	CENPT	66422742	0.815000	0.29118	0.990000	0.47175	0.995000	0.86356	1.992000	0.40737	1.256000	0.44068	0.644000	0.83932	GCC		0.617	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		17	28	0	0	0	1	0	17	28				
WBP2NL	164684	broad.mit.edu	37	22	42423017	42423017	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:42423017C>A	ENST00000328823.9	+	6	793	c.762C>A	c.(760-762)gcC>gcA	p.A254A	WBP2NL_ENST00000543212.1_Silent_p.A180A	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	254	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						GATATGGAGCCCCACCTCTCG	0.597																																						ENST00000328823.9																			0				breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						c.(760-762)gcC>gcA		WBP2 N-terminal like							134.0	154.0	147.0					22																	42423017		2203	4300	6503	SO:0001819	synonymous_variant	164684				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	g.chr22:42423017C>A	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.762C>A	22.37:g.42423017C>A						WBP2NL_ENST00000543212.1_Silent_p.A180A	p.A254A	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN			6	793	+			254			10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.		A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Silent	SNP	ENST00000328823.9	37	c.762C>A	CCDS14029.1																																																																																				0.597	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		9	187	1	0	0.000673444	1	0.00068547	9	187				
CAPZA1	829	broad.mit.edu	37	1	113197226	113197226	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:113197226G>T	ENST00000263168.3	+	5	1031	c.359G>T	c.(358-360)tGg>tTg	p.W120L	snoU13_ENST00000459345.1_RNA|CAPZA1_ENST00000476936.1_Intron	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	120					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGAAGTCTTGGAGAGAATCC	0.413																																						ENST00000263168.3																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9						c.(358-360)tGg>tTg		capping protein (actin filament) muscle Z-line, alpha 1							158.0	170.0	166.0					1																	113197226		2203	4300	6503	SO:0001583	missense	829				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding	g.chr1:113197226G>T	U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.359G>T	1.37:g.113197226G>T	ENSP00000263168:p.Trp120Leu					CAPZA1_ENST00000476936.1_Intron	p.W120L	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1031	+	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	120					Q53FQ6|Q6FHD5	Missense_Mutation	SNP	ENST00000263168.3	37	c.359G>T	CCDS30805.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043982	0.55110	.	.	ENSG00000116489	ENST00000263168	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.26810	0.0656	N	0.25332	0.735	0.80722	D	1	B	0.22746	0.074	B	0.25506	0.061	T	0.17592	-1.0364	9	0.06757	T	0.87	-8.4697	17.4837	0.87682	0.0:0.0:1.0:0.0	.	120	P52907	CAZA1_HUMAN	L	120	.	ENSP00000263168:W120L	W	+	2	0	CAPZA1	112998749	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.655000	0.98512	2.526000	0.85167	0.585000	0.79938	TGG		0.413	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032567.2	NM_006135		9	91	1	0	2.17888e-05	1	2.24902e-05	9	91				
NEURL4	84461	broad.mit.edu	37	17	7224437	7224437	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:7224437G>A	ENST00000399464.2	-	20	3369	c.3354C>T	c.(3352-3354)ggC>ggT	p.G1118G	NEURL4_ENST00000574120.1_5'Flank|NEURL4_ENST00000570460.1_Silent_p.G1094G|RP11-542C16.2_ENST00000575474.1_5'Flank|NEURL4_ENST00000315614.7_Silent_p.G1116G	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1118						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTACTCCCAGGCCATGCTCCT	0.612																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3352-3354)ggC>ggT		neuralized E3 ubiquitin protein ligase 4							62.0	65.0	64.0					17																	7224437		2192	4284	6476	SO:0001819	synonymous_variant	84461							g.chr17:7224437G>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.3354C>T	17.37:g.7224437G>A						NEURL4_ENST00000315614.7_Silent_p.G1116G|NEURL4_ENST00000570460.1_Silent_p.G1094G	p.G1118G	NM_032442.2	NP_115818.2					20	3369	-								Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	ENST00000399464.2	37	c.3354C>T	CCDS42251.1																																																																																				0.612	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		4	45	0	0	0	1	0	4	45				
EPPK1	83481	broad.mit.edu	37	8	144940628	144940628	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:144940628G>A	ENST00000525985.1	-	2	6865	c.6794C>T	c.(6793-6795)gCg>gTg	p.A2265V				P58107	EPIPL_HUMAN	epiplakin 1	2265						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCGCCTGCGCCTCCAGCAG	0.726																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6793-6795)gCg>gTg		epiplakin 1							37.0	37.0	37.0					8																	144940628		2147	4244	6391	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940628G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6794C>T	8.37:g.144940628G>A	ENSP00000436337:p.Ala2265Val						p.A2265V			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6865	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2265					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6794C>T		.	.	.	.	.	.	.	.	.	.	G	25.2	4.609217	0.87258	.	.	ENSG00000227184	ENST00000525985	T	0.77620	-1.11	4.67	4.67	0.58626	.	.	.	.	.	D	0.90242	0.6949	M	0.93150	3.385	0.51012	D	0.999902	D	0.89917	1.0	D	0.97110	1.0	D	0.90633	0.4568	9	0.33940	T	0.23	.	15.1226	0.72457	0.0:0.0:1.0:0.0	.	2265	E9PPU0	.	V	2265	ENSP00000436337:A2265V	ENSP00000436337:A2265V	A	-	2	0	EPPK1	145012616	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.583000	0.98217	2.420000	0.82092	0.591000	0.81541	GCG		0.726	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		6	86	0	0	0	1	0	6	86				
DNHD1	144132	broad.mit.edu	37	11	6592024	6592024	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:6592024T>A	ENST00000527990.2	+	40	13282	c.13282T>A	c.(13282-13284)Tct>Act	p.S4428T	DNHD1_ENST00000254579.6_Missense_Mutation_p.S4428T			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4428					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGTTCCTGAGTCTCGAAGAGG	0.637																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(13282-13284)Tct>Act		dynein heavy chain domain 1							25.0	30.0	28.0					11																	6592024		2088	4205	6293	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6592024T>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13282T>A	11.37:g.6592024T>A	ENSP00000436180:p.Ser4428Thr					DNHD1_ENST00000527990.2_Missense_Mutation_p.S4428T	p.S4428T	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	42	13846	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4428					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.13282T>A	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.699492	0.30142	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.27720	1.65;1.65	4.78	-4.76	0.03229	Dynein heavy chain (1);	1.097160	0.07008	N	0.824551	T	0.08537	0.0212	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.21861	-1.0233	10	0.22109	T	0.4	1.4957	1.5231	0.02520	0.2406:0.365:0.2306:0.1638	.	3516;480;4428	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	T	4428;4428;696	ENSP00000254579:S4428T;ENSP00000436180:S4428T	ENSP00000254579:S4428T	S	+	1	0	DNHD1	6548600	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.084000	0.14891	-0.924000	0.03780	-1.845000	0.00574	TCT		0.637	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		12	18	0	0	0	1	0	12	18				
PNMA2	10687	broad.mit.edu	37	8	26365435	26365435	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:26365435C>T	ENST00000522362.2	-	3	1731	c.837G>A	c.(835-837)gcG>gcA	p.A279A	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	279					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)		gtttctccaccgctctccgga	0.602																																						ENST00000522362.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11						c.(835-837)gcG>gcA		paraneoplastic Ma antigen 2							47.0	47.0	47.0					8																	26365435		2203	4300	6503	SO:0001819	synonymous_variant	10687				apoptosis	nucleolus	protein binding	g.chr8:26365435C>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.837G>A	8.37:g.26365435C>T							p.A279A	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	1731	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	279					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Silent	SNP	ENST00000522362.2	37	c.837G>A	CCDS34868.1																																																																																				0.602	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		5	46	0	0	0	1	0	5	46				
SLC38A11	151258	broad.mit.edu	37	2	165809221	165809221	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:165809221A>G	ENST00000409149.3	-	2	348	c.57T>C	c.(55-57)gtT>gtC	p.V19V	SLC38A11_ENST00000409058.1_Intron|SLC38A11_ENST00000303735.4_Silent_p.V19V|SLC38A11_ENST00000409662.1_Silent_p.V19V	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	19					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TTTTACCTGTAACATATGAAA	0.363																																						ENST00000303735.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						c.(55-57)gtT>gtC		solute carrier family 38, member 11							52.0	56.0	55.0					2																	165809221		2203	4299	6502	SO:0001819	synonymous_variant	151258				amino acid transport|sodium ion transport	integral to membrane		g.chr2:165809221A>G		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.57T>C	2.37:g.165809221A>G						SLC38A11_ENST00000409662.1_Silent_p.V19V|SLC38A11_ENST00000409149.3_Silent_p.V19V|SLC38A11_ENST00000409058.1_Intron	p.V19V	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN			2	387	-			19					B4DF99|Q8N887	Silent	SNP	ENST00000409149.3	37	c.57T>C	CCDS56142.1																																																																																				0.363	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		5	29	0	0	0	1	0	5	29				
IL4R	3566	broad.mit.edu	37	16	27372111	27372111	+	Nonsense_Mutation	SNP	C	C	T	rs533865105	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:27372111C>T	ENST00000395762.2	+	10	1133	c.874C>T	c.(874-876)Cga>Tga	p.R292*	IL4R_ENST00000543915.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000170630.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Nonsense_Mutation_p.R277*	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	292					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GAAGCGGTCCCGAGGCCAGGA	0.557																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(874-876)Cga>Tga		interleukin 4 receptor							179.0	164.0	169.0					16																	27372111		2197	4300	6497	SO:0001587	stop_gained	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27372111C>T	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.874C>T	16.37:g.27372111C>T	ENSP00000379111:p.Arg292*					IL4R_ENST00000170630.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000543915.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Nonsense_Mutation_p.R277*	p.R292*	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			10	1133	+			292					B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Nonsense_Mutation	SNP	ENST00000395762.2	37	c.874C>T	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930157	0.92389	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	.	.	.	3.46	2.49	0.30216	.	0.631198	0.14109	N	0.340849	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.7972	8.8118	0.34971	0.0:0.7691:0.2309:0.0	.	.	.	.	X	292;292;277;292	.	ENSP00000170630:R292X	R	+	1	2	IL4R	27279612	0.001000	0.12720	0.086000	0.20670	0.376000	0.30014	0.916000	0.28651	1.011000	0.39340	0.462000	0.41574	CGA		0.557	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			28	65	0	0	0	1	0	28	65				
MPEG1	219972	broad.mit.edu	37	11	58979029	58979029	+	Missense_Mutation	SNP	C	C	T	rs571774631		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:58979029C>T	ENST00000361050.3	-	1	1395	c.1310G>A	c.(1309-1311)cGa>cAa	p.R437Q	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	437						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AGTGCACTTTCGATGACACTC	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		18889	0.0		0.001	False		,,,				2504	0.0					ENST00000361050.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1309-1311)cGa>cAa		macrophage expressed 1							96.0	89.0	91.0					11																	58979029		1961	4159	6120	SO:0001583	missense	219972					integral to membrane		g.chr11:58979029C>T	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1310G>A	11.37:g.58979029C>T	ENSP00000354335:p.Arg437Gln						p.R437Q	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	1395	-		all_epithelial(135;0.125)	437					Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.1310G>A	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	C	0.033	-1.322931	0.01320	.	.	ENSG00000197629	ENST00000361050	T	0.40756	1.02	5.72	-2.75	0.05914	.	0.879202	0.09961	N	0.733495	T	0.27419	0.0673	L	0.38531	1.155	0.09310	N	1	B	0.22541	0.071	B	0.16722	0.016	T	0.21381	-1.0247	10	0.23891	T	0.37	-1.3979	7.6873	0.28548	0.0:0.3478:0.1153:0.5368	.	437	Q2M385	MPEG1_HUMAN	Q	437	ENSP00000354335:R437Q	ENSP00000354335:R437Q	R	-	2	0	MPEG1	58735605	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.137000	0.10389	-0.903000	0.03881	-1.774000	0.00658	CGA		0.532	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		5	83	0	0	0	1	0	5	83				
ZNF37A	7587	broad.mit.edu	37	10	38407509	38407509	+	Missense_Mutation	SNP	G	G	A	rs371302765		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:38407509G>A	ENST00000361085.5	+	7	1775	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	ZNF37A_ENST00000351773.3_Missense_Mutation_p.R477H	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	477					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AAAACCTTCCGTCAGAAGTCA	0.403																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(1429-1431)cGt>cAt		zinc finger protein 37A		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	58.0	59.0	58.0		1430,1430,1430	0.4	1.0	10		58	0,8600		0,0,4300	no	missense,missense,missense	ZNF37A	NM_001007094.2,NM_001178101.1,NM_003421.2	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	477/562,477/562,477/562	38407509	1,13005	2203	4300	6503	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38407509G>A	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1430G>A	10.37:g.38407509G>A	ENSP00000354377:p.Arg477His					ZNF37A_ENST00000361085.4_Missense_Mutation_p.R477H	p.R477H	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			8	2260	+			477					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.1430G>A	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060115	0.36373	2.27E-4	0.0	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.18016	2.24;2.24	2.34	0.388	0.16264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08268	0.0206	N	0.20766	0.605	0.09310	N	1	B	0.19200	0.034	B	0.13407	0.009	T	0.38824	-0.9643	9	0.20519	T	0.43	.	2.6961	0.05135	0.3289:0.258:0.4131:0.0	.	477	P17032	ZN37A_HUMAN	H	477	ENSP00000329141:R477H;ENSP00000354377:R477H	ENSP00000329141:R477H	R	+	2	0	ZNF37A	38447515	0.000000	0.05858	0.982000	0.44146	0.859000	0.49053	-2.016000	0.01446	0.323000	0.23307	-0.218000	0.12543	CGT		0.403	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		29	57	0	0	0	1	0	29	57				
TMPRSS11B	132724	broad.mit.edu	37	4	69101871	69101871	+	Missense_Mutation	SNP	T	T	C	rs376428535		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:69101871T>C	ENST00000332644.5	-	3	399	c.238A>G	c.(238-240)Aag>Gag	p.K80E		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	80	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGATTTACCTTAGTCTCAATA	0.284																																						ENST00000332644.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						c.(238-240)Aag>Gag		transmembrane protease, serine 11B		T	GLU/LYS	0,4386		0,0,2193	40.0	40.0	40.0		238	1.6	0.9	4		40	1,8581	1.2+/-3.3	0,1,4290	no	missense	TMPRSS11B	NM_182502.3	56	0,1,6483	CC,CT,TT		0.0117,0.0,0.0077	possibly-damaging	80/417	69101871	1,12967	2193	4291	6484	SO:0001583	missense	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69101871T>C	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.238A>G	4.37:g.69101871T>C	ENSP00000330475:p.Lys80Glu						p.K80E	NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN			3	399	-			80			SEA.		A8K4D9	Missense_Mutation	SNP	ENST00000332644.5	37	c.238A>G	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	T	5.825	0.336475	0.11013	0.0	1.17E-4	ENSG00000185873	ENST00000332644	T	0.37584	1.19	4.1	1.64	0.23874	SEA (2);	0.352647	0.20492	N	0.091268	T	0.26702	0.0653	L	0.49350	1.555	0.26163	N	0.979977	P	0.45176	0.852	B	0.42462	0.388	T	0.07693	-1.0759	10	0.20519	T	0.43	.	3.7021	0.08386	0.0:0.118:0.2277:0.6543	.	80	Q86T26	TM11B_HUMAN	E	80	ENSP00000330475:K80E	ENSP00000330475:K80E	K	-	1	0	TMPRSS11B	68784466	0.097000	0.21791	0.881000	0.34555	0.960000	0.62799	0.190000	0.17057	0.710000	0.31997	0.477000	0.44152	AAG		0.284	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		11	20	0	0	0	1	0	11	20				
VAC14	55697	broad.mit.edu	37	16	70820236	70820236	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:70820236G>A	ENST00000261776.5	-	2	397	c.137C>T	c.(136-138)aCc>aTc	p.T46I		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	46					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GATTTGCACGGTATTGTTCTG	0.642																																						ENST00000261776.5																			0				breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(136-138)aCc>aTc		Vac14 homolog (S. cerevisiae)							96.0	94.0	95.0					16																	70820236		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70820236G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.137C>T	16.37:g.70820236G>A	ENSP00000261776:p.Thr46Ile						p.T46I	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			2	397	-		Ovarian(137;0.0699)	46					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.137C>T	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960918	0.53400	.	.	ENSG00000103043	ENST00000261776	T	0.66638	-0.22	5.49	5.49	0.81192	Armadillo-like helical (1);Armadillo-type fold (1);	0.164249	0.56097	D	0.000040	T	0.60483	0.2272	L	0.45581	1.43	0.80722	D	1	B	0.31054	0.306	B	0.26969	0.075	T	0.56811	-0.7917	10	0.21014	T	0.42	-12.788	19.3733	0.94498	0.0:0.0:1.0:0.0	.	46	Q08AM6	VAC14_HUMAN	I	46	ENSP00000261776:T46I	ENSP00000261776:T46I	T	-	2	0	VAC14	69377737	1.000000	0.71417	0.878000	0.34440	0.972000	0.66771	9.799000	0.99117	2.579000	0.87056	0.650000	0.86243	ACC		0.642	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		14	34	0	0	0	1	0	14	34				
APLF	200558	broad.mit.edu	37	2	68717386	68717386	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:68717386T>C	ENST00000303795.4	+	2	332	c.161T>C	c.(160-162)aTc>aCc	p.I54T		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	54	FHA-like.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CAGCTGCGAATCAAACCGGTA	0.368																																						ENST00000303795.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(160-162)aTc>aCc		aprataxin and PNKP like factor							84.0	85.0	85.0					2																	68717386		2203	4300	6503	SO:0001583	missense	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68717386T>C	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.161T>C	2.37:g.68717386T>C	ENSP00000307004:p.Ile54Thr						p.I54T	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN			2	332	+			54			FHA-like.		A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	c.161T>C	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	t	20.3	3.971371	0.74246	.	.	ENSG00000169621	ENST00000303795	T	0.26957	1.7	5.93	5.93	0.95920	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.056194	0.64402	D	0.000001	T	0.51856	0.1699	M	0.78637	2.42	0.43857	D	0.996453	D	0.76494	0.999	D	0.85130	0.997	T	0.56226	-0.8014	10	0.87932	D	0	.	12.7716	0.57423	0.0:0.0:0.0:1.0	.	54	Q8IW19	APLF_HUMAN	T	54	ENSP00000307004:I54T	ENSP00000307004:I54T	I	+	2	0	APLF	68570890	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.902000	0.56310	2.271000	0.75665	0.533000	0.62120	ATC		0.368	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		3	8	0	0	0	1	0	3	8				
GPR124	25960	broad.mit.edu	37	8	37697698	37697698	+	Silent	SNP	G	G	A	rs200971618		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:37697698G>A	ENST00000412232.2	+	17	2584	c.2571G>A	c.(2569-2571)gcG>gcA	p.A857A	GPR124_ENST00000315215.7_Silent_p.A640A	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	857					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCGTGAAGGCGCGAGTGCTCC	0.632																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1918-1920)gcG>gcA		G protein-coupled receptor 124							67.0	57.0	61.0					8																	37697698		2203	4300	6503	SO:0001819	synonymous_variant	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37697698G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2571G>A	8.37:g.37697698G>A						GPR124_ENST00000412232.2_Silent_p.A857A	p.A640A			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		14	2283	+			857					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.1920G>A	CCDS6097.2																																																																																				0.632	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			14	32	0	0	0	1	0	14	32				
MUC17	140453	broad.mit.edu	37	7	100685313	100685313	+	Missense_Mutation	SNP	C	C	T	rs138135476		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:100685313C>T	ENST00000306151.4	+	3	10680	c.10616C>T	c.(10615-10617)aCa>aTa	p.T3539I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3539	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCCTTTCAACAACTCCTGTT	0.483																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10615-10617)aCa>aTa		mucin 17, cell surface associated		C	ILE/THR	0,4406		0,0,2203	240.0	250.0	246.0		10616	1.3	0.0	7	dbSNP_134	246	1,8599	1.2+/-3.3	0,1,4299	no	missense	MUC17	NM_001040105.1	89	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	3539/4494	100685313	1,13005	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685313C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10616C>T	7.37:g.100685313C>T	ENSP00000302716:p.Thr3539Ile						p.T3539I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10680	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3539			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10616C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	7.404	0.633342	0.14322	0.0	1.16E-4	ENSG00000169876	ENST00000306151	T	0.02015	4.5	1.28	1.28	0.21552	.	.	.	.	.	T	0.03608	0.0103	N	0.24115	0.695	0.09310	N	1	D	0.57899	0.981	P	0.60415	0.874	T	0.47761	-0.9092	9	0.49607	T	0.09	.	3.6512	0.08203	0.0:0.7368:0.0:0.2632	.	3539	Q685J3	MUC17_HUMAN	I	3539	ENSP00000302716:T3539I	ENSP00000302716:T3539I	T	+	2	0	MUC17	100472033	0.004000	0.15560	0.011000	0.14972	0.039000	0.13416	0.953000	0.29162	0.668000	0.31126	0.186000	0.17326	ACA		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		19	386	0	0	0	1	0	19	386				
C1orf101	257044	broad.mit.edu	37	1	244724125	244724125	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:244724125G>A	ENST00000366534.4	+	10	1239	c.1185G>A	c.(1183-1185)gaG>gaA	p.E395E	C1orf101_ENST00000366531.3_Silent_p.E244E|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Silent_p.E395E	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	395						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ACAGGGTTGAGTATACAGGAC	0.368																																						ENST00000366534.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36						c.(1183-1185)gaG>gaA		chromosome 1 open reading frame 101							111.0	119.0	116.0					1																	244724125		2203	4300	6503	SO:0001819	synonymous_variant	257044					integral to membrane		g.chr1:244724125G>A	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1185G>A	1.37:g.244724125G>A						C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Silent_p.E395E|C1orf101_ENST00000366531.3_Silent_p.E244E	p.E395E	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		10	1239	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		395					B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Silent	SNP	ENST00000366534.4	37	c.1185G>A	CCDS44340.1																																																																																				0.368	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		25	51	0	0	0	1	0	25	51				
ABCC8	6833	broad.mit.edu	37	11	17428224	17428224	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:17428224C>T	ENST00000389817.3	-	26	3342	c.3274G>A	c.(3274-3276)Gtg>Atg	p.V1092M	ABCC8_ENST00000302539.4_Missense_Mutation_p.V1093M			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1092	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CTCTTGGCCACCTTCAGCCCT	0.607																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3277-3279)Gtg>Atg		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						135.0	107.0	116.0					11																	17428224		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17428224C>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3274G>A	11.37:g.17428224C>T	ENSP00000374467:p.Val1092Met					ABCC8_ENST00000389817.3_Missense_Mutation_p.V1092M	p.V1093M	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	26	3402	-			1092			ABC transmembrane type-1 2.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.3277G>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.649919	0.87958	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.90385	-2.66;-2.66	5.84	5.84	0.93424	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93798	0.8017	M	0.79693	2.465	0.58432	D	0.999991	B	0.33171	0.4	P	0.45660	0.489	D	0.93511	0.6853	10	0.87932	D	0	.	17.0674	0.86563	0.0:0.8734:0.1266:0.0	.	1092	Q09428	ABCC8_HUMAN	M	1092;1093	ENSP00000374467:V1092M;ENSP00000303960:V1093M	ENSP00000303960:V1093M	V	-	1	0	ABCC8	17384800	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.910000	0.63321	2.756000	0.94617	0.655000	0.94253	GTG		0.607	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		13	38	0	0	0	1	0	13	38				
DCAF15	90379	broad.mit.edu	37	19	14070466	14070466	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:14070466G>A	ENST00000254337.6	+	8	1313	c.1292G>A	c.(1291-1293)cGg>cAg	p.R431Q		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	431					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CGGCCCATGCGGGAGCGGACT	0.692											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000254337.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(1291-1293)cGg>cAg		DDB1 and CUL4 associated factor 15							49.0	52.0	51.0					19																	14070466		2202	4300	6502	SO:0001583	missense	90379							g.chr19:14070466G>A	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1292G>A	19.37:g.14070466G>A	ENSP00000254337:p.Arg431Gln		OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	692		p.R431Q	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN			8	1313	+			431					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.1292G>A	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	g	17.25	3.341782	0.61073	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.81	4.81	0.61882	.	0.190409	0.33631	N	0.004713	T	0.20129	0.0484	L	0.27053	0.805	0.29306	N	0.868355	P	0.47106	0.89	B	0.34418	0.182	T	0.24835	-1.0149	9	0.66056	D	0.02	-16.8447	7.4914	0.27464	0.1873:0.0:0.8127:0.0	.	431	Q66K64	DCA15_HUMAN	Q	431	.	ENSP00000254337:R431Q	R	+	2	0	DCAF15	13931466	0.997000	0.39634	1.000000	0.80357	0.982000	0.71751	2.265000	0.43311	2.218000	0.71995	0.561000	0.74099	CGG		0.692	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		5	52	0	0	0	1	0	5	52				
LDB1	8861	broad.mit.edu	37	10	103867967	103867967	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:103867967G>A	ENST00000425280.1	-	11	1461	c.1119C>T	c.(1117-1119)gaC>gaT	p.D373D	LDB1_ENST00000490751.1_5'Flank|LDB1_ENST00000361198.5_Silent_p.D337D	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	373	LIM-binding domain (LID). {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)	p.D373D(1)|p.D337D(1)		breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TGTCCTCGTCGTCAATGCCGT	0.622																																						ENST00000361198.5																			2	Substitution - coding silent(2)	p.D373D(1)|p.D337D(1)	endometrium(2)	breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21						c.(1009-1011)gaC>gaT		LIM domain binding 1							193.0	151.0	165.0					10																	103867967		2203	4300	6503	SO:0001819	synonymous_variant	8861				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	g.chr10:103867967G>A	AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.1119C>T	10.37:g.103867967G>A						LDB1_ENST00000425280.1_Silent_p.D373D	p.D337D	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)	11	1634	-		Colorectal(252;0.122)	373			LIM-binding domain (LID) (By similarity).		B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Silent	SNP	ENST00000425280.1	37	c.1011C>T	CCDS44472.1																																																																																				0.622	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113407		5	67	0	0	0	1	0	5	67				
COPZ2	51226	broad.mit.edu	37	17	46111238	46111238	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:46111238G>A	ENST00000006101.4	-	4	252	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	87					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)				lung(3)|upper_aerodigestive_tract(1)	4						CTCTCAGTCCGGCTGGTCTTG	0.483																																						ENST00000006101.4																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(253-255)Cgg>Tgg		coatomer protein complex, subunit zeta 2							82.0	85.0	84.0					17																	46111238		2032	4198	6230	SO:0001583	missense	51226				intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat		g.chr17:46111238G>A	AB037938	CCDS74092.1	17q21.2	2008-07-18				ENSG00000005243			19356	protein-coding gene	gene with protein product	"""nonclathrin coat protein zeta-COP"", ""zeta2-COP"", ""zeta-2 coat protein"""	615526				11056392	Standard	NM_016429		Approved	MGC23008	uc002imy.3	Q9P299		ENST00000006101.4:c.253C>T	17.37:g.46111238G>A	ENSP00000006101:p.Arg85Trp					COPZ2_ENST00000584666.1_5'UTR	p.R85W	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN			4	252	-			87						Missense_Mutation	SNP	ENST00000006101.4	37	c.253C>T		.	.	.	.	.	.	.	.	.	.	G	10.45	1.352878	0.24512	.	.	ENSG00000005243	ENST00000006101	.	.	.	5.59	2.31	0.28768	Longin-like (1);AP complex, mu/sigma subunit (1);	0.070241	0.53938	D	0.000045	T	0.75391	0.3843	M	0.81239	2.535	0.40033	D	0.975554	D	0.76494	0.999	D	0.71656	0.974	T	0.78028	-0.2364	9	0.87932	D	0	-13.7446	8.8254	0.35052	0.074:0.0:0.5668:0.3593	.	87	Q9P299	COPZ2_HUMAN	W	85	.	ENSP00000006101:R85W	R	-	1	2	COPZ2	43466237	0.997000	0.39634	0.999000	0.59377	0.549000	0.35272	1.575000	0.36493	1.339000	0.45563	0.643000	0.83706	CGG		0.483	COPZ2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016429		3	13	0	0	0	1	0	3	13				
TERF2	7014	broad.mit.edu	37	16	69400909	69400909	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:69400909A>G	ENST00000254942.3	-	7	1157	c.1141T>C	c.(1141-1143)Tca>Cca	p.S381P	TERF2_ENST00000603068.1_Missense_Mutation_p.S339P|TERF2_ENST00000569611.2_5'Flank	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	381					age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				GCCGGGGCTGAACTTTCGTTT	0.517																																					Ovarian(13;63 524 30420 31710 34037)	ENST00000254942.3																			0				NS(2)|breast(1)|large_intestine(3)|lung(1)	7						c.(1141-1143)Tca>Cca		telomeric repeat binding factor 2							88.0	86.0	87.0					16																	69400909		2198	4300	6498	SO:0001583	missense	7014				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity	g.chr16:69400909A>G		CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.1141T>C	16.37:g.69400909A>G	ENSP00000254942:p.Ser381Pro					TERF2_ENST00000603068.1_Missense_Mutation_p.S339P	p.S381P	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN			7	1157	-		Ovarian(137;0.101)	339						Missense_Mutation	SNP	ENST00000254942.3	37	c.1141T>C		.	.	.	.	.	.	.	.	.	.	A	18.81	3.704116	0.68615	.	.	ENSG00000132604	ENST00000254942	.	.	.	6.07	4.96	0.65561	.	0.825204	0.11196	N	0.589354	T	0.56470	0.1987	L	0.46157	1.445	0.80722	D	1	D	0.55800	0.973	P	0.51582	0.674	T	0.46105	-0.9215	9	0.45353	T	0.12	-7.3134	10.5995	0.45358	0.8394:0.1606:0.0:0.0	.	339	Q15554	TERF2_HUMAN	P	339	.	ENSP00000254942:S339P	S	-	1	0	TERF2	67958410	0.756000	0.28383	0.994000	0.49952	0.851000	0.48451	0.812000	0.27211	1.080000	0.41073	0.533000	0.62120	TCA		0.517	TERF2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000268944.2			19	31	0	0	0	1	0	19	31				
MASP1	5648	broad.mit.edu	37	3	186947661	186947661	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:186947661C>T	ENST00000337774.5	-	11	1717	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	443					complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CATCAGCTTCCGGGAGAACTT	0.607																																						ENST00000337774.5																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(1327-1329)cGg>cAg		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							69.0	66.0	67.0					3																	186947661		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186947661C>T	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1328G>A	3.37:g.186947661C>T	ENSP00000336792:p.Arg443Gln						p.R443Q	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	11	1717	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		443					A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.1328G>A	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045752	0.55110	.	.	ENSG00000127241	ENST00000337774	D	0.92858	-3.12	5.7	5.7	0.88788	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	D	0.85212	0.5645	N	0.19112	0.55	0.80722	D	1	B	0.23650	0.089	B	0.15052	0.012	T	0.80439	-0.1382	9	0.12103	T	0.63	.	17.7138	0.88330	0.0:1.0:0.0:0.0	.	443	P48740	MASP1_HUMAN	Q	443	ENSP00000336792:R443Q	ENSP00000336792:R443Q	R	-	2	0	MASP1	188430355	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.939000	0.40213	2.861000	0.98227	0.655000	0.94253	CGG		0.607	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		9	21	0	0	0	1	0	9	21				
MPHOSPH8	54737	broad.mit.edu	37	13	20235872	20235872	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr13:20235872C>T	ENST00000361479.5	+	8	1894	c.1826C>T	c.(1825-1827)gCc>gTc	p.A609V	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.A609V	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	609					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ATGCTTGCCGCCGCCGGAGGG	0.502																																						ENST00000361479.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1825-1827)gCc>gTc		M-phase phosphoprotein 8							128.0	135.0	133.0					13																	20235872		2203	4300	6503	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20235872C>T	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1826C>T	13.37:g.20235872C>T	ENSP00000355388:p.Ala609Val					MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.A609V	p.A609V	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	8	1894	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	609					B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.1826C>T	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492489	0.84962	.	.	ENSG00000196199	ENST00000414242;ENST00000361479	T;T	0.70516	-0.49;-0.49	6.08	6.08	0.98989	Ankyrin repeat-containing domain (4);	0.105071	0.64402	D	0.000003	D	0.82774	0.5110	L	0.54965	1.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82418	-0.0467	10	0.72032	D	0.01	.	20.2672	0.98462	0.0:1.0:0.0:0.0	.	609;609	Q99549;Q99549-2	MPP8_HUMAN;.	V	609	ENSP00000414663:A609V;ENSP00000355388:A609V	ENSP00000355388:A609V	A	+	2	0	MPHOSPH8	19133872	1.000000	0.71417	0.779000	0.31741	0.166000	0.22503	7.221000	0.78016	2.894000	0.99253	0.591000	0.81541	GCC		0.502	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		18	120	0	0	0	1	0	18	120				
RALGPS1	9649	broad.mit.edu	37	9	129931001	129931001	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr9:129931001C>T	ENST00000259351.5	+	10	1059	c.792C>T	c.(790-792)tcC>tcT	p.S264S	RALGPS1_ENST00000424082.2_Silent_p.S264S|RALGPS1_ENST00000394022.3_Silent_p.S264S|RALGPS1_ENST00000373434.1_Silent_p.S264S|RALGPS1_ENST00000373436.1_Silent_p.S264S	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	264	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.S264S(2)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACCTGAAGTCCGTACGCTACA	0.527																																						ENST00000259351.5																			2	Substitution - coding silent(2)	p.S264S(2)	lung(2)	kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(790-792)tcC>tcT		Ral GEF with PH domain and SH3 binding motif 1							192.0	166.0	175.0					9																	129931001		2203	4300	6503	SO:0001819	synonymous_variant	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129931001C>T	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.792C>T	9.37:g.129931001C>T						RALGPS1_ENST00000373434.1_Silent_p.S264S|RALGPS1_ENST00000394022.3_Silent_p.S264S|RALGPS1_ENST00000373436.1_Silent_p.S264S|RALGPS1_ENST00000424082.2_Silent_p.S264S	p.S264S	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN			10	1059	+			264			Ras-GEF.		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Silent	SNP	ENST00000259351.5	37	c.792C>T	CCDS35143.1																																																																																				0.527	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		9	78	0	0	0	1	0	9	78				
ALCAM	214	broad.mit.edu	37	3	105260577	105260577	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:105260577G>A	ENST00000306107.5	+	8	1459	c.959G>A	c.(958-960)aGc>aAc	p.S320N	ALCAM_ENST00000486979.2_Missense_Mutation_p.S269N|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000472644.2_Missense_Mutation_p.S320N	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	320	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GACAAAAAAAGCATGATTGCT	0.428																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(958-960)aGc>aAc		activated leukocyte cell adhesion molecule							155.0	127.0	136.0					3																	105260577		2203	4300	6503	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105260577G>A	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.959G>A	3.37:g.105260577G>A	ENSP00000305988:p.Ser320Asn					ALCAM_ENST00000472644.2_Missense_Mutation_p.S320N|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Missense_Mutation_p.S269N|ALCAM_ENST00000389927.4_Intron	p.S320N	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN			8	1459	+			320			Ig-like C2-type 1.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.959G>A	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.748371	0.30955	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979	T;T;T	0.11385	2.78;2.78;2.78	6.17	2.4	0.29515	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.463544	0.30547	N	0.009393	T	0.05593	0.0147	N	0.16656	0.425	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.41484	-0.9506	10	0.24483	T	0.36	-5.5596	5.8367	0.18611	0.2728:0.1281:0.5991:0.0	.	320;320	B4DTU0;Q13740	.;CD166_HUMAN	N	320;320;269	ENSP00000305988:S320N;ENSP00000419236:S320N;ENSP00000418213:S269N	ENSP00000305988:S320N	S	+	2	0	ALCAM	106743267	0.998000	0.40836	0.953000	0.39169	0.999000	0.98932	1.055000	0.30467	0.169000	0.19679	0.655000	0.94253	AGC		0.428	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		9	74	0	0	0	1	0	9	74				
DZIP3	9666	broad.mit.edu	37	3	108363248	108363248	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:108363248C>T	ENST00000361582.3	+	14	1609	c.1379C>T	c.(1378-1380)cCg>cTg	p.P460L	DZIP3_ENST00000463306.1_Missense_Mutation_p.P460L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	460					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAGGAGTTACCGCAATCCAAA	0.418																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(1378-1380)cCg>cTg		DAZ interacting zinc finger protein 3							160.0	152.0	155.0					3																	108363248		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108363248C>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1379C>T	3.37:g.108363248C>T	ENSP00000355028:p.Pro460Leu					DZIP3_ENST00000463306.1_Missense_Mutation_p.P460L	p.P460L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			14	1609	+			460					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.1379C>T	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.440947	0.63067	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T	0.30981	1.51;1.51	4.39	4.39	0.52855	.	0.000000	0.52532	D	0.000075	T	0.47097	0.1427	L	0.46157	1.445	0.48975	D	0.999736	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.41928	-0.9481	10	0.87932	D	0	-9.6746	12.7679	0.57403	0.0:1.0:0.0:0.0	.	460;460	C9J9M8;Q86Y13	.;DZIP3_HUMAN	L	460	ENSP00000355028:P460L;ENSP00000419981:P460L	ENSP00000355028:P460L	P	+	2	0	DZIP3	109845938	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.708000	0.37899	2.724000	0.93272	0.655000	0.94253	CCG		0.418	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		31	129	0	0	0	1	0	31	129				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			7	51	0	0	0	1	0	7	51				
RYR1	6261	broad.mit.edu	37	19	38937375	38937375	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:38937375G>A	ENST00000359596.3	+	9	767	c.767G>A	c.(766-768)cGc>cAc	p.R256H	RYR1_ENST00000360985.3_Missense_Mutation_p.R256H|RYR1_ENST00000355481.4_Missense_Mutation_p.R256H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	256	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACTCATGCCCGCTCCCTCTGG	0.602																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(766-768)cGc>cAc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						46.0	46.0	46.0					19																	38937375		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38937375G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.767G>A	19.37:g.38937375G>A	ENSP00000352608:p.Arg256His					RYR1_ENST00000360985.3_Missense_Mutation_p.R256H|RYR1_ENST00000359596.3_Missense_Mutation_p.R256H	p.R256H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		9	898	+	all_cancers(60;7.91e-06)		256			MIR 3.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.767G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511990	0.64522	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.90385	-2.66;-2.66;-2.66	4.31	4.31	0.51392	MIR motif (2);MIR (2);	0.000000	0.64402	U	0.000009	D	0.94804	0.8322	M	0.77103	2.36	0.47407	D	0.999416	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.95349	0.8445	10	0.87932	D	0	.	14.3051	0.66380	0.0:0.0:1.0:0.0	.	256;256	P21817-2;P21817	.;RYR1_HUMAN	H	256	ENSP00000352608:R256H;ENSP00000347667:R256H;ENSP00000354254:R256H	ENSP00000347667:R256H	R	+	2	0	RYR1	43629215	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	9.215000	0.95146	2.242000	0.73789	0.563000	0.77884	CGC		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			15	36	0	0	0	1	0	15	36				
PIGW	284098	broad.mit.edu	37	17	34893859	34893859	+	Silent	SNP	C	C	T	rs199843214		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:34893859C>T	ENST00000592983.1	+	2	1489	c.909C>T	c.(907-909)cgC>cgT	p.R303R	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Silent_p.R303R			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	303					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGCCAACCGCGAAGGAATAA	0.428																																						ENST00000592983.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(907-909)cgC>cgT		phosphatidylinositol glycan anchor biosynthesis, class W		C		1,4405	4.2+/-10.8	0,1,2202	79.0	77.0	78.0		909	0.2	1.0	17		78	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PIGW	NM_178517.3		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		303/505	34893859	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	284098				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity	g.chr17:34893859C>T	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"""Phosphatidylinositol glycan anchor biosynthesis"""	23213	protein-coding gene	gene with protein product		610275	"""phosphatidylinositol glycan, class W"""			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.909C>T	17.37:g.34893859C>T						PIGW_ENST00000328396.2_Silent_p.R303R|MYO19_ENST00000590081.1_Intron	p.R303R			Q7Z7B1	PIGW_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	1489	+		Breast(25;0.00957)|Ovarian(249;0.17)	303					Q8N9G3	Silent	SNP	ENST00000592983.1	37	c.909C>T	CCDS11313.1																																																																																				0.428	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	NM_178517		19	60	0	0	0	1	0	19	60				
CWF19L1	55280	broad.mit.edu	37	10	101995439	101995439	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:101995439G>T	ENST00000354105.4	-	13	1543	c.1457C>A	c.(1456-1458)cCt>cAt	p.P486H	RP11-316M21.6_ENST00000444359.1_RNA|CWF19L1_ENST00000370379.1_Missense_Mutation_p.P201H|CWF19L1_ENST00000478047.1_5'UTR|SNORA12_ENST00000391162.1_RNA	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	486							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		AAACTGCAAAGGAAAATTCTT	0.363																																						ENST00000354105.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17						c.(1456-1458)cCt>cAt		CWF19-like 1, cell cycle control (S. pombe)							70.0	68.0	69.0					10																	101995439		2203	4300	6503	SO:0001583	missense	55280						catalytic activity	g.chr10:101995439G>T	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1457C>A	10.37:g.101995439G>T	ENSP00000326411:p.Pro486His					CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Missense_Mutation_p.P201H	p.P486H	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)	13	1543	-		Colorectal(252;0.117)	486					B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	ENST00000354105.4	37	c.1457C>A	CCDS7489.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212940	0.79352	.	.	ENSG00000095485	ENST00000354105;ENST00000370379	T;T	0.34859	1.34;1.34	5.29	5.29	0.74685	Cwf19-like protein, C-terminal domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.63034	0.2477	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.997;0.999	T	0.66176	-0.5989	10	0.54805	T	0.06	-10.8848	16.4413	0.83901	0.0:0.0:1.0:0.0	.	190;349;486	Q69YN2-2;Q69YN2-3;Q69YN2	.;.;C19L1_HUMAN	H	486;201	ENSP00000326411:P486H;ENSP00000359405:P201H	ENSP00000326411:P486H	P	-	2	0	CWF19L1	101985429	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.059000	0.93902	2.490000	0.84030	0.563000	0.77884	CCT		0.363	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		5	23	1	0	1	1	1	5	23				
TICAM1	148022	broad.mit.edu	37	19	4817623	4817623	+	Missense_Mutation	SNP	G	G	A	rs370345154		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:4817623G>A	ENST00000248244.5	-	2	996	c.767C>T	c.(766-768)cCg>cTg	p.P256L		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	256	Pro-rich.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCCCGATGGCGGCCAGCTCAT	0.677																																						ENST00000248244.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(766-768)cCg>cTg		toll-like receptor adaptor molecule 1		G	LEU/PRO	0,4406		0,0,2203	21.0	25.0	24.0		767	4.4	0.9	19		24	1,8595		0,1,4297	no	missense	TICAM1	NM_182919.2	98	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	256/713	4817623	1,13001	2203	4298	6501	SO:0001583	missense	148022				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|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	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	g.chr19:4817623G>A	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.767C>T	19.37:g.4817623G>A	ENSP00000248244:p.Pro256Leu						p.P256L	NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	2	996	-			256			Pro-rich.		B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	c.767C>T	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648739	0.67358	0.0	1.16E-4	ENSG00000127666	ENST00000248244	T	0.54675	0.56	4.37	4.37	0.52481	.	0.235542	0.21899	U	0.067463	T	0.65133	0.2662	M	0.65975	2.015	0.36277	D	0.855535	D	0.76494	0.999	P	0.61800	0.894	T	0.72239	-0.4351	10	0.48119	T	0.1	-23.1906	11.3742	0.49717	0.0:0.0:0.8196:0.1804	.	256	Q8IUC6	TCAM1_HUMAN	L	256	ENSP00000248244:P256L	ENSP00000248244:P256L	P	-	2	0	TICAM1	4768623	0.834000	0.29399	0.882000	0.34594	0.743000	0.42351	2.193000	0.42658	2.134000	0.65973	0.313000	0.20887	CCG		0.677	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		3	28	0	0	0	1	0	3	28				
CACNA2D3	55799	broad.mit.edu	37	3	54930848	54930848	+	Silent	SNP	C	C	T	rs373671539		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:54930848C>T	ENST00000474759.1	+	26	2367	c.2319C>T	c.(2317-2319)gcC>gcT	p.A773A	CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Silent_p.A679A|CACNA2D3_ENST00000415676.2_Silent_p.A773A|CACNA2D3_ENST00000288197.5_Silent_p.A773A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	773						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	ACCGAAGAGCCGCTGAGCAGA	0.532																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(2317-2319)gcC>gcT		calcium channel, voltage-dependent, alpha 2/delta subunit 3		C		0,3942		0,0,1971	119.0	120.0	120.0		2319	-11.5	0.0	3		120	1,8313		0,1,4156	no	coding-synonymous	CACNA2D3	NM_018398.2		0,1,6127	TT,TC,CC		0.012,0.0,0.0082		773/1092	54930848	1,12255	1971	4157	6128	SO:0001819	synonymous_variant	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54930848C>T	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2319C>T	3.37:g.54930848C>T						CACNA2D3_ENST00000288197.5_Silent_p.A773A|CACNA2D3_ENST00000490478.1_Silent_p.A679A|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Silent_p.A773A	p.A773A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	26	2367	+			773					B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	c.2319C>T	CCDS54598.1																																																																																				0.532	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			22	37	0	0	0	1	0	22	37				
OR2M2	391194	broad.mit.edu	37	1	248343968	248343968	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:248343968C>T	ENST00000359682.2	+	1	681	c.681C>T	c.(679-681)caC>caT	p.H227H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGTCATTCACATGGGATCTG	0.433																																						ENST00000359682.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(679-681)caC>caT		olfactory receptor, family 2, subfamily M, member 2							178.0	161.0	167.0					1																	248343968		2202	4296	6498	SO:0001819	synonymous_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343968C>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.681C>T	1.37:g.248343968C>T							p.H227H	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	681	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		227					A3KFT4	Silent	SNP	ENST00000359682.2	37	c.681C>T	CCDS31106.1																																																																																				0.433	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		9	167	0	0	0	1	0	9	167				
MTG2	26164	broad.mit.edu	37	20	60773005	60773005	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr20:60773005C>T	ENST00000370823.3	+	4	468	c.450C>T	c.(448-450)ggC>ggT	p.G150G	MTG2_ENST00000436421.2_Intron|MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000536470.1_5'UTR	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	150	Localized in the mitochondria.|Not localized in the mitochondria.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										GGCGCAGTGGCGCCGTCCTCT	0.622																																						ENST00000370823.3																			0											c.(448-450)ggC>ggT		mitochondrial ribosome-associated GTPase 2							91.0	83.0	86.0					20																	60773005		2203	4300	6503	SO:0001819	synonymous_variant	26164							g.chr20:60773005C>T	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.450C>T	20.37:g.60773005C>T						MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Intron	p.G150G	NM_015666.3	NP_056481.1					4	468	+								A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Silent	SNP	ENST00000370823.3	37	c.450C>T	CCDS13492.1																																																																																				0.622	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		12	35	0	0	0	1	0	12	35				
STK31	56164	broad.mit.edu	37	7	23826531	23826531	+	Silent	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:23826531T>A	ENST00000355870.3	+	20	2594	c.2475T>A	c.(2473-2475)ccT>ccA	p.P825P	STK31_ENST00000428484.1_Silent_p.P802P|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Silent_p.P802P|STK31_ENST00000433467.2_Silent_p.P825P	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	825	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCAACATGCCTTTAAATTCAG	0.363																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2404-2406)ccT>ccA		serine/threonine kinase 31							164.0	151.0	155.0					7																	23826531		2203	4300	6503	SO:0001819	synonymous_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23826531T>A	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2475T>A	7.37:g.23826531T>A						STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.P802P|STK31_ENST00000355870.3_Silent_p.P825P|STK31_ENST00000433467.2_Silent_p.P825P	p.P802P	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			20	2870	+			825			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	c.2406T>A	CCDS5386.1																																																																																				0.363	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		7	89	0	0	0	1	0	7	89				
ZNF367	195828	broad.mit.edu	37	9	99150564	99150564	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr9:99150564C>T	ENST00000375256.4	-	5	1304	c.1008G>A	c.(1006-1008)gcG>gcA	p.A336A		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	336					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				GCTCTATGAGCGCGAGGGCTC	0.577																																						ENST00000375256.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12						c.(1006-1008)gcG>gcA		zinc finger protein 367							40.0	43.0	42.0					9																	99150564		2203	4300	6503	SO:0001819	synonymous_variant	195828				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:99150564C>T	AK091289	CCDS6718.1	9q22	2008-05-02			ENSG00000165244	ENSG00000165244		"""Zinc fingers, C2H2-type"""	18320	protein-coding gene	gene with protein product		610160					Standard	NM_153695		Approved	FLJ33970	uc004awf.3	Q7RTV3	OTTHUMG00000020295	ENST00000375256.4:c.1008G>A	9.37:g.99150564C>T							p.A336A	NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN			5	1304	-		Acute lymphoblastic leukemia(62;0.0167)	336					Q6Q7C8	Silent	SNP	ENST00000375256.4	37	c.1008G>A	CCDS6718.1																																																																																				0.577	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053266.1			4	36	0	0	0	1	0	4	36				
ACVR2A	92	broad.mit.edu	37	2	148602758	148602758	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:148602758C>G	ENST00000241416.7	+	1	673	c.37C>G	c.(37-39)Ctt>Gtt	p.L13V	ACVR2A_ENST00000404590.1_Missense_Mutation_p.L13V|ACVR2A_ENST00000535787.1_Intron	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	13				L -> V (in Ref. 4; BAA06548). {ECO:0000305}.	activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGCCGTCTTTCTTATCTCCTG	0.647																																						ENST00000241416.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(37-39)Ctt>Gtt		activin A receptor, type IIA							64.0	65.0	64.0					2																	148602758		2203	4300	6503	SO:0001583	missense	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148602758C>G		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.37C>G	2.37:g.148602758C>G	ENSP00000241416:p.Leu13Val					ACVR2A_ENST00000404590.1_Missense_Mutation_p.L13V|ACVR2A_ENST00000535787.1_Intron	p.L13V	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	1	673	+			13	L -> V (in Ref. 4; BAA06548).				B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	c.37C>G	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998310	0.35226	.	.	ENSG00000121989	ENST00000241416;ENST00000404590	D;D	0.83755	-1.76;-1.76	4.42	4.42	0.53409	.	1.121610	0.06903	N	0.806328	D	0.82467	0.5043	L	0.53249	1.67	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.66524	-0.5902	10	0.36615	T	0.2	.	16.8377	0.85961	0.0:1.0:0.0:0.0	.	13	P27037	AVR2A_HUMAN	V	13	ENSP00000241416:L13V;ENSP00000384338:L13V	ENSP00000241416:L13V	L	+	1	0	ACVR2A	148319228	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.046000	0.57376	2.271000	0.75665	0.585000	0.79938	CTT		0.647	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		14	23	0	0	0	1	0	14	23				
TRIM62	55223	broad.mit.edu	37	1	33612961	33612961	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:33612961C>A	ENST00000291416.5	-	5	1478	c.1245G>T	c.(1243-1245)aaG>aaT	p.K415N	TRIM62_ENST00000543586.1_Missense_Mutation_p.K294N	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	415	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				AGACACCCACCTTGTCAAGCT	0.577																																						ENST00000291416.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1243-1245)aaG>aaT		tripartite motif containing 62							112.0	104.0	107.0					1																	33612961		2203	4300	6503	SO:0001583	missense	55223					intracellular	zinc ion binding	g.chr1:33612961C>A	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.1245G>T	1.37:g.33612961C>A	ENSP00000291416:p.Lys415Asn					TRIM62_ENST00000543586.1_Missense_Mutation_p.K294N	p.K415N	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN			5	1478	-		Myeloproliferative disorder(586;0.0393)	415			B30.2/SPRY.		B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Missense_Mutation	SNP	ENST00000291416.5	37	c.1245G>T	CCDS376.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521895	0.64747	.	.	ENSG00000116525	ENST00000291416;ENST00000543586	T;T	0.69175	-0.38;-0.38	5.53	3.66	0.41972	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.78735	0.4330	M	0.78801	2.425	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.77726	-0.2480	10	0.66056	D	0.02	.	7.6136	0.28145	0.0:0.7391:0.0:0.2609	.	415	Q9BVG3	TRI62_HUMAN	N	415;294	ENSP00000291416:K415N;ENSP00000441173:K294N	ENSP00000291416:K415N	K	-	3	2	TRIM62	33385548	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.965000	0.40471	0.702000	0.31825	0.436000	0.28706	AAG		0.577	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		12	50	1	0	3.07112e-06	1	3.19647e-06	12	50				
ADAMTS6	11174	broad.mit.edu	37	5	64629882	64629882	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:64629882G>T	ENST00000536360.1	-	8	1917	c.1104C>A	c.(1102-1104)ccC>ccA	p.P368P				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	368	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GTGTTCCACAGGGCTTATTTT	0.264																																						ENST00000536360.1																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18						c.(1102-1104)ccC>ccA		ADAM metallopeptidase with thrombospondin type 1 motif, 6							50.0	55.0	53.0					5																	64629882		2200	4298	6498	SO:0001819	synonymous_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64629882G>T	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.1104C>A	5.37:g.64629882G>T							p.P368P			Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	8	1917	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	368			Peptidase M12B.		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Silent	SNP	ENST00000536360.1	37	c.1104C>A																																																																																					0.264	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941		10	26	1	0	1.58986e-06	1	1.66324e-06	10	26				
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:47696426A>C	ENST00000393328.2	-	6	762	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000393331.3_Missense_Mutation_p.F133V	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.F133V(4)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)Ttc>Gtc		speckle-type POZ protein							119.0	121.0	120.0					17																	47696426		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696426A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.397T>G	17.37:g.47696426A>C	ENSP00000377001:p.Phe133Val	Prostate(2;0.17)				SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V	p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	867	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.397T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550963	0.86127	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.94021	3.485	0.80722	D	1	P	0.35155	0.487	P	0.49637	0.617	T	0.74861	-0.3520	10	0.66056	D	0.02	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	V	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133V;ENSP00000377004:F133V;ENSP00000240327:F133V;ENSP00000425905:F133V;ENSP00000420908:F133V;ENSP00000426986:F133V;ENSP00000420960:F133V;ENSP00000426262:F133V;ENSP00000424119:F133V	ENSP00000240327:F133V	F	-	1	0	SPOP	45051425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		35	68	0	0	0	1	0	35	68				
FZD9	8326	broad.mit.edu	37	7	72849235	72849235	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:72849235G>A	ENST00000344575.3	+	1	1127	c.898G>A	c.(898-900)Gcg>Acg	p.A300T		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	300					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGAGGCGGGCGCGCTCTACGT	0.632																																					Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(898-900)Gcg>Acg		frizzled family receptor 9							102.0	93.0	96.0					7																	72849235		2202	4300	6502	SO:0001583	missense	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849235G>A	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.898G>A	7.37:g.72849235G>A	ENSP00000345785:p.Ala300Thr						p.A300T	NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN			1	1127	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	300						Missense_Mutation	SNP	ENST00000344575.3	37	c.898G>A	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274937	0.40194	.	.	ENSG00000188763	ENST00000344575	T	0.44881	0.91	4.1	4.1	0.47936	GPCR, family 2-like (1);	0.215143	0.37348	U	0.002121	T	0.35098	0.0920	N	0.25647	0.755	0.38962	D	0.958568	P	0.45957	0.869	P	0.45406	0.479	T	0.15954	-1.0419	10	0.23302	T	0.38	.	15.6706	0.77270	0.0:0.0:1.0:0.0	.	300	O00144	FZD9_HUMAN	T	300	ENSP00000345785:A300T	ENSP00000345785:A300T	A	+	1	0	FZD9	72487171	1.000000	0.71417	0.208000	0.23602	0.921000	0.55340	3.465000	0.53064	2.004000	0.58718	0.411000	0.27672	GCG		0.632	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			27	43	0	0	0	1	0	27	43				
TAB1	10454	broad.mit.edu	37	22	39814776	39814776	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr22:39814776G>T	ENST00000216160.6	+	6	652	c.590G>T	c.(589-591)gGg>gTg	p.G197V	TAB1_ENST00000331454.3_Missense_Mutation_p.G197V	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	197	PP2C-like.				activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						ACAGTGGATGGGTTGCAGGTG	0.527																																						ENST00000216160.6																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						c.(589-591)gGg>gTg		TGF-beta activated kinase 1/MAP3K7 binding protein 1							160.0	122.0	135.0					22																	39814776		2203	4300	6503	SO:0001583	missense	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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	cytosol|endosome membrane	catalytic activity|protein binding	g.chr22:39814776G>T	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.590G>T	22.37:g.39814776G>T	ENSP00000216160:p.Gly197Val					TAB1_ENST00000331454.3_Missense_Mutation_p.G197V	p.G197V	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN			6	652	+			197			PP2C-like.		Q2PP09|Q8IZW2	Missense_Mutation	SNP	ENST00000216160.6	37	c.590G>T	CCDS13993.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261553	0.80358	.	.	ENSG00000100324	ENST00000216160;ENST00000331454	T;T	0.16743	2.32;2.32	4.89	4.89	0.63831	Protein phosphatase 2C-like (4);	0.146694	0.46758	D	0.000274	T	0.46521	0.1397	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.912;0.972;0.999	T	0.51052	-0.8754	10	0.72032	D	0.01	-14.7886	18.2498	0.89998	0.0:0.0:1.0:0.0	.	197;197;341	Q15750-2;Q15750;Q59FT7	.;TAB1_HUMAN;.	V	197	ENSP00000216160:G197V;ENSP00000333049:G197V	ENSP00000216160:G197V	G	+	2	0	TAB1	38144722	1.000000	0.71417	0.988000	0.46212	0.776000	0.43924	8.145000	0.89625	2.539000	0.85634	0.655000	0.94253	GGG		0.527	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		12	39	1	0	0.000151284	1	0.000154697	12	39				
BCORL1	63035	broad.mit.edu	37	X	129148510	129148510	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:129148510G>A	ENST00000218147.7	+	4	1959	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K	BCORL1_ENST00000540052.1_Missense_Mutation_p.E588K|BCORL1_ENST00000303743.5_Missense_Mutation_p.E588K|BCORL1_ENST00000359304.2_Missense_Mutation_p.E588K			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	588	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGTGGCACCGAGCAGCAAAC	0.612																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(1762-1764)Gag>Aag		BCL6 corepressor-like 1							67.0	57.0	60.0					X																	129148510		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129148510G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.1762G>A	X.37:g.129148510G>A	ENSP00000218147:p.Glu588Lys					BCORL1_ENST00000218147.7_Missense_Mutation_p.E588K|BCORL1_ENST00000303743.5_Missense_Mutation_p.E588K|BCORL1_ENST00000359304.2_Missense_Mutation_p.E588K	p.E588K	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	1806	+			588			Pro-rich.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.1762G>A	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.76|14.76	2.631250|2.631250	0.46944|0.46944	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822|ENST00000441294	T;T;T;T;T|.	0.51817|.	0.71;1.1;0.69;0.71;1.16|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.207707|.	0.24107|.	N|.	0.041486|.	T|T	0.51244|0.51244	0.1663|0.1663	L|L	0.27053|0.27053	0.805|0.805	0.33803|0.33803	D|D	0.626904|0.626904	D;D|.	0.76494|.	0.999;0.991|.	P;P|.	0.61201|.	0.885;0.546|.	T|T	0.59107|0.59107	-0.7516|-0.7516	10|5	0.16896|.	T|.	0.51|.	-13.6538|-13.6538	18.2929|18.2929	0.90136|0.90136	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	588;588|.	Q5H9F3-2;Q5H9F3|.	.;BCORL_HUMAN|.	K|Q	588;588;588;588;188|23	ENSP00000218147:E588K;ENSP00000307541:E588K;ENSP00000352253:E588K;ENSP00000437775:E588K;ENSP00000399483:E188K|.	ENSP00000218147:E588K|.	E|R	+|+	1|2	0|0	BCORL1|BCORL1	128976191|128976191	1.000000|1.000000	0.71417|0.71417	0.905000|0.905000	0.35620|0.35620	0.421000|0.421000	0.31385|0.31385	3.595000|3.595000	0.54016|0.54016	2.259000|2.259000	0.74868|0.74868	0.431000|0.431000	0.28591|0.28591	GAG|CGA		0.612	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		35	11	0	0	0	1	0	35	11				
COL27A1	85301	broad.mit.edu	37	9	117072950	117072950	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr9:117072950A>G	ENST00000356083.3	+	61	5949	c.5558A>G	c.(5557-5559)gAa>gGa	p.E1853G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1853	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TACCGCCTGGAAGTTGGACCT	0.607																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(5557-5559)gAa>gGa		collagen, type XXVII, alpha 1							159.0	118.0	132.0					9																	117072950		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117072950A>G	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5558A>G	9.37:g.117072950A>G	ENSP00000348385:p.Glu1853Gly						p.E1853G	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			61	5949	+			1853			Fibrillar collagen NC1.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.5558A>G	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.350259	0.61183	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	T	0.75704	-0.96	5.67	4.51	0.55191	Fibrillar collagen, C-terminal (4);	.	.	.	.	D	0.86711	0.5998	M	0.89414	3.03	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;D	0.81914	0.995;0.934	D	0.87488	0.2425	9	0.87932	D	0	.	10.3085	0.43695	0.8523:0.0:0.0:0.1477	.	168;1853	Q9HAA3;Q8IZC6	.;CORA1_HUMAN	G	1853;1860	ENSP00000348385:E1853G	ENSP00000348385:E1853G	E	+	2	0	COL27A1	116112771	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	0.947000	0.37659	0.459000	0.35465	GAA		0.607	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		11	29	0	0	0	1	0	11	29				
TNKS2	80351	broad.mit.edu	37	10	93572757	93572757	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:93572757G>A	ENST00000371627.4	+	2	596	c.217G>A	c.(217-219)Gta>Ata	p.V73I		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	73					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCGGAAAGACGTAGTTGAATA	0.383																																						ENST00000371627.4																			0				biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.(217-219)Gta>Ata		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2							182.0	161.0	168.0					10																	93572757		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93572757G>A	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.217G>A	10.37:g.93572757G>A	ENSP00000360689:p.Val73Ile						p.V73I	NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			2	596	+		Colorectal(252;0.162)	73					B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.217G>A	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123010	0.77436	.	.	ENSG00000107854	ENST00000371627	T	0.62498	0.02	5.79	5.79	0.91817	Ankyrin repeat-containing domain (4);	0.000000	0.49916	D	0.000140	T	0.44222	0.1283	N	0.02985	-0.445	0.58432	D	0.999999	B	0.25667	0.131	B	0.28638	0.092	T	0.43147	-0.9409	10	0.45353	T	0.12	.	20.0313	0.97540	0.0:0.0:1.0:0.0	.	73	Q9H2K2	TNKS2_HUMAN	I	73	ENSP00000360689:V73I	ENSP00000360689:V73I	V	+	1	0	TNKS2	93562737	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.722000	0.98770	2.746000	0.94184	0.655000	0.94253	GTA		0.383	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		8	72	0	0	0	1	0	8	72				
CCDC178	374864	broad.mit.edu	37	18	30950099	30950099	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr18:30950099A>G	ENST00000383096.3	-	6	445	c.263T>C	c.(262-264)gTa>gCa	p.V88A	CCDC178_ENST00000579916.1_Missense_Mutation_p.V88A|CCDC178_ENST00000402325.1_Missense_Mutation_p.V88A|CCDC178_ENST00000583930.1_Missense_Mutation_p.V88A|CCDC178_ENST00000579947.1_Missense_Mutation_p.V88A|CCDC178_ENST00000406524.2_Missense_Mutation_p.V88A|CCDC178_ENST00000403303.1_Missense_Mutation_p.V88A|CCDC178_ENST00000300227.8_Missense_Mutation_p.V88A			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	88																	AATATTTACTACGGCACAGCT	0.378																																						ENST00000383096.3																			0											c.(262-264)gTa>gCa		coiled-coil domain containing 178							86.0	78.0	81.0					18																	30950099		2203	4300	6503	SO:0001583	missense	374864							g.chr18:30950099A>G	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.263T>C	18.37:g.30950099A>G	ENSP00000372576:p.Val88Ala					CCDC178_ENST00000402325.1_Missense_Mutation_p.V88A|CCDC178_ENST00000403303.1_Missense_Mutation_p.V88A|CCDC178_ENST00000406524.2_Missense_Mutation_p.V88A|CCDC178_ENST00000579947.1_Missense_Mutation_p.V88A|CCDC178_ENST00000300227.8_Missense_Mutation_p.V88A|CCDC178_ENST00000583930.1_Missense_Mutation_p.V88A|CCDC178_ENST00000579916.1_Missense_Mutation_p.V88A	p.V88A							6	445	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.263T>C	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	A	4.539	0.100114	0.08731	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.50277	2.32;2.32;2.31;2.31;2.31;0.75	5.5	1.66	0.24008	.	.	.	.	.	T	0.34745	0.0908	L	0.40543	1.245	0.09310	N	1	B;P;B;B;B	0.37500	0.341;0.597;0.206;0.341;0.341	B;B;B;B;B	0.37047	0.085;0.24;0.085;0.085;0.085	T	0.25676	-1.0125	9	0.66056	D	0.02	0.5166	3.7125	0.08425	0.6684:0.0:0.1751:0.1565	.	88;88;88;88;88	F8W7A7;A1L4G8;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	A	88	ENSP00000385591:V88A;ENSP00000372576:V88A;ENSP00000300227:V88A;ENSP00000385867:V88A;ENSP00000385234:V88A;ENSP00000382130:V88A	ENSP00000300227:V88A	V	-	2	0	C18orf34	29204097	0.005000	0.15991	0.034000	0.17996	0.177000	0.22998	0.998000	0.29744	0.036000	0.15547	0.454000	0.30748	GTA		0.378	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		14	38	0	0	0	1	0	14	38				
RANBP9	10048	broad.mit.edu	37	6	13644861	13644861	+	Missense_Mutation	SNP	C	C	T	rs201882272		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr6:13644861C>T	ENST00000011619.3	-	6	1086	c.1028G>A	c.(1027-1029)cGg>cAg	p.R343Q	RANBP9_ENST00000539980.1_Missense_Mutation_p.R114Q	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	343					axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)	p.R343L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TCTCCACTCCCGCATATAGTC	0.433																																						ENST00000011619.3																			1	Substitution - Missense(1)	p.R343L(1)	lung(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(1027-1029)cGg>cAg		RAN binding protein 9							139.0	131.0	134.0					6																	13644861		2203	4300	6503	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13644861C>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1028G>A	6.37:g.13644861C>T	ENSP00000011619:p.Arg343Gln					RANBP9_ENST00000539980.1_Missense_Mutation_p.R114Q	p.R343Q	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		6	1086	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	343					A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.1028G>A	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450270	0.84101	.	.	ENSG00000010017	ENST00000011619;ENST00000539980	T;T	0.60299	0.2;0.2	5.17	5.17	0.71159	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.67468	0.2896	L	0.58101	1.795	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.64495	-0.6394	10	0.38643	T	0.18	-12.8075	19.037	0.92983	0.0:1.0:0.0:0.0	.	343	Q96S59	RANB9_HUMAN	Q	343;114	ENSP00000011619:R343Q;ENSP00000438162:R114Q	ENSP00000011619:R343Q	R	-	2	0	RANBP9	13752840	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	7.776000	0.85560	2.557000	0.86248	0.557000	0.71058	CGG		0.433	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			23	61	0	0	0	1	0	23	61				
NUF2	83540	broad.mit.edu	37	1	163317627	163317627	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:163317627C>T	ENST00000271452.3	+	12	1302	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	NUF2_ENST00000367900.3_Silent_p.F341F|NUF2_ENST00000524800.1_Silent_p.F294F	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	341	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AAAATTCGTTCAAAAGACTGA	0.338																																						ENST00000271452.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1021-1023)ttC>ttT		NUF2, NDC80 kinetochore complex component							83.0	84.0	83.0					1																	163317627		2203	4300	6503	SO:0001819	synonymous_variant	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163317627C>T	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1023C>T	1.37:g.163317627C>T						NUF2_ENST00000524800.1_Silent_p.F294F|NUF2_ENST00000367900.3_Silent_p.F341F	p.F341F	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN			12	1302	+	all_hematologic(923;0.101)		341			Interaction with the N-terminus of NDC80.		Q8WU69|Q96HJ4|Q96Q78	Silent	SNP	ENST00000271452.3	37	c.1023C>T	CCDS1245.1																																																																																				0.338	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		4	34	0	0	0	1	0	4	34				
MED15	51586	broad.mit.edu	37	22	20939447	20939447	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr22:20939447C>T	ENST00000263205.7	+	16	2093	c.2024C>T	c.(2023-2025)cCc>cTc	p.P675L	MED15_ENST00000406969.1_Missense_Mutation_p.P609L|MED15_ENST00000292733.7_Missense_Mutation_p.P635L|MED15_ENST00000382974.2_Missense_Mutation_p.P564L|MED15_ENST00000425759.2_Missense_Mutation_p.P524L|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000541476.1_Missense_Mutation_p.P609L	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	675					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CAGAGCATCCCCAGTGTGCTC	0.642																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(2023-2025)cCc>cTc		mediator complex subunit 15							84.0	67.0	73.0					22																	20939447		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20939447C>T	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.2024C>T	22.37:g.20939447C>T	ENSP00000263205:p.Pro675Leu					MED15_ENST00000541476.1_Missense_Mutation_p.P609L|MED15_ENST00000292733.7_Missense_Mutation_p.P635L|MED15_ENST00000406969.1_Missense_Mutation_p.P609L|MED15_ENST00000425759.2_Missense_Mutation_p.P524L|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.P564L	p.P675L	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		16	2093	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	675					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.2024C>T	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980091	0.74474	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	4.68	4.68	0.58851	Mediator complex, subunit Med15, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.79787	0.4506	M	0.80332	2.49	0.80722	D	1	D;D;B;D;P;D	0.89917	1.0;1.0;0.121;1.0;0.946;1.0	D;D;B;D;P;D	0.91635	0.999;0.999;0.069;0.998;0.507;0.999	T	0.83168	-0.0095	9	0.87932	D	0	.	15.4264	0.75055	0.0:1.0:0.0:0.0	.	605;654;291;609;635;675	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	L	524;635;675;609;564;609;605	.	ENSP00000263205:P675L	P	+	2	0	MED15	19269447	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	7.566000	0.82347	2.308000	0.77769	0.313000	0.20887	CCC		0.642	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		19	27	0	0	0	1	0	19	27				
EVPL	2125	broad.mit.edu	37	17	74013981	74013981	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:74013981A>C	ENST00000301607.3	-	14	1802	c.1549T>G	c.(1549-1551)Tca>Gca	p.S517A	EVPL_ENST00000586740.1_Missense_Mutation_p.S539A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	517	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCCAGGTCTGAGCCAGATGGA	0.657																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(1549-1551)Tca>Gca		envoplakin							39.0	42.0	41.0					17																	74013981		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74013981A>C	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1549T>G	17.37:g.74013981A>C	ENSP00000301607:p.Ser517Ala					EVPL_ENST00000586740.1_Missense_Mutation_p.S539A	p.S517A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			14	1802	-			517			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.1549T>G	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	A	8.785	0.929177	0.18131	.	.	ENSG00000167880	ENST00000301607	T	0.63913	-0.07	4.88	-1.67	0.08238	.	0.237968	0.35235	N	0.003355	T	0.42154	0.1190	L	0.55103	1.725	0.09310	N	1	B;B	0.27229	0.047;0.172	B;B	0.25140	0.013;0.058	T	0.14559	-1.0468	10	0.10902	T	0.67	-0.644	1.4451	0.02362	0.3233:0.1629:0.3558:0.158	.	539;517	B7ZLH8;Q92817	.;EVPL_HUMAN	A	517	ENSP00000301607:S517A	ENSP00000301607:S517A	S	-	1	0	EVPL	71525576	0.001000	0.12720	0.013000	0.15412	0.047000	0.14425	0.053000	0.14184	0.003000	0.14656	0.459000	0.35465	TCA		0.657	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		10	19	0	0	0	1	0	10	19				
MYBPHL	343263	broad.mit.edu	37	1	109838900	109838900	+	Missense_Mutation	SNP	C	C	T	rs142341673		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:109838900C>T	ENST00000357155.1	-	6	872	c.823G>A	c.(823-825)Ggc>Agc	p.G275S	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	275	Ig-like C2-type 2.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GTATTATAGCCGGTGACTGTA	0.592																																						ENST00000357155.1																			0				central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14						c.(823-825)Ggc>Agc		myosin binding protein H-like		C	SER/GLY	0,4406		0,0,2203	96.0	104.0	101.0		823	4.2	0.9	1	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYBPHL	NM_001010985.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	275/355	109838900	1,13005	2203	4300	6503	SO:0001583	missense	343263							g.chr1:109838900C>T	AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.823G>A	1.37:g.109838900C>T	ENSP00000349678:p.Gly275Ser					MYBPHL_ENST00000477962.1_Intron	p.G275S	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)	6	872	-		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)	275			Ig-like C2-type 2.		B7ZME5|Q5T2Z7	Missense_Mutation	SNP	ENST00000357155.1	37	c.823G>A	CCDS30793.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887031	0.91814	0.0	1.16E-4	ENSG00000221986	ENST00000357155	T	0.81163	-1.46	5.16	4.23	0.50019	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90113	0.6911	M	0.93678	3.445	0.53688	D	0.999971	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	D	0.90615	0.4555	9	0.56958	D	0.05	.	11.7932	0.52082	0.0:0.913:0.0:0.087	.	252;275	B7ZME5;A2RUH7	.;MBPHL_HUMAN	S	275	ENSP00000349678:G275S	ENSP00000349678:G275S	G	-	1	0	MYBPHL	109640423	0.997000	0.39634	0.939000	0.37840	0.922000	0.55478	3.623000	0.54224	2.698000	0.92095	0.561000	0.74099	GGC		0.592	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985		8	40	0	0	0	1	0	8	40				
ZNF75D	7626	broad.mit.edu	37	X	134427900	134427900	+	Missense_Mutation	SNP	C	C	T	rs148068840		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:134427900C>T	ENST00000370766.3	-	3	2876	c.167G>A	c.(166-168)cGt>cAt	p.R56H	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.R56H	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	56	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTCATGATAACGGAAGCTCCA	0.478																																						ENST00000370766.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(166-168)cGt>cAt		zinc finger protein 75D		C	HIS/ARG,HIS/ARG	0,3835		0,0,1632,571	93.0	81.0	85.0		167,167	-3.4	0.0	X	dbSNP_134	85	1,6727		0,1,2427,1872	no	missense,missense	ZNF75D	NM_001185063.1,NM_007131.3	29,29	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign,benign	56/416,56/511	134427900	1,10562	2203	4300	6503	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134427900C>T	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.167G>A	X.37:g.134427900C>T	ENSP00000359802:p.Arg56His					ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.R56H	p.R56H	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN			3	2876	-			56			SCAN box.		A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.167G>A	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	C	8.261	0.811228	0.16537	0.0	1.49E-4	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.04317	3.65;3.65	2.96	-3.41	0.04839	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.02342	0.0072	N	0.13003	0.285	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.04013	0.001;0.001	T	0.48305	-0.9047	9	0.15499	T	0.54	.	5.1084	0.14796	0.1909:0.6096:0.0:0.1995	.	56;56	P51815;A6NK62	ZN75D_HUMAN;.	H	56	ENSP00000359802:R56H;ENSP00000359800:R56H	ENSP00000359800:R56H	R	-	2	0	ZNF75D	134255566	0.816000	0.29132	0.000000	0.03702	0.043000	0.13939	-0.649000	0.05384	-0.832000	0.04251	-0.514000	0.04452	CGT		0.478	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		4	54	0	0	0	1	0	4	54				
ZNF19	7567	broad.mit.edu	37	16	71516014	71516014	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:71516014C>T	ENST00000288177.5	-	3	259	c.4G>A	c.(4-6)Gca>Aca	p.A2T	ZNF19_ENST00000564230.1_Missense_Mutation_p.A2T|ZNF19_ENST00000565637.1_Intron|AC010547.9_ENST00000561908.1_Missense_Mutation_p.A2T|ZNF19_ENST00000565100.2_5'UTR|ZNF19_ENST00000568446.1_5'Flank|ZNF19_ENST00000567225.1_Missense_Mutation_p.A2T	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		GGCATGGCTGCCATGACCTGG	0.493																																						ENST00000561908.1																			0											c.(4-6)Gca>Aca									61.0	50.0	53.0					16																	71516014		2198	4300	6498	SO:0001583	missense	0							g.chr16:71516014C>T	X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"""Zinc fingers, C2H2-type"", ""-"""	12981	protein-coding gene	gene with protein product		194525	"""zinc finger protein 19 (KOX 12)"""			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.4G>A	16.37:g.71516014C>T	ENSP00000288177:p.Ala2Thr					ZNF19_ENST00000564230.1_Missense_Mutation_p.A2T|ZNF19_ENST00000565100.2_5'UTR|ZNF19_ENST00000567225.1_Missense_Mutation_p.A2T|ZNF19_ENST00000288177.5_Missense_Mutation_p.A2T|ZNF19_ENST00000565637.1_Intron	p.A2T							3	506	-								A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	37	c.4G>A	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165405	0.38217	.	.	ENSG00000157429	ENST00000288177	T	0.06068	3.35	2.76	-1.62	0.08372	.	.	.	.	.	T	0.05547	0.0146	L	0.51914	1.62	0.21527	N	0.999654	B	0.14805	0.011	B	0.08055	0.003	T	0.40213	-0.9575	9	0.41790	T	0.15	.	2.6199	0.04913	0.2154:0.3819:0.0:0.4026	.	2	P17023	ZNF19_HUMAN	T	2	ENSP00000288177:A2T	ENSP00000288177:A2T	A	-	1	0	ZNF19	70073515	0.963000	0.33076	0.833000	0.33012	0.222000	0.24845	-0.122000	0.10627	-0.343000	0.08351	0.591000	0.81541	GCA		0.493	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961		10	11	0	0	0	1	0	10	11				
POTEA	340441	broad.mit.edu	37	8	43147834	43147834	+	RNA	SNP	C	C	G	rs369755127		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:43147834C>G	ENST00000522175.2	+	0	209							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGGCAAGCTCCACAGAGCTG	0.582																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A							54.0	59.0	58.0					8																	43147834		2203	4300	6503			340441							g.chr8:43147834C>G	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43147834C>G										Q6S8J7	POTEA_HUMAN			0	209	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.582	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		17	40	0	0	0	1	0	17	40				
ZC3H6	376940	broad.mit.edu	37	2	113069447	113069447	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:113069447G>A	ENST00000409871.1	+	5	1081	c.680G>A	c.(679-681)cGa>cAa	p.R227Q	ZC3H6_ENST00000343936.4_Missense_Mutation_p.R227Q	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	227							metal ion binding (GO:0046872)	p.R227Q(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AAAATCAAACGAAAAGAACGT	0.368																																						ENST00000409871.1																			1	Substitution - Missense(1)	p.R227Q(1)	large_intestine(1)	central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(679-681)cGa>cAa		zinc finger CCCH-type containing 6							74.0	77.0	76.0					2																	113069447		1837	4084	5921	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113069447G>A	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.680G>A	2.37:g.113069447G>A	ENSP00000386764:p.Arg227Gln					ZC3H6_ENST00000343936.4_Missense_Mutation_p.R227Q	p.R227Q	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN			5	1081	+			227					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.680G>A	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437117	0.83885	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.15718	2.4;2.4	4.98	4.98	0.66077	.	0.414610	0.23752	N	0.044912	T	0.29028	0.0721	M	0.71581	2.175	0.33744	D	0.619769	D	0.62365	0.991	P	0.51895	0.683	T	0.44847	-0.9301	10	0.49607	T	0.09	-11.0204	10.8063	0.46520	0.0887:0.0:0.9113:0.0	.	227	P61129	ZC3H6_HUMAN	Q	227;227;204	ENSP00000386764:R227Q;ENSP00000340298:R227Q	ENSP00000340298:R227Q	R	+	2	0	ZC3H6	112785918	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.071000	0.57556	2.473000	0.83533	0.462000	0.41574	CGA		0.368	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		9	21	0	0	0	1	0	9	21				
IL2RB	3560	broad.mit.edu	37	22	37524301	37524301	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr22:37524301C>T	ENST00000216223.5	-	10	1689	c.1491G>A	c.(1489-1491)ggG>ggA	p.G497G		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	497					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGACCTCCTCCCCAGCCTCTC	0.692																																						ENST00000216223.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(1489-1491)ggG>ggA		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						24.0	27.0	26.0					22																	37524301		2202	4288	6490	SO:0001819	synonymous_variant	0				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524301C>T	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1491G>A	22.37:g.37524301C>T							p.G497G	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN			10	1689	-			497					B2R765	Silent	SNP	ENST00000216223.5	37	c.1491G>A	CCDS13942.1																																																																																				0.692	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			6	15	0	0	0	1	0	6	15				
MUC3A	4584	broad.mit.edu	37	7	100607859	100607859	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:100607859C>T	ENST00000319509.7	+	5	2006	c.2006C>T	c.(2005-2007)gCc>gTc	p.A669V	RP11-395B7.2_ENST00000420080.1_RNA|RP11-395B7.2_ENST00000434775.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2334	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTCCAGAACGCCAGCCAGGAT	0.662																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(2005-2007)gCc>gTc		mucin 3A, cell surface associated							54.0	50.0	52.0					7																	100607859		876	1991	2867	SO:0001583	missense	4584							g.chr7:100607859C>T	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.2006C>T	7.37:g.100607859C>T	ENSP00000324834:p.Ala669Val					RP11-395B7.2_ENST00000420080.1_RNA	p.A669V							5	2006	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Missense_Mutation	SNP	ENST00000319509.7	37	c.2006C>T		.	.	.	.	.	.	.	.	.	.	C	8.770	0.925705	0.18056	.	.	ENSG00000169894	ENST00000319509;ENST00000422757	T;T	0.31247	1.5;1.5	2.96	0.86	0.19042	SEA (2);	.	.	.	.	T	0.12860	0.0312	N	0.03948	-0.315	.	.	.	B	0.23735	0.09	B	0.31869	0.137	T	0.37957	-0.9683	8	0.19147	T	0.46	-3.3502	5.3362	0.15959	0.0:0.6482:0.0:0.3518	.	2334	Q02505	MUC3A_HUMAN	V	669;159	ENSP00000324834:A669V;ENSP00000406404:A159V	ENSP00000324834:A669V	A	+	2	0	MUC3A	100394579	0.001000	0.12720	0.210000	0.23637	0.093000	0.18481	-0.008000	0.12788	0.017000	0.15025	0.514000	0.50259	GCC		0.662	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		9	21	0	0	0	1	0	9	21				
EPHA2	1969	broad.mit.edu	37	1	16458599	16458599	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:16458599C>T	ENST00000358432.5	-	13	2439	c.2285G>A	c.(2284-2286)cGc>cAc	p.R762H		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	762	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CTCCAGCACGCGGGACAGGCC	0.607																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(2284-2286)cGc>cAc		EPH receptor A2	Dasatinib(DB01254)						134.0	118.0	124.0					1																	16458599		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16458599C>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2285G>A	1.37:g.16458599C>T	ENSP00000351209:p.Arg762His						p.R762H	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	13	2439	-		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)	762			Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.2285G>A	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	36	5.680131	0.96774	.	.	ENSG00000142627	ENST00000358432	D	0.85258	-1.96	6.07	6.07	0.98685	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000021	D	0.94221	0.8145	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94700	0.7882	10	0.87932	D	0	.	18.1378	0.89627	0.0:1.0:0.0:0.0	.	762	P29317	EPHA2_HUMAN	H	762	ENSP00000351209:R762H	ENSP00000351209:R762H	R	-	2	0	EPHA2	16331186	1.000000	0.71417	0.973000	0.42090	0.963000	0.63663	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	CGC		0.607	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		11	67	0	0	0	1	0	11	67				
AKAP9	10142	broad.mit.edu	37	7	91726086	91726086	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:91726086C>T	ENST00000359028.2	+	41	10050	c.9825C>T	c.(9823-9825)aaC>aaT	p.N3275N	AKAP9_ENST00000356239.3_Silent_p.N3271N|AKAP9_ENST00000358100.2_Silent_p.N3221N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3275					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACTACTGAACGAATCCCAGC	0.383			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(9823-9825)aaC>aaT		A kinase (PRKA) anchor protein 9							64.0	67.0	66.0					7																	91726086		2203	4299	6502	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91726086C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9825C>T	7.37:g.91726086C>T						AKAP9_ENST00000358100.2_Silent_p.N3221N|AKAP9_ENST00000356239.3_Silent_p.N3271N	p.N3275N			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		41	10050	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3275					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.9825C>T																																																																																					0.383	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		6	69	0	0	0	1	0	6	69				
RPTN	126638	broad.mit.edu	37	1	152128424	152128424	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:152128424G>A	ENST00000316073.3	-	3	1215	c.1151C>T	c.(1150-1152)aCa>aTa	p.T384I		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	384	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGATCTTGTGTGTCTGGCTG	0.473																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1150-1152)aCa>aTa		repetin							804.0	694.0	728.0					1																	152128424		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128424G>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1151C>T	1.37:g.152128424G>A	ENSP00000317895:p.Thr384Ile						p.T384I	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1215	-			384			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1151C>T	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	c	15.07	2.725335	0.48833	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.12672	2.66	4.37	-0.105	0.13601	.	.	.	.	.	T	0.02047	0.0064	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45160	-0.9280	9	0.37606	T	0.19	.	10.724	0.46057	0.1401:0.3075:0.5524:0.0	.	384	Q6XPR3	RPTN_HUMAN	I	384;39	ENSP00000317895:T384I	ENSP00000317895:T384I	T	-	2	0	RPTN	150395048	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.259000	0.01178	-0.378000	0.07918	-0.734000	0.03567	ACA		0.473	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		27	676	0	0	0	1	0	27	676				
TTC13	79573	broad.mit.edu	37	1	231057237	231057237	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:231057237T>C	ENST00000366661.4	-	16	1835	c.1828A>G	c.(1828-1830)Aac>Gac	p.N610D	TTC13_ENST00000414259.1_Missense_Mutation_p.N557D|TTC13_ENST00000366662.4_Missense_Mutation_p.N557D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	610										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TATCTCATGTTGATCACCTGA	0.259																																						ENST00000366661.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1828-1830)Aac>Gac		tetratricopeptide repeat domain 13							34.0	36.0	36.0					1																	231057237		2176	4269	6445	SO:0001583	missense	79573						binding	g.chr1:231057237T>C		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1828A>G	1.37:g.231057237T>C	ENSP00000355621:p.Asn610Asp					TTC13_ENST00000366662.4_Missense_Mutation_p.N557D|TTC13_ENST00000414259.1_Missense_Mutation_p.N557D	p.N610D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	16	1835	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	610					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.1828A>G	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.810989	0.70797	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259;ENST00000486879	T;T;T	0.47528	0.84;0.89;0.89	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	L	0.54323	1.7	0.80722	D	1	P;D;P;P	0.69078	0.476;0.997;0.859;0.618	B;D;B;B	0.73380	0.094;0.98;0.41;0.222	T	0.56649	-0.7944	10	0.18710	T	0.47	-16.5444	15.8221	0.78662	0.0:0.0:0.0:1.0	.	535;557;557;610	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	D	610;557;557;44	ENSP00000355621:N610D;ENSP00000355622:N557D;ENSP00000416631:N557D	ENSP00000355621:N610D	N	-	1	0	TTC13	229123860	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.779000	0.85648	2.139000	0.66308	0.533000	0.62120	AAC		0.259	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		6	47	0	0	0	1	0	6	47				
SURF6	6838	broad.mit.edu	37	9	136199101	136199101	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr9:136199101C>T	ENST00000372022.4	-	5	955	c.690G>A	c.(688-690)ccG>ccA	p.P230P	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	230					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		TCCCGGTCAGCGGCGTGAGGT	0.672																																						ENST00000372022.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12						c.(688-690)ccG>ccA		surfeit 6							54.0	59.0	57.0					9																	136199101		2203	4293	6496	SO:0001819	synonymous_variant	6838					granular component	DNA binding|RNA binding	g.chr9:136199101C>T	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"""surfeit locus protein 6"""	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.690G>A	9.37:g.136199101C>T						SURF6_ENST00000468290.1_5'UTR	p.P230P	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)	5	955	-			230					Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Silent	SNP	ENST00000372022.4	37	c.690G>A	CCDS6962.1																																																																																				0.672	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1	NM_006753		11	39	0	0	0	1	0	11	39				
GRK6	2870	broad.mit.edu	37	5	176859091	176859091	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:176859091G>A	ENST00000355472.5	+	3	412	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	GRK6_ENST00000528793.1_Missense_Mutation_p.A82T|GRK6_ENST00000393576.3_Missense_Mutation_p.A82T|GRK6_ENST00000355958.5_Missense_Mutation_p.A82T|GRK6_ENST00000507633.1_Missense_Mutation_p.A82T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	82	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGCTGCGTCGCCTTCCTGGA	0.687																																						ENST00000355472.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(244-246)Gcc>Acc		G protein-coupled receptor kinase 6							52.0	55.0	54.0					5																	176859091		2203	4300	6503	SO:0001583	missense	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176859091G>A		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.244G>A	5.37:g.176859091G>A	ENSP00000347655:p.Ala82Thr					GRK6_ENST00000507633.1_Missense_Mutation_p.A82T|GRK6_ENST00000528793.1_Missense_Mutation_p.A82T|GRK6_ENST00000393576.3_Missense_Mutation_p.A82T|GRK6_ENST00000355958.5_Missense_Mutation_p.A82T	p.A82T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	412	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	82			N-terminal.|RGS.		O60541|Q13652	Missense_Mutation	SNP	ENST00000355472.5	37	c.244G>A	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047044	0.36085	.	.	ENSG00000198055	ENST00000502598;ENST00000506296;ENST00000511244;ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793	T;T;T;T;T;T;T;T	0.01981	4.52;4.52;4.52;4.52;4.52;4.52;4.52;4.52	5.26	2.28	0.28536	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.409344	0.26883	N	0.022002	T	0.00998	0.0033	N	0.04880	-0.145	0.29643	N	0.844566	B;B;B;B	0.26041	0.02;0.021;0.09;0.14	B;B;B;B	0.14578	0.003;0.011;0.006;0.011	T	0.39881	-0.9592	10	0.30078	T	0.28	-14.3538	1.1054	0.01693	0.2691:0.1575:0.4118:0.1616	.	82;52;82;82	P43250;B3KPS5;P43250-2;D6RHX8	GRK6_HUMAN;.;.;.	T	50;50;50;82;82;82;82;82	ENSP00000422873:A50T;ENSP00000421055:A50T;ENSP00000425391:A50T;ENSP00000347655:A82T;ENSP00000427581:A82T;ENSP00000377204:A82T;ENSP00000348230:A82T;ENSP00000433511:A82T	ENSP00000347655:A82T	A	+	1	0	GRK6	176791697	0.000000	0.05858	0.889000	0.34880	0.559000	0.35586	0.739000	0.26173	1.214000	0.43395	-0.254000	0.11334	GCC		0.687	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		23	42	0	0	0	1	0	23	42				
TOP1MT	116447	broad.mit.edu	37	8	144406194	144406194	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:144406194G>T	ENST00000329245.4	-	7	969	c.935C>A	c.(934-936)gCg>gAg	p.A312E	TOP1MT_ENST00000521193.1_Missense_Mutation_p.A214E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.A214E|TOP1MT_ENST00000523676.1_Missense_Mutation_p.A214E	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	312					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CAGGGCCACCGCCCGCTGTCT	0.582																																						ENST00000523676.1																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23						c.(640-642)gCg>gAg		topoisomerase (DNA) I, mitochondrial	Irinotecan(DB00762)|Topotecan(DB01030)						93.0	101.0	98.0					8																	144406194		2203	4300	6503	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144406194G>T	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.935C>A	8.37:g.144406194G>T	ENSP00000328835:p.Ala312Glu					TOP1MT_ENST00000329245.4_Missense_Mutation_p.A312E|TOP1MT_ENST00000521193.1_Missense_Mutation_p.A214E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.A214E	p.A214E			Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		8	1046	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		312					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.641C>A	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566238	0.65651	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676;ENST00000522041	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	3.67	0.491	0.16867	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);DNA topoisomerase I, C-terminal (1);DNA topoisomerase I, catalytic core, alpha-helical subdomain, eukaryotic-type (1);	0.000000	0.42964	U	0.000625	D	0.84817	0.5556	H	0.97103	3.94	0.29506	N	0.854557	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.79652	-0.1714	10	0.87932	D	0	-4.1936	8.7369	0.34534	0.0:0.3074:0.5341:0.1585	.	107;312	E7ESI1;Q969P6	.;TOP1M_HUMAN	E	312;214;214;214;214	ENSP00000328835:A312E;ENSP00000428369:A214E;ENSP00000429169:A214E;ENSP00000429181:A214E;ENSP00000427998:A214E	ENSP00000328835:A312E	A	-	2	0	TOP1MT	144477569	0.994000	0.37717	0.000000	0.03702	0.285000	0.27093	5.047000	0.64232	-0.328000	0.08539	0.411000	0.27672	GCG		0.582	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		21	46	1	0	1.00905e-13	1	1.0834e-13	21	46				
DAGLA	747	broad.mit.edu	37	11	61495643	61495643	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:61495643G>A	ENST00000257215.5	+	7	771	c.655G>A	c.(655-657)Gcc>Acc	p.A219T		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	219					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTCAGAAATCGCCTACCTCTT	0.617																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(655-657)Gcc>Acc		diacylglycerol lipase, alpha							191.0	174.0	179.0					11																	61495643		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61495643G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.655G>A	11.37:g.61495643G>A	ENSP00000257215:p.Ala219Thr						p.A219T	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	7	771	+			219					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.655G>A	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133867	0.94517	.	.	ENSG00000134780	ENST00000257215	T	0.55930	0.49	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.74496	0.3724	M	0.80847	2.515	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.78583	-0.2148	10	0.66056	D	0.02	-33.4404	18.4262	0.90610	0.0:0.0:1.0:0.0	.	219	Q9Y4D2	DGLA_HUMAN	T	219	ENSP00000257215:A219T	ENSP00000257215:A219T	A	+	1	0	DAGLA	61252219	1.000000	0.71417	0.999000	0.59377	0.829000	0.46940	9.359000	0.97115	2.430000	0.82344	0.555000	0.69702	GCC		0.617	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		5	77	0	0	0	1	0	5	77				
AHSA1	10598	broad.mit.edu	37	14	77935578	77935578	+	Missense_Mutation	SNP	G	G	A	rs141659647		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:77935578G>A	ENST00000216479.3	+	9	1163	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	AHSA1_ENST00000555457.1_3'UTR|SNORA46_ENST00000391069.1_RNA	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	335					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGGCTATGGCGCACGCTTATT	0.587																																						ENST00000216479.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8						c.(1003-1005)Gca>Aca		AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)		G	THR/ALA	0,4406		0,0,2203	129.0	123.0	125.0		1003	6.0	1.0	14	dbSNP_134	125	2,8598	2.2+/-6.3	0,2,4298	no	missense	AHSA1	NM_012111.2	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	335/339	77935578	2,13004	2203	4300	6503	SO:0001583	missense	10598				protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding	g.chr14:77935578G>A	AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"""chromosome 14 open reading frame 3"""	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.1003G>A	14.37:g.77935578G>A	ENSP00000216479:p.Ala335Thr					AHSA1_ENST00000555457.1_3'UTR	p.A335T	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	9	1163	+			335					B2R9L2|B4DUR9|Q96IL6|Q9P060	Missense_Mutation	SNP	ENST00000216479.3	37	c.1003G>A	CCDS9863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.848571|4.848571	0.91277|0.91277	0.0|0.0	2.33E-4|2.33E-4	ENSG00000100591|ENSG00000100591	ENST00000555133;ENST00000216479;ENST00000557476|ENST00000555729	T|.	0.44083|.	0.93|.	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69369|0.69369	0.3103|0.3103	L|L	0.43554|0.43554	1.36|1.36	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.78314|.	0.991|.	T|T	0.62511|0.62511	-0.6839|-0.6839	10|5	0.22706|.	T|.	0.39|.	-15.5019|-15.5019	20.4574|20.4574	0.99148|0.99148	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	335|.	O95433|.	AHSA1_HUMAN|.	T|H	200;335;117|129	ENSP00000451474:A117T|.	ENSP00000216479:A335T|.	A|R	+|+	1|2	0|0	AHSA1|AHSA1	77005331|77005331	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.994000|0.994000	0.84299|0.84299	7.810000|7.810000	0.86072|0.86072	2.843000|2.843000	0.97960|0.97960	0.591000|0.591000	0.81541|0.81541	GCA|CGC		0.587	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414017.1	NM_012111		26	69	0	0	0	1	0	26	69				
MKI67	4288	broad.mit.edu	37	10	129899559	129899559	+	Missense_Mutation	SNP	G	G	A	rs372006869		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:129899559G>A	ENST00000368654.3	-	14	10043	c.9668C>T	c.(9667-9669)aCg>aTg	p.T3223M	MKI67_ENST00000368653.3_Missense_Mutation_p.T2863M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3223					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GACACTCCGCGTTACTCTCTG	0.433																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(9667-9669)aCg>aTg		marker of proliferation Ki-67		G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	136.0	125.0	129.0		8588,9668	1.6	0.0	10		129	0,8600		0,0,4300	no	missense,missense	MKI67	NM_001145966.1,NM_002417.4	81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	2863/2897,3223/3257	129899559	1,13005	2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129899559G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9668C>T	10.37:g.129899559G>A	ENSP00000357643:p.Thr3223Met					MKI67_ENST00000368653.3_Missense_Mutation_p.T2863M	p.T3223M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			14	10043	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	3223					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.9668C>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	7.300	0.612871	0.14066	2.27E-4	0.0	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03330	4.01;3.97	3.43	1.57	0.23409	.	0.496991	0.17099	N	0.187079	T	0.02649	0.0080	L	0.27053	0.805	0.09310	N	1	P;P	0.50443	0.935;0.893	B;B	0.40864	0.342;0.142	T	0.46992	-0.9151	10	0.46703	T	0.11	.	4.9028	0.13782	0.1202:0.2184:0.6614:0.0	.	2863;3223	P46013-2;P46013	.;KI67_HUMAN	M	3223;2863;3222	ENSP00000357643:T3223M;ENSP00000357642:T2863M	ENSP00000357642:T2863M	T	-	2	0	MKI67	129789549	0.010000	0.17322	0.000000	0.03702	0.000000	0.00434	0.993000	0.29680	0.458000	0.26988	-0.150000	0.13652	ACG		0.433	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		7	74	0	0	0	1	0	7	74				
APLP1	333	broad.mit.edu	37	19	36363411	36363411	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:36363411G>A	ENST00000221891.4	+	7	1069	c.877G>A	c.(877-879)Ggt>Agt	p.G293S	APLP1_ENST00000537454.2_Missense_Mutation_p.G254S|APLP1_ENST00000586861.1_Missense_Mutation_p.G287S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	293	O-glycosylated at three sites.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCCACAGACGGTGTGGATAT	0.567																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(877-879)Ggt>Agt		amyloid beta (A4) precursor-like protein 1							164.0	160.0	162.0					19																	36363411		2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36363411G>A	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.877G>A	19.37:g.36363411G>A	ENSP00000221891:p.Gly293Ser					APLP1_ENST00000586861.1_Missense_Mutation_p.G287S|APLP1_ENST00000537454.2_Missense_Mutation_p.G254S	p.G293S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	1069	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		293					O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.877G>A	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361981	0.82353	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.48201	0.82;0.82	4.89	4.89	0.63831	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.48767	D	0.000173	T	0.62660	0.2446	L	0.51422	1.61	0.54753	D	0.999989	D;D;D;D	0.89917	1.0;0.97;1.0;1.0	D;P;D;D	0.91635	0.999;0.765;0.999;0.999	T	0.61628	-0.7024	10	0.41790	T	0.15	-14.0496	15.5407	0.76043	0.0:0.0:1.0:0.0	.	287;254;293;293	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	S	254;293	ENSP00000441501:G254S;ENSP00000221891:G293S	ENSP00000221891:G293S	G	+	1	0	APLP1	41055251	1.000000	0.71417	0.975000	0.42487	0.478000	0.33099	8.567000	0.90737	2.270000	0.75569	0.462000	0.41574	GGT		0.567	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		26	87	0	0	0	1	0	26	87				
PLCE1	51196	broad.mit.edu	37	10	96081787	96081787	+	Missense_Mutation	SNP	G	G	A	rs200549010		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:96081787G>A	ENST00000371380.3	+	29	6707	c.6472G>A	c.(6472-6474)Gtc>Atc	p.V2158I	PLCE1_ENST00000371385.3_Missense_Mutation_p.V1850I|NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000260766.3_Missense_Mutation_p.V2158I|PLCE1_ENST00000371375.1_Missense_Mutation_p.V1850I			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2158	Ras-associating 2. {ECO:0000255|PROSITE- ProRule:PRU00166}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGCACCCCGCGTCAGCACTGC	0.478																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(6472-6474)Gtc>Atc		phospholipase C, epsilon 1							101.0	104.0	103.0					10																	96081787		2078	4220	6298	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96081787G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.6472G>A	10.37:g.96081787G>A	ENSP00000360431:p.Val2158Ile					PLCE1_ENST00000371375.1_Missense_Mutation_p.V1850I|PLCE1_ENST00000371385.3_Missense_Mutation_p.V1850I|PLCE1_ENST00000371380.2_Missense_Mutation_p.V2158I|NOC3L_ENST00000543788.1_Intron	p.V2158I	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			30	7106	+		Colorectal(252;0.0458)	2158			Ras-associating 2.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.6472G>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861629	0.32884	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	6.02	2.04	0.26737	Ras-association (3);	0.219672	0.40144	N	0.001167	T	0.08758	0.0217	N	0.22421	0.69	0.53688	D	0.999975	B;B;B	0.23937	0.094;0.036;0.094	B;B;B	0.25884	0.064;0.023;0.064	T	0.25047	-1.0143	10	0.22706	T	0.39	.	3.0153	0.06058	0.1309:0.2977:0.3761:0.1953	.	2142;1850;2158	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	I	2158;2158;1850;1850	ENSP00000260766:V2158I;ENSP00000360431:V2158I;ENSP00000360438:V1850I;ENSP00000360426:V1850I	ENSP00000260766:V2158I	V	+	1	0	PLCE1	96071777	0.984000	0.35163	0.453000	0.27007	0.908000	0.53690	1.943000	0.40253	0.457000	0.26962	-0.150000	0.13652	GTC		0.478	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		14	23	0	0	0	1	0	14	23				
KIF16B	55614	broad.mit.edu	37	20	16359674	16359674	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr20:16359674C>A	ENST00000354981.2	-	19	3130	c.2973G>T	c.(2971-2973)aaG>aaT	p.K991N	KIF16B_ENST00000408042.1_Missense_Mutation_p.K991N|KIF16B_ENST00000378003.2_Missense_Mutation_p.K217N|KIF16B_ENST00000355755.3_Missense_Mutation_p.K991N	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	991	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCAAAATCTCCTTTTCCTTTT	0.547																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(2971-2973)aaG>aaT		kinesin family member 16B							132.0	134.0	133.0					20																	16359674		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359674C>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2973G>T	20.37:g.16359674C>A	ENSP00000347076:p.Lys991Asn					KIF16B_ENST00000355755.3_Missense_Mutation_p.K991N|KIF16B_ENST00000378003.2_Missense_Mutation_p.K217N|KIF16B_ENST00000408042.1_Missense_Mutation_p.K991N	p.K991N	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	3130	-			991			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.2973G>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808132	0.70797	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.77489	-1.02;-1.02;1.94;-1.1	5.52	0.861	0.19048	.	0.047866	0.85682	D	0.000000	T	0.81513	0.4838	L	0.59436	1.845	0.44061	D	0.996801	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.87578	0.997;0.998;0.982;0.937	T	0.76822	-0.2817	10	0.38643	T	0.18	.	6.7644	0.23558	0.0:0.3983:0.0:0.6017	.	991;991;991;991	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	N	991;991;835;217;991	ENSP00000347076:K991N;ENSP00000347995:K991N;ENSP00000367242:K217N;ENSP00000384164:K991N	ENSP00000347076:K991N	K	-	3	2	KIF16B	16307674	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	0.941000	0.29005	0.388000	0.25054	0.655000	0.94253	AAG		0.547	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		31	78	1	0	1.75199e-13	1	1.87614e-13	31	78				
PLAA	9373	broad.mit.edu	37	9	26925851	26925851	+	Missense_Mutation	SNP	C	C	T	rs138585651	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr9:26925851C>T	ENST00000397292.3	-	6	1258	c.841G>A	c.(841-843)Gac>Aac	p.D281N	PLAA_ENST00000520884.1_Missense_Mutation_p.D281N	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	281					inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TCACCATTGTCGAGCACACAG	0.433													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18425	0.0		0.0	False		,,,				2504	0.0				Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(841-843)Gac>Aac		phospholipase A2-activating protein		C	ASN/ASP	10,4396	15.5+/-35.6	0,10,2193	180.0	146.0	158.0		841	4.3	1.0	9	dbSNP_134	158	0,8600		0,0,4300	yes	missense	PLAA	NM_001031689.2	23	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	benign	281/796	26925851	10,12996	2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26925851C>T	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.841G>A	9.37:g.26925851C>T	ENSP00000380460:p.Asp281Asn					PLAA_ENST00000520884.1_Missense_Mutation_p.D281N	p.D281N	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	6	1258	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	281					Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.841G>A	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061001	0.36373	0.00227	0.0	ENSG00000137055	ENST00000397292;ENST00000520884	T;T	0.17854	2.25;2.25	4.31	4.31	0.51392	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.308196	0.34725	N	0.003725	T	0.12220	0.0297	N	0.16166	0.38	0.37254	D	0.9067	B;B	0.14438	0.0;0.01	B;B	0.04013	0.0;0.001	T	0.10590	-1.0623	10	0.45353	T	0.12	-1.6067	17.1482	0.86771	0.0:1.0:0.0:0.0	.	281;281	E5RIM3;Q9Y263	.;PLAP_HUMAN	N	281	ENSP00000380460:D281N;ENSP00000429372:D281N	ENSP00000380460:D281N	D	-	1	0	PLAA	26915851	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	3.884000	0.56175	2.117000	0.64856	0.585000	0.79938	GAC		0.433	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		19	77	0	0	0	1	0	19	77				
GPATCH1	55094	broad.mit.edu	37	19	33608948	33608948	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:33608948G>A	ENST00000170564.2	+	16	2727		c.e16+1			NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1						mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GTGGCTCACGGTATGTCAGTA	0.478																																					Pancreas(67;88 1713 4567 18227)	ENST00000170564.2																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.e16+1		G patch domain containing 1							58.0	55.0	56.0					19																	33608948		2203	4300	6503	SO:0001630	splice_region_variant	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33608948G>A	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.2413+1G>A	19.37:g.33608948G>A								NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN			16	2727	+	Esophageal squamous(110;0.137)							Q8IZV6|Q8N3B7|Q9NW94	Splice_Site	SNP	ENST00000170564.2	37		CCDS12428.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699626	0.30142	.	.	ENSG00000076650	ENST00000170564	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.49483	D	0.999794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9757	0.71269	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPATCH1	38300788	0.989000	0.36119	0.355000	0.25773	0.007000	0.05969	3.808000	0.55598	2.356000	0.79943	0.563000	0.77884	.		0.478	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025	Intron	7	20	0	0	0	1	0	7	20				
ARSF	416	broad.mit.edu	37	X	3002368	3002368	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:3002368G>A	ENST00000381127.1	+	6	712	c.491G>A	c.(490-492)gGc>gAc	p.G164D	ARSF_ENST00000359361.2_Missense_Mutation_p.G164D|ARSF_ENST00000537104.1_Missense_Mutation_p.G164D	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	164					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TACTACTATGGCATGCCGTTC	0.517																																						ENST00000381127.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(490-492)gGc>gAc		arylsulfatase F							150.0	115.0	127.0					X																	3002368		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002368G>A	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.491G>A	X.37:g.3002368G>A	ENSP00000370519:p.Gly164Asp					ARSF_ENST00000359361.2_Missense_Mutation_p.G164D|ARSF_ENST00000537104.1_Missense_Mutation_p.G164D	p.G164D	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN			6	712	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	164					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.491G>A	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.719512	0.48728	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.95622	-3.76;-3.76;-3.76	3.44	3.44	0.39384	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.124093	0.53938	U	0.000046	D	0.98520	0.9506	H	0.97940	4.11	0.58432	D	0.999999	D	0.76494	0.999	D	0.79108	0.992	D	0.99425	1.0934	10	0.72032	D	0.01	.	14.2993	0.66336	0.0:0.0:1.0:0.0	.	164	P54793	ARSF_HUMAN	D	164	ENSP00000370519:G164D;ENSP00000445594:G164D;ENSP00000352319:G164D	ENSP00000352319:G164D	G	+	2	0	ARSF	3012368	1.000000	0.71417	0.012000	0.15200	0.130000	0.20726	6.172000	0.71932	1.331000	0.45412	0.540000	0.68198	GGC		0.517	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			4	35	0	0	0	1	0	4	35				
EIF2B1	1967	broad.mit.edu	37	12	124106408	124106408	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:124106408C>T	ENST00000424014.2	-	9	1021	c.813G>A	c.(811-813)ccG>ccA	p.P271P	EIF2B1_ENST00000539951.1_3'UTR	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	271					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		AGTCGACCCACGGATGCTCCT	0.512																																						ENST00000424014.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(811-813)ccG>ccA		eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa							163.0	101.0	122.0					12																	124106408		2203	4300	6503	SO:0001819	synonymous_variant	1967				cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	g.chr12:124106408C>T	X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"""eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"""	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.813G>A	12.37:g.124106408C>T						EIF2B1_ENST00000539951.1_3'UTR	p.P271P	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)	9	1021	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		271					A6NLY9|B4DGX0|Q3SXP4	Silent	SNP	ENST00000424014.2	37	c.813G>A	CCDS31924.1																																																																																				0.512	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414		4	22	0	0	0	1	0	4	22				
DCSTAMP	81501	broad.mit.edu	37	8	105367308	105367308	+	Silent	SNP	C	C	T	rs201469150		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:105367308C>T	ENST00000297581.2	+	3	1282	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	411					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.S411R(1)									TCTACCCCAGCGTGGAGAGGA	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		19862	0.0		0.001	False		,,,				2504	0.0					ENST00000297581.2																			1	Substitution - Missense(1)	p.S411R(1)	lung(1)								c.(1231-1233)agC>agT		dendrocyte expressed seven transmembrane protein							130.0	129.0	130.0					8																	105367308		2203	4300	6503	SO:0001819	synonymous_variant	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105367308C>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1233C>T	8.37:g.105367308C>T						DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR	p.S411S	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN			3	1282	+			411					B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	ENST00000297581.2	37	c.1233C>T	CCDS6301.1																																																																																				0.438	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		27	44	0	0	0	1	0	27	44				
NSFL1C	55968	broad.mit.edu	37	20	1445045	1445045	+	Silent	SNP	G	G	A	rs191322139	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr20:1445045G>A	ENST00000216879.4	-	2	999	c.132C>T	c.(130-132)gaC>gaT	p.D44D	NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000353088.2_Silent_p.D44D|NSFL1C_ENST00000350991.4_Silent_p.D44D|NSFL1C_ENST00000476071.1_Silent_p.D44D	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	44						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CATCCCCTCCGTCCTCATAAA	0.522													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21490	0.001		0.0	False		,,,				2504	0.0					ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(130-132)gaC>gaT		NSFL1 (p97) cofactor (p47)							157.0	142.0	147.0					20																	1445045		2203	4300	6503	SO:0001819	synonymous_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1445045G>A	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.132C>T	20.37:g.1445045G>A						RP4-776F14.3_ENST00000553571.1_RNA|NSFL1C_ENST00000353088.2_Silent_p.D44D|NSFL1C_ENST00000476071.1_Silent_p.D44D|NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000350991.4_Silent_p.D44D	p.D44D	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN			2	999	-			44					A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Silent	SNP	ENST00000216879.4	37	c.132C>T	CCDS13015.1																																																																																				0.522	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		28	73	0	0	0	1	0	28	73				
ZNF772	400720	broad.mit.edu	37	19	57985397	57985397	+	Missense_Mutation	SNP	C	C	T	rs184861513		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:57985397C>T	ENST00000343280.4	-	5	975	c.715G>A	c.(715-717)Gag>Aag	p.E239K	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.E198K|ZNF772_ENST00000427512.2_Missense_Mutation_p.E127K|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000425074.3_3'UTR	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		GCATGGTGCTCGAAAATGCTT	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		20599	0.001		0.0	False		,,,				2504	0.0				Melanoma(5;289 436 14293 15924 30817)	ENST00000343280.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.(715-717)Gag>Aag		zinc finger protein 772							75.0	67.0	70.0					19																	57985397		2203	4300	6503	SO:0001583	missense	400720				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57985397C>T	BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.715G>A	19.37:g.57985397C>T	ENSP00000341165:p.Glu239Lys					ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.E127K|ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.E198K	p.E239K	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)	5	975	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	239					A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	ENST00000343280.4	37	c.715G>A	CCDS33133.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	32	5.121854	0.94429	.	.	ENSG00000197128	ENST00000343280;ENST00000427512;ENST00000319969;ENST00000356584;ENST00000291809	T;T;T	0.14516	3.42;2.5;3.43	4.15	1.92	0.25849	.	.	.	.	.	T	0.05686	0.0149	N	0.10945	0.07	0.09310	N	0.999997	B;B;B	0.28258	0.001;0.056;0.205	B;B;B	0.19391	0.001;0.025;0.016	T	0.40683	-0.9550	9	0.12103	T	0.63	.	6.8937	0.24245	0.0:0.3675:0.4435:0.189	.	127;198;239	Q68DY9-2;A6NJK9;Q68DY9	.;.;ZN772_HUMAN	K	239;127;185;198;164	ENSP00000341165:E239K;ENSP00000395967:E127K;ENSP00000348992:E198K	ENSP00000291809:E164K	E	-	1	0	ZNF772	62677209	0.000000	0.05858	0.662000	0.29724	0.844000	0.47949	-0.613000	0.05610	0.991000	0.38814	-0.322000	0.08575	GAG		0.498	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596		4	47	0	0	0	1	0	4	47				
PPP1R16A	84988	broad.mit.edu	37	8	145722826	145722826	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:145722826C>T	ENST00000292539.4	+	2	1166	c.249C>T	c.(247-249)gaC>gaT	p.D83D	CTD-2517M22.14_ENST00000532766.1_RNA|PPP1R16A_ENST00000435887.1_Silent_p.D83D|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	83						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCCGAAATGACCTGGAAGAAG	0.662																																						ENST00000292539.4																			0				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8						c.(247-249)gaC>gaT		protein phosphatase 1, regulatory subunit 16A							46.0	44.0	45.0					8																	145722826		2202	4300	6502	SO:0001819	synonymous_variant	84988					plasma membrane	protein binding	g.chr8:145722826C>T		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.249C>T	8.37:g.145722826C>T						CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Silent_p.D83D|CTD-2517M22.14_ENST00000532766.1_RNA	p.D83D			Q96I34	PP16A_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		2	1166	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		83					D3DWM5	Silent	SNP	ENST00000292539.4	37	c.249C>T	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	c	6.378	0.437898	0.12104	.	.	ENSG00000255182	ENST00000532766	.	.	.	4.81	2.0	0.26442	.	.	.	.	.	T	0.61060	0.2317	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62590	-0.6822	5	0.87932	D	0	.	6.4184	0.21730	0.0:0.6326:0.0:0.3674	.	.	.	.	D	149	.	ENSP00000435686:G149D	G	-	2	0	CTD-2517M22.14	145693634	0.129000	0.22400	0.998000	0.56505	0.141000	0.21300	0.131000	0.15870	1.050000	0.40346	-0.355000	0.07637	GGT		0.662	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		5	22	0	0	0	1	0	5	22				
SOGA3	387104	broad.mit.edu	37	6	127796901	127796901	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr6:127796901G>A	ENST00000525778.1	-	6	3015	c.2270C>T	c.(2269-2271)gCg>gTg	p.A757V	SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000368268.2_Missense_Mutation_p.A757V|SOGA3_ENST00000481848.2_Missense_Mutation_p.A757V|SOGA3_ENST00000556132.1_Missense_Mutation_p.A757V|SOGA3_ENST00000465909.2_Missense_Mutation_p.A757V			Q5TF21	SOGA3_HUMAN	SOGA family member 3	757					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CTTCTTGCCCGCGTCGCTCTC	0.697																																						ENST00000556132.1																			0											c.(2269-2271)gCg>gTg		SOGA family member 3							39.0	46.0	44.0					6																	127796901		2130	4229	6359	SO:0001583	missense	387104					integral to membrane		g.chr6:127796901G>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2270C>T	6.37:g.127796901G>A	ENSP00000434570:p.Ala757Val					SOGA3_ENST00000525778.1_Missense_Mutation_p.A757V|SOGA3_ENST00000481848.2_Missense_Mutation_p.A757V|SOGA3_ENST00000465909.2_Missense_Mutation_p.A757V|SOGA3_ENST00000368268.2_Missense_Mutation_p.A757V	p.A757V	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	3134	-			757						Missense_Mutation	SNP	ENST00000525778.1	37	c.2270C>T	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406340	0.62288	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.27	5.27	0.74061	.	0.285709	0.38005	N	0.001858	T	0.23249	0.0562	L	0.49126	1.545	0.48975	D	0.999737	P	0.48089	0.905	B	0.41440	0.357	T	0.06463	-1.0825	10	0.62326	D	0.03	-8.9632	18.91	0.92479	0.0:0.0:1.0:0.0	.	757	Q5TF21	CF174_HUMAN	V	757	ENSP00000451768:A757V;ENSP00000357251:A757V;ENSP00000434570:A757V;ENSP00000435559:A757V	ENSP00000435559:A757V	A	-	2	0	C6orf174	127838594	0.998000	0.40836	0.999000	0.59377	0.862000	0.49288	2.412000	0.44609	2.476000	0.83614	0.462000	0.41574	GCG		0.697	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		7	40	0	0	0	1	0	7	40				
CMTM1	113540	broad.mit.edu	37	16	66600560	66600560	+	Intron	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:66600560C>T	ENST00000457188.2	+	1	202				CMTM1_ENST00000379500.2_Silent_p.T48T|CMTM1_ENST00000328020.6_Silent_p.T48T|CMTM1_ENST00000529506.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000533953.1_Silent_p.T48T|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000528324.1_Intron	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1						chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CAGCGAAGACCGCACCCCGGA	0.632																																						ENST00000379500.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(142-144)acC>acT		CKLF-like MARVEL transmembrane domain containing 1							69.0	77.0	74.0					16																	66600560		2201	4300	6501	SO:0001627	intron_variant	113540				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66600560C>T	AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"""chemokine-like factor super family 1"", ""chemokine-like factor superfamily 1"""	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.81+63C>T	16.37:g.66600560C>T						CMTM1_ENST00000533953.1_Silent_p.T48T|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000528324.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000457188.2_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000328020.6_Silent_p.T48T|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000535705.1_Intron	p.T48T	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)	1	211	+		Ovarian(137;0.0563)	0			MARVEL.		Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Silent	SNP	ENST00000457188.2	37	c.144C>T	CCDS45503.1																																																																																				0.632	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999		5	55	0	0	0	1	0	5	55				
CACNA1G	8913	broad.mit.edu	37	17	48703836	48703836	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:48703836C>T	ENST00000359106.5	+	38	6858	c.6858C>T	c.(6856-6858)gaC>gaT	p.D2286D	CACNA1G_ENST00000360761.4_Silent_p.D2170D|CACNA1G_ENST00000515765.1_Silent_p.D2230D|CACNA1G_ENST00000510115.1_Silent_p.D2207D|CACNA1G_ENST00000505165.1_Silent_p.D2114D|CACNA1G_ENST00000507510.2_Silent_p.D2241D|CACNA1G_ENST00000515165.1_Silent_p.D2193D|CACNA1G_ENST00000507896.1_Silent_p.D2103D|CACNA1G_ENST00000503485.1_Silent_p.D2159D|CACNA1G_ENST00000429973.2_Silent_p.D2175D|CACNA1G_ENST00000358244.5_Silent_p.D2080D|CACNA1G_ENST00000513964.1_Silent_p.D2148D|CACNA1G_ENST00000510366.1_Silent_p.D2141D|CACNA1G_ENST00000502264.1_Silent_p.D2215D|CACNA1G_ENST00000514717.1_Silent_p.D2136D|CACNA1G_ENST00000507609.1_Silent_p.D2186D|CACNA1G_ENST00000513689.2_Silent_p.D2196D|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000442258.2_Silent_p.D2152D|CACNA1G_ENST00000507336.1_Silent_p.D2275D|CACNA1G_ENST00000354983.4_Silent_p.D2252D|CACNA1G_ENST00000514079.1_Silent_p.D2200D|CACNA1G_ENST00000514181.1_Silent_p.D2168D|CACNA1G_ENST00000512389.1_Silent_p.D2182D|CACNA1G_ENST00000515411.1_Silent_p.D2223D|CACNA1G_ENST00000352832.5_Silent_p.D2159D	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2286					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGGCACAGACCCCTCTAACC	0.657											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(6475-6477)gaC>gaT		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						10.0	14.0	13.0					17																	48703836		1888	4079	5967	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48703836C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6858C>T	17.37:g.48703836C>T			OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	956	CACNA1G_ENST00000359106.5_Silent_p.D2286D|CACNA1G_ENST00000354983.4_Silent_p.D2252D|CACNA1G_ENST00000505165.1_Silent_p.D2114D|CACNA1G_ENST00000360761.4_Silent_p.D2170D|CACNA1G_ENST00000515411.1_Silent_p.D2223D|CACNA1G_ENST00000515165.1_Silent_p.D2193D|CACNA1G_ENST00000514181.1_Silent_p.D2168D|CACNA1G_ENST00000502264.1_Silent_p.D2215D|CACNA1G_ENST00000514717.1_Silent_p.D2136D|CACNA1G_ENST00000514079.1_Silent_p.D2200D|CACNA1G_ENST00000358244.5_Silent_p.D2080D|CACNA1G_ENST00000507336.1_Silent_p.D2275D|CACNA1G_ENST00000503485.1_Silent_p.D2159D|CACNA1G_ENST00000513964.1_Silent_p.D2148D|CACNA1G_ENST00000513689.2_Silent_p.D2196D|CACNA1G_ENST00000510366.1_Silent_p.D2141D|CACNA1G_ENST00000512389.1_Silent_p.D2182D|CACNA1G_ENST00000510115.1_Silent_p.D2207D|CACNA1G_ENST00000442258.2_Silent_p.D2152D|CACNA1G_ENST00000515765.1_Silent_p.D2230D|CACNA1G_ENST00000507896.1_Silent_p.D2103D|CACNA1G_ENST00000429973.2_Silent_p.D2175D|CACNA1G_ENST00000507510.2_Silent_p.D2241D|CACNA1G_ENST00000507609.1_Silent_p.D2186D	p.D2159D	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		34	6849	+	Breast(11;6.7e-17)		2286					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.6477C>T	CCDS45730.1																																																																																				0.657	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		4	9	0	0	0	1	0	4	9				
CDH5	1003	broad.mit.edu	37	16	66413286	66413286	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:66413286G>A	ENST00000341529.3	+	2	194	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	CDH5_ENST00000563425.2_Missense_Mutation_p.G16S	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	16					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	CGCCTGCCTGGGCCTGCTGGC	0.627																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(46-48)Ggc>Agc		cadherin 5, type 2 (vascular endothelium)							64.0	70.0	68.0					16																	66413286		2202	4300	6502	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66413286G>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.46G>A	16.37:g.66413286G>A	ENSP00000344115:p.Gly16Ser					CDH5_ENST00000563425.2_Missense_Mutation_p.G16S	p.G16S	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	2	194	+		Ovarian(137;0.0955)	16					Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.46G>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492816	0.84962	.	.	ENSG00000179776	ENST00000341529;ENST00000379531	T	0.55234	0.53	4.28	-1.71	0.08133	.	.	.	.	.	T	0.36496	0.0969	N	0.08118	0	0.21325	N	0.999722	D	0.61080	0.989	P	0.55615	0.78	T	0.22417	-1.0217	9	0.30854	T	0.27	.	3.372	0.07224	0.4633:0.0:0.3488:0.1879	.	16	P33151	CADH5_HUMAN	S	16	ENSP00000344115:G16S	ENSP00000344115:G16S	G	+	1	0	CDH5	64970787	0.106000	0.21978	0.615000	0.29064	0.807000	0.45602	0.651000	0.24873	-0.133000	0.11537	0.462000	0.41574	GGC		0.627	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		23	59	0	0	0	1	0	23	59				
IGLC2	3538	broad.mit.edu	37	22	23243367	23243367	+	RNA	SNP	T	T	C	rs8033		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr22:23243367T>C	ENST00000390323.2	+	0	212				IGLJ2_ENST00000390322.2_RNA			P0CG05	LAC2_HUMAN	immunoglobulin lambda constant 2 (Kern-Oz- marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CCAGCAGCTATCTGAGCCTGA	0.587																																						ENST00000390323.2																			0																				76.0	81.0	79.0					22																	23243367		2072	4132	6204			0							g.chr22:23243367T>C	J00253		22q11.2	2012-02-08			ENSG00000211677	ENSG00000211677		"""Immunoglobulins / IGL locus"""	5856	other	immunoglobulin gene				IGLC			Standard	NG_000002		Approved			P0CG05	OTTHUMG00000151214		22.37:g.23243367T>C														0	212	+								A0M8Q4|P80423	RNA	SNP	ENST00000390323.2	37																																																																																						0.587	IGLC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000321818.3	NG_000002		5	43	0	0	0	1	0	5	43				
TIMELESS	8914	broad.mit.edu	37	12	56815747	56815747	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:56815747G>A	ENST00000553532.1	-	21	2728	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C	TIMELESS_ENST00000229201.4_Missense_Mutation_p.R859C|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R357C					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						ATCTGCTTGCGTGTTCGAGGA	0.542																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(2575-2577)Cgc>Tgc		timeless circadian clock							141.0	125.0	130.0					12																	56815747		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56815747G>A	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2578C>T	12.37:g.56815747G>A	ENSP00000450607:p.Arg860Cys					TIMELESS_ENST00000554616.1_Missense_Mutation_p.R357C|TIMELESS_ENST00000553532.1_Missense_Mutation_p.R860C	p.R859C	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			21	2729	-			860						Missense_Mutation	SNP	ENST00000553532.1	37	c.2575C>T	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997439	0.74818	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.18960	2.18;2.18;2.18	5.19	4.28	0.50868	Timeless C-terminal (1);	0.290510	0.38720	N	0.001597	T	0.47507	0.1449	M	0.78456	2.415	0.41058	D	0.985353	D	0.89917	1.0	D	0.97110	1.0	T	0.54483	-0.8287	10	0.87932	D	0	-5.3212	14.1666	0.65480	0.0:0.0:0.8483:0.1516	.	860	Q9UNS1	TIM_HUMAN	C	859;860;357	ENSP00000229201:R859C;ENSP00000450607:R860C;ENSP00000450848:R357C	ENSP00000229201:R860C	R	-	1	0	TIMELESS	55102014	1.000000	0.71417	0.959000	0.39883	0.610000	0.37248	7.980000	0.88113	1.293000	0.44690	0.555000	0.69702	CGC		0.542	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		6	85	0	0	0	1	0	6	85				
LAMB1	3912	broad.mit.edu	37	7	107592541	107592541	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:107592541C>T	ENST00000222399.6	-	23	3437	c.3207G>A	c.(3205-3207)gcG>gcA	p.A1069A	LAMB1_ENST00000393561.1_Silent_p.A1093A	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1069	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AGGTATTGGGCGCACAGCGGT	0.572																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(3277-3279)gcG>gcA		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						67.0	50.0	56.0					7																	107592541		2203	4300	6503	SO:0001819	synonymous_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107592541C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3207G>A	7.37:g.107592541C>T						LAMB1_ENST00000222399.6_Silent_p.A1069A	p.A1093A			P07942	LAMB1_HUMAN			21	3463	-			1069			Laminin EGF-like 12.		Q14D91	Silent	SNP	ENST00000222399.6	37	c.3279G>A	CCDS5750.1																																																																																				0.572	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		3	11	0	0	0	1	0	3	11				
BMS1	9790	broad.mit.edu	37	10	43285947	43285947	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:43285947G>A	ENST00000374518.5	+	5	687	c.624G>A	c.(622-624)acG>acA	p.T208T		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	208	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTTCTGGACGGAAGTTTACC	0.413																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(622-624)acG>acA		BMS1 ribosome biogenesis factor							73.0	73.0	73.0					10																	43285947		2203	4299	6502	SO:0001819	synonymous_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43285947G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.624G>A	10.37:g.43285947G>A							p.T208T	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			5	687	+			208					Q5QPT5|Q86XJ9	Silent	SNP	ENST00000374518.5	37	c.624G>A	CCDS7199.1																																																																																				0.413	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		24	50	0	0	0	1	0	24	50				
RNF215	200312	broad.mit.edu	37	22	30776081	30776081	+	Silent	SNP	C	C	T	rs567963097		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr22:30776081C>T	ENST00000382363.3	-	7	1052	c.978G>A	c.(976-978)gcG>gcA	p.A326A	RP1-130H16.16_ENST00000332468.4_RNA	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	326						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CCAGGCACACCGCACAGGTCT	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		16328	0.0		0.0	False		,,,				2504	0.001					ENST00000382363.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(976-978)gcG>gcA		ring finger protein 215							79.0	86.0	84.0					22																	30776081		2203	4300	6503	SO:0001819	synonymous_variant	200312					integral to membrane	zinc ion binding	g.chr22:30776081C>T		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"""RING-type (C3HC4) zinc fingers"""	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.978G>A	22.37:g.30776081C>T							p.A326A	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN			7	1052	-			326					A6NEL1	Silent	SNP	ENST00000382363.3	37	c.978G>A	CCDS33633.1	.	.	.	.	.	.	.	.	.	.	C	0.035	-1.309092	0.01342	.	.	ENSG00000099999	ENST00000215798	.	.	.	3.86	-7.73	0.01245	.	.	.	.	.	T	0.46521	0.1397	.	.	.	0.50313	D	0.999861	.	.	.	.	.	.	T	0.57602	-0.7783	4	.	.	.	-3.9113	6.4576	0.21938	0.2231:0.0885:0.5144:0.174	.	.	.	.	S	264	.	.	G	-	1	0	RNF215	29106081	0.000000	0.05858	0.066000	0.19879	0.026000	0.11368	-3.877000	0.00344	-3.990000	0.00084	-2.061000	0.00397	GGT		0.647	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	NM_001017981		5	72	0	0	0	1	0	5	72				
FBXL22	283807	broad.mit.edu	37	15	63889730	63889730	+	Missense_Mutation	SNP	G	G	A	rs546862368		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:63889730G>A	ENST00000360587.2	+	1	179	c.139G>A	c.(139-141)Gca>Aca	p.A47T	USP3-AS1_ENST00000558831.1_RNA|FBXL22_ENST00000534939.1_Missense_Mutation_p.A47T|USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000560622.1_RNA|FBXL22_ENST00000539570.3_Missense_Mutation_p.A41T|USP3-AS1_ENST00000561191.1_RNA|USP3-AS1_ENST00000559737.1_RNA	NM_203373.2	NP_976307.2	Q6P050	FXL22_HUMAN	F-box and leucine-rich repeat protein 22	47	F-box.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(4)	4						TGAGGACCCCGCACTCTGGTC	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19501	0.0		0.0	False		,,,				2504	0.0					ENST00000360587.2																			0				lung(4)	4						c.(139-141)Gca>Aca		F-box and leucine-rich repeat protein 22							66.0	57.0	60.0					15																	63889730		2203	4300	6503	SO:0001583	missense	283807							g.chr15:63889730G>A	BC065833	CCDS10187.1, CCDS10187.2	15q22.1	2012-04-05			ENSG00000197361	ENSG00000197361		"""F-boxes / Leucine-rich repeats"""	27537	protein-coding gene	gene with protein product		609088				12477932	Standard	NM_203373		Approved	Fbl22, FLJ39626	uc002amn.4	Q6P050	OTTHUMG00000132905	ENST00000360587.2:c.139G>A	15.37:g.63889730G>A	ENSP00000353794:p.Ala47Thr					USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000561191.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000560622.1_RNA|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000558831.1_RNA|FBXL22_ENST00000539570.3_Missense_Mutation_p.A41T|FBXL22_ENST00000534939.1_Missense_Mutation_p.A47T	p.A47T	NM_203373.2	NP_976307.2	Q6P050	FXL22_HUMAN			1	179	+			41						Missense_Mutation	SNP	ENST00000360587.2	37	c.139G>A	CCDS10187.2	.	.	.	.	.	.	.	.	.	.	G	4.382	0.070510	0.08436	.	.	ENSG00000197361	ENST00000360587;ENST00000539570	T;T	0.34072	1.38;1.38	5.39	-3.62	0.04543	F-box domain, Skp2-like (1);	1.328010	0.04707	N	0.416865	T	0.12475	0.0303	N	0.02539	-0.55	0.09310	N	1	B	0.25169	0.119	B	0.15484	0.013	T	0.13442	-1.0509	10	0.34782	T	0.22	-10.1051	3.3137	0.07026	0.3695:0.0799:0.4133:0.1373	.	41	Q6P050	FXL22_HUMAN	T	47;41	ENSP00000353794:A47T;ENSP00000442112:A41T	ENSP00000353794:A47T	A	+	1	0	FBXL22	61676783	0.000000	0.05858	0.000000	0.03702	0.294000	0.27393	-0.411000	0.07142	-0.241000	0.09681	-1.008000	0.02478	GCA		0.622	FBXL22-001	KNOWN	downstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256412.4	NM_203373		6	19	0	0	0	1	0	6	19				
CNPY2	10330	broad.mit.edu	37	12	56705008	56705008	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:56705008G>T	ENST00000273308.4	-	4	935	c.395C>A	c.(394-396)aCc>aAc	p.T132N	RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.12_ENST00000546789.1_RNA|CNPY2_ENST00000551720.1_5'Flank|RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.T132N	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	132	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						AAACTTGAGGGTGCCGCTAAT	0.493																																						ENST00000273308.4																			0				large_intestine(2)|lung(2)	4						c.(394-396)aCc>aAc		canopy FGF signaling regulator 2							217.0	207.0	211.0					12																	56705008		2203	4300	6503	SO:0001583	missense	10330					endoplasmic reticulum|integral to plasma membrane	protein binding	g.chr12:56705008G>T	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.395C>A	12.37:g.56705008G>T	ENSP00000273308:p.Thr132Asn					RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.T132N|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.11_ENST00000549860.1_RNA	p.T132N	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN			4	935	-			132			Saposin B-type.		B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	c.395C>A	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359380	0.41801	.	.	ENSG00000144785;ENSG00000257727;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000273308;ENST00000551475;ENST00000551286	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.29	4.34	0.51931	Saposin B (1);	0.099888	0.64402	D	0.000003	T	0.14313	0.0346	N	0.03608	-0.345	0.43099	D	0.994789	B	0.06786	0.001	B	0.04013	0.001	T	0.14254	-1.0479	10	0.20519	T	0.43	-14.9753	7.2035	0.25895	0.0965:0.2619:0.6416:0.0	.	132	Q9Y2B0	CNPY2_HUMAN	N	132;132;132;80	ENSP00000446743:T132N;ENSP00000273308:T132N;ENSP00000448809:T132N;ENSP00000446784:T80N	ENSP00000273308:T132N	T	-	2	0	RP11-977G19.10;CNPY2	54991275	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.001000	0.49488	2.648000	0.89879	0.561000	0.74099	ACC		0.493	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		51	90	1	0	1.00221e-16	1	1.08462e-16	51	90				
POLG2	11232	broad.mit.edu	37	17	62492847	62492847	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:62492847A>G	ENST00000539111.2	-	1	307	c.240T>C	c.(238-240)agT>agC	p.S80S		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	80					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			GCTTGCTTCCACTTAGGAAAT	0.612																																					Colon(3;18 21 435 17652 48887)	ENST00000539111.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(238-240)agT>agC		polymerase (DNA directed), gamma 2, accessory subunit							92.0	93.0	93.0					17																	62492847		2203	4300	6503	SO:0001819	synonymous_variant	11232				DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	g.chr17:62492847A>G	U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"""DNA polymerases"""	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.240T>C	17.37:g.62492847A>G							p.S80S	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;4.97e-11)		1	307	-	Breast(5;2.15e-14)		80					O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Silent	SNP	ENST00000539111.2	37	c.240T>C	CCDS32706.1																																																																																				0.612	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		22	62	0	0	0	1	0	22	62				
RPUSD1	113000	broad.mit.edu	37	16	836359	836359	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:836359C>A	ENST00000561734.1	-	5	773	c.530G>T	c.(529-531)cGc>cTc	p.R177L	MSLNL_ENST00000442466.1_5'Flank|RPUSD1_ENST00000567114.1_Missense_Mutation_p.R48L|RPUSD1_ENST00000565809.1_3'UTR|CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000262315.9_5'Flank|CHTF18_ENST00000455171.2_5'Flank|RPUSD1_ENST00000007264.2_Missense_Mutation_p.R177L			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	177					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GCAGTGCACGCGCAGCTGGTG	0.687																																						ENST00000561734.1																			0				endometrium(3)|lung(2)|skin(2)	7						c.(529-531)cGc>cTc		RNA pseudouridylate synthase domain containing 1							35.0	39.0	37.0					16																	836359		2199	4297	6496	SO:0001583	missense	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:836359C>A	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"""RNA pseudouridylate synthase domain containing"""	14173	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 40"""	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.530G>T	16.37:g.836359C>A	ENSP00000455026:p.Arg177Leu					RPUSD1_ENST00000007264.2_Missense_Mutation_p.R177L|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000567114.1_Missense_Mutation_p.R48L	p.R177L			Q9UJJ7	RUSD1_HUMAN			5	773	-		Hepatocellular(780;0.00335)	177					D3DU66	Missense_Mutation	SNP	ENST00000561734.1	37	c.530G>T	CCDS10426.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995733	0.74703	.	.	ENSG00000007376	ENST00000007264	T	0.56103	0.48	3.88	3.88	0.44766	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82926	0.5143	H	0.98738	4.315	0.53688	D	0.999974	D	0.89917	1.0	D	0.97110	1.0	D	0.90064	0.4158	10	0.87932	D	0	-26.7718	14.6252	0.68616	0.0:1.0:0.0:0.0	.	177	Q9UJJ7	RUSD1_HUMAN	L	177	ENSP00000007264:R177L	ENSP00000007264:R177L	R	-	2	0	RPUSD1	776360	1.000000	0.71417	0.807000	0.32361	0.535000	0.34838	5.828000	0.69307	2.028000	0.59812	0.456000	0.33151	CGC		0.687	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		6	55	1	0	0.0293803	1	0.0294525	6	55				
DNAH6	1768	broad.mit.edu	37	2	84800604	84800604	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:84800604C>T	ENST00000237449.6	+	11	1825	c.1817C>T	c.(1816-1818)gCc>gTc	p.A606V	DNAH6_ENST00000398278.2_Missense_Mutation_p.A606V|DNAH6_ENST00000389394.3_Missense_Mutation_p.A606V			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	606	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ACCATTCAGGCCGCATTTGAA	0.328																																						ENST00000389394.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(1816-1818)gCc>gTc		dynein, axonemal, heavy chain 6							82.0	85.0	84.0					2																	84800604		2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84800604C>T	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1817C>T	2.37:g.84800604C>T	ENSP00000237449:p.Ala606Val					DNAH6_ENST00000398278.2_Missense_Mutation_p.A606V|DNAH6_ENST00000237449.6_Missense_Mutation_p.A606V	p.A606V	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			12	1954	+			606			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.1817C>T	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	C	1.990	-0.432042	0.04669	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.25250	1.81;1.94;1.81	4.95	4.04	0.47022	.	0.461095	0.18150	N	0.150133	T	0.19967	0.0480	L	0.44542	1.39	0.25269	N	0.989534	B;B	0.30973	0.005;0.302	B;B	0.27500	0.004;0.08	T	0.13656	-1.0501	10	0.17369	T	0.5	.	11.28	0.49188	0.3315:0.6685:0.0:0.0	.	606;185	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	V	606	ENSP00000374045:A606V;ENSP00000381326:A606V;ENSP00000237449:A606V	ENSP00000237449:A606V	A	+	2	0	DNAH6	84654115	0.993000	0.37304	0.995000	0.50966	0.071000	0.16799	1.931000	0.40134	1.006000	0.39211	0.491000	0.48974	GCC		0.328	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		8	54	0	0	0	1	0	8	54				
PDCL3	79031	broad.mit.edu	37	2	101183001	101183001	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:101183001C>T	ENST00000264254.6	+	2	421	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	15					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TGACATCTTACGCAAAAAGGG	0.517																																						ENST00000264254.6																			0				endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						c.(43-45)Cgc>Tgc		phosducin-like 3							89.0	81.0	84.0					2																	101183001		2203	4300	6503	SO:0001583	missense	79031				apoptosis|interspecies interaction between organisms	cytoplasm	protein binding	g.chr2:101183001C>T	AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.43C>T	2.37:g.101183001C>T	ENSP00000264254:p.Arg15Cys						p.R15C	NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN			2	421	+			15					B2RA00|Q53S68	Missense_Mutation	SNP	ENST00000264254.6	37	c.43C>T	CCDS33261.1	.	.	.	.	.	.	.	.	.	.	.	21.2	4.113984	0.77210	.	.	ENSG00000115539	ENST00000264254	T	0.15718	2.4	4.61	4.61	0.57282	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	H	0.94183	3.505	0.80722	D	1	D	0.65815	0.995	P	0.53102	0.718	T	0.66976	-0.5787	10	0.87932	D	0	-2.0956	17.4392	0.87561	0.0:1.0:0.0:0.0	.	15	Q9H2J4	PDCL3_HUMAN	C	15	ENSP00000264254:R15C	ENSP00000264254:R15C	R	+	1	0	PDCL3	100549433	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.965000	0.56788	2.128000	0.65567	0.442000	0.29010	CGC		0.517	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1	NM_024065		8	58	0	0	0	1	0	8	58				
EPB41L5	57669	broad.mit.edu	37	2	120776691	120776691	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:120776691C>T	ENST00000263713.5	+	2	245	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C	EPB41L5_ENST00000443902.2_Missense_Mutation_p.R11C|EPB41L5_ENST00000452780.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.R11C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	11					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AACACTAGGGCGTCGGTCTAT	0.453																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(31-33)Cgt>Tgt		erythrocyte membrane protein band 4.1 like 5							199.0	195.0	196.0					2																	120776691		2203	4300	6503	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120776691C>T	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.31C>T	2.37:g.120776691C>T	ENSP00000263713:p.Arg11Cys					EPB41L5_ENST00000452780.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000443902.2_Missense_Mutation_p.R11C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.R11C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.R11C	p.R11C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN			2	245	+			11					Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.31C>T	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560637	0.65538	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	D;D;D;D;D	0.85861	-2.01;-2.04;-1.96;-1.96;-2.01	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000001	D	0.89114	0.6623	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.984;1.0	D	0.90415	0.4412	10	0.87932	D	0	.	18.9431	0.92611	0.0:1.0:0.0:0.0	.	11;11;11	Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;E41L5_HUMAN	C	11	ENSP00000263713:R11C;ENSP00000393856:R11C;ENSP00000329687:R11C;ENSP00000393722:R11C;ENSP00000390439:R11C	ENSP00000263713:R11C	R	+	1	0	EPB41L5	120493161	1.000000	0.71417	0.895000	0.35142	0.583000	0.36354	4.351000	0.59398	2.552000	0.86080	0.650000	0.86243	CGT		0.453	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		10	124	0	0	0	1	0	10	124				
RFC1	5981	broad.mit.edu	37	4	39301676	39301676	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:39301676G>A	ENST00000381897.1	-	21	2909	c.2776C>T	c.(2776-2778)Cgg>Tgg	p.R926W	RNU6-32P_ENST00000383948.1_RNA|RFC1_ENST00000349703.2_Missense_Mutation_p.R925W	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	926					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGCTTACTCCGGATCTGGCTG	0.493																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(2776-2778)Cgg>Tgg		replication factor C (activator 1) 1, 145kDa							92.0	87.0	89.0					4																	39301676		2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39301676G>A	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2776C>T	4.37:g.39301676G>A	ENSP00000371321:p.Arg926Trp					RFC1_ENST00000349703.2_Missense_Mutation_p.R925W	p.R926W	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			21	2909	-			926					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.2776C>T	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	G	35	5.444092	0.96187	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.51574	0.7;0.7	6.01	6.01	0.97437	DNA replication factor RFC1, C-terminal (1);DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78916	0.4359	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.83121	-0.0118	10	0.87932	D	0	-11.8897	20.5109	0.99210	0.0:0.0:1.0:0.0	.	926;925	P35251;P35251-2	RFC1_HUMAN;.	W	926;925	ENSP00000371321:R926W;ENSP00000261424:R925W	ENSP00000261424:R925W	R	-	1	2	RFC1	38978071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.969000	0.87988	2.851000	0.98039	0.609000	0.83330	CGG		0.493	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		5	41	0	0	0	1	0	5	41				
AP2A1	160	broad.mit.edu	37	19	50302915	50302915	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:50302915G>T	ENST00000359032.5	+	10	1164	c.1164G>T	c.(1162-1164)cgG>cgT	p.R388R	AP2A1_ENST00000354293.5_Silent_p.R388R	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	388					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGCGGCAGCGGGCGGCTGACC	0.652																																						ENST00000354293.5																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19						c.(1162-1164)cgG>cgT		adaptor-related protein complex 2, alpha 1 subunit							62.0	68.0	66.0					19																	50302915		2203	4300	6503	SO:0001819	synonymous_variant	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50302915G>T	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1164G>T	19.37:g.50302915G>T						AP2A1_ENST00000359032.5_Silent_p.R388R	p.R388R	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	10	1330	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	388					Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	ENST00000359032.5	37	c.1164G>T	CCDS46148.1																																																																																				0.652	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			5	56	1	0	0.014758	1	0.0148307	5	56				
VPS13D	55187	broad.mit.edu	37	1	12460321	12460321	+	Silent	SNP	C	C	T	rs376413956		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:12460321C>T	ENST00000358136.3	+	61	11848	c.11718C>T	c.(11716-11718)acC>acT	p.T3906T	VPS13D_ENST00000356315.4_Silent_p.T3881T|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCATCGAGACCGGCCCAGCTG	0.557																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(11716-11718)acC>acT		vacuolar protein sorting 13 homolog D (S. cerevisiae)		C	,	0,4406		0,0,2203	119.0	97.0	105.0		11718,11643	-12.1	0.0	1		105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VPS13D	NM_015378.2,NM_018156.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	3906/4389,3881/4364	12460321	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12460321C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.11718C>T	1.37:g.12460321C>T						VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.T3881T	p.T3906T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	61	11848	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3905						Silent	SNP	ENST00000358136.3	37	c.11718C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	0.729	-0.780481	0.02929	0.0	1.16E-4	ENSG00000048707	ENST00000011700	.	.	.	6.03	-12.1	0.00011	.	.	.	.	.	T	0.39572	0.1083	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59757	-0.7394	4	.	.	.	.	4.3964	0.11365	0.0793:0.4333:0.1798:0.3076	.	.	.	.	L	2728	.	.	P	+	2	0	VPS13D	12382908	0.000000	0.05858	0.013000	0.15412	0.222000	0.24845	-3.081000	0.00613	-4.916000	0.00027	-1.202000	0.01658	CCG		0.557	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		10	31	0	0	0	1	0	10	31				
COL6A6	131873	broad.mit.edu	37	3	130286065	130286065	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:130286065A>T	ENST00000358511.6	+	4	1833	c.1802A>T	c.(1801-1803)gAc>gTc	p.D601V	COL6A6_ENST00000453409.2_Missense_Mutation_p.D601V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	601	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCATTGAAAGACATAAGAAAC	0.418																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1801-1803)gAc>gTc		collagen, type VI, alpha 6							48.0	48.0	48.0					3																	130286065		1931	4117	6048	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130286065A>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1802A>T	3.37:g.130286065A>T	ENSP00000351310:p.Asp601Val					COL6A6_ENST00000453409.2_Missense_Mutation_p.D601V	p.D601V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			4	1833	+			601			Nonhelical region.|VWFA 3.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.1802A>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.318571	0.40996	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.84146	-1.81;-1.81	5.51	4.35	0.52113	von Willebrand factor, type A (3);	0.287666	0.29948	N	0.010791	T	0.76737	0.4029	L	0.45581	1.43	0.44927	D	0.997942	B	0.19445	0.036	B	0.18871	0.023	T	0.69595	-0.5103	10	0.41790	T	0.15	.	3.1052	0.06339	0.6388:0.1451:0.0765:0.1396	.	601	A6NMZ7	CO6A6_HUMAN	V	601	ENSP00000351310:D601V;ENSP00000399236:D601V	ENSP00000351310:D601V	D	+	2	0	COL6A6	131768755	0.841000	0.29509	1.000000	0.80357	0.953000	0.61014	1.284000	0.33249	0.939000	0.37446	0.459000	0.35465	GAC		0.418	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		12	36	0	0	0	1	0	12	36				
CTCFL	140690	broad.mit.edu	37	20	56099037	56099037	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr20:56099037G>A	ENST00000608263.1	-	1	886	c.225C>T	c.(223-225)agC>agT	p.S75S	CTCFL_ENST00000423479.3_Silent_p.S75S|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000608425.1_Silent_p.S75S|CTCFL_ENST00000608440.1_Silent_p.S75S|CTCFL_ENST00000429804.3_Silent_p.S75S|CTCFL_ENST00000432255.2_Silent_p.S75S|CTCFL_ENST00000608158.1_Silent_p.S75S|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000371196.2_Silent_p.S75S|CTCFL_ENST00000243914.3_Silent_p.S75S|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000609232.1_Silent_p.S75S|CTCFL_ENST00000422869.2_Silent_p.S75S|CTCFL_ENST00000481655.2_Silent_p.S75S	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	75					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TGTACTTCTCGCTCTCCTCCG	0.597																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(223-225)agC>agT		CCCTC-binding factor (zinc finger protein)-like							92.0	89.0	90.0					20																	56099037		2203	4299	6502	SO:0001819	synonymous_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099037G>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.225C>T	20.37:g.56099037G>A						CTCFL_ENST00000422869.2_Silent_p.S75S|CTCFL_ENST00000423479.2_Silent_p.S75S|CTCFL_ENST00000422109.2_Silent_p.S75S|CTCFL_ENST00000371196.2_Silent_p.S75S|CTCFL_ENST00000433949.2_Silent_p.S75S|CTCFL_ENST00000243914.3_Silent_p.S75S|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000432255.2_Silent_p.S75S|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000429804.2_Silent_p.S75S	p.S75S			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	886	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		75					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	37	c.225C>T	CCDS13459.1																																																																																				0.597	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		52	88	0	0	0	1	0	52	88				
CCDC8	83987	broad.mit.edu	37	19	46914607	46914607	+	Silent	SNP	C	C	T	rs34235823		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:46914607C>T	ENST00000307522.3	-	1	2234	c.1461G>A	c.(1459-1461)tcG>tcA	p.S487S		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	487					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TGCAAAACCACGAAAAGCGTC	0.627																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1459-1461)tcG>tcA		coiled-coil domain containing 8							58.0	61.0	60.0					19																	46914607		2203	4300	6503	SO:0001819	synonymous_variant	83987					plasma membrane		g.chr19:46914607C>T	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1461G>A	19.37:g.46914607C>T							p.S487S	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	2234	-			487					Q8TB26	Silent	SNP	ENST00000307522.3	37	c.1461G>A	CCDS12685.1																																																																																				0.627	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		4	52	0	0	0	1	0	4	52				
FOXP4	116113	broad.mit.edu	37	6	41555240	41555240	+	Missense_Mutation	SNP	C	C	T	rs142575732	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr6:41555240C>T	ENST00000307972.4	+	6	874	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	FOXP4_ENST00000409208.1_Missense_Mutation_p.R288W|FOXP4_ENST00000373060.1_Missense_Mutation_p.R288W|FOXP4_ENST00000373057.3_Missense_Mutation_p.R286W|FOXP4_ENST00000373063.3_Missense_Mutation_p.R287W			Q8IVH2	FOXP4_HUMAN	forkhead box P4	288					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCTCACATCTCGGAGAGACAG	0.672											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000373060.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16						c.(862-864)Cgg>Tgg		forkhead box P4		C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	51.0	56.0	54.0		862,856,859	4.0	1.0	6	dbSNP_134	54	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense,missense	FOXP4	NM_001012426.1,NM_001012427.1,NM_138457.2	101,101,101	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	probably-damaging,probably-damaging,probably-damaging	288/681,286/679,287/668	41555240	7,12999	2203	4300	6503	SO:0001583	missense	116113				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr6:41555240C>T	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"""Forkhead boxes"""	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.862C>T	6.37:g.41555240C>T	ENSP00000309823:p.Arg288Trp		OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	902	FOXP4_ENST00000307972.4_Missense_Mutation_p.R288W|FOXP4_ENST00000373057.3_Missense_Mutation_p.R286W|FOXP4_ENST00000409208.1_Missense_Mutation_p.R288W|FOXP4_ENST00000373063.3_Missense_Mutation_p.R287W	p.R288W	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN			7	1320	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		288					Q5W098|Q7Z7F8|Q8IW55|Q96E19	Missense_Mutation	SNP	ENST00000307972.4	37	c.862C>T	CCDS34447.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627328	0.28978	0.0	8.14E-4	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.83	3.95	0.45737	.	0.365524	0.23622	N	0.046224	T	0.48822	0.1521	M	0.70275	2.135	0.30705	N	0.749847	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.984;0.984;0.973	T	0.51332	-0.8719	10	0.87932	D	0	.	10.7983	0.46474	0.4287:0.5713:0.0:0.0	.	287;286;288	Q8IW55;Q7Z7F8;Q8IVH2	.;.;FOXP4_HUMAN	W	288;287;288;286;288	ENSP00000362151:R288W;ENSP00000362154:R287W;ENSP00000386958:R288W;ENSP00000362148:R286W;ENSP00000309823:R288W	ENSP00000309823:R288W	R	+	1	2	FOXP4	41663218	1.000000	0.71417	0.991000	0.47740	0.034000	0.12701	5.876000	0.69667	1.229000	0.43630	-0.282000	0.10007	CGG		0.672	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		6	51	0	0	0	1	0	6	51				
ESYT1	23344	broad.mit.edu	37	12	56532267	56532267	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:56532267G>A	ENST00000394048.5	+	22	2681	c.2417G>A	c.(2416-2418)cGg>cAg	p.R806Q	ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000541590.1_Missense_Mutation_p.R816Q|ESYT1_ENST00000267113.4_Missense_Mutation_p.R816Q	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	806	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TATATGGAGCGGGCAGAGGAC	0.587																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(2416-2418)cGg>cAg		extended synaptotagmin-like protein 1							29.0	30.0	30.0					12																	56532267		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56532267G>A	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2417G>A	12.37:g.56532267G>A	ENSP00000377612:p.Arg806Gln					ESYT1_ENST00000541590.1_Missense_Mutation_p.R816Q|ESYT1_ENST00000267113.4_Missense_Mutation_p.R816Q|ESYT1_ENST00000550878.1_3'UTR	p.R806Q	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			22	2681	+			806			C2 4.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.2417G>A	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053778	0.55218	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.69306	-0.39;-0.39;-0.39	5.38	4.47	0.54385	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.67144	0.2862	L	0.38953	1.18	0.46437	D	0.999044	B;D	0.76494	0.097;0.999	B;D	0.64144	0.012;0.922	T	0.62455	-0.6851	10	0.28530	T	0.3	-22.377	7.5469	0.27772	0.1781:0.0:0.8219:0.0	.	816;806	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	Q	806;760;816;816	ENSP00000377612:R806Q;ENSP00000267113:R816Q;ENSP00000445952:R816Q	ENSP00000267113:R816Q	R	+	2	0	ESYT1	54818534	0.999000	0.42202	0.998000	0.56505	0.749000	0.42624	3.395000	0.52558	2.682000	0.91365	0.561000	0.74099	CGG		0.587	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		4	21	0	0	0	1	0	4	21				
AFAP1	60312	broad.mit.edu	37	4	7788025	7788025	+	Missense_Mutation	SNP	G	G	A	rs115544900	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:7788025G>A	ENST00000360265.4	-	11	1660	c.1426C>T	c.(1426-1428)Cgt>Tgt	p.R476C	AFAP1_ENST00000420658.1_Missense_Mutation_p.R476C|AFAP1_ENST00000358461.2_Missense_Mutation_p.R476C|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Missense_Mutation_p.R476C			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	476						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GATATAACACGCCTGTTCATG	0.468																																						ENST00000420658.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.(1426-1428)Cgt>Tgt		actin filament associated protein 1							124.0	122.0	123.0					4																	7788025		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7788025G>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1426C>T	4.37:g.7788025G>A	ENSP00000353402:p.Arg476Cys					AFAP1_ENST00000360265.4_Missense_Mutation_p.R476C|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Missense_Mutation_p.R476C|AFAP1_ENST00000382543.3_Missense_Mutation_p.R476C	p.R476C	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN			12	1698	-			476					A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.1426C>T	CCDS3397.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	20.5	4.004245	0.74932	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.23147	2.26;1.92;2.26;1.92	5.27	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.51312	0.1667	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.56323	-0.7998	10	0.72032	D	0.01	-20.5832	13.1946	0.59730	0.0:0.0:0.7115:0.2885	.	476;476	E9PDT7;Q8N556	.;AFAP1_HUMAN	C	476	ENSP00000353402:R476C;ENSP00000410689:R476C;ENSP00000351245:R476C;ENSP00000371983:R476C	ENSP00000351245:R476C	R	-	1	0	AFAP1	7838925	1.000000	0.71417	0.989000	0.46669	0.903000	0.53119	4.651000	0.61447	1.195000	0.43115	0.650000	0.86243	CGT		0.468	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		6	95	0	0	0	1	0	6	95				
MMAB	326625	broad.mit.edu	37	12	109998845	109998845	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:109998845C>T	ENST00000545712.2	-	7	977	c.584G>A	c.(583-585)cGt>cAt	p.R195H	MMAB_ENST00000540016.1_Splice_Site_p.R143H|MMAB_ENST00000266839.5_Splice_Site_p.R104H	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	195					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCCCTCTTACCGTCTCTCGGC	0.657																																						ENST00000545712.2																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6	GRCh37	CS061303	MMAB	S		c.e7+1		methylmalonic aciduria (cobalamin deficiency) cblB type	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						30.0	33.0	32.0					12																	109998845		2203	4298	6501	SO:0001630	splice_region_variant	326625				cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity	g.chr12:109998845C>T	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"""ATP:cob(I)alamin adenosyltransferase"", ""cilia and flagella associated protein 23"""	607568	"""methylmalonic aciduria (cobalamin deficiency) type B"""			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.584+1G>A	12.37:g.109998845C>T						MMAB_ENST00000540016.1_Splice_Site_p.R143_splice|MMAB_ENST00000266839.5_Splice_Site_p.R104_splice	p.R195_splice	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN			7	977	-			195					C5HU05|Q9BSH0	Splice_Site	SNP	ENST00000545712.2	37	c.584_splice	CCDS9131.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542639	0.65198	.	.	ENSG00000139428	ENST00000545712;ENST00000266839	D;D	0.95482	-3.72;-3.72	4.91	4.91	0.64330	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, PduO-type, N-terminal (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, EutT/PduO type (1);	0.378699	0.30285	N	0.009979	D	0.94062	0.8097	M	0.70275	2.135	0.45676	D	0.998598	P;P;P	0.51057	0.654;0.941;0.941	B;B;B	0.40506	0.12;0.18;0.331	D	0.93849	0.7143	9	.	.	.	-8.0484	15.4029	0.74855	0.0:1.0:0.0:0.0	.	104;195;195	B4DHP4;B2R6J3;Q96EY8	.;.;MMAB_HUMAN	H	195;104	ENSP00000445920:R195H;ENSP00000266839:R104H	.	R	-	2	0	MMAB	108483228	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	5.586000	0.67503	2.545000	0.85829	0.650000	0.86243	CGT		0.657	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2		Missense_Mutation	6	21	0	0	0	1	0	6	21				
RAB9A	9367	broad.mit.edu	37	X	13727114	13727114	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:13727114C>T	ENST00000464506.1	+	3	528	c.249C>T	c.(247-249)tgC>tgT	p.C83C	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	83					GTP catabolic process (GO:0006184)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CTGACTGCTGCCTGCTTACTT	0.438																																						ENST00000464506.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(247-249)tgC>tgT		RAB9A, member RAS oncogene family							144.0	137.0	140.0					X																	13727114		2203	4300	6503	SO:0001819	synonymous_variant	9367				protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chrX:13727114C>T	U44103	CCDS14156.1	Xp22.2	2010-04-19	2007-01-15	2007-01-15	ENSG00000123595	ENSG00000123595		"""RAB, member RAS oncogene"""	9792	protein-coding gene	gene with protein product		300284	"""RAB9, member RAS oncogene family"""	RAB9		9126495	Standard	NM_004251		Approved		uc010neh.3	P51151	OTTHUMG00000021156	ENST00000464506.1:c.249C>T	X.37:g.13727114C>T						RAB9A_ENST00000243325.5_3'UTR	p.C83C	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN			3	528	+			83					A8K390|Q6ICN1	Silent	SNP	ENST00000464506.1	37	c.249C>T	CCDS14156.1																																																																																				0.438	RAB9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055802.1	NM_004251		15	80	0	0	0	1	0	15	80				
RCVRN	5957	broad.mit.edu	37	17	9804388	9804388	+	Silent	SNP	G	G	A	rs534691469	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:9804388G>A	ENST00000226193.5	-	2	851	c.411C>T	c.(409-411)gaC>gaT	p.D137D	RCVRN_ENST00000570909.3_5'UTR	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	137					phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GGAGCTTCACGTCCTCGGGAG	0.453													G|||	4	0.000798722	0.0	0.0	5008	,	,		18963	0.0		0.0	False		,,,				2504	0.0041					ENST00000226193.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						c.(409-411)gaC>gaT		recoverin							98.0	93.0	95.0					17																	9804388		2203	4300	6503	SO:0001819	synonymous_variant	5957				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr17:9804388G>A	BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"""EF-hand domain containing"""	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.411C>T	17.37:g.9804388G>A						RCVRN_ENST00000570909.2_Silent_p.D6D	p.D137D	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN			2	851	-			137					Q53XL0	Silent	SNP	ENST00000226193.5	37	c.411C>T	CCDS11151.1																																																																																				0.453	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	NM_002903		12	24	0	0	0	1	0	12	24				
ICMT	23463	broad.mit.edu	37	1	6294999	6294999	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:6294999G>A	ENST00000343813.5	-	2	259	c.231C>T	c.(229-231)ttC>ttT	p.F77F	LINC00337_ENST00000429480.2_RNA|ICMT_ENST00000362035.3_Silent_p.F77F|LINC00337_ENST00000441724.1_RNA	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	77					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|positive regulation of cell proliferation (GO:0008284)|protein targeting to membrane (GO:0006612)|regulation of Ras protein signal transduction (GO:0046578)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cAMP response element binding protein binding (GO:0008140)|protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity (GO:0004671)			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TGCCGCAGCCGAACACAAACC	0.507																																						ENST00000343813.5																			0				NS(1)|endometrium(2)	3						c.(229-231)ttC>ttT		isoprenylcysteine carboxyl methyltransferase							99.0	101.0	100.0					1																	6294999		2203	4300	6503	SO:0001819	synonymous_variant	23463				protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity	g.chr1:6294999G>A	AF064084	CCDS61.1	1p36	2010-04-29			ENSG00000116237	ENSG00000116237	2.1.1.100		5350	protein-coding gene	gene with protein product	"""protein-S-isoprenylcysteine O-methyltransferase"""	605851				9614111, 10441503	Standard	XM_005263437		Approved	PCCMT, HSTE14, PPMT	uc001amk.3	O60725	OTTHUMG00000001254	ENST00000343813.5:c.231C>T	1.37:g.6294999G>A						ICMT_ENST00000362035.3_Silent_p.F77F	p.F77F	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	2	259	-	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	77					Q6FHT0	Silent	SNP	ENST00000343813.5	37	c.231C>T	CCDS61.1																																																																																				0.507	ICMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003681.1	NM_012405		19	42	0	0	0	1	0	19	42				
GPRIN3	285513	broad.mit.edu	37	4	90169157	90169157	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:90169157G>C	ENST00000609438.1	-	2	2623	c.2105C>G	c.(2104-2106)gCa>gGa	p.A702G	GPRIN3_ENST00000333209.4_Missense_Mutation_p.A702G	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	702										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CAGGGACTCTGCGTCCAAGGA	0.502																																						ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(2104-2106)gCa>gGa		GPRIN family member 3							72.0	69.0	70.0					4																	90169157		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90169157G>C	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.2105C>G	4.37:g.90169157G>C	ENSP00000476603:p.Ala702Gly						p.A702G	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	2623	-		Hepatocellular(203;0.114)	702					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.2105C>G	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659069	0.47467	.	.	ENSG00000185477	ENST00000333209	T	0.24538	1.85	5.12	5.12	0.69794	.	0.248643	0.21192	N	0.078633	T	0.18676	0.0448	N	0.14661	0.345	0.39830	D	0.972961	B	0.29805	0.257	B	0.25614	0.062	T	0.10245	-1.0638	10	0.59425	D	0.04	-8.5156	18.7493	0.91807	0.0:0.0:1.0:0.0	.	702	Q6ZVF9	GRIN3_HUMAN	G	702	ENSP00000328672:A702G	ENSP00000328672:A702G	A	-	2	0	GPRIN3	90388180	1.000000	0.71417	0.958000	0.39756	0.167000	0.22549	6.231000	0.72307	2.654000	0.90174	0.655000	0.94253	GCA		0.502	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		6	35	0	0	0	1	0	6	35				
PRG4	10216	broad.mit.edu	37	1	186280171	186280171	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:186280171T>C	ENST00000445192.2	+	9	3550	c.3505T>C	c.(3505-3507)Tat>Cat	p.Y1169H	PRG4_ENST00000367486.3_Missense_Mutation_p.Y1126H|PRG4_ENST00000367483.4_Missense_Mutation_p.Y1128H|PRG4_ENST00000367484.3_Missense_Mutation_p.Y698H|PRG4_ENST00000367485.4_Missense_Mutation_p.Y1076H|RNU6-1240P_ENST00000365155.1_RNA	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1169					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TTTAGGTCATTATTTCTGGAT	0.368																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(3505-3507)Tat>Cat		proteoglycan 4							128.0	123.0	125.0					1																	186280171		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186280171T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3505T>C	1.37:g.186280171T>C	ENSP00000399679:p.Tyr1169His					PRG4_ENST00000367484.3_Missense_Mutation_p.Y698H|PRG4_ENST00000367485.4_Missense_Mutation_p.Y1076H|PRG4_ENST00000367486.3_Missense_Mutation_p.Y1126H|PRG4_ENST00000367483.4_Missense_Mutation_p.Y1128H	p.Y1169H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			9	3550	+			1169			Hemopexin-like 1.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.3505T>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.196912	0.38806	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	4.53	4.53	0.55603	Hemopexin/matrixin (2);	0.000000	0.39834	U	0.001241	T	0.42040	0.1185	M	0.76170	2.325	0.41800	D	0.98991	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.995;0.996;0.988;0.995	T	0.44982	-0.9292	10	0.87932	D	0	-6.9519	14.1672	0.65486	0.0:0.0:0.0:1.0	.	1035;1076;1169;1128	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	H	1126;698;1128;1076;1169	ENSP00000356456:Y1126H;ENSP00000356454:Y698H;ENSP00000356453:Y1128H;ENSP00000356455:Y1076H;ENSP00000399679:Y1169H	ENSP00000356453:Y1128H	Y	+	1	0	PRG4	184546794	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.326000	0.79133	1.820000	0.53075	0.477000	0.44152	TAT		0.368	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		15	40	0	0	0	1	0	15	40				
ROPN1	54763	broad.mit.edu	37	3	123699209	123699209	+	Intron	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:123699209G>A	ENST00000184183.4	-	3	457				ROPN1_ENST00000405845.3_Intron|ROPN1_ENST00000459660.1_Silent_p.Y40Y|ROPN1_ENST00000495093.1_Silent_p.Y40Y|ROPN1_ENST00000479867.1_Silent_p.Y40Y|ROPN1_ENST00000484329.1_Silent_p.Y40Y	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1							cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		AAAGGAGCACGTACTCGGCTG	0.607																																						ENST00000479867.1																			0				lung(2)|ovary(1)|skin(1)	4						c.(118-120)taC>taT		rhophilin associated tail protein 1							73.0	70.0	71.0					3																	123699209		2203	4300	6503	SO:0001627	intron_variant	54763				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr3:123699209G>A	AF231410	CCDS3026.1	3q21.1	2011-01-20	2011-01-20			ENSG00000065371			17692	protein-coding gene	gene with protein product	"""cancer/testis antigen 91"""	611757	"""ropporin, rhophilin associated protein 1"""			10591629	Standard	NM_017578		Approved	ODF6, ropporin, ROPN1A, CT91	uc003eha.3	Q9HAT0		ENST00000184183.4:c.116+3C>T	3.37:g.123699209G>A						ROPN1_ENST00000405845.3_Intron|ROPN1_ENST00000184183.4_Intron|ROPN1_ENST00000459660.1_Silent_p.Y40Y|ROPN1_ENST00000484329.1_Silent_p.Y40Y|ROPN1_ENST00000495093.1_Silent_p.Y40Y	p.Y40Y			Q9HAT0	ROP1A_HUMAN		GBM - Glioblastoma multiforme(114;0.148)	2	368	-			40			RIIa.		D3DN99|Q9UF38	Silent	SNP	ENST00000184183.4	37	c.120C>T	CCDS3026.1																																																																																				0.607	ROPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356188.2	NM_017578		22	38	0	0	0	1	0	22	38				
PLXNA2	5362	broad.mit.edu	37	1	208390533	208390533	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:208390533G>A	ENST00000367033.3	-	2	1492	c.735C>T	c.(733-735)taC>taT	p.Y245Y		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	245	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TAGCAAAGCCGTAGATGTAGA	0.537																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(733-735)taC>taT		plexin A2							159.0	166.0	163.0					1																	208390533		2203	4300	6503	SO:0001819	synonymous_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208390533G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.735C>T	1.37:g.208390533G>A							p.Y245Y	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	2	1492	-			245			Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	c.735C>T	CCDS31013.1																																																																																				0.537	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		39	124	0	0	0	1	0	39	124				
SPECC1	92521	broad.mit.edu	37	17	20160892	20160892	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:20160892C>T	ENST00000261503.5	+	11	2860	c.2809C>T	c.(2809-2811)Cgg>Tgg	p.R937W	SPECC1_ENST00000395527.4_Missense_Mutation_p.R937W|SPECC1_ENST00000395530.2_Missense_Mutation_p.R856W|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Missense_Mutation_p.R277W	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	937					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TGCTTCCACCCGGGCATGGAA	0.502																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(2566-2568)Cgg>Tgg		sperm antigen with calponin homology and coiled-coil domains 1							50.0	50.0	50.0					17																	20160892		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20160892C>T	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2809C>T	17.37:g.20160892C>T	ENSP00000261503:p.Arg937Trp					SPECC1_ENST00000261503.5_Missense_Mutation_p.R937W|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Missense_Mutation_p.R937W|SPECC1_ENST00000536879.1_Missense_Mutation_p.R277W	p.R856W	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	9	2774	+			937					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.2566C>T	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	C	8.204	0.798732	0.16397	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000536879;ENST00000395527	T;D	0.94687	-0.09;-3.49	4.66	-0.0195	0.13959	.	0.647548	0.16262	N	0.222218	D	0.85517	0.5715	N	0.08118	0	0.09310	N	1	P;D;P	0.58620	0.738;0.983;0.738	P;P;B	0.45712	0.462;0.491;0.39	T	0.79831	-0.1637	10	0.56958	D	0.05	-11.3215	4.1863	0.10400	0.3263:0.1688:0.5049:0.0	.	937;856;937	A8MV89;Q5M775-4;Q5M775	.;.;CYTSB_HUMAN	W	937;937;277;856	ENSP00000261503:R937W;ENSP00000438294:R277W	ENSP00000261503:R937W	R	+	1	2	SPECC1	20101484	0.252000	0.23972	0.002000	0.10522	0.000000	0.00434	0.425000	0.21346	-0.028000	0.13850	-1.763000	0.00667	CGG		0.502	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		16	23	0	0	0	1	0	16	23				
SERPINA10	51156	broad.mit.edu	37	14	94756471	94756471	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:94756471G>A	ENST00000393096.1	-	2	925	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C	SERPINA10_ENST00000554173.1_Missense_Mutation_p.R154C|SERPINA10_ENST00000554723.1_Missense_Mutation_p.R194C|SERPINA10_ENST00000261994.4_Missense_Mutation_p.R154C	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	154					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCCAGGTTGCGGGAGAGGGTC	0.517																																						ENST00000554723.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(580-582)Cgc>Tgc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10							55.0	62.0	60.0					14																	94756471		2203	4300	6503	SO:0001583	missense	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94756471G>A	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.460C>T	14.37:g.94756471G>A	ENSP00000376809:p.Arg154Cys					SERPINA10_ENST00000554173.1_Missense_Mutation_p.R154C|SERPINA10_ENST00000261994.4_Missense_Mutation_p.R154C|SERPINA10_ENST00000393096.1_Missense_Mutation_p.R154C	p.R194C			Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	998	-		all_cancers(154;0.105)	154					A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	c.580C>T	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	G	8.354	0.831583	0.16820	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	4.97	-1.08	0.09936	Serpin domain (3);	2.161880	0.01822	N	0.034133	T	0.76263	0.3963	L	0.38175	1.15	0.09310	N	1	P	0.52170	0.951	B	0.38616	0.277	T	0.67526	-0.5648	10	0.72032	D	0.01	.	3.8622	0.09001	0.0828:0.182:0.1725:0.5628	.	154	Q9UK55	ZPI_HUMAN	C	194;154;154;154	ENSP00000450896:R194C;ENSP00000376809:R154C;ENSP00000261994:R154C;ENSP00000450971:R154C	ENSP00000261994:R154C	R	-	1	0	SERPINA10	93826224	0.026000	0.19158	0.001000	0.08648	0.006000	0.05464	0.030000	0.13688	-0.183000	0.10585	0.313000	0.20887	CGC		0.517	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		15	54	0	0	0	1	0	15	54				
TRPM4	54795	broad.mit.edu	37	19	49714069	49714069	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:49714069A>G	ENST00000252826.5	+	22	3557	c.3431A>G	c.(3430-3432)gAc>gGc	p.D1144G	TRPM4_ENST00000355712.5_Missense_Mutation_p.D790G|TRPM4_ENST00000427978.2_Missense_Mutation_p.D999G	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1144	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CGGGAGAGCGACTCCGAGCGT	0.612																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(3430-3432)gAc>gGc		transient receptor potential cation channel, subfamily M, member 4							25.0	27.0	26.0					19																	49714069		2201	4300	6501	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49714069A>G	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3431A>G	19.37:g.49714069A>G	ENSP00000252826:p.Asp1144Gly					TRPM4_ENST00000355712.5_Missense_Mutation_p.D790G|TRPM4_ENST00000427978.2_Missense_Mutation_p.D999G	p.D1144G	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	22	3557	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	1144			Calmodulin-binding.		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.3431A>G	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.203933	0.79127	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.58797	0.36;0.31;0.5	5.09	5.09	0.68999	.	0.106720	0.64402	D	0.000010	T	0.68016	0.2955	M	0.69823	2.125	0.52501	D	0.999956	D;P;P;D	0.64830	0.994;0.901;0.837;0.989	P;P;P;P	0.54706	0.759;0.634;0.634;0.68	T	0.69698	-0.5075	10	0.41790	T	0.15	-29.1724	14.1529	0.65398	1.0:0.0:0.0:0.0	.	790;970;999;1144	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	G	1144;999;790	ENSP00000252826:D1144G;ENSP00000407492:D999G;ENSP00000347944:D790G	ENSP00000252826:D1144G	D	+	2	0	TRPM4	54405881	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.199000	0.72112	2.047000	0.60756	0.459000	0.35465	GAC		0.612	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		3	14	0	0	0	1	0	3	14				
FOXA1	3169	broad.mit.edu	37	14	38061250	38061250	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:38061250G>A	ENST00000250448.2	-	2	800	c.739C>T	c.(739-741)Cac>Tac	p.H247Y	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.H214Y	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	247					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GAGTCCGGGTGCAGCGTCCAG	0.667																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(739-741)Cac>Tac		forkhead box A1							33.0	31.0	32.0					14																	38061250		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061250G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.739C>T	14.37:g.38061250G>A	ENSP00000250448:p.His247Tyr					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.H214Y	p.H247Y	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	800	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		247					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.739C>T	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459017	0.84317	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95588	-3.75;-3.75	4.0	4.0	0.46444	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97848	0.9293	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98816	1.0745	10	0.87932	D	0	.	15.0053	0.71507	0.0:0.0:1.0:0.0	.	247	P55317	FOXA1_HUMAN	Y	247;214	ENSP00000250448:H247Y;ENSP00000440178:H214Y	ENSP00000250448:H247Y	H	-	1	0	FOXA1	37131001	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.683000	0.84093	2.057000	0.61298	0.400000	0.26472	CAC		0.667	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			12	19	0	0	0	1	0	12	19				
LFNG	3955	broad.mit.edu	37	7	2565181	2565181	+	Missense_Mutation	SNP	C	C	T	rs143479850	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:2565181C>T	ENST00000222725.5	+	4	735	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	LFNG_ENST00000359574.3_Missense_Mutation_p.R239W|LFNG_ENST00000402506.1_Missense_Mutation_p.R168W|MIR4648_ENST00000580107.1_RNA|LFNG_ENST00000402045.1_Missense_Mutation_p.R110W|LFNG_ENST00000338732.3_Missense_Mutation_p.R110W	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	239					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GGCCATGGAGCGGGTCAGCGA	0.716																																						ENST00000222725.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6						c.(715-717)Cgg>Tgg		LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4402		0,0,2201	32.0	32.0	32.0		715,715,502,328	1.5	0.0	7	dbSNP_134	32	2,8594	2.2+/-6.3	0,2,4296	yes	missense,missense,missense,missense	LFNG	NM_001040167.1,NM_001040168.1,NM_001166355.1,NM_002304.2	101,101,101,101	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	239/380,239/362,168/309,110/251	2565181	2,12996	2201	4298	6499	SO:0001583	missense	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2565181C>T	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.715C>T	7.37:g.2565181C>T	ENSP00000222725:p.Arg239Trp					LFNG_ENST00000402506.1_Missense_Mutation_p.R168W|LFNG_ENST00000402045.1_Missense_Mutation_p.R110W|LFNG_ENST00000338732.3_Missense_Mutation_p.R110W|LFNG_ENST00000359574.3_Missense_Mutation_p.R239W	p.R239W	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	4	735	+		Ovarian(82;0.0112)	239					B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Missense_Mutation	SNP	ENST00000222725.5	37	c.715C>T	CCDS34587.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876409	0.51801	0.0	2.33E-4	ENSG00000106003	ENST00000402506;ENST00000402045;ENST00000338732;ENST00000222725;ENST00000359574	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	4.95	1.53	0.23141	.	0.047636	0.85682	D	0.000000	T	0.78104	0.4231	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	T	0.77062	-0.2727	10	0.87932	D	0	-3.1195	7.4773	0.27385	0.6314:0.2687:0.0:0.0999	.	239;239	Q8NES3-3;Q8NES3	.;LFNG_HUMAN	W	168;110;110;239;239	ENSP00000385764:R168W;ENSP00000384786:R110W;ENSP00000343095:R110W;ENSP00000222725:R239W;ENSP00000352579:R239W	ENSP00000222725:R239W	R	+	1	2	LFNG	2531707	1.000000	0.71417	0.021000	0.16686	0.573000	0.36030	2.771000	0.47670	0.408000	0.25621	0.561000	0.74099	CGG		0.716	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	NM_002304		4	10	0	0	0	1	0	4	10				
SLC12A7	10723	broad.mit.edu	37	5	1083970	1083970	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:1083970C>T	ENST00000264930.5	-	8	1062	c.1019G>A	c.(1018-1020)gGc>gAc	p.G340D		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	340					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCAGAAGAGGCCCCAGAGCGC	0.652																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(1018-1020)gGc>gAc		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						85.0	77.0	80.0					5																	1083970		2201	4300	6501	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1083970C>T	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1019G>A	5.37:g.1083970C>T	ENSP00000264930:p.Gly340Asp						p.G340D	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		8	1062	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		340					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.1019G>A	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	C	3.663	-0.069205	0.07228	.	.	ENSG00000113504	ENST00000264930	T	0.62498	0.02	3.67	2.47	0.30058	.	1.918370	0.01715	N	0.027955	T	0.39009	0.1062	N	0.12961	0.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45234	-0.9275	10	0.07325	T	0.83	.	0.8342	0.01137	0.2264:0.3761:0.2203:0.1772	.	340	Q9Y666	S12A7_HUMAN	D	340	ENSP00000264930:G340D	ENSP00000264930:G340D	G	-	2	0	SLC12A7	1136970	0.000000	0.05858	0.998000	0.56505	0.647000	0.38526	-1.350000	0.02624	1.763000	0.52060	0.471000	0.43371	GGC		0.652	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		11	23	0	0	0	1	0	11	23				
CNR1	1268	broad.mit.edu	37	6	88853864	88853864	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr6:88853864G>A	ENST00000537554.1	-	2	4692	c.1130C>T	c.(1129-1131)aCg>aTg	p.T377M	CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.T377M|CNR1_ENST00000468898.1_Missense_Mutation_p.T344M|CNR1_ENST00000535130.1_Missense_Mutation_p.T377M|CNR1_ENST00000549716.1_Missense_Mutation_p.T316M|CNR1_ENST00000369499.2_Missense_Mutation_p.T377M|CNR1_ENST00000549890.1_Missense_Mutation_p.T377M|CNR1_ENST00000369501.2_Missense_Mutation_p.T377M	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	377					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)	p.T377M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGCAAACACCGTCTTAATGAG	0.522																																						ENST00000537554.1																			1	Substitution - Missense(1)	p.T377M(1)	large_intestine(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(1129-1131)aCg>aTg		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						129.0	124.0	126.0					6																	88853864		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88853864G>A	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1130C>T	6.37:g.88853864G>A	ENSP00000441046:p.Thr377Met					CNR1_ENST00000369499.2_Missense_Mutation_p.T377M|CNR1_ENST00000549716.1_Missense_Mutation_p.T316M|CNR1_ENST00000428600.2_Missense_Mutation_p.T377M|CNR1_ENST00000535130.1_Missense_Mutation_p.T377M|CNR1_ENST00000549890.1_Missense_Mutation_p.T377M|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369501.2_Missense_Mutation_p.T377M|CNR1_ENST00000468898.1_Missense_Mutation_p.T344M	p.T377M	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4692	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	377					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.1130C>T	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812190	0.50527	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	6.05	6.05	0.98169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	L	0.43646	1.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	T	0.42032	-0.9475	10	0.62326	D	0.03	.	20.6086	0.99469	0.0:0.0:1.0:0.0	.	344;377	P21554-3;P21554	.;CNR1_HUMAN	M	377;377;377;377;377;344;377;316	ENSP00000358513:T377M;ENSP00000442689:T377M;ENSP00000441046:T377M;ENSP00000358511:T377M;ENSP00000446819:T377M;ENSP00000420188:T344M;ENSP00000412192:T377M;ENSP00000449549:T316M	ENSP00000358511:T377M	T	-	2	0	CNR1	88910583	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	7.876000	0.87215	2.880000	0.98712	0.655000	0.94253	ACG		0.522	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			7	52	0	0	0	1	0	7	52				
TARS2	80222	broad.mit.edu	37	1	150469374	150469374	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:150469374C>T	ENST00000369064.3	+	9	1044	c.1010C>T	c.(1009-1011)gCg>gTg	p.A337V	TARS2_ENST00000463555.1_Intron|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Intron|TARS2_ENST00000369054.2_Intron	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	337					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.A337V(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GCACTAGTGGCGTTTATCAGG	0.527																																						ENST00000369064.3																			1	Substitution - Missense(1)	p.A337V(1)	large_intestine(1)	cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(1009-1011)gCg>gTg		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)						64.0	55.0	58.0					1																	150469374		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150469374C>T	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1010C>T	1.37:g.150469374C>T	ENSP00000358060:p.Ala337Val					TARS2_ENST00000463555.1_Intron|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Intron|TARS2_ENST00000369054.2_Intron	p.A337V	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		9	1044	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		337					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.1010C>T	CCDS952.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529505	0.64860	.	.	ENSG00000143374	ENST00000369064	T	0.68903	-0.36	5.39	4.46	0.54185	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.359629	0.29293	N	0.012566	T	0.44456	0.1294	L	0.46819	1.47	0.80722	D	1	B	0.24963	0.115	B	0.18263	0.021	T	0.53215	-0.8470	10	0.62326	D	0.03	-5.8383	11.9664	0.53038	0.4674:0.5326:0.0:0.0	.	337	Q9BW92	SYTM_HUMAN	V	337	ENSP00000358060:A337V	ENSP00000358060:A337V	A	+	2	0	TARS2	148735998	1.000000	0.71417	0.979000	0.43373	0.989000	0.77384	5.003000	0.63959	1.463000	0.47967	0.655000	0.94253	GCG		0.527	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		5	32	0	0	0	1	0	5	32				
LARS2	23395	broad.mit.edu	37	3	45559536	45559536	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:45559536G>T	ENST00000415258.1	+	17	2327	c.2186G>T	c.(2185-2187)tGg>tTg	p.W729L	LARS2_ENST00000265537.3_Missense_Mutation_p.W729L|LARS2_ENST00000414984.1_Missense_Mutation_p.W686L|LARS2_ENST00000467936.1_3'UTR			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	729					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AGGAAGCTCTGGGAGTACAAG	0.517																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(2185-2187)tGg>tTg		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						51.0	48.0	49.0					3																	45559536		2203	4300	6503	SO:0001583	missense	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45559536G>T	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.2186G>T	3.37:g.45559536G>T	ENSP00000408576:p.Trp729Leu					LARS2_ENST00000467936.1_3'UTR|LARS2_ENST00000414984.1_Missense_Mutation_p.W686L|LARS2_ENST00000265537.3_Missense_Mutation_p.W729L	p.W729L			Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	17	2327	+			729						Missense_Mutation	SNP	ENST00000415258.1	37	c.2186G>T	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548566	0.27652	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.05855	3.38;3.38;3.38	5.66	3.72	0.42706	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.189858	0.49916	D	0.000133	T	0.08980	0.0222	L	0.46741	1.465	0.80722	D	1	P;P	0.51537	0.946;0.904	P;P	0.48598	0.583;0.583	T	0.17198	-1.0377	10	0.25106	T	0.35	-5.603	10.7222	0.46046	0.0695:0.0:0.8002:0.1303	.	686;729	E9PHM2;Q15031	.;SYLM_HUMAN	L	729;729;686	ENSP00000265537:W729L;ENSP00000408576:W729L;ENSP00000412893:W686L	ENSP00000265537:W729L	W	+	2	0	LARS2	45534540	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.059000	0.64306	2.666000	0.90696	0.655000	0.94253	TGG		0.517	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		7	22	1	0	0.00198382	1	0.00200346	7	22				
ABCC5	10057	broad.mit.edu	37	3	183667646	183667646	+	Missense_Mutation	SNP	C	C	T	rs376038853		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:183667646C>T	ENST00000334444.6	-	22	3362	c.3122G>A	c.(3121-3123)cGt>cAt	p.R1041H	ABCC5_ENST00000265586.6_Intron	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1041	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	ATTGTCCAGACGCTTCAGCTC	0.562																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3121-3123)cGt>cAt		ATP-binding cassette, sub-family C (CFTR/MRP), member 5		C	HIS/ARG	1,4213		0,1,2106	121.0	130.0	127.0		3122	4.9	1.0	3		127	1,8447		0,1,4223	no	missense	ABCC5	NM_005688.2	29	0,2,6329	TT,TC,CC		0.0118,0.0237,0.0158	probably-damaging	1041/1438	183667646	2,12660	2107	4224	6331	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183667646C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3122G>A	3.37:g.183667646C>T	ENSP00000333926:p.Arg1041His					ABCC5_ENST00000265586.6_Intron	p.R1041H	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		22	3362	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1041			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.3122G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003048	0.93287	2.37E-4	1.18E-4	ENSG00000114770	ENST00000334444	D	0.90444	-2.67	5.81	4.94	0.65067	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.047266	0.85682	N	0.000000	D	0.96623	0.8898	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.97496	1.0057	10	0.66056	D	0.02	-8.3426	14.6272	0.68629	0.0:0.9305:0.0:0.0695	.	1041	O15440	MRP5_HUMAN	H	1041	ENSP00000333926:R1041H	ENSP00000333926:R1041H	R	-	2	0	ABCC5	185150340	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.802000	0.85969	1.461000	0.47929	0.655000	0.94253	CGT		0.562	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		6	74	0	0	0	1	0	6	74				
TPST1	8460	broad.mit.edu	37	7	65705780	65705780	+	Missense_Mutation	SNP	G	G	A	rs542123303		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:65705780G>A	ENST00000304842.5	+	2	793	c.368G>A	c.(367-369)cGc>cAc	p.R123H	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	123					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GAGAAGATCCGCCTGGATGAG	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20253	0.0		0.0	False		,,,				2504	0.0					ENST00000304842.5																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(367-369)cGc>cAc		tyrosylprotein sulfotransferase 1							113.0	109.0	110.0					7																	65705780		2203	4300	6503	SO:0001583	missense	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65705780G>A	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.368G>A	7.37:g.65705780G>A	ENSP00000302413:p.Arg123His					TPST1_ENST00000480281.1_Intron	p.R123H	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN			2	793	+			123					A4D2M0|Q6FGM7	Missense_Mutation	SNP	ENST00000304842.5	37	c.368G>A	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888521	0.91814	.	.	ENSG00000169902	ENST00000304842;ENST00000544114;ENST00000451388	.	.	.	5.78	5.78	0.91487	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.85856	0.5794	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.76071	0.828;0.987	D	0.86560	0.1840	9	0.44086	T	0.13	-12.2145	19.0054	0.92848	0.0:0.0:1.0:0.0	.	123;123	F5H7U7;O60507	.;TPST1_HUMAN	H	123	.	ENSP00000302413:R123H	R	+	2	0	TPST1	65343215	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	8.786000	0.91826	2.723000	0.93209	0.585000	0.79938	CGC		0.507	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596		4	56	0	0	0	1	0	4	56				
MTMR3	8897	broad.mit.edu	37	22	30416462	30416462	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr22:30416462C>A	ENST00000401950.2	+	17	3156	c.2814C>A	c.(2812-2814)gcC>gcA	p.A938A	MTMR3_ENST00000323630.5_Silent_p.A802A|CTA-85E5.10_ENST00000453743.2_RNA|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Silent_p.A938A|MTMR3_ENST00000333027.3_Silent_p.A938A|MTMR3_ENST00000351488.3_Silent_p.A938A	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	938					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AAAACAGGGCCTCAGAGCAGC	0.587																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(2812-2814)gcC>gcA		myotubularin related protein 3							80.0	73.0	75.0					22																	30416462		2203	4300	6503	SO:0001819	synonymous_variant	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30416462C>A	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2814C>A	22.37:g.30416462C>A						MTMR3_ENST00000323630.5_Silent_p.A802A|MTMR3_ENST00000351488.3_Silent_p.A938A|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Silent_p.A938A|MTMR3_ENST00000401950.2_Silent_p.A938A	p.A938A	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	3142	+			938					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	c.2814C>A	CCDS13870.1																																																																																				0.587	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		20	47	1	0	1.56452e-12	1	1.67101e-12	20	47				
TTN	7273	broad.mit.edu	37	2	179440959	179440959	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:179440959C>T	ENST00000591111.1	-	276	65201	c.64977G>A	c.(64975-64977)caG>caA	p.Q21659Q	TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.Q14360Q|TTN_ENST00000460472.2_Silent_p.Q14235Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.Q14427Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.Q23300Q|TTN_ENST00000342992.6_Silent_p.Q20732Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21659	Fibronectin type-III 57. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACAACGAACTGAGTGATTC	0.468																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(69898-69900)caG>caA		titin							73.0	72.0	72.0					2																	179440959		1903	4129	6032	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179440959C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64977G>A	2.37:g.179440959C>T						TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.Q14360Q|TTN_ENST00000460472.2_Silent_p.Q14235Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.Q21659Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.Q20732Q|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.Q14427Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA	p.Q23300Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	70124	-			21659			Fibronectin type-III 69.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.69900G>A																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	32	0	0	0	1	0	5	32				
NBEA	26960	broad.mit.edu	37	13	35770248	35770248	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr13:35770248G>A	ENST00000400445.3	+	31	5709	c.5175G>A	c.(5173-5175)acG>acA	p.T1725T	NBEA_ENST00000310336.4_Silent_p.T1725T|NBEA_ENST00000540320.1_Silent_p.T1725T|NBEA_ENST00000379939.2_Silent_p.T1722T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1725					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTAGTGAAACGTTGAAGCCTG	0.413																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(5173-5175)acG>acA		neurobeachin							86.0	84.0	85.0					13																	35770248		1894	4146	6040	SO:0001819	synonymous_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35770248G>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5175G>A	13.37:g.35770248G>A						NBEA_ENST00000379939.2_Silent_p.T1722T|NBEA_ENST00000400445.3_Silent_p.T1725T|NBEA_ENST00000310336.4_Silent_p.T1725T	p.T1725T			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	31	5709	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1725					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	c.5175G>A	CCDS45026.1																																																																																				0.413	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		17	45	0	0	0	1	0	17	45				
F7	2155	broad.mit.edu	37	13	113773158	113773158	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr13:113773158C>T	ENST00000375581.3	+	9	1272	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W	F7_ENST00000541084.1_Missense_Mutation_p.R344W|F7_ENST00000346342.3_Missense_Mutation_p.R391W	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	413	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		R -> G (in FA7D). {ECO:0000269|PubMed:18976247}.|R -> Q (may be associated with decreased susceptibility to myocardial infarction; dbSNP:rs6046). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:10984565, ECO:0000269|PubMed:16292673, ECO:0000269|PubMed:8043443, ECO:0000269|PubMed:8844208, ECO:0000269|Ref.6}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CACCCACTACCGGGGCACGTG	0.627																																						ENST00000375581.3																			0				large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	GRCh37	CM090316	F7	M		c.(1237-1239)Cgg>Tgg		coagulation factor VII (serum prothrombin conversion accelerator)	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						27.0	28.0	28.0					13																	113773158		2201	4299	6500	SO:0001583	missense	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113773158C>T		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.1237C>T	13.37:g.113773158C>T	ENSP00000364731:p.Arg413Trp					F7_ENST00000541084.1_Missense_Mutation_p.R344W|F7_ENST00000346342.3_Missense_Mutation_p.R391W	p.R413W	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		9	1272	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	413		R -> G (in FA7D).|R -> Q (may be associated with decreased susceptibility to myocardial infarction; dbSNP:rs6046).	Peptidase S1.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	c.1237C>T	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751666	0.31046	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.82081	-1.57;-1.57;-1.57	4.11	2.14	0.27477	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.744753	0.11868	N	0.521729	D	0.87993	0.6318	M	0.72118	2.19	0.30246	N	0.794537	D;D;D	0.89917	0.999;1.0;1.0	P;P;P	0.60473	0.833;0.802;0.875	T	0.82676	-0.0339	10	0.72032	D	0.01	.	10.5384	0.45018	0.6056:0.3944:0.0:0.0	.	344;391;413	F5H8B0;P08709-2;P08709	.;.;FA7_HUMAN	W	391;344;413	ENSP00000329546:R391W;ENSP00000442051:R344W;ENSP00000364731:R413W	ENSP00000329546:R391W	R	+	1	2	F7	112821159	0.622000	0.27085	0.043000	0.18650	0.016000	0.09150	1.286000	0.33273	1.024000	0.39682	0.467000	0.42956	CGG		0.627	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		3	17	0	0	0	1	0	3	17				
ZNF44	51710	broad.mit.edu	37	19	12383898	12383898	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:12383898C>T	ENST00000356109.5	-	5	1434	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D	ZNF44_ENST00000355684.5_Missense_Mutation_p.G391D	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TTTATGAGGGCCATCTCCAGT	0.428																																						ENST00000356109.5																			0				ovary(1)	1						c.(1315-1317)gGc>gAc		zinc finger protein 44							80.0	82.0	81.0					19																	12383898		2203	4300	6503	SO:0001583	missense	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12383898C>T	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.1316G>A	19.37:g.12383898C>T	ENSP00000348419:p.Gly439Asp					ZNF44_ENST00000355684.5_Missense_Mutation_p.G391D	p.G439D	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	5	1434	-		Renal(1328;0.157)	439					B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	c.1316G>A	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178539	0.57692	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.17370	2.28;3.18;2.28	0.997	-0.0892	0.13670	Zinc finger, C2H2 (1);	.	.	.	.	T	0.19406	0.0466	N	0.13272	0.32	.	.	.	D;D	0.89917	0.999;1.0	D;D	0.97110	0.984;1.0	T	0.27606	-1.0069	8	0.87932	D	0	.	4.8655	0.13606	0.0:0.2215:0.0:0.7785	.	439;391	P15621;F8W7T7	ZNF44_HUMAN;.	D	439;439;391;391	ENSP00000377008:G439D;ENSP00000348419:G439D;ENSP00000347910:G391D	ENSP00000347910:G391D	G	-	2	0	ZNF44	12244898	0.000000	0.05858	0.005000	0.12908	0.758000	0.43043	-2.231000	0.01206	-0.055000	0.13244	0.305000	0.20034	GGC		0.428	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		31	68	0	0	0	1	0	31	68				
OR3A1	4994	broad.mit.edu	37	17	3195143	3195143	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:3195143C>T	ENST00000323404.1	-	1	733	c.734G>A	c.(733-735)gGc>gAc	p.G245D	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	245					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GAGGTGGGAGCCACATGTGGA	0.493																																					GBM(20;287 516 18743 28660 36594)	ENST00000323404.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(733-735)gGc>gAc		olfactory receptor, family 3, subfamily A, member 1							81.0	78.0	79.0					17																	3195143		2203	4300	6503	SO:0001583	missense	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195143C>T	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.734G>A	17.37:g.3195143C>T	ENSP00000313803:p.Gly245Asp					RP11-64J4.2_ENST00000573491.1_RNA	p.G245D	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN			1	733	-			245					Q4VB06|Q6IFM4	Missense_Mutation	SNP	ENST00000323404.1	37	c.734G>A	CCDS11023.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908397	0.33721	.	.	ENSG00000180090	ENST00000323404	T	0.37915	1.17	5.01	3.97	0.46021	GPCR, rhodopsin-like superfamily (1);	0.254805	0.28365	N	0.015604	T	0.50069	0.1594	M	0.89785	3.06	0.09310	N	1	P	0.45126	0.851	P	0.47603	0.551	T	0.54906	-0.8223	10	0.87932	D	0	-15.9494	7.7715	0.29010	0.2745:0.577:0.1485:0.0	.	245	P47881	OR3A1_HUMAN	D	245	ENSP00000313803:G245D	ENSP00000313803:G245D	G	-	2	0	OR3A1	3141893	0.000000	0.05858	0.988000	0.46212	0.223000	0.24884	0.110000	0.15437	2.753000	0.94483	0.650000	0.86243	GGC		0.493	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			23	53	0	0	0	1	0	23	53				
TGFB1I1	7041	broad.mit.edu	37	16	31485718	31485718	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:31485718C>T	ENST00000394863.3	+	6	591	c.461C>T	c.(460-462)gCc>gTc	p.A154V	TGFB1I1_ENST00000361773.3_Missense_Mutation_p.A137V|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A137V|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A137V	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	154	Interaction with PTK2B/PYK2.|Transcription activation. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						GCCACCTCAGCCACTCTGGAG	0.577																																						ENST00000394863.3																			0				lung(8)|upper_aerodigestive_tract(1)	9						c.(460-462)gCc>gTc		transforming growth factor beta 1 induced transcript 1							72.0	68.0	69.0					16																	31485718		2197	4300	6497	SO:0001583	missense	7041				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding	g.chr16:31485718C>T	AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.461C>T	16.37:g.31485718C>T	ENSP00000378332:p.Ala154Val					TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A137V|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A137V|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.A137V	p.A154V	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN			6	591	+			154			Interaction with PTK2B.|Transcription activation (By similarity).		B2R8D5|Q9BPW3|Q9Y2V5	Missense_Mutation	SNP	ENST00000394863.3	37	c.461C>T	CCDS42156.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161581	0.94727	.	.	ENSG00000140682	ENST00000394863;ENST00000361773;ENST00000394858	T;T;T	0.58797	0.31;0.32;0.32	5.23	5.23	0.72850	.	0.121563	0.53938	D	0.000044	T	0.77532	0.4144	M	0.82517	2.595	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.81174	-0.1053	10	0.72032	D	0.01	.	16.3165	0.82930	0.0:1.0:0.0:0.0	.	154	O43294	TGFI1_HUMAN	V	154;137;137	ENSP00000378332:A154V;ENSP00000355117:A137V;ENSP00000378327:A137V	ENSP00000355117:A137V	A	+	2	0	TGFB1I1	31393219	1.000000	0.71417	0.965000	0.40720	0.857000	0.48899	6.662000	0.74426	2.430000	0.82344	0.655000	0.94253	GCC		0.577	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255630.3			4	58	0	0	0	1	0	4	58				
MIOS	54468	broad.mit.edu	37	7	7645694	7645694	+	Silent	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:7645694T>C	ENST00000340080.4	+	12	2944	c.2523T>C	c.(2521-2523)agT>agC	p.S841S	MIOS_ENST00000405785.1_Silent_p.S841S	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	841						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATATGCTTAGTTGGTTCAGGT	0.388																																						ENST00000340080.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2521-2523)agT>agC		missing oocyte, meiosis regulator, homolog (Drosophila)							278.0	253.0	261.0					7																	7645694		1964	4158	6122	SO:0001819	synonymous_variant	54468							g.chr7:7645694T>C		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.2523T>C	7.37:g.7645694T>C						MIOS_ENST00000405785.1_Silent_p.S841S	p.S841S	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN			12	2944	+			841					B2RTV6|O75216|Q7L551|Q9H092	Silent	SNP	ENST00000340080.4	37	c.2523T>C	CCDS43554.1																																																																																				0.388	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		47	89	0	0	0	1	0	47	89				
DDX50	79009	broad.mit.edu	37	10	70679687	70679687	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:70679687G>A	ENST00000373585.3	+	8	1296	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	397	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TATTTTCTGTGAGACCAAGAA	0.413																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(1189-1191)Gag>Aag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							116.0	113.0	114.0					10																	70679687		2203	4300	6503	SO:0001583	missense	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70679687G>A	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1189G>A	10.37:g.70679687G>A	ENSP00000362687:p.Glu397Lys					DDX50_ENST00000466265.1_3'UTR	p.E397K	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			8	1296	+			397			Helicase C-terminal.		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	c.1189G>A	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	G	33	5.210784	0.95069	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.04758	3.56	4.4	4.4	0.53042	Helicase, C-terminal (1);	0.045665	0.85682	D	0.000000	T	0.08492	0.0211	N	0.21508	0.67	0.58432	D	0.999997	P	0.51933	0.949	P	0.52957	0.714	T	0.37291	-0.9712	10	0.46703	T	0.11	-10.8147	17.3516	0.87326	0.0:0.0:1.0:0.0	.	397	Q9BQ39	DDX50_HUMAN	K	397	ENSP00000362687:E397K	ENSP00000362687:E397K	E	+	1	0	DDX50	70349693	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.225000	0.95219	2.140000	0.66376	0.484000	0.47621	GAG		0.413	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		16	71	0	0	0	1	0	16	71				
NTSR1	4923	broad.mit.edu	37	20	61391477	61391477	+	Missense_Mutation	SNP	G	G	A	rs377711186		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr20:61391477G>A	ENST00000370501.3	+	4	1486	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	372					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.R372L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCCAACTTCCGCCACATCTTC	0.587																																					GBM(37;400 780 6403 19663 35669)	ENST00000370501.3																			1	Substitution - Missense(1)	p.R372L(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(1114-1116)cGc>cAc		neurotensin receptor 1 (high affinity)							199.0	162.0	175.0					20																	61391477		2203	4300	6503	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61391477G>A		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.1115G>A	20.37:g.61391477G>A	ENSP00000359532:p.Arg372His					NTSR1_ENST00000482259.1_3'UTR	p.R372H	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		4	1486	+	Breast(26;3.65e-08)		372					Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.1115G>A	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170305	0.94768	.	.	ENSG00000101188	ENST00000370501	T	0.58358	0.34	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.64170	0.2574	L	0.32530	0.975	0.53688	D	0.999972	D	0.89917	1.0	D	0.87578	0.998	T	0.69146	-0.5222	10	0.87932	D	0	-34.0389	17.7144	0.88332	0.0:0.0:1.0:0.0	.	372	P30989	NTR1_HUMAN	H	372	ENSP00000359532:R372H	ENSP00000359532:R372H	R	+	2	0	NTSR1	60861922	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.365000	0.97139	2.153000	0.67306	0.650000	0.86243	CGC		0.587	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			6	113	0	0	0	1	0	6	113				
VIT	5212	broad.mit.edu	37	2	37035644	37035644	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:37035644G>A	ENST00000389975.3	+	14	1676	c.1374G>A	c.(1372-1374)tcG>tcA	p.S458S	VIT_ENST00000379241.3_Silent_p.S436S|VIT_ENST00000497382.1_Silent_p.S127S|VIT_ENST00000379242.3_Silent_p.S473S|VIT_ENST00000404084.1_Silent_p.S410S|VIT_ENST00000401530.1_Silent_p.S437S	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	458	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GCTTCTACTCGCTCCACGTGC	0.597																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1417-1419)tcG>tcA		vitrin							36.0	32.0	33.0					2																	37035644		2203	4300	6503	SO:0001819	synonymous_variant	5212					proteinaceous extracellular matrix		g.chr2:37035644G>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1374G>A	2.37:g.37035644G>A						VIT_ENST00000379241.3_Silent_p.S436S|VIT_ENST00000404084.1_Silent_p.S410S|VIT_ENST00000389975.3_Silent_p.S458S|VIT_ENST00000401530.1_Silent_p.S437S|VIT_ENST00000497382.1_Silent_p.S127S	p.S473S	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			15	1721	+		all_hematologic(82;0.248)	458			VWFA 1.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Silent	SNP	ENST00000389975.3	37	c.1419G>A	CCDS54347.1																																																																																				0.597	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				11	15	0	0	0	1	0	11	15				
OSBPL5	114879	broad.mit.edu	37	11	3122887	3122887	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:3122887G>A	ENST00000263650.7	-	13	1627	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	OSBPL5_ENST00000389989.3_Missense_Mutation_p.R422W|OSBPL5_ENST00000348039.5_Missense_Mutation_p.R422W|OSBPL5_ENST00000542243.1_Missense_Mutation_p.R121W|OSBPL5_ENST00000525498.1_Missense_Mutation_p.R401W	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	490					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCGTCCTTCCGGTTGCTGACG	0.632																																						ENST00000263650.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1468-1470)Cgg>Tgg		oxysterol binding protein-like 5							67.0	58.0	61.0					11																	3122887		2202	4298	6500	SO:0001583	missense	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3122887G>A	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1468C>T	11.37:g.3122887G>A	ENSP00000263650:p.Arg490Trp					OSBPL5_ENST00000348039.5_Missense_Mutation_p.R422W|OSBPL5_ENST00000542243.1_Missense_Mutation_p.R121W|OSBPL5_ENST00000389989.3_Missense_Mutation_p.R422W|OSBPL5_ENST00000525498.1_Missense_Mutation_p.R401W	p.R490W	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	13	1627	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	490					A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	ENST00000263650.7	37	c.1468C>T	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728011	0.48833	.	.	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000534454;ENST00000525498;ENST00000542243;ENST00000348039;ENST00000357352	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	4.16	0.686	0.18015	.	0.070853	0.53938	D	0.000053	T	0.63546	0.2520	H	0.95224	3.64	0.54753	D	0.999982	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;1.0;1.0;0.998	T	0.73238	-0.4046	10	0.87932	D	0	-8.4015	12.2365	0.54518	0.0:0.0:0.4426:0.5574	.	401;451;422;490	B4DVB0;E7EP03;Q8N596;Q9H0X9	.;.;.;OSBL5_HUMAN	W	490;422;43;401;121;422;109	ENSP00000263650:R490W;ENSP00000374639:R422W;ENSP00000431412:R43W;ENSP00000433342:R401W;ENSP00000441551:R121W;ENSP00000302872:R422W	ENSP00000263650:R490W	R	-	1	2	OSBPL5	3079463	0.998000	0.40836	0.905000	0.35620	0.258000	0.26162	0.852000	0.27764	0.340000	0.23745	0.555000	0.69702	CGG		0.632	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			10	22	0	0	0	1	0	10	22				
CCDC178	374864	broad.mit.edu	37	18	30804860	30804860	+	Missense_Mutation	SNP	C	C	T	rs112779048	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr18:30804860C>T	ENST00000383096.3	-	17	1879	c.1697G>A	c.(1696-1698)cGg>cAg	p.R566Q	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000583930.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000579947.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000406524.2_Missense_Mutation_p.R566Q|CCDC178_ENST00000403303.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000300227.8_Missense_Mutation_p.R566Q			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	566																	AAGCTCTTTCCGCTCAAGTGC	0.358																																						ENST00000383096.3																			0											c.(1696-1698)cGg>cAg		coiled-coil domain containing 178		C	GLN/ARG,GLN/ARG	0,4404		0,0,2202	82.0	76.0	78.0		1697,1697	-4.8	0.0	18	dbSNP_132	78	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	C18orf34	NM_001105528.1,NM_198995.2	43,43	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	566/868,566/830	30804860	1,13001	2202	4299	6501	SO:0001583	missense	374864							g.chr18:30804860C>T	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1697G>A	18.37:g.30804860C>T	ENSP00000372576:p.Arg566Gln					CCDC178_ENST00000402325.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000403303.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000406524.2_Missense_Mutation_p.R566Q|CCDC178_ENST00000579947.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000300227.8_Missense_Mutation_p.R566Q|CCDC178_ENST00000583930.1_Missense_Mutation_p.R566Q|CCDC178_ENST00000579916.1_Intron	p.R566Q							17	1879	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.1697G>A	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	8.848	0.943916	0.18281	0.0	1.16E-4	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.15603	2.46;2.46;2.42;2.46;2.41	4.48	-4.81	0.03180	.	.	.	.	.	T	0.14313	0.0346	L	0.40543	1.245	0.09310	N	1	D;P;D;D;D	0.59767	0.986;0.953;0.986;0.986;0.986	P;P;P;P;P	0.50590	0.645;0.521;0.645;0.509;0.509	T	0.11446	-1.0587	9	0.10377	T	0.69	-1.1569	7.2143	0.25951	0.1349:0.2403:0.0:0.6248	.	566;566;566;566;566	F8W7A7;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	Q	566	ENSP00000385591:R566Q;ENSP00000372576:R566Q;ENSP00000300227:R566Q;ENSP00000385867:R566Q;ENSP00000385234:R566Q	ENSP00000300227:R566Q	R	-	2	0	C18orf34	29058858	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	-1.389000	0.02530	-1.139000	0.02881	-0.157000	0.13467	CGG		0.358	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		18	21	0	0	0	1	0	18	21				
SH3D19	152503	broad.mit.edu	37	4	152053535	152053535	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:152053535C>T	ENST00000409252.2	-	17	2626	c.1919G>A	c.(1918-1920)aGc>aAc	p.S640N	SH3D19_ENST00000427414.2_Splice_Site_p.S581N|SH3D19_ENST00000424281.1_Splice_Site_p.S581N|SH3D19_ENST00000514152.1_Splice_Site_p.S617N|SH3D19_ENST00000304527.4_Splice_Site_p.S640N|SH3D19_ENST00000409598.4_Splice_Site_p.S617N|SH3D19_ENST00000455740.1_Splice_Site_p.S617N			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	640					cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TACCTTTGTGCCTACATTAAA	0.408																																						ENST00000409598.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20						c.e17-1		SH3 domain containing 19							102.0	88.0	93.0					4																	152053535		2203	4300	6503	SO:0001630	splice_region_variant	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152053535C>T	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.1919-1G>A	4.37:g.152053535C>T						SH3D19_ENST00000455740.1_Splice_Site_p.S617_splice|SH3D19_ENST00000424281.1_Splice_Site_p.S581_splice|SH3D19_ENST00000427414.2_Splice_Site_p.S581_splice|SH3D19_ENST00000304527.4_Splice_Site_p.S640_splice|SH3D19_ENST00000409252.2_Splice_Site_p.S640_splice|SH3D19_ENST00000514152.1_Splice_Site_p.S617_splice	p.S617_splice			Q5HYK7	SH319_HUMAN			17	3017	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	640			SH3 3.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Splice_Site	SNP	ENST00000409252.2	37	c.1849_splice	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740784	0.49151	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.70399	-0.48;0.13;-0.48;-0.47;-0.47;0.13;-0.48	5.07	4.23	0.50019	.	1.129920	0.06599	N	0.753523	T	0.70859	0.3272	M	0.65975	2.015	0.36514	D	0.869758	B;B;B;B	0.25609	0.027;0.074;0.13;0.083	B;B;B;B	0.25884	0.027;0.022;0.064;0.025	T	0.63079	-0.6717	10	0.42905	T	0.14	.	10.9306	0.47215	0.0:0.9142:0.0:0.0858	.	640;617;581;395	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	N	617;640;617;581;581;640;617	ENSP00000387030:S617N;ENSP00000302913:S640N;ENSP00000416708:S617N;ENSP00000404542:S581N;ENSP00000415694:S581N;ENSP00000386848:S640N;ENSP00000423449:S617N	ENSP00000302913:S640N	S	-	2	0	SH3D19	152272985	0.996000	0.38824	0.998000	0.56505	0.993000	0.82548	0.474000	0.22148	1.370000	0.46153	0.655000	0.94253	AGC		0.408	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555	Missense_Mutation	3	25	0	0	0	1	0	3	25				
MCM6	4175	broad.mit.edu	37	2	136605708	136605708	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:136605708G>T	ENST00000264156.2	-	14	2028	c.1968C>A	c.(1966-1968)atC>atA	p.I656I	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	656					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		CCACACGGATGATTGATTTAT	0.393																																					Ovarian(196;141 2104 8848 24991 25939)	ENST00000264156.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(1966-1968)atC>atA		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						166.0	137.0	147.0					2																	136605708		2203	4300	6503	SO:0001819	synonymous_variant	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136605708G>T		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1968C>A	2.37:g.136605708G>T						MCM6_ENST00000492091.1_5'UTR	p.I656I	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	14	2028	-			656					B2R6H2|Q13504|Q99859	Silent	SNP	ENST00000264156.2	37	c.1968C>A	CCDS2179.1																																																																																				0.393	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		5	25	1	0	0.000602214	1	0.000612727	5	25				
SEMA3B	7869	broad.mit.edu	37	3	50312859	50312859	+	RNA	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:50312859G>A	ENST00000418948.1	+	0	1852							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGACGGGGTCGCGTGCACGCG	0.716																																						ENST00000418948.1																			0				central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6								sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B							9.0	12.0	11.0					3																	50312859		1941	4108	6049			7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50312859G>A	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50312859G>A										Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	0	1852	+								Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	RNA	SNP	ENST00000418948.1	37			.	.	.	.	.	.	.	.	.	.	G	14.01	2.407046	0.42715	.	.	ENSG00000012171	ENST00000316347	.	.	.	5.04	1.19	0.21007	.	0.576827	0.19152	N	0.121404	T	0.32823	0.0842	.	.	.	.	.	.	B;B;B;B	0.21147	0.002;0.052;0.002;0.003	B;B;B;B	0.24394	0.002;0.053;0.002;0.009	T	0.28235	-1.0050	7	0.31617	T	0.26	.	7.8419	0.29403	0.4384:0.0:0.5616:0.0	.	539;289;539;540	Q13214-2;Q59FY7;F5H2H7;Q13214	.;.;.;SEM3B_HUMAN	T	539	.	ENSP00000446262:A539T	A	+	1	0	SEMA3B	50287863	0.000000	0.05858	0.002000	0.10522	0.991000	0.79684	-1.129000	0.03244	-0.056000	0.13221	0.462000	0.41574	GCG		0.716	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		5	12	0	0	0	1	0	5	12				
ZBTB2	57621	broad.mit.edu	37	6	151686671	151686671	+	Silent	SNP	G	G	A	rs377600897		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr6:151686671G>A	ENST00000325144.4	-	3	1670	c.1530C>T	c.(1528-1530)acC>acT	p.T510T		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CTAGTAAGACGGTTTCTTGTT	0.448																																						ENST00000325144.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12						c.(1528-1530)acC>acT		zinc finger and BTB domain containing 2		G		0,4406		0,0,2203	115.0	111.0	113.0		1530	-8.8	0.6	6		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZBTB2	NM_020861.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		510/515	151686671	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151686671G>A	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.1530C>T	6.37:g.151686671G>A							p.T510T	NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	1670	-			510					A8K7C7|Q5SZ81|Q9P245	Silent	SNP	ENST00000325144.4	37	c.1530C>T	CCDS5231.1																																																																																				0.448	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		25	60	0	0	0	1	0	25	60				
GP9	2815	broad.mit.edu	37	3	128780917	128780917	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:128780917G>A	ENST00000307395.4	+	3	557	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	112	LRRCT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CTGCAGGTCCGCTGTGCCAGC	0.706																																						ENST00000307395.4																			0				NS(1)|central_nervous_system(1)|lung(4)	6						c.(334-336)cGc>cAc		glycoprotein IX (platelet)	Quinine(DB00468)						12.0	13.0	12.0					3																	128780917		2190	4276	6466	SO:0001583	missense	2815				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding	g.chr3:128780917G>A		CCDS3055.1	3q21.3	2014-09-17				ENSG00000169704		"""CD molecules"""	4444	protein-coding gene	gene with protein product		173515				2253772	Standard	XM_005247374		Approved	CD42a, GPIX	uc003elm.2	P14770		ENST00000307395.4:c.335G>A	3.37:g.128780917G>A	ENSP00000303942:p.Arg112His						p.R112H	NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN			3	557	+			112			LRRCT.		Q14445|Q8N1D1|Q92525	Missense_Mutation	SNP	ENST00000307395.4	37	c.335G>A	CCDS3055.1	.	.	.	.	.	.	.	.	.	.	G	8.900	0.956218	0.18507	.	.	ENSG00000169704	ENST00000307395	D	0.90133	-2.62	4.17	-4.43	0.03568	Cysteine-rich flanking region, C-terminal (1);	0.614078	0.13039	N	0.418665	D	0.85248	0.5653	M	0.82823	2.61	0.09310	N	1	B	0.28439	0.212	B	0.17433	0.018	T	0.72418	-0.4300	10	0.41790	T	0.15	-5.6374	1.0797	0.01640	0.4468:0.1227:0.1829:0.2476	.	112	P14770	GPIX_HUMAN	H	112	ENSP00000303942:R112H	ENSP00000303942:R112H	R	+	2	0	GP9	130263607	0.000000	0.05858	0.002000	0.10522	0.109000	0.19521	-1.039000	0.03550	-0.948000	0.03668	0.462000	0.41574	CGC		0.706	GP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358428.1			3	13	0	0	0	1	0	3	13				
KMT2D	8085	broad.mit.edu	37	12	49445333	49445333	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:49445333C>T	ENST00000301067.7	-	10	2132	c.2133G>A	c.(2131-2133)ccG>ccA	p.P711P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	711	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	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)										GCGAGTCCTCCGGTGGTGGGG	0.677																																						ENST00000301067.7																			0											c.(2131-2133)ccG>ccA		lysine (K)-specific methyltransferase 2D							44.0	52.0	49.0					12																	49445333		2039	4188	6227	SO:0001819	synonymous_variant	8085							g.chr12:49445333C>T	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.2133G>A	12.37:g.49445333C>T							p.P711P	NM_003482.3	NP_003473.3					10	2132	-								O14687	Silent	SNP	ENST00000301067.7	37	c.2133G>A	CCDS44873.1																																																																																				0.677	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			22	50	0	0	0	1	0	22	50				
PCDHGA2	56113	broad.mit.edu	37	5	140719302	140719302	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:140719302C>T	ENST00000394576.2	+	1	764	c.764C>T	c.(763-765)aCg>aTg	p.T255M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	255	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGAGAATACGCTCGTGGGC	0.547																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(763-765)aCg>aTg									72.0	77.0	75.0					5																	140719302		2203	4299	6502	SO:0001583	missense	0							g.chr5:140719302C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.764C>T	5.37:g.140719302C>T	ENSP00000378077:p.Thr255Met					PCDHGA1_ENST00000517417.1_Intron	p.T255M	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	764	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.764C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	3.038	-0.198138	0.06219	.	.	ENSG00000081853	ENST00000394576	T	0.01804	4.63	5.26	-3.98	0.04082	Cadherin (4);Cadherin-like (1);	1.869310	0.03197	N	0.174228	T	0.01940	0.0061	L	0.33710	1.025	0.09310	N	1	B;B	0.16166	0.012;0.016	B;B	0.20184	0.016;0.028	T	0.47222	-0.9134	10	0.51188	T	0.08	.	6.4089	0.21680	0.1115:0.359:0.0:0.5294	.	255;255	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	M	255	ENSP00000378077:T255M	ENSP00000378077:T255M	T	+	2	0	PCDHGA2	140699486	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.545000	0.06069	-0.895000	0.03920	-0.793000	0.03317	ACG		0.547	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		13	91	0	0	0	1	0	13	91				
INHA	3623	broad.mit.edu	37	2	220439863	220439863	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:220439863G>A	ENST00000243786.2	+	2	896	c.716G>A	c.(715-717)tGg>tAg	p.W239*		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	239					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGATGTCCTGGCCTTGGTCT	0.657																																						ENST00000243786.2																			0				large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(715-717)tGg>tAg		inhibin, alpha							51.0	55.0	54.0					2																	220439863		2203	4300	6503	SO:0001587	stop_gained	3623				cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity	g.chr2:220439863G>A		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.716G>A	2.37:g.220439863G>A	ENSP00000243786:p.Trp239*						p.W239*	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	896	+		Renal(207;0.0183)	239					A8K8H5	Nonsense_Mutation	SNP	ENST00000243786.2	37	c.716G>A	CCDS2444.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563888	0.86335	.	.	ENSG00000123999	ENST00000243786	.	.	.	5.48	2.7	0.31948	.	0.694155	0.13819	N	0.360564	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.3149	5.3078	0.15813	0.1563:0.0:0.5373:0.3064	.	.	.	.	X	239	.	.	W	+	2	0	INHA	220148107	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	3.243000	0.51392	0.674000	0.31244	-0.310000	0.09108	TGG		0.657	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1			18	45	0	0	0	1	0	18	45				
HIC1	3090	broad.mit.edu	37	17	1961548	1961548	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:1961548G>A	ENST00000322941.3	+	2	1621	c.1621G>A	c.(1621-1623)Ggg>Agg	p.G541R	SMG6_ENST00000573166.1_5'Flank|HIC1_ENST00000399849.3_Missense_Mutation_p.G522R	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	541					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		CACCATCTGCGGGAAGAAGTT	0.682																																						ENST00000399849.2																			0				large_intestine(1)|lung(1)|prostate(1)	3						c.(1564-1566)Ggg>Agg		hypermethylated in cancer 1							21.0	23.0	22.0					17																	1961548		2198	4295	6493	SO:0001583	missense	3090				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:1961548G>A		CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.1621G>A	17.37:g.1961548G>A	ENSP00000314080:p.Gly541Arg					HIC1_ENST00000322941.3_Missense_Mutation_p.G541R	p.G522R	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN		READ - Rectum adenocarcinoma(1115;0.236)	2	1724	+			541					D3DTI4	Missense_Mutation	SNP	ENST00000322941.3	37	c.1564G>A	CCDS42229.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347433	0.82022	.	.	ENSG00000177374	ENST00000399849;ENST00000322941	T;T	0.03524	3.9;3.9	3.97	3.97	0.46021	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18593	0.0446	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01330	-1.1383	9	0.87932	D	0	.	16.1856	0.81948	0.0:0.0:1.0:0.0	.	541	Q14526	HIC1_HUMAN	R	522;541	ENSP00000382742:G522R;ENSP00000314080:G541R	ENSP00000314080:G541R	G	+	1	0	HIC1	1908298	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.307000	0.96226	2.226000	0.72624	0.511000	0.50034	GGG		0.682	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438878.1	NM_006497		6	13	0	0	0	1	0	6	13				
POLR2B	5431	broad.mit.edu	37	4	57876617	57876617	+	Silent	SNP	A	A	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:57876617A>C	ENST00000381227.1	+	12	1908	c.1495A>C	c.(1495-1497)Aga>Cga	p.R499R	POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000431623.2_Silent_p.R424R|POLR2B_ENST00000314595.5_Silent_p.R499R|POLR2B_ENST00000441246.2_Silent_p.R492R			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	499					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AGCAAAACCAAGACAGTTGCA	0.428																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(1495-1497)Aga>Cga		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							127.0	128.0	128.0					4																	57876617		2203	4300	6503	SO:0001819	synonymous_variant	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57876617A>C		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1495A>C	4.37:g.57876617A>C						POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000314595.5_Silent_p.R499R|POLR2B_ENST00000431623.2_Silent_p.R424R|POLR2B_ENST00000441246.2_Silent_p.R492R	p.R499R			P30876	RPB2_HUMAN			12	1908	+	Glioma(25;0.08)|all_neural(26;0.181)		499					A8K1A8|Q8IZ61	Silent	SNP	ENST00000381227.1	37	c.1495A>C	CCDS3511.1																																																																																				0.428	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		32	58	0	0	0	1	0	32	58				
USP6NL	9712	broad.mit.edu	37	10	11505706	11505706	+	Silent	SNP	C	C	T	rs577831766		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:11505706C>T	ENST00000609104.1	-	15	1615	c.1221G>A	c.(1219-1221)gcG>gcA	p.A407A	USP6NL_ENST00000277575.5_Silent_p.A424A|USP6NL_ENST00000379237.2_Silent_p.A430A	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	407					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TCCTGTGGGGCGCCCCGCTCT	0.692													C|||	1	0.000199681	0.0	0.0014	5008	,	,		12444	0.0		0.0	False		,,,				2504	0.0					ENST00000379237.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1219-1221)gcG>gcA		USP6 N-terminal like							25.0	27.0	27.0					10																	11505706		1919	4107	6026	SO:0001819	synonymous_variant	9712					intracellular	Rab GTPase activator activity	g.chr10:11505706C>T	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1221G>A	10.37:g.11505706C>T						USP6NL_ENST00000277575.5_Silent_p.A424A	p.A407A	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN			15	1615	-			407					A8KA79|Q15400|Q5VV10|Q7L0K9	Silent	SNP	ENST00000609104.1	37	c.1221G>A	CCDS53492.1																																																																																				0.692	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		7	25	0	0	0	1	0	7	25				
PABPC3	5042	broad.mit.edu	37	13	25672097	25672097	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr13:25672097A>G	ENST00000281589.3	+	1	1798	c.1761A>G	c.(1759-1761)gaA>gaG	p.E587E		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	587	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ATAATTCAGAACTTCTTTATA	0.448																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1759-1761)gaA>gaG		poly(A) binding protein, cytoplasmic 3							126.0	124.0	125.0					13																	25672097		2203	4300	6503	SO:0001819	synonymous_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25672097A>G	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1761A>G	13.37:g.25672097A>G							p.E587E	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1798	+		Lung SC(185;0.0225)|Breast(139;0.0602)	587			PABC.		Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	c.1761A>G	CCDS9311.1																																																																																				0.448	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		6	109	0	0	0	1	0	6	109				
DDX60L	91351	broad.mit.edu	37	4	169340497	169340497	+	Missense_Mutation	SNP	G	G	A	rs570199575		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:169340497G>A	ENST00000511577.1	-	19	2813	c.2566C>T	c.(2566-2568)Cgc>Tgc	p.R856C	DDX60L_ENST00000260184.7_Missense_Mutation_p.R856C|DDX60L_ENST00000505890.1_Missense_Mutation_p.R856C			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	856	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CATTTTTGGCGATGAGGAGCA	0.363																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2566-2568)Cgc>Tgc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							60.0	60.0	60.0					4																	169340497		2192	4300	6492	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169340497G>A	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2566C>T	4.37:g.169340497G>A	ENSP00000422423:p.Arg856Cys					DDX60L_ENST00000505890.1_Missense_Mutation_p.R856C|DDX60L_ENST00000260184.7_Missense_Mutation_p.R856C	p.R856C			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	19	2813	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	856			Helicase ATP-binding.		Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.2566C>T		.	.	.	.	.	.	.	.	.	.	G	12.73	2.026632	0.35797	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890	T;T;T	0.72167	-0.63;-0.63;2.4	3.49	-0.182	0.13287	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.393779	0.18245	N	0.147129	T	0.58878	0.2153	M	0.64997	1.995	0.23023	N	0.998413	B;B	0.31227	0.103;0.314	B;B	0.28139	0.058;0.086	T	0.48103	-0.9064	10	0.39692	T	0.17	.	4.2202	0.10554	0.2143:0.0:0.4977:0.288	.	856;856	D6R906;Q5H9U9	.;DDX6L_HUMAN	C	856	ENSP00000260184:R856C;ENSP00000422423:R856C;ENSP00000422202:R856C	ENSP00000260184:R856C	R	-	1	0	DDX60L	169577072	0.136000	0.22515	0.001000	0.08648	0.675000	0.39556	0.338000	0.19858	-0.419000	0.07439	0.467000	0.42956	CGC		0.363	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		5	2	0	0	0	1	0	5	2				
AGAP6	414189	broad.mit.edu	37	10	51748529	51748529	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:51748529C>T	ENST00000374056.4	+	1	452	c.54C>T	c.(52-54)gaC>gaT	p.D18D	AGAP6_ENST00000412531.3_Silent_p.D18D			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	18					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						TCGAGTTTGACCAGCAGCAGG	0.607																																						ENST00000374056.4																			0				NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(52-54)gaC>gaT		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6																																				SO:0001819	synonymous_variant	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51748529C>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.54C>T	10.37:g.51748529C>T						AGAP6_ENST00000412531.3_Silent_p.D18D	p.D18D			C9IYN2	C9IYN2_HUMAN			1	452	+			18						Silent	SNP	ENST00000374056.4	37	c.54C>T																																																																																					0.607	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		15	17	0	0	0	1	0	15	17				
SPHK2	56848	broad.mit.edu	37	19	49132872	49132872	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:49132872G>A	ENST00000245222.4	+	7	2173	c.1807G>A	c.(1807-1809)Gcc>Acc	p.A603T	SPHK2_ENST00000599029.1_Missense_Mutation_p.A567T|SPHK2_ENST00000599748.1_Missense_Mutation_p.A567T|SPHK2_ENST00000340932.3_Missense_Mutation_p.A565T|SPHK2_ENST00000443164.1_Missense_Mutation_p.A665T|SPHK2_ENST00000600537.1_Missense_Mutation_p.A544T|SPHK2_ENST00000598088.1_Missense_Mutation_p.A603T	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	603					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GCTGGGCTACGCCGCGGCCCG	0.682																																						ENST00000443164.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(1993-1995)Gcc>Acc		sphingosine kinase 2							18.0	16.0	16.0					19																	49132872		2198	4294	6492	SO:0001583	missense	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49132872G>A	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1807G>A	19.37:g.49132872G>A	ENSP00000245222:p.Ala603Thr					SPHK2_ENST00000245222.4_Missense_Mutation_p.A603T|SPHK2_ENST00000599748.1_Missense_Mutation_p.A567T|SPHK2_ENST00000340932.3_Missense_Mutation_p.A565T|SPHK2_ENST00000600537.1_Missense_Mutation_p.A544T|SPHK2_ENST00000598088.1_Missense_Mutation_p.A603T|SPHK2_ENST00000599029.1_Missense_Mutation_p.A567T	p.A665T			Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	5	2698	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	603					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	c.1993G>A	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523383	0.64747	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	T;T;T	0.14266	2.52;2.52;2.52	4.78	4.78	0.61160	.	0.202406	0.43110	D	0.000620	T	0.07324	0.0185	N	0.14661	0.345	0.31224	N	0.697141	D;P;D	0.57571	0.98;0.87;0.964	B;B;B	0.39217	0.294;0.226;0.175	T	0.04930	-1.0917	10	0.49607	T	0.09	-34.4714	9.1479	0.36944	0.0983:0.0:0.9017:0.0	.	544;665;603	B4DU87;A0T4C8;Q9NRA0	.;.;SPHK2_HUMAN	T	603;576;565;665	ENSP00000245222:A603T;ENSP00000341091:A565T;ENSP00000413369:A665T	ENSP00000245222:A603T	A	+	1	0	SPHK2	53824684	0.999000	0.42202	0.843000	0.33291	0.992000	0.81027	3.614000	0.54160	2.653000	0.90120	0.555000	0.69702	GCC		0.682	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			3	7	0	0	0	1	0	3	7				
LIMD2	80774	broad.mit.edu	37	17	61776417	61776417	+	Missense_Mutation	SNP	C	C	T	rs199625729		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:61776417C>T	ENST00000259006.3	-	3	213	c.55G>A	c.(55-57)Ggc>Agc	p.G19S	LIMD2_ENST00000582055.1_5'UTR|LIMD2_ENST00000578402.1_Missense_Mutation_p.G19S|LIMD2_ENST00000578993.1_Missense_Mutation_p.G19S|LIMD2_ENST00000578061.1_Missense_Mutation_p.G19S|LIMD2_ENST00000583211.1_5'UTR	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	19							zinc ion binding (GO:0008270)			kidney(1)|lung(2)	3						CTGCTGCCGCCGCCTTTGGCG	0.736													C|||	1	0.000199681	0.0	0.0	5008	,	,		10980	0.0		0.001	False		,,,				2504	0.0					ENST00000259006.3																			0				kidney(1)|lung(2)	3						c.(55-57)Ggc>Agc		LIM domain containing 2		C	SER/GLY	1,4277		0,1,2138	9.0	12.0	11.0		55	-4.9	0.1	17		11	12,8396		0,12,4192	no	missense	LIMD2	NM_030576.3	56	0,13,6330	TT,TC,CC		0.1427,0.0234,0.1025	benign	19/128	61776417	13,12673	2139	4204	6343	SO:0001583	missense	80774						zinc ion binding	g.chr17:61776417C>T	AK092301	CCDS11641.1	17q23.3	2006-02-03				ENSG00000136490			28142	protein-coding gene	gene with protein product						12477932	Standard	NM_030576		Approved	MGC10986	uc002jbj.4	Q9BT23		ENST00000259006.3:c.55G>A	17.37:g.61776417C>T	ENSP00000259006:p.Gly19Ser					LIMD2_ENST00000578993.1_Missense_Mutation_p.G19S|LIMD2_ENST00000578402.1_Missense_Mutation_p.G19S|LIMD2_ENST00000578061.1_Missense_Mutation_p.G19S|LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000582055.1_5'UTR	p.G19S	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN			3	213	-			19					D3DU16|Q96S91	Missense_Mutation	SNP	ENST00000259006.3	37	c.55G>A	CCDS11641.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.041	-1.283506	0.01398	2.34E-4	0.001427	ENSG00000136490	ENST00000259006	T	0.75367	-0.93	4.33	-4.88	0.03113	.	0.543405	0.17516	N	0.171426	T	0.37571	0.1008	N	0.01874	-0.695	0.49915	D	0.999837	B	0.06786	0.001	B	0.01281	0.0	T	0.42413	-0.9453	10	0.02654	T	1	-15.4788	11.5615	0.50780	0.0:0.2608:0.0:0.7392	.	19	Q9BT23	LIMD2_HUMAN	S	19	ENSP00000259006:G19S	ENSP00000259006:G19S	G	-	1	0	LIMD2	59130149	0.000000	0.05858	0.073000	0.20177	0.373000	0.29922	-0.162000	0.10012	-1.171000	0.02765	-0.448000	0.05591	GGC		0.736	LIMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443877.1	NM_030576		3	16	0	0	0	1	0	3	16				
AKAP12	9590	broad.mit.edu	37	6	151673127	151673127	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr6:151673127G>A	ENST00000253332.1	+	3	3790	c.3601G>A	c.(3601-3603)Gca>Aca	p.A1201T	AKAP12_ENST00000359755.5_Missense_Mutation_p.A1096T|AKAP12_ENST00000402676.2_Missense_Mutation_p.A1201T|AKAP12_ENST00000354675.6_Missense_Mutation_p.A1103T			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1201					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAATGAGGTCGCATCTGGTAC	0.532																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(3601-3603)Gca>Aca		A kinase (PRKA) anchor protein 12							76.0	74.0	74.0					6																	151673127		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151673127G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3601G>A	6.37:g.151673127G>A	ENSP00000253332:p.Ala1201Thr					AKAP12_ENST00000354675.6_Missense_Mutation_p.A1103T|AKAP12_ENST00000253332.1_Missense_Mutation_p.A1201T|AKAP12_ENST00000359755.5_Missense_Mutation_p.A1096T	p.A1201T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	3841	+		Ovarian(120;0.125)	1201					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.3601G>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626944	0.66901	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.10573	2.86;2.86;2.89;2.89	5.08	3.27	0.37495	.	0.701912	0.11757	N	0.532518	T	0.02012	0.0063	L	0.34521	1.04	0.09310	N	1	B;B;B	0.32203	0.36;0.36;0.246	B;B;B	0.24155	0.051;0.051;0.023	T	0.46693	-0.9173	10	0.16896	T	0.51	.	7.5948	0.28041	0.1541:0.1464:0.6995:0.0	.	1096;1103;1201	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	T	1201;1201;1103;1096	ENSP00000384537:A1201T;ENSP00000253332:A1201T;ENSP00000346702:A1103T;ENSP00000352794:A1096T	ENSP00000253332:A1201T	A	+	1	0	AKAP12	151714820	0.007000	0.16637	0.000000	0.03702	0.358000	0.29455	1.513000	0.35823	0.518000	0.28383	0.455000	0.32223	GCA		0.532	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			5	75	0	0	0	1	0	5	75				
REC8	9985	broad.mit.edu	37	14	24642164	24642164	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:24642164C>T	ENST00000311457.3	+	4	781	c.182C>T	c.(181-183)cCg>cTg	p.P61L	REC8_ENST00000559919.1_Missense_Mutation_p.P61L			O95072	REC8_HUMAN	REC8 meiotic recombination protein	61					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CCCGGCCTGCCGCGGCCCCGC	0.602																																					NSCLC(139;1764 2537 12868 49041)	ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(181-183)cCg>cTg		REC8 meiotic recombination protein							55.0	65.0	61.0					14																	24642164		1972	4129	6101	SO:0001583	missense	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24642164C>T	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"""REC8-like 1 (yeast)"", ""REC8 homolog (yeast)"""	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.182C>T	14.37:g.24642164C>T	ENSP00000308699:p.Pro61Leu					REC8_ENST00000559919.1_Missense_Mutation_p.P61L	p.P61L			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	4	781	+			61					A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Missense_Mutation	SNP	ENST00000311457.3	37	c.182C>T	CCDS41932.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704779	0.88924	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	T	0.35973	1.28	5.39	3.56	0.40772	Rad21/Rec8-like protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61527	0.2354	M	0.88775	2.98	0.58432	D	0.999996	D;D	0.89917	0.996;1.0	D;D	0.85130	0.987;0.997	T	0.63193	-0.6692	10	0.87932	D	0	-22.4585	7.8783	0.29608	0.1596:0.7572:0.0:0.0832	.	61;61	O95072-2;O95072	.;REC8_HUMAN	L	61	ENSP00000308699:P61L	ENSP00000308699:P61L	P	+	2	0	REC8	23712004	1.000000	0.71417	0.926000	0.36857	0.970000	0.65996	5.897000	0.69831	0.628000	0.30357	0.561000	0.74099	CCG		0.602	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	NM_005132		28	48	0	0	0	1	0	28	48				
TRIM62	55223	broad.mit.edu	37	1	33625513	33625513	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:33625513G>A	ENST00000291416.5	-	3	770	c.537C>T	c.(535-537)ggC>ggT	p.G179G	TRIM62_ENST00000543586.1_Silent_p.G58G|TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	179					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				CGAAGGCCTCGCCGATAGTGG	0.657																																						ENST00000291416.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(535-537)ggC>ggT		tripartite motif containing 62							31.0	35.0	34.0					1																	33625513		2202	4300	6502	SO:0001819	synonymous_variant	55223					intracellular	zinc ion binding	g.chr1:33625513G>A	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.537C>T	1.37:g.33625513G>A						TRIM62_ENST00000485148.1_5'UTR|TRIM62_ENST00000543586.1_Silent_p.G58G	p.G179G	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN			3	770	-		Myeloproliferative disorder(586;0.0393)	179					B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Silent	SNP	ENST00000291416.5	37	c.537C>T	CCDS376.1																																																																																				0.657	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		5	28	0	0	0	1	0	5	28				
PPFIBP1	8496	broad.mit.edu	37	12	27832572	27832572	+	Splice_Site	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:27832572A>G	ENST00000318304.8	+	19	2067	c.1784A>G	c.(1783-1785)aAa>aGa	p.K595R	PPFIBP1_ENST00000228425.6_Splice_Site_p.K589R|PPFIBP1_ENST00000537927.1_Splice_Site_p.K442R|PPFIBP1_ENST00000542629.1_Splice_Site_p.K564R	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	595					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CTCTTTGGAAAGTAAGTAAAG	0.438																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.e19+1		PTPRF interacting protein, binding protein 1 (liprin beta 1)							90.0	95.0	93.0					12																	27832572		2203	4300	6503	SO:0001630	splice_region_variant	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27832572A>G	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1784+1A>G	12.37:g.27832572A>G						PPFIBP1_ENST00000542629.1_Splice_Site_p.K564_splice|PPFIBP1_ENST00000228425.6_Splice_Site_p.K589_splice|PPFIBP1_ENST00000537927.1_Splice_Site_p.K442_splice	p.K595_splice	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN			19	2067	+	Lung SC(9;0.0873)		595					O75336|Q86X70|Q9NY03|Q9ULJ0	Splice_Site	SNP	ENST00000318304.8	37	c.1784_splice	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.178814	0.38511	.	.	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	5.8	2.28	0.28536	.	0.000000	0.36338	U	0.002648	T	0.61426	0.2346	N	0.20986	0.625	0.49051	D	0.999743	B;B;B;B;B	0.09022	0.001;0.002;0.001;0.002;0.001	B;B;B;B;B	0.19946	0.027;0.003;0.002;0.009;0.005	T	0.52147	-0.8614	10	0.42905	T	0.14	-14.1126	6.8786	0.24160	0.5898:0.0:0.4102:0.0	.	442;426;595;589;564	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4	.;.;LIPB1_HUMAN;.;.	R	426;442;595;564;589	ENSP00000444304:K426R;ENSP00000445425:K442R;ENSP00000314724:K595R;ENSP00000443442:K564R;ENSP00000228425:K589R	ENSP00000228425:K589R	K	+	2	0	PPFIBP1	27723839	0.599000	0.26891	1.000000	0.80357	0.986000	0.74619	-0.045000	0.12003	0.475000	0.27415	0.533000	0.62120	AAA		0.438	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622	Missense_Mutation	9	68	0	0	0	1	0	9	68				
PKHD1L1	93035	broad.mit.edu	37	8	110412530	110412530	+	Missense_Mutation	SNP	G	G	A	rs202180175		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:110412530G>A	ENST00000378402.5	+	13	1342	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	413					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGTGATGACCGTTATGCTATT	0.368										HNSCC(38;0.096)			G|||	1	0.000199681	0.0	0.0	5008	,	,		15914	0.0		0.001	False		,,,				2504	0.0					ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(1237-1239)cGt>cAt		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1		G	HIS/ARG	1,3703		0,1,1851	187.0	176.0	180.0		1238	3.6	1.0	8		180	12,8170		0,12,4079	yes	missense	PKHD1L1	NM_177531.4	29	0,13,5930	AA,AG,GG		0.1467,0.027,0.1094	probably-damaging	413/4244	110412530	13,11873	1852	4091	5943	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110412530G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1238G>A	8.37:g.110412530G>A	ENSP00000367655:p.Arg413His	HNSCC(38;0.096)					p.R413H	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		13	1342	+			413					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.1238G>A	CCDS47911.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.68	3.871981	0.72180	2.7E-4	0.001467	ENSG00000205038	ENST00000378402	T	0.76448	-1.02	5.42	3.63	0.41609	PA14 (1);	0.162251	0.41605	N	0.000845	T	0.72692	0.3492	L	0.39020	1.185	0.32838	D	0.504912	D	0.55385	0.971	P	0.50405	0.64	T	0.77381	-0.2609	10	0.62326	D	0.03	.	7.4721	0.27355	0.2644:0.0:0.7356:0.0	.	413	Q86WI1	PKHL1_HUMAN	H	413	ENSP00000367655:R413H	ENSP00000367655:R413H	R	+	2	0	PKHD1L1	110481706	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.601000	0.54059	0.661000	0.30985	-0.253000	0.11424	CGT		0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		6	82	0	0	0	1	0	6	82				
DBH	1621	broad.mit.edu	37	9	136501639	136501639	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr9:136501639A>G	ENST00000393056.2	+	1	158	c.146A>G	c.(145-147)tAt>tGt	p.Y49C		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	49					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CCCCTCCCCTATCACATCCCC	0.642																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(145-147)tAt>tGt		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						35.0	33.0	34.0					9																	136501639		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136501639A>G	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.146A>G	9.37:g.136501639A>G	ENSP00000376776:p.Tyr49Cys						p.Y49C	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	1	158	+			49					Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.146A>G	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	A	12.27	1.886708	0.33348	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.52754	0.72;0.65	5.59	3.06	0.35304	.	0.171108	0.53938	D	0.000053	T	0.60805	0.2297	M	0.71581	2.175	0.50467	D	0.999874	D	0.64830	0.994	P	0.60012	0.867	T	0.64166	-0.6471	10	0.87932	D	0	-0.0184	10.5115	0.44864	0.7417:0.0:0.0:0.2583	.	49	P09172	DOPO_HUMAN	C	49;35;35	ENSP00000376776:Y49C;ENSP00000263611:Y35C	ENSP00000263611:Y35C	Y	+	2	0	DBH	135491460	1.000000	0.71417	0.995000	0.50966	0.003000	0.03518	4.373000	0.59537	0.930000	0.37217	0.459000	0.35465	TAT		0.642	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		4	29	0	0	0	1	0	4	29				
AXL	558	broad.mit.edu	37	19	41744449	41744449	+	Missense_Mutation	SNP	C	C	T	rs143593613		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:41744449C>T	ENST00000301178.4	+	8	1259	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	AXL_ENST00000359092.3_Missense_Mutation_p.R357W|AXL_ENST00000593513.1_Missense_Mutation_p.R89W	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	357	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCAAGAGCCCCGGGCGCCCCT	0.647																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(1069-1071)Cgg>Tgg		AXL receptor tyrosine kinase		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	25.0	28.0	27.0		1069,1069	-0.7	0.0	19	dbSNP_134	27	0,8600		0,0,4300	no	missense,missense	AXL	NM_001699.4,NM_021913.3	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	357/886,357/895	41744449	1,13005	2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41744449C>T	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1069C>T	19.37:g.41744449C>T	ENSP00000301178:p.Arg357Trp					AXL_ENST00000359092.3_Missense_Mutation_p.R357W|AXL_ENST00000593513.1_Missense_Mutation_p.R89W	p.R357W	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			8	1259	+			357			Fibronectin type-III 2.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.1069C>T	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	c	16.06	3.016344	0.54468	2.27E-4	0.0	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.58506	0.33;0.33	4.36	-0.732	0.11147	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.329934	0.28290	N	0.015894	T	0.62925	0.2468	M	0.61703	1.905	0.09310	N	1	D;D	0.76494	0.999;0.999	P;P	0.59761	0.785;0.863	T	0.56402	-0.7985	10	0.72032	D	0.01	-5.6457	7.8772	0.29601	0.3016:0.5988:0.0996:0.0	.	357;357	P30530-2;P30530	.;UFO_HUMAN	W	357	ENSP00000301178:R357W;ENSP00000351995:R357W	ENSP00000301178:R357W	R	+	1	2	AXL	46436289	0.020000	0.18652	0.004000	0.12327	0.807000	0.45602	0.604000	0.24164	-0.048000	0.13401	0.297000	0.19635	CGG		0.647	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			14	14	0	0	0	1	0	14	14				
PARD3B	117583	broad.mit.edu	37	2	206480515	206480515	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:206480515A>G	ENST00000406610.2	+	23	3803	c.3596A>G	c.(3595-3597)aAc>aGc	p.N1199S	PARD3B_ENST00000349953.3_Missense_Mutation_p.N1098S|PARD3B_ENST00000351153.1_Missense_Mutation_p.N1130S|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000358768.2_Missense_Mutation_p.N1137S	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1199					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CGGCAGAAGAACCCCATGACT	0.582																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(3595-3597)aAc>aGc		par-3 family cell polarity regulator beta							50.0	56.0	54.0					2																	206480515		1951	4133	6084	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206480515A>G	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.3596A>G	2.37:g.206480515A>G	ENSP00000385848:p.Asn1199Ser					PARD3B_ENST00000358768.2_Missense_Mutation_p.N1137S|PARD3B_ENST00000349953.3_Missense_Mutation_p.N1098S|PARD3B_ENST00000351153.1_Missense_Mutation_p.N1130S|PARD3B_ENST00000488622.1_3'UTR	p.N1199S	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	23	3803	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	1199					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.3596A>G		.	.	.	.	.	.	.	.	.	.	A	14.83	2.651958	0.47362	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.15603	2.65;2.41;2.6;2.57	5.87	4.71	0.59529	.	0.188915	0.37857	N	0.001904	T	0.14141	0.0342	L	0.44542	1.39	0.21499	N	0.999664	P;B;B;B	0.39535	0.677;0.016;0.138;0.005	B;B;B;B	0.32677	0.15;0.004;0.044;0.019	T	0.11743	-1.0575	10	0.72032	D	0.01	.	11.2025	0.48749	0.9257:0.0:0.0743:0.0	.	1199;1130;1137;1098	Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.;.	S	1199;1137;1130;1098	ENSP00000385848:N1199S;ENSP00000351618:N1137S;ENSP00000317261:N1130S;ENSP00000340280:N1098S	ENSP00000340280:N1098S	N	+	2	0	PARD3B	206188760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.678000	0.54627	1.024000	0.39682	0.528000	0.53228	AAC		0.582	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		10	41	0	0	0	1	0	10	41				
CD97	976	broad.mit.edu	37	19	14517970	14517970	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:14517970T>C	ENST00000242786.5	+	18	2385	c.2305T>C	c.(2305-2307)Tat>Cat	p.Y769H	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.Y720H|CD97_ENST00000358600.3_Missense_Mutation_p.Y676H|DDX39A_ENST00000592927.1_5'Flank	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	769					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGTGCTGACCTATGTGTTTAC	0.617																																						ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(2305-2307)Tat>Cat		CD97 molecule							169.0	137.0	148.0					19																	14517970		2203	4300	6503	SO:0001583	missense	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14517970T>C		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2305T>C	19.37:g.14517970T>C	ENSP00000242786:p.Tyr769His					CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Missense_Mutation_p.Y676H|CD97_ENST00000357355.3_Missense_Mutation_p.Y720H	p.Y769H	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			18	2385	+			769					A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	c.2305T>C	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.542744	0.45280	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.41758	0.99;0.99;0.99	5.16	4.13	0.48395	GPCR, family 2-like (1);	0.000000	0.30762	N	0.008935	T	0.69106	0.3074	M	0.92317	3.295	0.41327	D	0.987212	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.73313	-0.4022	10	0.87932	D	0	.	9.2071	0.37296	0.0:0.0881:0.0:0.9119	.	676;720;769	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	H	769;720;676;719	ENSP00000242786:Y769H;ENSP00000349918:Y720H;ENSP00000351413:Y676H	ENSP00000242786:Y769H	Y	+	1	0	CD97	14378970	1.000000	0.71417	0.142000	0.22268	0.008000	0.06430	7.320000	0.79064	0.787000	0.33731	0.533000	0.62120	TAT		0.617	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		9	86	0	0	0	1	0	9	86				
SPOP	8405	broad.mit.edu	37	17	47677762	47677762	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:47677762C>T	ENST00000393328.2	-	11	1468	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	SPOP_ENST00000504102.1_Missense_Mutation_p.R368H|SPOP_ENST00000503676.1_Missense_Mutation_p.R368H|SPOP_ENST00000347630.2_Missense_Mutation_p.R368H|SPOP_ENST00000393331.3_Missense_Mutation_p.R368H	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	368					glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGGCGTTTGCGTGGGGGTCC	0.542										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(1102-1104)cGc>cAc		speckle-type POZ protein							189.0	196.0	194.0					17																	47677762		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47677762C>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.1103G>A	17.37:g.47677762C>T	ENSP00000377001:p.Arg368His	Prostate(2;0.17)				SPOP_ENST00000393328.2_Missense_Mutation_p.R368H|SPOP_ENST00000347630.2_Missense_Mutation_p.R368H|SPOP_ENST00000504102.1_Missense_Mutation_p.R368H|SPOP_ENST00000503676.1_Missense_Mutation_p.R368H	p.R368H	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			12	1573	-			368					B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.1103G>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323239	0.60634	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	5.65	5.65	0.86999	.	0.116138	0.64402	D	0.000003	T	0.74794	0.3763	M	0.86028	2.79	0.80722	D	1	B	0.25667	0.131	B	0.18561	0.022	T	0.71170	-0.4671	10	0.31617	T	0.26	1.2459	19.5069	0.95121	0.0:1.0:0.0:0.0	.	368	O43791	SPOP_HUMAN	H	368;368;368;368;252;368;321	ENSP00000377001:R368H;ENSP00000377004:R368H;ENSP00000240327:R368H;ENSP00000425905:R368H;ENSP00000420908:R368H	ENSP00000240327:R368H	R	-	2	0	SPOP	45032761	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.505000	0.81655	2.941000	0.99782	0.655000	0.94253	CGC		0.542	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		10	162	0	0	0	1	0	10	162				
NPNT	255743	broad.mit.edu	37	4	106858224	106858224	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:106858224C>T	ENST00000379987.2	+	4	540	c.324C>T	c.(322-324)taC>taT	p.Y108Y	NPNT_ENST00000453617.2_Silent_p.Y125Y|NPNT_ENST00000305572.8_Silent_p.Y108Y|NPNT_ENST00000513430.1_3'UTR|NPNT_ENST00000506666.1_Silent_p.Y138Y|NPNT_ENST00000514622.1_Silent_p.Y108Y|NPNT_ENST00000427316.2_Silent_p.Y138Y	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	108	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGAACACTTACGGCAGCTACA	0.448																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(322-324)taC>taT		nephronectin							113.0	95.0	101.0					4																	106858224		2203	4300	6503	SO:0001819	synonymous_variant	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106858224C>T		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.324C>T	4.37:g.106858224C>T						NPNT_ENST00000453617.2_Silent_p.Y125Y|NPNT_ENST00000427316.2_Silent_p.Y138Y|NPNT_ENST00000305572.8_Silent_p.Y108Y|NPNT_ENST00000514622.1_Silent_p.Y108Y|NPNT_ENST00000513430.1_3'UTR|NPNT_ENST00000506666.1_Silent_p.Y138Y	p.Y108Y	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	4	540	+		Hepatocellular(203;0.217)	108			EGF-like 2; calcium-binding (Potential).		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Silent	SNP	ENST00000379987.2	37	c.324C>T	CCDS34046.1	.	.	.	.	.	.	.	.	.	.	C	7.288	0.610517	0.14066	.	.	ENSG00000168743	ENST00000514837	.	.	.	5.05	-1.81	0.07882	.	.	.	.	.	T	0.58637	0.2136	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56703	-0.7935	4	.	.	.	.	12.5725	0.56344	0.0:0.5093:0.0:0.4907	.	.	.	.	W	85	.	.	R	+	1	2	NPNT	107077673	0.001000	0.12720	0.162000	0.22713	0.928000	0.56348	-1.504000	0.02275	-0.313000	0.08728	-1.170000	0.01741	CGG		0.448	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		18	16	0	0	0	1	0	18	16				
P4HA2	8974	broad.mit.edu	37	5	131544898	131544898	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:131544898C>A	ENST00000401867.1	-	8	1404	c.836G>T	c.(835-837)aGg>aTg	p.R279M	P4HA2_ENST00000166534.4_Missense_Mutation_p.R279M|P4HA2_ENST00000379086.1_Missense_Mutation_p.R279M|P4HA2_ENST00000360568.3_Missense_Mutation_p.R279M|P4HA2_ENST00000379100.2_Missense_Mutation_p.R279M|P4HA2_ENST00000379104.2_Missense_Mutation_p.R279M			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	279					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GTCCACAGGCCTCTCATAGAT	0.512																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(835-837)aGg>aTg		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						230.0	221.0	224.0					5																	131544898		2203	4300	6503	SO:0001583	missense	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131544898C>A	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.836G>T	5.37:g.131544898C>A	ENSP00000384999:p.Arg279Met					P4HA2_ENST00000379104.2_Missense_Mutation_p.R279M|P4HA2_ENST00000360568.3_Missense_Mutation_p.R279M|P4HA2_ENST00000166534.4_Missense_Mutation_p.R279M|P4HA2_ENST00000379086.1_Missense_Mutation_p.R279M|P4HA2_ENST00000379100.2_Missense_Mutation_p.R279M	p.R279M			O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1404	-		all_cancers(142;0.103)|Breast(839;0.198)	279					D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	ENST00000401867.1	37	c.836G>T	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828479	0.90955	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.61009	0.2313	L	0.54323	1.7	0.80722	D	1	D;D	0.54207	0.964;0.965	P;P	0.56474	0.634;0.799	T	0.56739	-0.7929	10	0.40728	T	0.16	-19.5063	19.7739	0.96383	0.0:1.0:0.0:0.0	.	279;279	O15460;O15460-2	P4HA2_HUMAN;.	M	279	ENSP00000384999:R279M;ENSP00000368379:R279M;ENSP00000166534:R279M;ENSP00000353772:R279M;ENSP00000368398:R279M;ENSP00000368394:R279M	ENSP00000166534:R279M	R	-	2	0	P4HA2	131572797	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.552000	0.67281	2.744000	0.94065	0.655000	0.94253	AGG		0.512	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		7	127	1	0	0.00307968	1	0.00310249	7	127				
THOC6	79228	broad.mit.edu	37	16	3076395	3076395	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:3076395C>A	ENST00000326266.8	+	6	688	c.392C>A	c.(391-393)gCt>gAt	p.A131D	HCFC1R1_ENST00000574151.1_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.A107D|HCFC1R1_ENST00000354679.3_5'Flank|THOC6_ENST00000575576.1_Missense_Mutation_p.A107D|HCFC1R1_ENST00000396916.1_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000574980.1_5'Flank|THOC6_ENST00000253952.9_Missense_Mutation_p.A131D	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	131					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GAGATCAACGCTTTGCTGCTG	0.542																																						ENST00000326266.8																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						c.(391-393)gCt>gAt		THO complex 6 homolog (Drosophila)							120.0	102.0	108.0					16																	3076395		2198	4300	6498	SO:0001583	missense	79228				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	g.chr16:3076395C>A	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.392C>A	16.37:g.3076395C>A	ENSP00000326531:p.Ala131Asp					THOC6_ENST00000574549.1_Missense_Mutation_p.A107D|THOC6_ENST00000253952.9_Missense_Mutation_p.A131D|THOC6_ENST00000575576.1_Missense_Mutation_p.A107D	p.A131D	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN			6	688	+			131					B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	37	c.392C>A	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645504	0.47258	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.29142	1.58;1.58	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.456841	0.25148	N	0.032761	T	0.33789	0.0875	M	0.65498	2.005	0.46749	D	0.999189	B;B	0.28850	0.225;0.103	B;B	0.26517	0.07;0.03	T	0.15350	-1.0440	10	0.72032	D	0.01	-19.6948	12.9836	0.58579	0.0:0.8377:0.1623:0.0	.	131;131	Q86W42-3;Q86W42	.;THOC6_HUMAN	D	131	ENSP00000326531:A131D;ENSP00000253952:A131D	ENSP00000253952:A131D	A	+	2	0	THOC6	3016396	1.000000	0.71417	0.979000	0.43373	0.954000	0.61252	3.284000	0.51708	2.696000	0.92011	0.561000	0.74099	GCT		0.542	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		20	23	1	0	1.15919e-05	1	1.20343e-05	20	23				
APBA1	320	broad.mit.edu	37	9	72131916	72131916	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr9:72131916G>A	ENST00000265381.4	-	2	433	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	71					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CATTCCCCGCGCTCCTCTTCC	0.731																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(211-213)Cgc>Tgc		amyloid beta (A4) precursor protein-binding, family A, member 1							10.0	12.0	11.0					9																	72131916		2185	4254	6439	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131916G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.211C>T	9.37:g.72131916G>A	ENSP00000265381:p.Arg71Cys						p.R71C	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	433	-			71					O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.211C>T	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229548	0.39399	.	.	ENSG00000107282	ENST00000265381	T	0.05382	3.45	5.08	4.18	0.49190	.	0.636915	0.15686	N	0.249656	T	0.03783	0.0107	N	0.14661	0.345	0.35388	D	0.790529	P	0.49358	0.923	B	0.33799	0.17	T	0.48670	-0.9015	10	0.56958	D	0.05	.	11.9448	0.52922	0.0:0.1315:0.732:0.1366	.	71	Q02410	APBA1_HUMAN	C	71	ENSP00000265381:R71C	ENSP00000265381:R71C	R	-	1	0	APBA1	71321736	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.373000	0.59537	1.139000	0.42245	0.655000	0.94253	CGC		0.731	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		4	10	0	0	0	1	0	4	10				
ATP2C2	9914	broad.mit.edu	37	16	84438757	84438757	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:84438757G>A	ENST00000262429.4	+	3	323	c.234G>A	c.(232-234)tcG>tcA	p.S78S	ATP2C2_ENST00000416219.2_Silent_p.S78S	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	78					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTGGGCTGTCGGAGTTCTCGG	0.567																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(232-234)tcG>tcA		ATPase, Ca++ transporting, type 2C, member 2							73.0	79.0	77.0					16																	84438757		2109	4241	6350	SO:0001819	synonymous_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84438757G>A	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.234G>A	16.37:g.84438757G>A						ATP2C2_ENST00000262429.4_Silent_p.S78S	p.S78S			O75185	AT2C2_HUMAN			3	323	+			78					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.234G>A	CCDS42207.1																																																																																				0.567	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		13	34	0	0	0	1	0	13	34				
TNC	3371	broad.mit.edu	37	9	117849133	117849133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr9:117849133G>A	ENST00000350763.4	-	3	1288	c.877C>T	c.(877-879)Cga>Tga	p.R293*	TNC_ENST00000537320.1_Nonsense_Mutation_p.R293*|TNC_ENST00000340094.3_Nonsense_Mutation_p.R293*|TNC_ENST00000423613.2_Nonsense_Mutation_p.R293*|TNC_ENST00000346706.3_Nonsense_Mutation_p.R293*|TNC_ENST00000535648.1_Nonsense_Mutation_p.R293*|TNC_ENST00000345230.3_Nonsense_Mutation_p.R293*|TNC_ENST00000542877.1_Nonsense_Mutation_p.R293*|TNC_ENST00000341037.4_Nonsense_Mutation_p.R293*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	293	EGF-like 5. {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						TCCACGCATCGTCCACGGTTG	0.562																																						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.(877-879)Cga>Tga		tenascin C							226.0	168.0	188.0					9																	117849133		2203	4300	6503	SO:0001587	stop_gained	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117849133G>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.877C>T	9.37:g.117849133G>A	ENSP00000265131:p.Arg293*					TNC_ENST00000423613.2_Nonsense_Mutation_p.R293*|TNC_ENST00000346706.3_Nonsense_Mutation_p.R293*|TNC_ENST00000542877.1_Nonsense_Mutation_p.R293*|TNC_ENST00000341037.4_Nonsense_Mutation_p.R293*|TNC_ENST00000535648.1_Nonsense_Mutation_p.R293*|TNC_ENST00000340094.3_Nonsense_Mutation_p.R293*|TNC_ENST00000537320.1_Nonsense_Mutation_p.R293*|TNC_ENST00000345230.3_Nonsense_Mutation_p.R293*	p.R293*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			3	1288	-			293			EGF-like 5.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Nonsense_Mutation	SNP	ENST00000350763.4	37	c.877C>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	40	8.224891	0.98714	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	.	.	.	5.56	2.5	0.30297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9937	0.64382	0.0:0.0:0.6067:0.3933	.	.	.	.	X	293	.	ENSP00000344400:R293X	R	-	1	2	TNC	116888954	1.000000	0.71417	0.996000	0.52242	0.795000	0.44927	3.669000	0.54561	0.805000	0.34159	0.563000	0.77884	CGA		0.562	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		15	74	0	0	0	1	0	15	74				
ATP5H	10476	broad.mit.edu	37	17	73035039	73035039	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:73035039A>G	ENST00000301587.4	-	6	521	c.474T>C	c.(472-474)atT>atC	p.I158I	KCTD2_ENST00000581589.1_Intron|KCTD2_ENST00000584767.1_Intron|ATP5H_ENST00000344546.4_Silent_p.I134I|RN7SL573P_ENST00000485340.2_RNA	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d	158					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			lung(1)|skin(1)	2	all_lung(278;0.226)					ATAAATTCTCAATTGGTTGGT	0.368																																						ENST00000301587.4																			0				lung(1)|skin(1)	2						c.(472-474)atT>atC		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d							77.0	76.0	76.0					17																	73035039		2203	4300	6503	SO:0001819	synonymous_variant	10476				ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity	g.chr17:73035039A>G	AF087135	CCDS11712.1, CCDS32727.1	17q25	2014-01-24	2010-06-11		ENSG00000167863	ENSG00000167863		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	845	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d"""			11042152	Standard	NM_006356		Approved	ATPQ, ATP5JD	uc002jmn.1	O75947	OTTHUMG00000179219	ENST00000301587.4:c.474T>C	17.37:g.73035039A>G						ATP5H_ENST00000344546.4_Silent_p.I134I|KCTD2_ENST00000581589.1_Intron|KCTD2_ENST00000584767.1_Intron	p.I158I	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN			6	521	-	all_lung(278;0.226)		158					B2R5L6|Q9H3J4	Silent	SNP	ENST00000301587.4	37	c.474T>C	CCDS11712.1																																																																																				0.368	ATP5H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445318.1	NM_006356		17	42	0	0	0	1	0	17	42				
AKAP9	10142	broad.mit.edu	37	7	91712544	91712544	+	Missense_Mutation	SNP	G	G	T	rs368001901		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:91712544G>T	ENST00000359028.2	+	34	8482	c.8257G>T	c.(8257-8259)Gca>Tca	p.A2753S	AKAP9_ENST00000356239.3_Missense_Mutation_p.A2741S|AKAP9_ENST00000358100.2_Missense_Mutation_p.A2753S			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2753	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGATCACCTCGCAGAGGCAAA	0.368			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(8257-8259)Gca>Tca		A kinase (PRKA) anchor protein 9							64.0	63.0	63.0					7																	91712544		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91712544G>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8257G>T	7.37:g.91712544G>T	ENSP00000351922:p.Ala2753Ser					AKAP9_ENST00000358100.2_Missense_Mutation_p.A2753S|AKAP9_ENST00000356239.3_Missense_Mutation_p.A2741S	p.A2753S			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		34	8482	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2753			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.8257G>T		.	.	.	.	.	.	.	.	.	.	g	0.297	-0.976474	0.02215	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	4.8	-1.99	0.07457	.	0.651149	0.12866	N	0.432703	T	0.23532	0.0569	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.13145	0.007;0.005;0.003;0.005;0.005	B;B;B;B;B	0.11329	0.006;0.006;0.003;0.006;0.006	T	0.27400	-1.0075	10	0.15952	T	0.53	.	11.152	0.48464	0.5861:0.0:0.4139:0.0	.	2745;2745;2753;2741;2733	F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	S	2741;2753;2753;2745;587	ENSP00000348573:A2741S;ENSP00000351922:A2753S;ENSP00000350813:A2753S;ENSP00000378042:A587S	ENSP00000348573:A2741S	A	+	1	0	AKAP9	91550480	0.000000	0.05858	0.053000	0.19242	0.025000	0.11179	-0.395000	0.07287	-0.221000	0.09973	-2.667000	0.00145	GCA		0.368	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		11	43	1	0	3.86212e-05	1	3.95916e-05	11	43				
CUX1	1523	broad.mit.edu	37	7	101921226	101921226	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:101921226C>T	ENST00000437600.4	+	18	1916	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	CUX1_ENST00000547394.2_Missense_Mutation_p.R508C|CUX1_ENST00000425244.2_Missense_Mutation_p.R478C|CUX1_ENST00000292538.4_Missense_Mutation_p.R524C|CUX1_ENST00000393824.3_Missense_Mutation_p.R485C|CUX1_ENST00000560541.1_3'UTR	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	335					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCAGGAGAACCGCCTGGCCCA	0.642																																						ENST00000437600.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(1564-1566)Cgc>Tgc		cut-like homeobox 1							15.0	14.0	15.0					7																	101921226		2192	4285	6477	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101921226C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000437600.4:c.1564C>T	7.37:g.101921226C>T	ENSP00000414091:p.Arg522Cys					CUX1_ENST00000547394.2_Missense_Mutation_p.R508C|CUX1_ENST00000393824.3_Missense_Mutation_p.R485C|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292538.4_Missense_Mutation_p.R524C|CUX1_ENST00000425244.2_Missense_Mutation_p.R478C	p.R522C	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN			18	1916	+			335					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000437600.4	37	c.1564C>T	CCDS47672.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049017	0.75846	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000425244;ENST00000437600	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	4.55	4.55	0.56014	CASP, C-terminal (1);	.	.	.	.	T	0.62122	0.2402	M	0.87097	2.86	0.37559	D	0.919008	D;D;D;D;D	0.89917	0.999;1.0;0.998;0.998;1.0	P;D;P;P;D	0.66847	0.877;0.947;0.899;0.731;0.916	T	0.72981	-0.4126	9	0.72032	D	0.01	.	12.8156	0.57663	0.1636:0.8364:0.0:0.0	.	485;478;508;522;524	B4DZZ2;B3KV79;G3V1Z6;Q13948-2;Q13948	.;.;.;.;CASP_HUMAN	C	524;508;478;522	ENSP00000292538:R524C;ENSP00000449371:R508C;ENSP00000409745:R478C;ENSP00000414091:R522C	ENSP00000292538:R524C	R	+	1	0	CUX1	101707946	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.716000	0.47219	2.281000	0.76405	0.456000	0.33151	CGC		0.642	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	NM_001913		3	2	0	0	0	1	0	3	2				
OTUD4	54726	broad.mit.edu	37	4	146058591	146058591	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:146058591C>T	ENST00000447906.2	-	21	3523	c.3336G>A	c.(3334-3336)caG>caA	p.Q1112Q	OTUD4_ENST00000454497.2_Silent_p.Q1047Q|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1112					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ATCAAGTGTGCTGTCCCCTAT	0.433																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(3139-3141)caG>caA		OTU domain containing 4							147.0	140.0	142.0					4																	146058591		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146058591C>T		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.3336G>A	4.37:g.146058591C>T						OTUD4_ENST00000447906.2_Silent_p.Q1112Q|OTUD4_ENST00000455611.2_Intron	p.Q1047Q	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	3278	-	all_hematologic(180;0.151)		1111					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.3141G>A																																																																																					0.433	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		14	138	0	0	0	1	0	14	138				
TRAF7	84231	broad.mit.edu	37	16	2226330	2226330	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:2226330C>T	ENST00000326181.6	+	20	2075	c.1943C>T	c.(1942-1944)gCg>gTg	p.A648V		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	648					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						AGTGTCACCGCGCTGGCTGTG	0.642																																						ENST00000326181.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						c.(1942-1944)gCg>gTg		TNF receptor-associated factor 7, E3 ubiquitin protein ligase							24.0	23.0	23.0					16																	2226330		2188	4297	6485	SO:0001583	missense	84231				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2226330C>T	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1943C>T	16.37:g.2226330C>T	ENSP00000318944:p.Ala648Val						p.A648V	NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN			20	2075	+			648					Q9H073	Missense_Mutation	SNP	ENST00000326181.6	37	c.1943C>T	CCDS10461.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057413	0.76074	.	.	ENSG00000131653	ENST00000326181	T	0.61859	0.07	4.99	4.99	0.66335	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	M	0.64080	1.96	0.80722	D	1	D	0.59357	0.985	P	0.46208	0.507	T	0.67941	-0.5540	10	0.62326	D	0.03	-34.4038	17.4344	0.87547	0.0:1.0:0.0:0.0	.	648	Q6Q0C0	TRAF7_HUMAN	V	648	ENSP00000318944:A648V	ENSP00000318944:A648V	A	+	2	0	TRAF7	2166331	1.000000	0.71417	0.214000	0.23707	0.737000	0.42083	6.915000	0.75770	2.599000	0.87857	0.563000	0.77884	GCG		0.642	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		6	12	0	0	0	1	0	6	12				
COLGALT1	79709	broad.mit.edu	37	19	17688792	17688792	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:17688792C>T	ENST00000252599.4	+	9	1280	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	387					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										CAGGTGGAGGCGCTGGGGATC	0.642																																						ENST00000252599.4																			0											c.(1159-1161)gCg>gTg		collagen beta(1-O)galactosyltransferase 1							55.0	52.0	53.0					19																	17688792		2203	4300	6503	SO:0001583	missense	79709							g.chr19:17688792C>T	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1160C>T	19.37:g.17688792C>T	ENSP00000252599:p.Ala387Val						p.A387V	NM_024656.2	NP_078932.2					9	1280	+								Q8NC64	Missense_Mutation	SNP	ENST00000252599.4	37	c.1160C>T	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672764	0.67928	.	.	ENSG00000130309	ENST00000379714;ENST00000252599	T	0.78481	-1.18	5.03	3.98	0.46160	.	0.233792	0.42682	D	0.000662	T	0.81240	0.4781	L	0.57130	1.785	0.47862	D	0.999535	D;D	0.63880	0.993;0.973	P;P	0.58620	0.842;0.684	T	0.78710	-0.2098	10	0.33141	T	0.24	-15.4631	10.6404	0.45590	0.3482:0.6518:0.0:0.0	.	115;387	E9PC06;Q8NBJ5	.;GT251_HUMAN	V	115;387	ENSP00000252599:A387V	ENSP00000252599:A387V	A	+	2	0	GLT25D1	17549792	0.051000	0.20477	0.826000	0.32828	0.513000	0.34164	0.481000	0.22260	1.097000	0.41459	0.313000	0.20887	GCG		0.642	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		23	36	0	0	0	1	0	23	36				
PIPSL	266971	broad.mit.edu	37	10	95721253	95721253	+	RNA	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:95721253G>A	ENST00000480546.1	-	0	44					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										GGAGGCCGACGCCATCTTGGC	0.572																																						ENST00000480546.1																			0																																																			0							g.chr10:95721253G>A	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95721253G>A								NR_002319.2						0	44	-								Q6NUK8	RNA	SNP	ENST00000480546.1	37																																																																																						0.572	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		6	90	0	0	0	1	0	6	90				
SLCO5A1	81796	broad.mit.edu	37	8	70744219	70744219	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:70744219C>T	ENST00000260126.4	-	2	1396	c.690G>A	c.(688-690)tcG>tcA	p.S230S	SLCO5A1_ENST00000524945.1_Silent_p.S230S|SLCO5A1_ENST00000530307.1_Silent_p.S230S|RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000528800.2_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CGTTGGGGGCCGAGGCGTTCA	0.632																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(688-690)tcG>tcA		solute carrier organic anion transporter family, member 5A1							30.0	36.0	34.0					8																	70744219		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744219C>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.690G>A	8.37:g.70744219C>T						SLCO5A1_ENST00000530307.1_Silent_p.S230S|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Silent_p.S230S	p.S230S	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1396	-	Breast(64;0.0654)		230					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.690G>A	CCDS6205.1																																																																																				0.632	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		15	24	0	0	0	1	0	15	24				
ANO1	55107	broad.mit.edu	37	11	70031720	70031720	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:70031720G>A	ENST00000355303.5	+	25	2918	c.2613G>A	c.(2611-2613)ccG>ccA	p.P871P	ANO1_ENST00000525494.1_3'UTR|ANO1-AS1_ENST00000524987.1_RNA|ANO1_ENST00000530676.1_Silent_p.P725P|ANO1_ENST00000398543.2_Silent_p.P725P|ANO1_ENST00000531349.1_Silent_p.P580P|ANO1_ENST00000538023.1_Silent_p.P871P	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	871					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GAGAGCCGCCGTGGTCGGAAA	0.607																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(2611-2613)ccG>ccA		anoctamin 1, calcium activated chloride channel							92.0	101.0	98.0					11																	70031720		1940	4141	6081	SO:0001819	synonymous_variant	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70031720G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2613G>A	11.37:g.70031720G>A						ANO1_ENST00000538023.1_Silent_p.P871P|ANO1_ENST00000531349.1_Silent_p.P580P|ANO1_ENST00000530676.1_Silent_p.P725P|ANO1_ENST00000398543.2_Silent_p.P725P|ANO1_ENST00000525494.1_3'UTR	p.P871P	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			25	2918	+			871					A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	ENST00000355303.5	37	c.2613G>A	CCDS44663.1																																																																																				0.607	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		11	34	0	0	0	1	0	11	34				
NEU4	129807	broad.mit.edu	37	2	242755694	242755694	+	Missense_Mutation	SNP	C	C	T	rs376890171		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:242755694C>T	ENST00000391969.2	+	3	724	c.13C>T	c.(13-15)Cgt>Tgt	p.R5C	NEU4_ENST00000404257.1_Missense_Mutation_p.R17C|NEU4_ENST00000325935.6_Missense_Mutation_p.R18C|AC114730.3_ENST00000420272.2_RNA|NEU4_ENST00000405370.1_Missense_Mutation_p.R5C|NEU4_ENST00000407683.1_Missense_Mutation_p.R5C	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	5					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GGGGGTCCCTCGTACCCCTTC	0.701																																						ENST00000391969.2																			0				breast(1)|lung(10)|prostate(2)|skin(2)	15						c.(13-15)Cgt>Tgt		sialidase 4							34.0	35.0	35.0					2																	242755694		2203	4300	6503	SO:0001583	missense	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242755694C>T	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.13C>T	2.37:g.242755694C>T	ENSP00000375830:p.Arg5Cys					NEU4_ENST00000407683.1_Missense_Mutation_p.R5C|NEU4_ENST00000325935.6_Missense_Mutation_p.R18C|NEU4_ENST00000405370.1_Missense_Mutation_p.R5C|NEU4_ENST00000404257.1_Missense_Mutation_p.R17C	p.R5C	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	3	724	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	5					A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	c.13C>T	CCDS54442.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.42|14.42	2.529259|2.529259	0.44969|0.44969	.|.	.|.	ENSG00000204099|ENSG00000204099	ENST00000407683;ENST00000415936;ENST00000405370;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000435934;ENST00000435894;ENST00000426032;ENST00000420288;ENST00000428592|ENST00000472793	T;T;T;T;T;T;T;T;T;T;T|.	0.78924|.	-1.05;1.33;-1.05;-0.31;2.95;-1.05;2.95;1.49;1.34;-1.22;2.95|.	3.65|3.65	-0.172|-0.172	0.13327|0.13327	.|.	0.615494|.	0.16403|.	U|.	0.215950|.	T|T	0.26448|0.26448	0.0646|0.0646	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	D;D;D|.	0.71674|.	0.997;0.998;0.987|.	P;P;P|.	0.53649|.	0.543;0.731;0.505|.	T|T	0.32693|0.32693	-0.9897|-0.9897	10|6	0.38643|0.87932	T|D	0.18|0	-0.1264|-0.1264	6.8668|6.8668	0.24098|0.24098	0.3005:0.5979:0.0:0.1016|0.3005:0.5979:0.0:0.1016	.|.	17;17;5|.	A8K211;Q8WWR8-2;Q8WWR8|.	.;.;NEUR4_HUMAN|.	C|L	5;5;5;5;17;5;18;44;5;17;5;46|28	ENSP00000385402:R5C;ENSP00000397167:R5C;ENSP00000384804:R5C;ENSP00000397860:R5C;ENSP00000385149:R17C;ENSP00000375830:R5C;ENSP00000320318:R18C;ENSP00000398571:R5C;ENSP00000406678:R17C;ENSP00000388707:R5C;ENSP00000396197:R46C|.	ENSP00000320318:R18C|ENSP00000441629:S28L	R|S	+|+	1|2	0|0	NEU4|NEU4	242404367|242404367	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.012000|0.012000	0.07955|0.07955	1.165000|1.165000	0.31822|0.31822	0.465000|0.465000	0.27167|0.27167	0.443000|0.443000	0.29094|0.29094	CGT|TCG		0.701	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		4	33	0	0	0	1	0	4	33				
PTGFRN	5738	broad.mit.edu	37	1	117516856	117516856	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:117516856C>A	ENST00000393203.2	+	7	2225	c.2078C>A	c.(2077-2079)tCt>tAt	p.S693Y	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	693	Ig-like C2-type 6.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TTTAATGCTTCTGTGCATTCA	0.423																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2077-2079)tCt>tAt		prostaglandin F2 receptor inhibitor							186.0	196.0	193.0					1																	117516856		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117516856C>A	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2078C>A	1.37:g.117516856C>A	ENSP00000376899:p.Ser693Tyr					PTGFRN_ENST00000496699.1_3'UTR	p.S693Y	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	7	2225	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	693			Ig-like C2-type 6.		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.2078C>A	CCDS890.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965920	0.74131	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.03982	3.74	5.74	5.74	0.90152	Immunoglobulin-like (1);	0.137479	0.50627	D	0.000101	T	0.11623	0.0283	L	0.57536	1.79	0.53688	D	0.999974	D	0.76494	0.999	D	0.72982	0.979	T	0.00645	-1.1629	10	0.52906	T	0.07	-20.0722	15.4328	0.75116	0.0:1.0:0.0:0.0	.	693	Q9P2B2	FPRP_HUMAN	Y	693;552	ENSP00000376899:S693Y	ENSP00000376899:S693Y	S	+	2	0	PTGFRN	117318379	0.997000	0.39634	1.000000	0.80357	0.867000	0.49689	3.802000	0.55553	2.720000	0.93068	0.650000	0.86243	TCT		0.423	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		32	61	1	0	5.91797e-21	1	6.43875e-21	32	61				
PPHLN1	51535	broad.mit.edu	37	12	42778750	42778750	+	Missense_Mutation	SNP	C	C	T	rs144485658		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:42778750C>T	ENST00000395568.2	+	6	604	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C	PPHLN1_ENST00000337898.6_Missense_Mutation_p.R119C|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000552761.1_Missense_Mutation_p.R126C|PPHLN1_ENST00000358314.7_Missense_Mutation_p.R174C|PPHLN1_ENST00000432191.2_Missense_Mutation_p.R119C|PPHLN1_ENST00000395580.3_Missense_Mutation_p.R181C|PPHLN1_ENST00000549190.1_Missense_Mutation_p.R192C	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	174	Ser-rich.				keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R174C(2)		breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		AGAGTCCGTGCGTCCTGGTGC	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20599	0.0		0.0	False		,,,				2504	0.0					ENST00000432191.2																			2	Substitution - Missense(2)	p.R174C(2)	large_intestine(2)	breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(355-357)Cgt>Tgt		periphilin 1		C	CYS/ARG,,,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	124.0	105.0	111.0		355,,,520,376,520,376,541	4.5	0.8	12	dbSNP_134	111	0,8600		0,0,4300	no	missense,intron,intron,missense,missense,missense,missense,missense	PPHLN1	NM_001143787.1,NM_001143788.1,NM_001143789.1,NM_016488.6,NM_201438.1,NM_201439.1,NM_201440.1,NM_201515.1	180,,,180,180,180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,,,benign,benign,benign,benign,benign	119/435,,,174/459,126/259,174/368,126/320,181/375	42778750	1,13005	2203	4300	6503	SO:0001583	missense	51535				keratinization	cytoplasm|nucleus		g.chr12:42778750C>T	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.520C>T	12.37:g.42778750C>T	ENSP00000378935:p.Arg174Cys					PPHLN1_ENST00000549190.1_Missense_Mutation_p.R192C|PPHLN1_ENST00000358314.7_Missense_Mutation_p.R174C|PPHLN1_ENST00000552761.1_Missense_Mutation_p.R126C|PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000337898.6_Missense_Mutation_p.R119C|PPHLN1_ENST00000395580.3_Missense_Mutation_p.R181C|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395568.2_Missense_Mutation_p.R174C|PPHLN1_ENST00000256678.8_Intron	p.R119C	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN		GBM - Glioblastoma multiforme(48;0.0875)	5	427	+	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)	174					E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	ENST00000395568.2	37	c.355C>T	CCDS31777.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850235	0.71719	2.27E-4	0.0	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000337898;ENST00000358314;ENST00000395568;ENST00000552761;ENST00000432191	.	.	.	5.4	4.49	0.54785	.	0.394307	0.23351	N	0.049131	T	0.65974	0.2743	L	0.47716	1.5	0.40396	D	0.97959	D;D;D;D;D;D;D	0.89917	0.997;1.0;0.999;0.999;0.998;0.998;0.998	P;D;P;P;P;P;P	0.65010	0.642;0.931;0.759;0.736;0.731;0.736;0.804	T	0.66089	-0.6010	9	0.41790	T	0.15	-1.0689	11.8718	0.52525	0.0:0.8248:0.1752:0.0	.	119;119;174;126;181;126;192	B7Z8L1;Q8NEY8-3;Q8NEY8;Q8NEY8-6;Q8NEY8-2;Q8NEY8-5;F8W0Q9	.;.;PPHLN_HUMAN;.;.;.;.	C	192;181;119;174;174;126;119	.	ENSP00000338510:R119C	R	+	1	0	PPHLN1	41065017	0.998000	0.40836	0.831000	0.32960	0.919000	0.55068	1.995000	0.40767	1.464000	0.47987	0.655000	0.94253	CGT		0.498	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		12	30	0	0	0	1	0	12	30				
ALKBH1	8846	broad.mit.edu	37	14	78140481	78140481	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:78140481T>C	ENST00000216489.3	-	6	859	c.844A>G	c.(844-846)Agc>Ggc	p.S282G		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	282	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		AAGAGGCGGCTGAAACCCGAC	0.577																																						ENST00000216489.3																			0				endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						c.(844-846)Agc>Ggc		alkB, alkylation repair homolog 1 (E. coli)							53.0	48.0	50.0					14																	78140481		2203	4300	6503	SO:0001583	missense	8846				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:78140481T>C	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"""Alkylation repair homologs"""	17911	protein-coding gene	gene with protein product		605345	"""alkB, alkylation repair homolog (E. coli)"""	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.844A>G	14.37:g.78140481T>C	ENSP00000216489:p.Ser282Gly						p.S282G	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	6	859	-			282			Fe2OG dioxygenase.		Q8TAU1|Q9ULA7	Missense_Mutation	SNP	ENST00000216489.3	37	c.844A>G	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	T	32	5.124009	0.94429	.	.	ENSG00000100601	ENST00000216489	T	0.13307	2.6	5.95	5.95	0.96441	Oxoglutarate/iron-dependent oxygenase (1);	0.000000	0.85682	D	0.000000	T	0.39809	0.1092	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.20042	-1.0287	10	0.72032	D	0.01	-15.8025	16.4237	0.83790	0.0:0.0:0.0:1.0	.	282	Q13686	ALKB1_HUMAN	G	282	ENSP00000216489:S282G	ENSP00000216489:S282G	S	-	1	0	ALKBH1	77210234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.604000	0.82830	2.279000	0.76181	0.533000	0.62120	AGC		0.577	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		11	22	0	0	0	1	0	11	22				
COL7A1	1294	broad.mit.edu	37	3	48626076	48626076	+	Splice_Site	SNP	C	C	T	rs537416600		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:48626076C>T	ENST00000328333.8	-	19	2693	c.2586G>A	c.(2584-2586)acG>acA	p.T862T	COL7A1_ENST00000454817.1_Splice_Site_p.T862T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	862	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTGCCTACGCGTAGTGACAA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19765	0.0		0.001	False		,,,				2504	0.0					ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.e19+1		collagen, type VII, alpha 1							68.0	71.0	70.0					3																	48626076		2203	4300	6503	SO:0001630	splice_region_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48626076C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2587+1G>A	3.37:g.48626076C>T						COL7A1_ENST00000454817.1_Splice_Site_p.T862_splice	p.T862_splice	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	19	2693	-			862			Fibronectin type-III 7.|Nonhelical region (NC1).		Q14054|Q16507	Splice_Site	SNP	ENST00000328333.8	37	c.2587_splice	CCDS2773.1																																																																																				0.587	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	Silent	19	30	0	0	0	1	0	19	30				
GPR64	10149	broad.mit.edu	37	X	19037719	19037719	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:19037719C>T	ENST00000379869.3	-	15	871	c.708G>A	c.(706-708)caG>caA	p.Q236Q	GPR64_ENST00000357991.3_Silent_p.Q233Q|GPR64_ENST00000360279.4_Silent_p.Q214Q|GPR64_ENST00000379876.1_Silent_p.Q212Q|GPR64_ENST00000357544.3_Silent_p.Q206Q|GPR64_ENST00000356606.4_Silent_p.Q222Q|GPR64_ENST00000379873.2_Silent_p.Q236Q|GPR64_ENST00000379878.3_Silent_p.Q220Q|GPR64_ENST00000340581.3_Silent_p.Q206Q|GPR64_ENST00000354791.3_Silent_p.Q220Q	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	236					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TTACATACCACTGAAGCTTTT	0.398																																						ENST00000354791.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(658-660)caG>caA		G protein-coupled receptor 64							89.0	82.0	84.0					X																	19037719		2203	4300	6503	SO:0001819	synonymous_variant	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19037719C>T	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.708G>A	X.37:g.19037719C>T						GPR64_ENST00000379873.2_Silent_p.Q236Q|GPR64_ENST00000340581.3_Silent_p.Q206Q|GPR64_ENST00000357544.3_Silent_p.Q206Q|GPR64_ENST00000357991.3_Silent_p.Q233Q|GPR64_ENST00000379878.3_Silent_p.Q220Q|GPR64_ENST00000360279.4_Silent_p.Q214Q|GPR64_ENST00000379876.1_Silent_p.Q212Q|GPR64_ENST00000379869.3_Silent_p.Q236Q|GPR64_ENST00000356606.4_Silent_p.Q222Q	p.Q220Q			Q8IZP9	GPR64_HUMAN			14	901	-	Hepatocellular(33;0.183)		236					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	ENST00000379869.3	37	c.660G>A	CCDS43923.1																																																																																				0.398	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			8	15	0	0	0	1	0	8	15				
FAM208A	23272	broad.mit.edu	37	3	56682861	56682861	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:56682861C>T	ENST00000493960.2	-	13	1512	c.1502G>A	c.(1501-1503)aGc>aAc	p.S501N	FAM208A_ENST00000431842.2_Missense_Mutation_p.S105N|FAM208A_ENST00000355628.5_Missense_Mutation_p.S501N	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	501							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AGTAACTATGCTTCTAGGTTC	0.308																																						ENST00000431842.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(313-315)aGc>aAc		family with sequence similarity 208, member A							40.0	42.0	41.0					3																	56682861		2202	4297	6499	SO:0001583	missense	23272							g.chr3:56682861C>T	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.1502G>A	3.37:g.56682861C>T	ENSP00000417509:p.Ser501Asn					FAM208A_ENST00000493960.2_Missense_Mutation_p.S501N|FAM208A_ENST00000355628.5_Missense_Mutation_p.S501N	p.S105N	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			6	1238	-			501					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.314G>A	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028438	0.35797	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.12569	2.67;2.85;2.85	5.92	3.11	0.35812	.	0.767063	0.12184	N	0.491801	T	0.10121	0.0248	L	0.34521	1.04	0.20873	N	0.99984	B;B;B	0.24426	0.103;0.0;0.002	B;B;B	0.22601	0.04;0.0;0.001	T	0.34625	-0.9821	10	0.34782	T	0.22	7.5452	5.6352	0.17532	0.1174:0.643:0.1134:0.1261	.	501;501;105	Q9UK61-3;Q9UK61-4;Q9UK61-2	.;.;.	N	105;501;501	ENSP00000399410:S105N;ENSP00000417509:S501N;ENSP00000347845:S501N	ENSP00000347845:S501N	S	-	2	0	C3orf63	56657901	0.954000	0.32549	0.178000	0.23040	0.976000	0.68499	2.626000	0.46460	0.384000	0.24942	0.650000	0.86243	AGC		0.308	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		4	32	0	0	0	1	0	4	32				
EHD4	30844	broad.mit.edu	37	15	42193022	42193022	+	Missense_Mutation	SNP	C	C	T	rs200735207		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:42193022C>T	ENST00000220325.4	-	6	1530	c.1447G>A	c.(1447-1449)Gtc>Atc	p.V483I	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	483	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TTGCCCAGGACGCTGTTGGGC	0.567																																						ENST00000220325.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20						c.(1447-1449)Gtc>Atc		EH-domain containing 4							89.0	75.0	80.0					15																	42193022		2203	4299	6502	SO:0001583	missense	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42193022C>T	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1447G>A	15.37:g.42193022C>T	ENSP00000220325:p.Val483Ile						p.V483I	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	6	1530	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	483			EF-hand.|EH.		Q9HAR1|Q9NZN2	Missense_Mutation	SNP	ENST00000220325.4	37	c.1447G>A	CCDS10081.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202268	0.79127	.	.	ENSG00000103966	ENST00000220325	T	0.30182	1.54	4.83	4.83	0.62350	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.061506	0.64402	D	0.000005	T	0.31136	0.0787	L	0.54965	1.715	0.80722	D	1	P	0.41393	0.748	B	0.35413	0.202	T	0.25187	-1.0139	10	0.54805	T	0.06	-44.3363	18.2861	0.90114	0.0:1.0:0.0:0.0	.	483	Q9H223	EHD4_HUMAN	I	483	ENSP00000220325:V483I	ENSP00000220325:V483I	V	-	1	0	EHD4	39980314	1.000000	0.71417	0.839000	0.33178	0.966000	0.64601	7.759000	0.85235	2.394000	0.81467	0.543000	0.68304	GTC		0.567	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		4	41	0	0	0	1	0	4	41				
RIN3	79890	broad.mit.edu	37	14	93022190	93022190	+	Missense_Mutation	SNP	C	C	T	rs138055945		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:93022190C>T	ENST00000216487.7	+	2	298	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C		NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	47					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCTTCCTCACCGCCGGGGCAT	0.587																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(139-141)Cgc>Tgc		Ras and Rab interactor 3		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	64.0	60.0	61.0		139	4.0	0.0	14	dbSNP_134	61	0,8600		0,0,4300	no	missense	RIN3	NM_024832.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	47/986	93022190	1,13005	2203	4300	6503	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93022190C>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.139C>T	14.37:g.93022190C>T	ENSP00000216487:p.Arg47Cys						p.R47C	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			2	298	+		all_cancers(154;0.0701)	47					Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.139C>T	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259225	0.23051	2.27E-4	0.0	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.07688	3.17	4.9	3.99	0.46301	.	1.091330	0.07270	N	0.868946	T	0.07908	0.0198	N	0.19112	0.55	0.28290	N	0.923574	B	0.15473	0.013	B	0.04013	0.001	T	0.24728	-1.0152	10	0.72032	D	0.01	-1.4603	11.473	0.50280	0.0:0.9111:0.0:0.0889	.	47	Q8TB24	RIN3_HUMAN	C	47	ENSP00000216487:R47C	ENSP00000216487:R47C	R	+	1	0	RIN3	92091943	0.000000	0.05858	0.002000	0.10522	0.260000	0.26232	0.627000	0.24506	1.347000	0.45714	0.655000	0.94253	CGC		0.587	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			15	25	0	0	0	1	0	15	25				
BCL9	607	broad.mit.edu	37	1	147090766	147090766	+	Missense_Mutation	SNP	G	G	A	rs587637107		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:147090766G>A	ENST00000234739.3	+	8	1545	c.805G>A	c.(805-807)Gca>Aca	p.A269T		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	269	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CAAGCCTGCCGCACCCCCACG	0.607			T	"""IGH@, IGL@"""	B-ALL								G|||	1	0.000199681	0.0	0.0	5008	,	,		14685	0.0		0.0	False		,,,				2504	0.001					ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(805-807)Gca>Aca		B-cell CLL/lymphoma 9							53.0	56.0	55.0					1																	147090766		2202	4300	6502	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147090766G>A	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.805G>A	1.37:g.147090766G>A	ENSP00000234739:p.Ala269Thr						p.A269T	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	1545	+	all_hematologic(923;0.115)		269			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.805G>A	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382392	0.42207	.	.	ENSG00000116128	ENST00000234739	T	0.64438	-0.1	5.65	4.73	0.59995	.	0.478403	0.24922	N	0.034523	T	0.20414	0.0491	N	0.14661	0.345	0.09310	N	1	B;B	0.16603	0.018;0.018	B;B	0.06405	0.002;0.002	T	0.08452	-1.0721	10	0.15499	T	0.54	-1.4929	10.0703	0.42328	0.0712:0.1375:0.7913:0.0	.	269;269	Q1JQ81;O00512	.;BCL9_HUMAN	T	269	ENSP00000234739:A269T	ENSP00000234739:A269T	A	+	1	0	BCL9	145557390	0.999000	0.42202	0.090000	0.20809	0.989000	0.77384	4.026000	0.57232	1.620000	0.50308	0.655000	0.94253	GCA		0.607	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		29	63	0	0	0	1	0	29	63				
PDZRN3	23024	broad.mit.edu	37	3	73433999	73433999	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:73433999C>T	ENST00000263666.4	-	10	1832	c.1718G>A	c.(1717-1719)cGg>cAg	p.R573Q	PDZRN3_ENST00000535920.1_Missense_Mutation_p.R295Q|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R230Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R290Q|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R230Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	573					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTCGTCGGTCCGCCCCACACC	0.597																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1717-1719)cGg>cAg		PDZ domain containing ring finger 3							80.0	72.0	75.0					3																	73433999		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433999C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1718G>A	3.37:g.73433999C>T	ENSP00000263666:p.Arg573Gln					PDZRN3_ENST00000462146.2_Missense_Mutation_p.R230Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R290Q|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R295Q|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R230Q	p.R573Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	1832	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	573					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1718G>A	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.624814|4.624814	0.87560|0.87560	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	.|T;T;T;T;T;T	.|0.14022	.|2.54;3.24;3.14;3.14;3.25;3.21	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|0.186649	.|0.47852	.|D	.|0.000218	T|T	0.39226|0.39226	0.1070|0.1070	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;0.995;0.999;1.0	.|D;P;D;P	.|0.71656	.|0.974;0.539;0.942;0.85	T|T	0.25047|0.25047	-1.0143|-1.0143	5|10	.|0.52906	.|T	.|0.07	.|.	17.5919|17.5919	0.87999|0.87999	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|295;290;290;573	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	R|Q	170|573;295;230;230;290;573;271	.|ENSP00000263666:R573Q;ENSP00000442026:R295Q;ENSP00000418168:R230Q;ENSP00000418484:R230Q;ENSP00000418624:R290Q;ENSP00000419250:R271Q	.|ENSP00000263666:R573Q	G|R	-|-	1|2	0|0	PDZRN3|PDZRN3	73516689|73516689	1.000000|1.000000	0.71417|0.71417	0.863000|0.863000	0.33907|0.33907	0.969000|0.969000	0.65631|0.65631	7.468000|7.468000	0.80943|0.80943	2.464000|2.464000	0.83262|0.83262	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.597	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		12	19	0	0	0	1	0	12	19				
JADE3	9767	broad.mit.edu	37	X	46887491	46887491	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:46887491G>A	ENST00000218343.4	+	6	971	c.673G>A	c.(673-675)Gtc>Atc	p.V225I	PHF16_ENST00000397189.1_Missense_Mutation_p.V225I	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TAAGTGTAACGTCTGTGTGCA	0.488													G|||	1	0.000264901	0.0008	0.0	3775	,	,		15583	0.0		0.0	False		,,,				2504	0.0					ENST00000218343.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						c.(673-675)Gtc>Atc									362.0	217.0	267.0					X																	46887491		2203	4300	6503	SO:0001583	missense	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46887491G>A																												ENST00000218343.4:c.673G>A	X.37:g.46887491G>A	ENSP00000218343:p.Val225Ile					PHF16_ENST00000397189.1_Missense_Mutation_p.V225I	p.V225I	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN			6	971	+			225						Missense_Mutation	SNP	ENST00000218343.4	37	c.673G>A	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	5.002	0.186131	0.09495	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	D;D	0.87491	-2.26;-2.26	5.78	0.725	0.18242	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.092186	0.64402	N	0.000001	T	0.68192	0.2974	N	0.04148	-0.265	0.27040	N	0.964034	B	0.06786	0.001	B	0.10450	0.005	T	0.53851	-0.8380	9	.	.	.	.	9.5355	0.39220	0.745:0.0:0.255:0.0	.	225	Q92613	JADE3_HUMAN	I	225	ENSP00000380373:V225I;ENSP00000218343:V225I	.	V	+	1	0	PHF16	46772435	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	1.012000	0.29924	-0.227000	0.09884	-0.198000	0.12761	GTC		0.488	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			21	4	0	0	0	1	0	21	4				
C7orf60	154743	broad.mit.edu	37	7	112579785	112579785	+	Silent	SNP	G	G	A	rs573341242	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:112579785G>A	ENST00000297145.4	-	1	186	c.21C>T	c.(19-21)ggC>ggT	p.G7G	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	7							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CAGTATTTCGGCCGCCGGCCC	0.726													G|||	4	0.000798722	0.0	0.0	5008	,	,		8686	0.0		0.0	False		,,,				2504	0.0041					ENST00000297145.4																			0				breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(19-21)ggC>ggT		chromosome 7 open reading frame 60							11.0	13.0	12.0					7																	112579785		1809	4036	5845	SO:0001819	synonymous_variant	154743							g.chr7:112579785G>A		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.21C>T	7.37:g.112579785G>A							p.G7G	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN			1	186	-			7					Q8N3D0|Q96MV7	Silent	SNP	ENST00000297145.4	37	c.21C>T	CCDS43634.1																																																																																				0.726	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		6	9	0	0	0	1	0	6	9				
OVOL2	58495	broad.mit.edu	37	20	18005394	18005394	+	Silent	SNP	C	C	T	rs376394167		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr20:18005394C>T	ENST00000278780.6	-	4	956	c.714G>A	c.(712-714)ccG>ccA	p.P238P	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	238					angiogenesis (GO:0001525)|dorsal/ventral pattern formation (GO:0009953)|embryonic digestive tract morphogenesis (GO:0048557)|endocardium formation (GO:0060214)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of keratinocyte proliferation (GO:0010837)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ACGAGCTGCCCGGATGGGCAC	0.582																																						ENST00000278780.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						c.(712-714)ccG>ccA		ovo-like zinc finger 2		C		0,4406		0,0,2203	90.0	82.0	85.0		714	-5.9	0.9	20		85	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OVOL2	NM_021220.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		238/276	18005394	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	58495				negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:18005394C>T	AK022284	CCDS13132.1	20p11.23	2013-10-17	2013-10-17	2005-05-31	ENSG00000125850	ENSG00000125850		"""Zinc fingers, C2H2-type"""	15804	protein-coding gene	gene with protein product			"""zinc finger protein 339"", ""ovo-like 2 (Drosophila)"""	ZNF339			Standard	NM_021220		Approved	bA504H3.3, HOVO2	uc002wqi.1	Q9BRP0	OTTHUMG00000031960	ENST00000278780.6:c.714G>A	20.37:g.18005394C>T						OVOL2_ENST00000483661.1_5'UTR	p.P238P	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN			4	956	-			238					Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0	Silent	SNP	ENST00000278780.6	37	c.714G>A	CCDS13132.1																																																																																				0.582	OVOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078148.5	NM_021220		11	24	0	0	0	1	0	11	24				
PDZD2	23037	broad.mit.edu	37	5	32090466	32090466	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:32090466G>A	ENST00000438447.1	+	20	7300	c.6912G>A	c.(6910-6912)acG>acA	p.T2304T	PDZD2_ENST00000282493.3_Silent_p.T2304T			O15018	PDZD2_HUMAN	PDZ domain containing 2	2304					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCCAGGAGACGAGCTGCCTAG	0.483																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6910-6912)acG>acA		PDZ domain containing 2							99.0	100.0	100.0					5																	32090466		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090466G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6912G>A	5.37:g.32090466G>A						PDZD2_ENST00000282493.3_Silent_p.T2304T	p.T2304T			O15018	PDZD2_HUMAN			20	7300	+			2304					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.6912G>A	CCDS34137.1																																																																																				0.483	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			6	94	0	0	0	1	0	6	94				
PRAMEF22	653606	broad.mit.edu	37	1	13036655	13036655	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:13036655G>A	ENST00000376187.1	+	2	727	c.727G>A	c.(727-729)Gat>Aat	p.D243N	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	243					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						CTTCATCTCCGATGGCTGTCG	0.478																																						ENST00000376187.1																			0				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(727-729)Gat>Aat		PRAME family member 22							70.0	89.0	82.0					1																	13036655		2193	4289	6482	SO:0001583	missense	653606							g.chr1:13036655G>A			1p36.21	2013-01-17			ENSG00000204508			"""-"""	34393	protein-coding gene	gene with protein product							Standard	NM_001100631		Approved	PRAMEF3L	uc009vnq.1	A3QJZ6	OTTHUMG00000074726	ENST00000376187.1:c.727G>A	1.37:g.13036655G>A	ENSP00000365358:p.Asp243Asn					PRAMEF6_ENST00000376192.5_Intron	p.D243N	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN			2	727	+			243					A6NMM3	Missense_Mutation	SNP	ENST00000376187.1	37	c.727G>A	CCDS41256.1	.	.	.	.	.	.	.	.	.	.	.	3.175	-0.169119	0.06461	.	.	ENSG00000204508	ENST00000376187	T	0.15017	2.46	0.869	-0.303	0.12792	.	1.674560	0.03090	N	0.159663	T	0.06050	0.0157	N	0.05383	-0.06	0.09310	N	1	P	0.44816	0.844	B	0.32211	0.142	T	0.17684	-1.0361	10	0.13853	T	0.58	.	3.1079	0.06348	0.3724:0.0:0.6276:0.0	.	243	A3QJZ6	PRA22_HUMAN	N	243	ENSP00000365358:D243N	ENSP00000365358:D243N	D	+	1	0	PRAMEF22	12959242	0.000000	0.05858	0.005000	0.12908	0.082000	0.17680	-1.846000	0.01676	-0.100000	0.12241	0.173000	0.16961	GAT		0.478	PRAMEF22-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158511.1	NM_001100631		5	88	0	0	0	1	0	5	88				
CD81-AS1	101927682	broad.mit.edu	37	11	2356903	2356903	+	RNA	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:2356903C>T	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							GATCTTCCTGCGCACGTGTGA	0.562																																						ENST00000413483.1																			0																				205.0	176.0	186.0					11																	2356903		2202	4299	6501			0							g.chr11:2356903C>T																													11.37:g.2356903C>T						RPL26P30_ENST00000602923.1_RNA								0	407	-									RNA	SNP	ENST00000413483.1	37																																																																																						0.562	AC129929.5-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000143277.1			28	98	0	0	0	1	0	28	98				
SEMA4B	10509	broad.mit.edu	37	15	90763060	90763060	+	Silent	SNP	G	G	A	rs562838911	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:90763060G>A	ENST00000411539.2	+	4	680	c.420G>A	c.(418-420)ccG>ccA	p.P140P	SEMA4B_ENST00000379122.3_Silent_p.P135P|SEMA4B_ENST00000332496.6_Silent_p.P140P	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	135	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCCTCCTGCCGCTCAGCGGCA	0.622											OREG0023468	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	7	0.00139776	0.0	0.0	5008	,	,		15614	0.0		0.0	False		,,,				2504	0.0072					ENST00000411539.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12						c.(418-420)ccG>ccA		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B							56.0	57.0	57.0					15																	90763060		1949	4140	6089	SO:0001819	synonymous_variant	10509							g.chr15:90763060G>A	AB051532	CCDS45347.1	15q25	2008-07-18						"""Semaphorins"""	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.420G>A	15.37:g.90763060G>A			OREG0023468	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1277	SEMA4B_ENST00000379122.3_Silent_p.P135P|SEMA4B_ENST00000332496.6_Silent_p.P140P	p.P140P	NM_198925.2	NP_945119.1			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		4	680	+	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)							Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Silent	SNP	ENST00000411539.2	37	c.420G>A	CCDS45347.1																																																																																				0.622	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416810.1	NM_198925		17	17	0	0	0	1	0	17	17				
TET1	80312	broad.mit.edu	37	10	70451231	70451231	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:70451231G>A	ENST00000373644.4	+	12	6280	c.6071G>A	c.(6070-6072)cGg>cAg	p.R2024Q		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2024					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.R2024Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAGTGTGCCCGGCGAGAGCTG	0.522																																						ENST00000373644.4																			1	Substitution - Missense(1)	p.R2024Q(1)	large_intestine(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(6070-6072)cGg>cAg		tet methylcytosine dioxygenase 1							96.0	90.0	92.0					10																	70451231		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70451231G>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.6071G>A	10.37:g.70451231G>A	ENSP00000362748:p.Arg2024Gln						p.R2024Q	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			12	6280	+			2024					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.6071G>A	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053723	0.75960	.	.	ENSG00000138336	ENST00000373644	T	0.12465	2.68	5.6	5.6	0.85130	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.296167	0.30781	N	0.008893	T	0.35828	0.0945	M	0.72894	2.215	0.32793	N	0.500866	D	0.76494	0.999	D	0.79108	0.992	T	0.45702	-0.9243	10	0.72032	D	0.01	.	13.2315	0.59947	0.0729:0.0:0.9271:0.0	.	2024	Q8NFU7	TET1_HUMAN	Q	2024	ENSP00000362748:R2024Q	ENSP00000362748:R2024Q	R	+	2	0	TET1	70121237	1.000000	0.71417	0.950000	0.38849	0.329000	0.28539	7.596000	0.82721	2.806000	0.96561	0.655000	0.94253	CGG		0.522	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		32	56	0	0	0	1	0	32	56				
GAL3ST1	9514	broad.mit.edu	37	22	30951602	30951602	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr22:30951602A>G	ENST00000402321.1	-	3	927	c.610T>C	c.(610-612)Tac>Cac	p.Y204H	GAL3ST1_ENST00000406955.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.Y204H			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	204					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TTGGGGTCGTAGTAGCGATCC	0.627																																						ENST00000402321.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(610-612)Tac>Cac		galactose-3-O-sulfotransferase 1							80.0	69.0	73.0					22																	30951602		2203	4297	6500	SO:0001583	missense	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951602A>G	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.610T>C	22.37:g.30951602A>G	ENSP00000385735:p.Tyr204His					GAL3ST1_ENST00000406361.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.Y204H	p.Y204H			Q99999	G3ST1_HUMAN			3	927	-			204					Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	c.610T>C	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.257977	0.59321	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827	T;T;T;T;T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72	5.25	5.25	0.73442	.	0.054893	0.85682	D	0.000000	T	0.35393	0.0930	M	0.72894	2.215	0.80722	D	1	P	0.35033	0.481	B	0.40038	0.317	T	0.17018	-1.0383	10	0.48119	T	0.1	-10.3438	14.7721	0.69688	1.0:0.0:0.0:0.0	.	204	Q99999	G3ST1_HUMAN	H	204;204;204;204;204;204;204;204;205;204	ENSP00000385825:Y204H;ENSP00000385735:Y204H;ENSP00000384122:Y204H;ENSP00000384388:Y204H;ENSP00000343234:Y204H;ENSP00000385207:Y204H;ENSP00000402587:Y204H;ENSP00000390545:Y204H;ENSP00000395080:Y205H;ENSP00000405017:Y204H	ENSP00000343234:Y204H	Y	-	1	0	GAL3ST1	29281602	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.232000	0.95325	1.987000	0.57996	0.397000	0.26171	TAC		0.627	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		6	67	0	0	0	1	0	6	67				
CCT3	7203	broad.mit.edu	37	1	156288708	156288708	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:156288708C>T	ENST00000295688.3	-	8	990	c.710G>A	c.(709-711)cGc>cAc	p.R237H	CCT3_ENST00000368261.3_Missense_Mutation_p.R192H|CCT3_ENST00000368259.2_Missense_Mutation_p.R199H|CCT3_ENST00000472765.2_Missense_Mutation_p.R192H	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	237					'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)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CAGCACAATGCGAGGGTTCTT	0.463																																						ENST00000295688.3																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(709-711)cGc>cAc		chaperonin containing TCP1, subunit 3 (gamma)							90.0	84.0	86.0					1																	156288708		2203	4300	6503	SO:0001583	missense	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156288708C>T	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.710G>A	1.37:g.156288708C>T	ENSP00000295688:p.Arg237His					CCT3_ENST00000368259.2_Missense_Mutation_p.R199H|CCT3_ENST00000368261.3_Missense_Mutation_p.R192H|CCT3_ENST00000472765.2_Missense_Mutation_p.R192H	p.R237H	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN			8	990	-	Hepatocellular(266;0.158)		237					A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	ENST00000295688.3	37	c.710G>A	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057569	0.76074	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765;ENST00000413555	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	5.94	5.04	0.67666	.	0.059794	0.64402	D	0.000010	D	0.82967	0.5152	H	0.95982	3.75	0.51482	D	0.999924	D;D;P	0.89917	1.0;1.0;0.927	D;D;P	0.70487	0.961;0.969;0.59	D	0.87752	0.2592	10	0.87932	D	0	-4.9147	11.0891	0.48104	0.0:0.9156:0.0:0.0844	.	199;236;237	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	H	237;199;192;192;261	ENSP00000295688:R237H;ENSP00000357242:R199H;ENSP00000357244:R192H;ENSP00000431543:R192H;ENSP00000413308:R261H	ENSP00000295688:R237H	R	-	2	0	CCT3	154555332	1.000000	0.71417	0.935000	0.37517	0.284000	0.27059	7.458000	0.80787	1.532000	0.49169	0.643000	0.83706	CGC		0.463	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		16	34	0	0	0	1	0	16	34				
FOXG1	2290	broad.mit.edu	37	14	29237390	29237390	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:29237390G>A	ENST00000313071.4	+	1	1104	c.905G>A	c.(904-906)cGc>cAc	p.R302H	RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.R302H|RP11-966I7.1_ENST00000551395.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	302				RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038). {ECO:0000305}.	aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TTCATGGACCGCGCCGGCTCC	0.701																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(904-906)cGc>cAc		forkhead box G1							45.0	55.0	52.0					14																	29237390		2203	4299	6502	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237390G>A		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.905G>A	14.37:g.29237390G>A	ENSP00000339004:p.Arg302His					FOXG1_ENST00000313071.4_Missense_Mutation_p.R302H	p.R302H			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	1274	+			302	RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038).				A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.905G>A	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123284	0.77436	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93604	-3.25;-3.25	4.19	4.19	0.49359	.	0.068043	0.56097	U	0.000027	D	0.91925	0.7443	L	0.27053	0.805	0.58432	D	0.999998	D	0.71674	0.998	P	0.53450	0.726	D	0.92575	0.6069	10	0.49607	T	0.09	.	16.0962	0.81127	0.0:0.0:1.0:0.0	.	302	P55316	FOXG1_HUMAN	H	302	ENSP00000371975:R302H;ENSP00000339004:R302H	ENSP00000339004:R302H	R	+	2	0	FOXG1	28307141	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.851000	0.86920	1.868000	0.54150	0.313000	0.20887	CGC		0.701	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			23	55	0	0	0	1	0	23	55				
NAT6	24142	broad.mit.edu	37	3	50334626	50334626	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:50334626C>T	ENST00000443842.1	-	2	1076	c.269G>A	c.(268-270)cGc>cAc	p.R90H	HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000443094.2_Missense_Mutation_p.R90H|HYAL3_ENST00000415204.1_Intron|NAT6_ENST00000417393.1_Missense_Mutation_p.R90H|NAT6_ENST00000354862.4_Missense_Mutation_p.R112H			Q93015	NAT6_HUMAN	N-acetyltransferase 6 (GCN5-related)	90	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)	N-acetyltransferase activity (GO:0008080)			endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGAGTGCAGGCGGGAGGTGCG	0.647																																						ENST00000443842.1																			0				endometrium(3)|lung(1)|skin(1)	5						c.(268-270)cGc>cAc		N-acetyltransferase 6 (GCN5-related)							31.0	41.0	38.0					3																	50334626		2117	4215	6332	SO:0001583	missense	24142							g.chr3:50334626C>T	AF040705	CCDS43095.1, CCDS56258.1	3p21.3	2011-11-16	2008-09-24		ENSG00000243477	ENSG00000243477	2.3.1.-		30252	protein-coding gene	gene with protein product		607073	"""N-acetyltransferase 6"""			11929860, 11085536	Standard	NM_012191		Approved	FUS2		Q93015	OTTHUMG00000156939	ENST00000443842.1:c.269G>A	3.37:g.50334626C>T	ENSP00000400559:p.Arg90His					HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000336307.1_Intron|NAT6_ENST00000417393.1_Missense_Mutation_p.R90H|NAT6_ENST00000354862.4_Missense_Mutation_p.R112H|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000443094.2_Missense_Mutation_p.R90H	p.R90H						BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	2	1076	-								Q93014	Missense_Mutation	SNP	ENST00000443842.1	37	c.269G>A	CCDS56258.1	.	.	.	.	.	.	.	.	.	.	C	33	5.260556	0.95368	.	.	ENSG00000243477	ENST00000354862;ENST00000417393;ENST00000443094;ENST00000443842	.	.	.	5.48	5.48	0.80851	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.56097	U	0.000039	T	0.79423	0.4443	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.81529	-0.0891	9	0.87932	D	0	-15.7482	16.8484	0.85987	0.0:1.0:0.0:0.0	.	112;90	Q93015-2;Q93015	.;NAT6_HUMAN	H	112;90;90;90	.	ENSP00000346927:R112H	R	-	2	0	NAT6	50309630	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	7.396000	0.79891	2.581000	0.87130	0.655000	0.94253	CGC		0.647	NAT6-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346681.1	NM_012191		4	44	0	0	0	1	0	4	44				
GIMAP8	155038	broad.mit.edu	37	7	150174667	150174667	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:150174667T>G	ENST00000307271.3	+	5	2371	c.1797T>G	c.(1795-1797)tgT>tgG	p.C599W		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	599	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GGCGAGTTTGTGCTTTTAACA	0.473																																						ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(1795-1797)tgT>tgG		GTPase, IMAP family member 8							76.0	89.0	84.0					7																	150174667		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150174667T>G	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1797T>G	7.37:g.150174667T>G	ENSP00000305107:p.Cys599Trp						p.C599W	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	5	2371	+			599						Missense_Mutation	SNP	ENST00000307271.3	37	c.1797T>G	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.513692	0.27123	.	.	ENSG00000171115	ENST00000307271	T	0.06687	3.27	4.44	1.99	0.26369	AIG1 (1);	0.139018	0.33650	N	0.004694	T	0.13884	0.0336	M	0.89095	3.005	0.46609	D	0.999123	B	0.34399	0.452	B	0.36766	0.232	T	0.01363	-1.1374	10	0.72032	D	0.01	.	4.0846	0.09942	0.0:0.1102:0.2124:0.6775	.	599	Q8ND71	GIMA8_HUMAN	W	599	ENSP00000305107:C599W	ENSP00000305107:C599W	C	+	3	2	GIMAP8	149805600	0.996000	0.38824	0.540000	0.28089	0.014000	0.08584	0.318000	0.19504	0.241000	0.21283	0.533000	0.62120	TGT		0.473	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		27	55	0	0	0	1	0	27	55				
OR5M11	219487	broad.mit.edu	37	11	56310191	56310191	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:56310191C>T	ENST00000528616.2	-	1	566	c.543G>A	c.(541-543)ccG>ccA	p.P181P		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TAATGAGCGGCGGGTCAGCAC	0.498																																						ENST00000528616.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(541-543)ccG>ccA		olfactory receptor, family 5, subfamily M, member 11							46.0	48.0	47.0					11																	56310191		2066	4218	6284	SO:0001819	synonymous_variant	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310191C>T	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.543G>A	11.37:g.56310191C>T							p.P181P	NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN			1	566	-			181					B2RNL5|B2RNL7	Silent	SNP	ENST00000528616.2	37	c.543G>A	CCDS53629.1																																																																																				0.498	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		6	32	0	0	0	1	0	6	32				
MDGA2	161357	broad.mit.edu	37	14	47504410	47504410	+	Silent	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:47504410T>C	ENST00000399232.2	-	8	1780	c.1416A>G	c.(1414-1416)aaA>aaG	p.K472K	MDGA2_ENST00000439988.3_Silent_p.K541K|MDGA2_ENST00000357362.3_Silent_p.K243K|MDGA2_ENST00000426342.1_Silent_p.K243K	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	472	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGATGATTGGTTTAGGTTTGC	0.418																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(727-729)aaA>aaG		MAM domain containing glycosylphosphatidylinositol anchor 2							240.0	212.0	221.0					14																	47504410		1940	4156	6096	SO:0001819	synonymous_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47504410T>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1416A>G	14.37:g.47504410T>C						MDGA2_ENST00000439988.2_Silent_p.K472K|MDGA2_ENST00000399232.2_Silent_p.K541K|MDGA2_ENST00000357362.3_Silent_p.K243K	p.K243K	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			8	1475	-			472			Ig-like 3.		F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37	c.729A>G		.	.	.	.	.	.	.	.	.	.	T	6.835	0.523181	0.13066	.	.	ENSG00000139915	ENST00000554762	.	.	.	5.52	1.88	0.25563	.	.	.	.	.	T	0.57125	0.2032	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47824	-0.9087	4	.	.	.	.	8.4139	0.32659	0.0:0.4046:0.0:0.5954	.	.	.	.	A	247	.	.	T	-	1	0	MDGA2	46574160	0.946000	0.32159	0.999000	0.59377	0.988000	0.76386	0.082000	0.14847	0.083000	0.17047	0.402000	0.26972	ACC		0.418	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		6	121	0	0	0	1	0	6	121				
CLSTN1	22883	broad.mit.edu	37	1	9811693	9811693	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:9811693C>T	ENST00000377298.4	-	5	1279	c.487G>A	c.(487-489)Gtg>Atg	p.V163M	CLSTN1_ENST00000361311.4_Missense_Mutation_p.V153M|CLSTN1_ENST00000377288.3_Missense_Mutation_p.V163M	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	163	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTTGAACACGGGCGCGTAC	0.507																																						ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(487-489)Gtg>Atg		calsyntenin 1							97.0	86.0	90.0					1																	9811693		2203	4300	6503	SO:0001583	missense	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9811693C>T	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.487G>A	1.37:g.9811693C>T	ENSP00000366513:p.Val163Met					CLSTN1_ENST00000361311.4_Missense_Mutation_p.V153M|CLSTN1_ENST00000377288.3_Missense_Mutation_p.V163M	p.V163M	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	5	1279	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	163			Cadherin 1.		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	c.487G>A	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746320	0.69418	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000377288;ENST00000539822	T;T;T	0.47177	0.85;0.85;0.85	5.91	2.57	0.30868	Cadherin (3);Cadherin-like (1);	0.295967	0.36778	N	0.002420	T	0.54224	0.1845	M	0.85859	2.78	0.52099	D	0.999941	D;D;D	0.58268	0.969;0.982;0.969	B;P;B	0.46299	0.313;0.511;0.313	T	0.61969	-0.6953	10	0.62326	D	0.03	-26.1551	10.1466	0.42767	0.0:0.7413:0.1173:0.1413	.	163;153;163	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	M	163;153;163;163	ENSP00000366513:V163M;ENSP00000354997:V153M;ENSP00000366502:V163M	ENSP00000354997:V153M	V	-	1	0	CLSTN1	9734280	0.995000	0.38212	0.698000	0.30274	0.922000	0.55478	3.293000	0.51779	0.820000	0.34516	0.655000	0.94253	GTG		0.507	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			10	40	0	0	0	1	0	10	40				
HCFC2	29915	broad.mit.edu	37	12	104474531	104474531	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:104474531G>C	ENST00000229330.4	+	5	794	c.690G>C	c.(688-690)atG>atC	p.M230I		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	230					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TAGAAACTATGTCATGGTCAA	0.323																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(688-690)atG>atC		host cell factor C2							80.0	80.0	80.0					12																	104474531		2202	4300	6502	SO:0001583	missense	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104474531G>C	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.690G>C	12.37:g.104474531G>C	ENSP00000229330:p.Met230Ile						p.M230I	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN			5	794	+			230					B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	c.690G>C	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434936	0.83885	.	.	ENSG00000111727	ENST00000229330	T	0.42513	0.97	5.75	4.85	0.62838	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	M	0.91972	3.26	0.52099	D	0.999947	B	0.29232	0.238	B	0.29267	0.1	T	0.54344	-0.8308	10	0.22706	T	0.39	-19.2496	15.175	0.72903	0.0685:0.0:0.9315:0.0	.	230	Q9Y5Z7	HCFC2_HUMAN	I	230	ENSP00000229330:M230I	ENSP00000229330:M230I	M	+	3	0	HCFC2	102998661	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.348000	0.79366	2.725000	0.93324	0.655000	0.94253	ATG		0.323	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		15	17	0	0	0	1	0	15	17				
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1				BMS1 pseudogene 20																		ATAAAGTATATGATTTTGTGT	0.348													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		19780	0.0		0.0	False		,,,				2504	0.0					ENST00000426066.1																			0																																																			0							g.chr22:22664056T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664056T>C								NR_027293.1						0	623	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.348	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	40	0	0	0	1	0	4	40				
LMTK3	114783	broad.mit.edu	37	19	49012151	49012151	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:49012151G>T	ENST00000600059.1	-	5	741	c.514C>A	c.(514-516)Ccc>Acc	p.P172T	LMTK3_ENST00000270238.3_Missense_Mutation_p.P201T			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TGCTCCAGGGGCCCCGCGCTG	0.597																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(514-516)Ccc>Acc		lemur tyrosine kinase 3							70.0	81.0	77.0					19																	49012151		2141	4262	6403	SO:0001583	missense	114783							g.chr19:49012151G>T	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.514C>A	19.37:g.49012151G>T	ENSP00000472020:p.Pro172Thr					LMTK3_ENST00000270238.3_Missense_Mutation_p.P201T	p.P172T						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	5	741	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37	c.514C>A		.	.	.	.	.	.	.	.	.	.	G	16.00	2.997372	0.54147	.	.	ENSG00000142235	ENST00000270238	D	0.82081	-1.57	4.01	2.94	0.34122	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000008	T	0.80737	0.4680	N	0.20881	0.62	0.46149	D	0.998895	D	0.64830	0.994	P	0.58266	0.836	T	0.78097	-0.2337	10	0.33141	T	0.24	.	12.0344	0.53417	0.0:0.1766:0.8234:0.0	.	172	Q96Q04	LMTK3_HUMAN	T	201	ENSP00000270238:P201T	ENSP00000270238:P201T	P	-	1	0	LMTK3	53703963	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.473000	0.53122	0.956000	0.37904	0.561000	0.74099	CCC		0.597	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		19	32	1	0	1.37522e-17	1	1.49226e-17	19	32				
C15orf56	644809	broad.mit.edu	37	15	40544701	40544701	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:40544701C>T	ENST00000319503.3	-	2	292	c.271G>A	c.(271-273)Gcg>Acg	p.A91T	PAK6_ENST00000260404.4_Intron|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000542403.2_5'Flank|PAK6_ENST00000560346.1_Intron|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000441369.1_Intron|C15orf56_ENST00000559727.1_3'UTR|PAK6_ENST00000455577.2_Intron	NM_001039905.1	NP_001034994.1	Q8N910	CO056_HUMAN	chromosome 15 open reading frame 56	91										lung(1)	1		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)		ACTTCTCCCGCGCTCTGGGTT	0.662																																						ENST00000319503.3																			0				lung(1)	1						c.(271-273)Gcg>Acg		chromosome 15 open reading frame 56							23.0	27.0	26.0					15																	40544701		2203	4300	6503	SO:0001583	missense	644809							g.chr15:40544701C>T		CCDS32197.1	15q15.1	2012-05-30			ENSG00000176753	ENSG00000176753			33868	protein-coding gene	gene with protein product							Standard	NM_001039905		Approved	FLJ38596	uc001zla.2	Q8N910	OTTHUMG00000172399	ENST00000319503.3:c.271G>A	15.37:g.40544701C>T	ENSP00000315794:p.Ala91Thr					RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000260404.4_Intron|PAK6_ENST00000455577.2_Intron|PAK6_ENST00000453867.1_Intron|C15orf56_ENST00000559727.1_3'UTR|PAK6_ENST00000560346.1_Intron	p.A91T	NM_001039905.1	NP_001034994.1	Q8N910	CO056_HUMAN		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)	2	292	-		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	91						Missense_Mutation	SNP	ENST00000319503.3	37	c.271G>A	CCDS32197.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861720	0.51482	.	.	ENSG00000176753	ENST00000319503	T	0.29655	1.56	4.25	3.32	0.38043	.	.	.	.	.	T	0.14917	0.0360	N	0.08118	0	0.20563	N	0.999884	B	0.33904	0.431	B	0.23852	0.049	T	0.12142	-1.0559	9	0.87932	D	0	.	10.2241	0.43214	0.0:0.207:0.793:0.0	.	91	Q8N910	CO056_HUMAN	T	91	ENSP00000315794:A91T	ENSP00000315794:A91T	A	-	1	0	C15orf56	38331993	0.223000	0.23663	0.001000	0.08648	0.178000	0.23041	1.053000	0.30442	1.136000	0.42199	-0.256000	0.11100	GCG		0.662	C15orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418370.2	NM_001039905		5	14	0	0	0	1	0	5	14				
EVPLL	645027	broad.mit.edu	37	17	18286413	18286413	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:18286413G>A	ENST00000399134.4	+	7	944	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	196										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCAGCTGAGCGCCCTGGCGGA	0.726																																						ENST00000399134.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(586-588)Gcc>Acc		envoplakin-like							4.0	9.0	7.0					17																	18286413		637	1497	2134	SO:0001583	missense	645027							g.chr17:18286413G>A		CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.586G>A	17.37:g.18286413G>A	ENSP00000382086:p.Ala196Thr					RP1-37N7.1_ENST00000579352.1_RNA	p.A196T	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN			7	944	+			196					B4DPD4	Missense_Mutation	SNP	ENST00000399134.4	37	c.586G>A	CCDS45626.1	.	.	.	.	.	.	.	.	.	.	.	16.21	3.057501	0.55325	.	.	ENSG00000214860	ENST00000399134	T	0.30448	1.53	0.505	-0.984	0.10259	.	.	.	.	.	T	0.24967	0.0606	N	0.19112	0.55	0.09310	N	1	D	0.64830	0.994	P	0.55508	0.777	T	0.11792	-1.0573	9	0.66056	D	0.02	.	1.4097	0.02288	0.3255:0.0:0.3289:0.3456	.	196	A8MZ36	EVPLL_HUMAN	T	196	ENSP00000382086:A196T	ENSP00000382086:A196T	A	+	1	0	EVPLL	18227138	0.985000	0.35326	0.932000	0.37286	0.281000	0.26958	1.902000	0.39848	-0.323000	0.08602	0.089000	0.15464	GCC		0.726	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130836.2	NM_001145127		3	2	0	0	0	1	0	3	2				
PCMTD2	55251	broad.mit.edu	37	20	62904703	62904703	+	Missense_Mutation	SNP	G	G	A	rs139861996	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr20:62904703G>A	ENST00000308824.6	+	6	963	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	PCMTD2_ENST00000609372.1_Missense_Mutation_p.R129Q|PCMTD2_ENST00000369758.4_Missense_Mutation_p.R252Q|PCMTD2_ENST00000299468.7_Intron|PCMTD2_ENST00000266078.7_3'UTR	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	279	Poly-Arg.					cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGTTTAAACGAAGGAGAGTT	0.473													G|||	4	0.000798722	0.0	0.0	5008	,	,		17784	0.003		0.0	False		,,,				2504	0.001					ENST00000308824.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17						c.(835-837)cGa>cAa		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	84.0	93.0	90.0		755,836	5.4	0.1	20	dbSNP_134	90	1,8599		0,1,4299	yes	missense,missense	PCMTD2	NM_001104925.1,NM_018257.2	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	252/335,279/362	62904703	1,13005	2203	4300	6503	SO:0001583	missense	55251					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr20:62904703G>A	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 36"""	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.836G>A	20.37:g.62904703G>A	ENSP00000307854:p.Arg279Gln					PCMTD2_ENST00000266078.6_Missense_Mutation_p.R55Q|PCMTD2_ENST00000369758.3_Missense_Mutation_p.R252Q|PCMTD2_ENST00000299468.7_Intron	p.R279Q	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN			6	963	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		279			Poly-Arg.		E1P5H3|Q8IW60|Q9H4K2	Missense_Mutation	SNP	ENST00000308824.6	37	c.836G>A	CCDS13559.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	.	25.9	4.688415	0.88639	0.0	1.16E-4	ENSG00000203880	ENST00000369758;ENST00000308824;ENST00000266078	T;T;T	0.57273	0.41;1.29;0.41	5.41	5.41	0.78517	.	0.060169	0.64402	D	0.000003	T	0.56262	0.1973	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.58970	0.981;0.984	P;B	0.49637	0.617;0.413	T	0.66999	-0.5781	10	0.72032	D	0.01	-8.5701	19.2064	0.93732	0.0:0.0:1.0:0.0	.	252;279	Q9NV79-2;Q9NV79	.;PCMD2_HUMAN	Q	252;279;55	ENSP00000358773:R252Q;ENSP00000307854:R279Q;ENSP00000266078:R55Q	ENSP00000266078:R55Q	R	+	2	0	PCMTD2	62375147	0.996000	0.38824	0.119000	0.21687	0.989000	0.77384	5.276000	0.65580	2.523000	0.85059	0.655000	0.94253	CGA		0.473	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1	NM_018257		22	69	0	0	0	1	0	22	69				
GPR112	139378	broad.mit.edu	37	X	135429592	135429592	+	Missense_Mutation	SNP	G	G	A	rs370044190		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:135429592G>A	ENST00000394143.1	+	6	4018	c.3727G>A	c.(3727-3729)Gtg>Atg	p.V1243M	GPR112_ENST00000412101.1_Missense_Mutation_p.V1038M|GPR112_ENST00000394141.1_Missense_Mutation_p.V1038M|GPR112_ENST00000370652.1_Missense_Mutation_p.V1243M|GPR112_ENST00000287534.4_Missense_Mutation_p.V1180M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1243					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACACACACCAGTGTCCATCCA	0.458																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(3727-3729)Gtg>Atg		G protein-coupled receptor 112							226.0	191.0	203.0					X																	135429592		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429592G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3727G>A	X.37:g.135429592G>A	ENSP00000377699:p.Val1243Met					GPR112_ENST00000287534.4_Missense_Mutation_p.V1180M|GPR112_ENST00000412101.1_Missense_Mutation_p.V1038M|GPR112_ENST00000394141.1_Missense_Mutation_p.V1038M|GPR112_ENST00000370652.1_Missense_Mutation_p.V1243M	p.V1243M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	4018	+	Acute lymphoblastic leukemia(192;0.000127)		1243					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.3727G>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	6.224	0.409426	0.11812	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.35973	1.31;1.31;1.28;1.41;1.28	3.05	-0.0882	0.13674	.	.	.	.	.	T	0.18882	0.0453	N	0.19112	0.55	0.09310	N	1	B;B;B	0.24368	0.102;0.012;0.007	B;B;B	0.18871	0.015;0.023;0.01	T	0.21793	-1.0235	9	0.26408	T	0.33	.	5.2108	0.15316	0.4987:0.0:0.5013:0.0	.	1180;1038;1243	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	M	1243;1243;1038;1180;1038	ENSP00000377699:V1243M;ENSP00000359686:V1243M;ENSP00000416526:V1038M;ENSP00000287534:V1180M;ENSP00000377697:V1038M	ENSP00000287534:V1180M	V	+	1	0	GPR112	135257258	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.179000	0.16840	-0.002000	0.14469	-0.523000	0.04350	GTG		0.458	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			7	72	0	0	0	1	0	7	72				
XYLT2	64132	broad.mit.edu	37	17	48437450	48437450	+	Missense_Mutation	SNP	G	G	A	rs150470450		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:48437450G>A	ENST00000017003.2	+	11	2445	c.2396G>A	c.(2395-2397)cGg>cAg	p.R799Q	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	799					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GCTGCCCAGCGGCACACACAG	0.652																																						ENST00000017003.2																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(2395-2397)cGg>cAg		xylosyltransferase II		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	53.0	43.0	46.0		2396	-2.2	0.0	17	dbSNP_134	46	0,8598		0,0,4299	no	missense	XYLT2	NM_022167.2	43	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	799/866	48437450	1,13003	2203	4299	6502	SO:0001583	missense	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48437450G>A	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.2396G>A	17.37:g.48437450G>A	ENSP00000017003:p.Arg799Gln					XYLT2_ENST00000507602.1_Intron	p.R799Q	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN			11	2445	+	Breast(11;7.18e-19)		799					Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	c.2396G>A	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	G	3.087	-0.187756	0.06299	2.27E-4	0.0	ENSG00000015532	ENST00000017003	T	0.04275	3.66	4.99	-2.25	0.06888	.	0.363503	0.28114	N	0.016544	T	0.03651	0.0104	L	0.46157	1.445	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.41662	-0.9496	10	0.22109	T	0.4	-6.5881	5.1842	0.15176	0.3938:0.0:0.3886:0.2176	.	799	Q9H1B5	XYLT2_HUMAN	Q	799	ENSP00000017003:R799Q	ENSP00000017003:R799Q	R	+	2	0	XYLT2	45792449	0.000000	0.05858	0.040000	0.18447	0.006000	0.05464	0.274000	0.18680	-0.558000	0.06118	-0.982000	0.02568	CGG		0.652	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		5	11	0	0	0	1	0	5	11				
DUS1L	64118	broad.mit.edu	37	17	80016030	80016030	+	Silent	SNP	T	T	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:80016030T>G	ENST00000354321.7	-	13	1868	c.1383A>C	c.(1381-1383)ccA>ccC	p.P461P	DUS1L_ENST00000306796.5_Silent_p.P461P			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	461							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AGAAGCCACCTGGTGTTCCAG	0.582																																						ENST00000354321.7																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6						c.(1381-1383)ccA>ccC		dihydrouridine synthase 1-like (S. cerevisiae)							43.0	48.0	46.0					17																	80016030		2202	4298	6500	SO:0001819	synonymous_variant	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80016030T>G		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.1383A>C	17.37:g.80016030T>G						DUS1L_ENST00000306796.5_Silent_p.P461P	p.P461P			Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		13	1868	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		461					A6NHV4|Q96AI3	Silent	SNP	ENST00000354321.7	37	c.1383A>C	CCDS32775.1																																																																																				0.582	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156		12	39	0	0	0	1	0	12	39				
CSE1L	1434	broad.mit.edu	37	20	47706243	47706243	+	Missense_Mutation	SNP	G	G	A	rs376962564		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr20:47706243G>A	ENST00000262982.2	+	19	2264	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	CSE1L_ENST00000396192.3_Missense_Mutation_p.R658H|CSE1L_ENST00000542325.1_Missense_Mutation_p.R497H	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	714					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TTCTTAGAACGCGGTTCAAAC	0.418																																						ENST00000262982.2																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35						c.(2140-2142)cGc>cAc		CSE1 chromosome segregation 1-like (yeast)		G	HIS/ARG	0,4406		0,0,2203	73.0	75.0	74.0		2141	4.8	0.9	20		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	CSE1L	NM_001316.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	714/972	47706243	1,13005	2203	4300	6503	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47706243G>A	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.2141G>A	20.37:g.47706243G>A	ENSP00000262982:p.Arg714His					CSE1L_ENST00000396192.3_Missense_Mutation_p.R658H|CSE1L_ENST00000542325.1_Missense_Mutation_p.R497H	p.R714H	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		19	2264	+			714					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.2141G>A	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772683	0.31411	0.0	1.16E-4	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.53640	0.61;0.61;0.61	5.72	4.76	0.60689	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.147535	0.64402	D	0.000015	T	0.34221	0.0890	L	0.27975	0.815	0.50171	D	0.999855	B;B;B;B;B	0.15141	0.012;0.004;0.003;0.006;0.004	B;B;B;B;B	0.16289	0.002;0.004;0.015;0.008;0.004	T	0.08554	-1.0716	10	0.14252	T	0.57	-9.9472	15.6479	0.77068	0.0689:0.0:0.9311:0.0	.	403;497;658;658;714	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	H	312;714;497;658	ENSP00000262982:R714H;ENSP00000446477:R497H;ENSP00000379495:R658H	ENSP00000262982:R714H	R	+	2	0	CSE1L	47139650	1.000000	0.71417	0.945000	0.38365	0.942000	0.58702	4.946000	0.63576	2.865000	0.98341	0.655000	0.94253	CGC		0.418	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		16	43	0	0	0	1	0	16	43				
DHX34	9704	broad.mit.edu	37	19	47884519	47884519	+	Missense_Mutation	SNP	C	C	T	rs538434908		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:47884519C>T	ENST00000328771.4	+	16	3585	c.3236C>T	c.(3235-3237)aCg>aTg	p.T1079M		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1079					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCGCCCCTCACGCCCCTGGAG	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		15108	0.0		0.0	False		,,,				2504	0.001					ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(3235-3237)aCg>aTg		DEAH (Asp-Glu-Ala-His) box polypeptide 34							56.0	59.0	58.0					19																	47884519		2203	4300	6503	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47884519C>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.3236C>T	19.37:g.47884519C>T	ENSP00000331907:p.Thr1079Met						p.T1079M	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	16	3585	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	1079					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.3236C>T	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432007	0.62844	.	.	ENSG00000134815	ENST00000328771	T	0.03413	3.94	5.25	5.25	0.73442	.	0.000000	0.56097	D	0.000032	T	0.14830	0.0358	L	0.54323	1.7	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	T	0.00120	-1.2030	10	0.72032	D	0.01	-17.372	15.7441	0.77926	0.0:1.0:0.0:0.0	.	1079	Q14147	DHX34_HUMAN	M	1079	ENSP00000331907:T1079M	ENSP00000331907:T1079M	T	+	2	0	DHX34	52576350	1.000000	0.71417	0.594000	0.28785	0.145000	0.21501	6.775000	0.75018	2.446000	0.82766	0.561000	0.74099	ACG		0.672	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		7	42	0	0	0	1	0	7	42				
ZNF777	27153	broad.mit.edu	37	7	149133690	149133690	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:149133690G>A	ENST00000247930.4	-	5	1638	c.1315C>T	c.(1315-1317)Ctg>Ttg	p.L439L		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	439	Glu-rich.				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(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCTGCACCAGCATCTGCTTC	0.657																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(1315-1317)Ctg>Ttg		zinc finger protein 777							51.0	55.0	54.0					7																	149133690		2040	4177	6217	SO:0001819	synonymous_variant	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149133690G>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1315C>T	7.37:g.149133690G>A							p.L439L	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		5	1638	-	Melanoma(164;0.165)		439			Glu-rich.		Q8N2R2|Q8N659	Silent	SNP	ENST00000247930.4	37	c.1315C>T	CCDS43675.1																																																																																				0.657	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		24	51	0	0	0	1	0	24	51				
SLC7A2	6542	broad.mit.edu	37	8	17400870	17400870	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:17400870C>T	ENST00000494857.1	+	3	240	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	SLC7A2_ENST00000470360.1_Silent_p.L48L|SLC7A2_ENST00000398090.3_Silent_p.L48L|SLC7A2_ENST00000522656.1_Silent_p.L8L|SLC7A2_ENST00000004531.10_Silent_p.L48L	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	8					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGAGCCGCGCTGACCTTTGC	0.522																																						ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(142-144)Ctg>Ttg		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						85.0	81.0	82.0					8																	17400870		2203	4300	6503	SO:0001819	synonymous_variant	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17400870C>T	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.22C>T	8.37:g.17400870C>T						SLC7A2_ENST00000494857.1_Silent_p.L8L|SLC7A2_ENST00000522656.1_Silent_p.L8L|SLC7A2_ENST00000398090.3_Silent_p.L48L|SLC7A2_ENST00000004531.10_Silent_p.L48L	p.L48L			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	4	259	+			8					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	37	c.142C>T	CCDS34852.1																																																																																				0.522	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		14	13	0	0	0	1	0	14	13				
SLC14A2	8170	broad.mit.edu	37	18	43248313	43248313	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr18:43248313G>A	ENST00000255226.6	+	15	2723		c.e15-1		SLC14A2_ENST00000589658.1_Splice_Site|SLC14A2_ENST00000586448.1_Splice_Site|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2						transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTCCTGCCAGGTCGGCCATC	0.562																																						ENST00000255226.6																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.e15-1		solute carrier family 14 (urea transporter), member 2							90.0	87.0	88.0					18																	43248313		2203	4300	6503	SO:0001630	splice_region_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43248313G>A	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1908-1G>A	18.37:g.43248313G>A						SLC14A2_ENST00000586448.1_Splice_Site|SLC14A2_ENST00000589658.1_Splice_Site		NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			15	2723	+								A8K8Q7|Q2TBD6|Q96PH5	Splice_Site	SNP	ENST00000255226.6	37		CCDS11924.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413037	0.42817	.	.	ENSG00000132874	ENST00000255226	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1372	0.89623	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC14A2	41502311	1.000000	0.71417	0.935000	0.37517	0.129000	0.20672	8.890000	0.92477	2.503000	0.84419	0.563000	0.77884	.		0.562	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1		Intron	13	21	0	0	0	1	0	13	21				
HYDIN	54768	broad.mit.edu	37	16	70934964	70934964	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:70934964C>T	ENST00000393567.2	-	53	9141	c.8991G>A	c.(8989-8991)ctG>ctA	p.L2997L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2997					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTACAGGTGCAGGCCGTACT	0.547																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(8989-8991)ctG>ctA		HYDIN, axonemal central pair apparatus protein							122.0	120.0	121.0					16																	70934964		1988	4161	6149	SO:0001819	synonymous_variant	54768							g.chr16:70934964C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8991G>A	16.37:g.70934964C>T							p.L2997L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			53	9141	-		Ovarian(137;0.0654)	2997					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.8991G>A	CCDS59269.1																																																																																				0.547	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			18	88	0	0	0	1	0	18	88				
SMPDL3B	27293	broad.mit.edu	37	1	28285052	28285052	+	Silent	SNP	C	C	T	rs373190969		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:28285052C>T	ENST00000373894.3	+	8	1262	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	SMPDL3B_ENST00000549094.1_Silent_p.L309L|RP11-460I13.2_ENST00000448015.1_RNA|XKR8_ENST00000373884.5_5'Flank	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	357					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GCTGGGAGCTCGAGTACCAGC	0.637																																						ENST00000373894.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16						c.(1069-1071)ctC>ctT		sphingomyelin phosphodiesterase, acid-like 3B		C		0,4406		0,0,2203	49.0	53.0	52.0		1071	-5.9	0.9	1		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SMPDL3B	NM_014474.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		357/456	28285052	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27293				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr1:28285052C>T	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.1071C>T	1.37:g.28285052C>T						RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Silent_p.L309L	p.L357L	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)	8	1262	+		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	357					B7ZB35|Q5T0Z0|Q96CB7	Silent	SNP	ENST00000373894.3	37	c.1071C>T	CCDS30655.1																																																																																				0.637	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		9	34	0	0	0	1	0	9	34				
OSBPL10	114884	broad.mit.edu	37	3	31705656	31705656	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:31705656C>T	ENST00000396556.2	-	11	2287	c.2165G>A	c.(2164-2166)cGg>cAg	p.R722Q	OSBPL10_ENST00000438237.2_Missense_Mutation_p.R658Q	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	722					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CTCCAGGTGCCGCTTCTGCTC	0.602																																						ENST00000396556.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(2164-2166)cGg>cAg		oxysterol binding protein-like 10							112.0	102.0	106.0					3																	31705656		2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31705656C>T	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.2165G>A	3.37:g.31705656C>T	ENSP00000379804:p.Arg722Gln					OSBPL10_ENST00000438237.2_Missense_Mutation_p.R658Q	p.R722Q	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	11	2287	-			722					B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.2165G>A	CCDS2651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.00|19.00	3.741318|3.741318	0.69304|0.69304	.|.	.|.	ENSG00000144645|ENSG00000144645	ENST00000429492|ENST00000396556;ENST00000438237	.|T;T	.|0.27557	.|1.66;1.66	5.25|5.25	4.36|4.36	0.52297|0.52297	.|.	.|0.051590	.|0.85682	.|D	.|0.000000	T|T	0.21631|0.21631	0.0521|0.0521	N|N	0.17901|0.17901	0.54|0.54	0.37026|0.37026	D|D	0.89644|0.89644	.|D;B;P	.|0.58970	.|0.984;0.209;0.882	.|P;B;P	.|0.49597	.|0.616;0.049;0.523	T|T	0.03750|0.03750	-1.1007|-1.1007	5|10	.|0.10902	.|T	.|0.67	-24.6464|-24.6464	7.999|7.999	0.30286|0.30286	0.0:0.7756:0.0:0.2244|0.0:0.7756:0.0:0.2244	.|.	.|658;722;490	.|B4E212;Q9BXB5;Q59ED9	.|.;OSB10_HUMAN;.	S|Q	491|722;658	.|ENSP00000379804:R722Q;ENSP00000406124:R658Q	.|ENSP00000379804:R722Q	G|R	-|-	1|2	0|0	OSBPL10|OSBPL10	31680660|31680660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.824000|4.824000	0.62701|0.62701	2.635000|2.635000	0.89317|0.89317	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.602	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			6	66	0	0	0	1	0	6	66				
RHBDF2	79651	broad.mit.edu	37	17	74467835	74467835	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:74467835G>A	ENST00000313080.4	-	19	2724	c.2451C>T	c.(2449-2451)gcC>gcT	p.A817A	RHBDF2_ENST00000389760.4_Silent_p.A788A|RHBDF2_ENST00000591885.1_Silent_p.A788A	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	817					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GCACGAGGGCGGCGAAGAGGC	0.612																																						ENST00000591885.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						c.(2362-2364)gcC>gcT		rhomboid 5 homolog 2 (Drosophila)							62.0	50.0	54.0					17																	74467835		2201	4299	6500	SO:0001819	synonymous_variant	79651				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr17:74467835G>A	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.2451C>T	17.37:g.74467835G>A						RHBDF2_ENST00000389760.4_Silent_p.A788A|RHBDF2_ENST00000313080.4_Silent_p.A817A	p.A788A			Q6PJF5	RHDF2_HUMAN			19	2914	-			817					A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Silent	SNP	ENST00000313080.4	37	c.2364C>T	CCDS32743.1																																																																																				0.612	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		3	8	0	0	0	1	0	3	8				
DYRK4	8798	broad.mit.edu	37	12	4705340	4705340	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:4705340G>A	ENST00000540757.2	+	5	468	c.308G>A	c.(307-309)cGc>cAc	p.R103H	DYRK4_ENST00000010132.5_Missense_Mutation_p.R103H|DYRK4_ENST00000543431.1_Missense_Mutation_p.R103H	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	103						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ATTGCCTACCGCTATGAAGTT	0.552																																						ENST00000540757.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(307-309)cGc>cAc		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							137.0	141.0	140.0					12																	4705340		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4705340G>A	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.308G>A	12.37:g.4705340G>A	ENSP00000441755:p.Arg103His					DYRK4_ENST00000543431.1_Missense_Mutation_p.R103H|DYRK4_ENST00000010132.5_Missense_Mutation_p.R103H	p.R103H	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		5	468	+			103					A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.308G>A	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	G	35	5.490276	0.96339	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.58	5.58	0.84498	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	M	0.92880	3.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.72554	-0.4258	10	0.87932	D	0	.	19.1806	0.93622	0.0:0.0:1.0:0.0	.	218;103;103	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	H	218;103;103;103	ENSP00000437534:R218H;ENSP00000441755:R103H;ENSP00000010132:R103H;ENSP00000439697:R103H	ENSP00000010132:R103H	R	+	2	0	DYRK4	4575601	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.566000	0.98157	2.629000	0.89072	0.655000	0.94253	CGC		0.552	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			13	99	0	0	0	1	0	13	99				
STAT6	6778	broad.mit.edu	37	12	57499054	57499054	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:57499054C>T	ENST00000300134.3	-	9	1206	c.881G>A	c.(880-882)cGa>cAa	p.R294Q	STAT6_ENST00000454075.3_Missense_Mutation_p.R294Q|STAT6_ENST00000556155.1_Missense_Mutation_p.R294Q|STAT6_ENST00000537215.2_Missense_Mutation_p.R184Q|STAT6_ENST00000538913.2_Missense_Mutation_p.R184Q|STAT6_ENST00000543873.2_Missense_Mutation_p.R294Q	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	294					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CAACAGGAATCGAACTCCAGC	0.622																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(880-882)cGa>cAa		signal transducer and activator of transcription 6, interleukin-4 induced							41.0	46.0	44.0					12																	57499054		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57499054C>T	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.881G>A	12.37:g.57499054C>T	ENSP00000300134:p.Arg294Gln					STAT6_ENST00000537215.2_Missense_Mutation_p.R184Q|STAT6_ENST00000538913.2_Missense_Mutation_p.R184Q|STAT6_ENST00000556155.1_Missense_Mutation_p.R294Q|STAT6_ENST00000454075.3_Missense_Mutation_p.R294Q|STAT6_ENST00000543873.2_Missense_Mutation_p.R294Q	p.R294Q	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			9	1206	-			294					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.881G>A	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702261	0.88924	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516	D;D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34;-3.34	4.37	4.37	0.52481	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.150771	0.44688	D	0.000421	D	0.96112	0.8733	M	0.85630	2.765	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.76071	0.979;0.987	D	0.95832	0.8859	10	0.87932	D	0	-8.6411	8.1027	0.30868	0.0:0.8929:0.0:0.1071	.	294;294	A8K4S9;P42226	.;STAT6_HUMAN	Q	294;184;184;294;294;184;294;184;294	ENSP00000300134:R294Q;ENSP00000445409:R184Q;ENSP00000438451:R294Q;ENSP00000451742:R294Q;ENSP00000444530:R184Q;ENSP00000401486:R294Q	ENSP00000300134:R294Q	R	-	2	0	STAT6	55785321	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.748000	0.62148	2.261000	0.74972	0.561000	0.74099	CGA		0.622	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		10	33	0	0	0	1	0	10	33				
PLEKHG4	25894	broad.mit.edu	37	16	67319227	67319227	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:67319227G>A	ENST00000360461.5	+	13	4765	c.2230G>A	c.(2230-2232)Gag>Aag	p.E744K	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E663K|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E744K|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E744K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	744	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGTGGCCACGGAGCGGGAGTA	0.622																																						ENST00000360461.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2230-2232)Gag>Aag		pleckstrin homology domain containing, family G (with RhoGef domain) member 4							65.0	65.0	65.0					16																	67319227		2198	4300	6498	SO:0001583	missense	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67319227G>A	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.2230G>A	16.37:g.67319227G>A	ENSP00000353646:p.Glu744Lys					PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E663K|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E744K|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E744K	p.E744K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	13	4765	+			744			DH.		Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	c.2230G>A	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601918	0.96614	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	4.7	4.7	0.59300	Dbl homology (DH) domain (5);	0.000000	0.33772	N	0.004561	D	0.99032	0.9669	H	0.99286	4.5	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.99069	1.0833	10	0.87932	D	0	.	16.6264	0.84971	0.0:0.0:1.0:0.0	.	663;744	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	K	744;744;744;663	ENSP00000353646:E744K;ENSP00000401118:E744K;ENSP00000368649:E744K;ENSP00000398030:E663K	ENSP00000353646:E744K	E	+	1	0	PLEKHG4	65876728	1.000000	0.71417	0.931000	0.37212	0.766000	0.43426	9.809000	0.99208	2.178000	0.69098	0.561000	0.74099	GAG		0.622	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		22	28	0	0	0	1	0	22	28				
AKNA	80709	broad.mit.edu	37	9	117129977	117129977	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr9:117129977C>A	ENST00000307564.4	-	6	1735	c.1574G>T	c.(1573-1575)gGg>gTg	p.G525V	AKNA_ENST00000312033.3_Splice_Site_p.G525V|AKNA_ENST00000374075.5_Splice_Site_p.G444V|AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374088.3_Splice_Site_p.G525V	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	525					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TGATGGCCACCCTGGAATACA	0.582																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.e6-1		AT-hook transcription factor							39.0	37.0	38.0					9																	117129977		2203	4300	6503	SO:0001630	splice_region_variant	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117129977C>A	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1574-1G>T	9.37:g.117129977C>A						AKNA_ENST00000374075.5_Splice_Site_p.G444_splice|AKNA_ENST00000312033.3_Splice_Site_p.G525_splice|AKNA_ENST00000374088.3_Splice_Site_p.G525_splice|AKNA_ENST00000223791.3_5'UTR	p.G525_splice	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			6	1735	-			525					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Splice_Site	SNP	ENST00000307564.4	37	c.1573_splice	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.224730	0.58668	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000374075;ENST00000312033	T;T;T;T	0.32988	2.66;2.66;2.66;1.43	4.9	2.08	0.27032	.	0.521412	0.17848	N	0.159952	T	0.41190	0.1148	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.75020	0.942;0.985	T	0.25012	-1.0144	10	0.72032	D	0.01	.	6.6128	0.22761	0.0:0.7162:0.0:0.2838	.	525;444	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	V	525;366;525;444;525	ENSP00000303769:G525V;ENSP00000363201:G525V;ENSP00000363188:G444V;ENSP00000309222:G525V	ENSP00000303769:G525V	G	-	2	0	AKNA	116169798	0.800000	0.28916	0.990000	0.47175	0.179000	0.23085	0.745000	0.26259	0.788000	0.33755	0.655000	0.94253	GGG		0.582	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767	Missense_Mutation	18	17	1	0	8.28177e-16	1	8.91547e-16	18	17				
GPC6	10082	broad.mit.edu	37	13	95034757	95034757	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr13:95034757G>A	ENST00000377047.4	+	7	1857	c.1242G>A	c.(1240-1242)gcG>gcA	p.A414A		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	414					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GCGTGACAGCGGGCACGTCCA	0.532																																						ENST00000377047.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38						c.(1240-1242)gcG>gcA		glypican 6							147.0	133.0	137.0					13																	95034757		2203	4300	6503	SO:0001819	synonymous_variant	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:95034757G>A	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.1242G>A	13.37:g.95034757G>A							p.A414A	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN			7	1857	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	414					A8K279|Q96SG5|Q96SG8|Q9H1P4	Silent	SNP	ENST00000377047.4	37	c.1242G>A	CCDS9469.1																																																																																				0.532	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		18	16	0	0	0	1	0	18	16				
VWF	7450	broad.mit.edu	37	12	6135163	6135163	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:6135163T>A	ENST00000261405.5	-	23	3271	c.3017A>T	c.(3016-3018)gAc>gTc	p.D1006V		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1006	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCTGGTGAGGTCATTGTTCTG	0.527																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(3016-3018)gAc>gTc		von Willebrand factor	Antihemophilic Factor(DB00025)						114.0	105.0	108.0					12																	6135163		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6135163T>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.3017A>T	12.37:g.6135163T>A	ENSP00000261405:p.Asp1006Val						p.D1006V	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			23	3271	-			1006			VWFD 3.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.3017A>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.215643	0.79352	.	.	ENSG00000110799	ENST00000261405	T	0.75050	-0.9	4.84	4.84	0.62591	von Willebrand factor, type D domain (3);	0.000000	0.44902	D	0.000407	D	0.91157	0.7215	H	0.98295	4.195	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.94180	0.7431	10	0.87932	D	0	.	13.756	0.62937	0.0:0.0:0.0:1.0	.	1006	P04275	VWF_HUMAN	V	1006	ENSP00000261405:D1006V	ENSP00000261405:D1006V	D	-	2	0	VWF	6005424	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.507000	0.81676	2.027000	0.59764	0.459000	0.35465	GAC		0.527	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		15	47	0	0	0	1	0	15	47				
CLCA1	1179	broad.mit.edu	37	1	86942145	86942145	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:86942145C>T	ENST00000234701.3	+	5	817	c.466C>T	c.(466-468)Cat>Tat	p.H156Y	CLCA1_ENST00000394711.1_Missense_Mutation_p.H156Y			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	156	Metalloprotease domain. {ECO:0000269|PubMed:23112050}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGCATTTGTCCATGAGTGGGC	0.353																																						ENST00000234701.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(466-468)Cat>Tat		chloride channel accessory 1							99.0	98.0	98.0					1																	86942145		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86942145C>T		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.466C>T	1.37:g.86942145C>T	ENSP00000234701:p.His156Tyr					CLCA1_ENST00000394711.1_Missense_Mutation_p.H156Y	p.H156Y			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	5	817	+		Lung NSC(277;0.239)	156					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.466C>T	CCDS709.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453942	0.84209	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.20069	2.1;2.1	5.85	5.85	0.93711	Chloride channel calcium-activated (1);	0.056686	0.64402	N	0.000002	T	0.53578	0.1805	M	0.92784	3.345	0.40690	D	0.982385	D	0.89917	1.0	D	0.91635	0.999	T	0.64588	-0.6372	10	0.87932	D	0	-22.1946	19.7493	0.96261	0.0:1.0:0.0:0.0	.	156	A8K7I4	CLCA1_HUMAN	Y	156	ENSP00000234701:H156Y;ENSP00000378200:H156Y	ENSP00000234701:H156Y	H	+	1	0	CLCA1	86714733	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.516000	0.67055	2.767000	0.95098	0.563000	0.77884	CAT		0.353	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		9	28	0	0	0	1	0	9	28				
ADRA1D	146	broad.mit.edu	37	20	4202253	4202253	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr20:4202253C>T	ENST00000379453.4	-	2	1752	c.1636G>A	c.(1636-1638)Gtc>Atc	p.V546I		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	546				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TCGTGTGGGACGCCTAGGGAC	0.667																																						ENST00000379453.4																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1636-1638)Gtc>Atc		adrenoceptor alpha 1D	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)						25.0	28.0	27.0					20																	4202253		2203	4298	6501	SO:0001583	missense	146				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr20:4202253C>T	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1636G>A	20.37:g.4202253C>T	ENSP00000368766:p.Val546Ile						p.V546I	NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN			2	1752	-			546	KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).				Q9NPY0	Missense_Mutation	SNP	ENST00000379453.4	37	c.1636G>A	CCDS13079.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066428	0.36470	.	.	ENSG00000171873	ENST00000379453	T	0.60299	0.2	3.48	3.48	0.39840	.	154.089000	0.00166	U	0.000000	T	0.48502	0.1503	L	0.31207	0.915	0.28313	N	0.922596	B	0.31705	0.336	B	0.26864	0.074	T	0.38112	-0.9676	10	0.20519	T	0.43	.	12.8115	0.57641	0.0:1.0:0.0:0.0	.	546	P25100	ADA1D_HUMAN	I	546	ENSP00000368766:V546I	ENSP00000368766:V546I	V	-	1	0	ADRA1D	4150253	0.765000	0.28485	0.029000	0.17559	0.631000	0.37964	1.177000	0.31969	1.893000	0.54813	0.305000	0.20034	GTC		0.667	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	NM_000678		3	23	0	0	0	1	0	3	23				
GLI2	2736	broad.mit.edu	37	2	121708835	121708835	+	Missense_Mutation	SNP	G	G	A	rs540240518		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:121708835G>A	ENST00000452319.1	+	4	331	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.G91S					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGCCCTCAGCGGCAGCCCTGT	0.632													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17960	0.0		0.0	False		,,,				2504	0.0					ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(271-273)Ggc>Agc		GLI family zinc finger 2							98.0	111.0	107.0					2																	121708835		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121708835G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.271G>A	2.37:g.121708835G>A	ENSP00000390436:p.Gly91Ser					GLI2_ENST00000361492.4_Missense_Mutation_p.G91S|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR	p.G91S			P10070	GLI2_HUMAN			4	331	+	Renal(3;0.0496)	Prostate(154;0.0623)	91						Missense_Mutation	SNP	ENST00000452319.1	37	c.271G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043608	0.75732	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.41400	1.0;1.0	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70016	0.958;0.967;0.955	T	0.40496	-0.9560	10	0.05525	T	0.97	.	19.1082	0.93305	0.0:0.0:1.0:0.0	.	91;91;91	B4DT63;P10070;Q0VGA0	.;GLI2_HUMAN;.	S	91	ENSP00000390436:G91S;ENSP00000354586:G91S	ENSP00000354586:G91S	G	+	1	0	GLI2	121425305	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.611000	0.74183	2.751000	0.94390	0.555000	0.69702	GGC		0.632	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		7	115	0	0	0	1	0	7	115				
MEGF6	1953	broad.mit.edu	37	1	3427388	3427388	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:3427388T>C	ENST00000356575.4	-	10	1419	c.1193A>G	c.(1192-1194)tAc>tGc	p.Y398C	MEGF6_ENST00000294599.4_Missense_Mutation_p.Y293C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	398	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GTAGCCGGCGTAGCAGCCGCA	0.682																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1192-1194)tAc>tGc		multiple EGF-like-domains 6							34.0	44.0	41.0					1																	3427388		2138	4234	6372	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3427388T>C	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.1193A>G	1.37:g.3427388T>C	ENSP00000348982:p.Tyr398Cys					MEGF6_ENST00000294599.4_Missense_Mutation_p.Y293C	p.Y398C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	10	1419	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	398			EGF-like 7.		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.1193A>G	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	T	9.904	1.207579	0.22205	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.87412	-2.25;-2.25	4.51	2.11	0.27256	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.540004	0.19159	N	0.121247	D	0.86564	0.5963	M	0.64404	1.975	0.09310	N	1	D;P	0.62365	0.991;0.94	P;P	0.54460	0.706;0.753	T	0.76189	-0.3050	10	0.40728	T	0.16	-26.351	3.5283	0.07768	0.1744:0.1798:0.0:0.6458	.	398;293	O75095;O75095-2	MEGF6_HUMAN;.	C	293;398	ENSP00000294599:Y293C;ENSP00000348982:Y398C	ENSP00000294599:Y293C	Y	-	2	0	MEGF6	3417248	0.000000	0.05858	0.977000	0.42913	0.969000	0.65631	0.190000	0.17057	0.534000	0.28695	0.379000	0.24179	TAC		0.682	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		4	28	0	0	0	1	0	4	28				
PCID2	55795	broad.mit.edu	37	13	113849441	113849441	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr13:113849441T>C	ENST00000337344.4	-	6	385		c.e6-2		PCID2_ENST00000375477.1_Splice_Site|PCID2_ENST00000375459.1_Splice_Site|PCID2_ENST00000375457.2_Splice_Site|PCID2_ENST00000375479.2_Splice_Site|PCID2_ENST00000246505.5_Splice_Site	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2						negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GGCAGAGCCCTGCAGGGCAAA	0.453																																						ENST00000375457.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20						c.e6-2		PCI domain containing 2							90.0	89.0	89.0					13																	113849441		2203	4300	6503	SO:0001630	splice_region_variant	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113849441T>C	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.309-2A>G	13.37:g.113849441T>C						PCID2_ENST00000246505.5_Splice_Site|PCID2_ENST00000351317.3_Intron|PCID2_ENST00000375459.1_Splice_Site|PCID2_ENST00000375479.2_Splice_Site|PCID2_ENST00000337344.4_Splice_Site|PCID2_ENST00000375477.1_Splice_Site		NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		6	899	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)						A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Splice_Site	SNP	ENST00000337344.4	37		CCDS9532.2	.	.	.	.	.	.	.	.	.	.	T	19.11	3.763504	0.69763	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000246506	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3413	0.66627	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCID2	112897442	1.000000	0.71417	0.990000	0.47175	0.811000	0.45836	5.626000	0.67777	1.932000	0.55993	0.460000	0.39030	.		0.453	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386	Intron	14	26	0	0	0	1	0	14	26				
LRRC41	10489	broad.mit.edu	37	1	46746931	46746931	+	Missense_Mutation	SNP	C	C	T	rs150782403		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:46746931C>T	ENST00000343304.6	-	5	1907	c.1622G>A	c.(1621-1623)cGt>cAt	p.R541H	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	541					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CACGATAGCACGTGTCAGCTC	0.637																																						ENST00000343304.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(1621-1623)cGt>cAt		leucine rich repeat containing 41		C	HIS/ARG	0,4406		0,0,2203	80.0	64.0	69.0		1622	4.3	1.0	1	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LRRC41	NM_006369.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	541/813	46746931	1,13005	2203	4300	6503	SO:0001583	missense	10489							g.chr1:46746931C>T	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1622G>A	1.37:g.46746931C>T	ENSP00000343298:p.Arg541His					LRRC41_ENST00000472710.1_5'UTR	p.R541H	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			5	1907	-	Acute lymphoblastic leukemia(166;0.155)		541					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.1622G>A	CCDS533.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658442	0.29425	0.0	1.16E-4	ENSG00000132128	ENST00000343304;ENST00000371972	T	0.44881	0.91	5.42	4.31	0.51392	.	0.334641	0.29396	N	0.012272	T	0.16685	0.0401	N	0.02539	-0.55	0.28812	N	0.898167	B;B	0.11235	0.004;0.004	B;B	0.06405	0.002;0.002	T	0.10613	-1.0622	10	0.20046	T	0.44	-8.8583	9.0781	0.36534	0.0:0.7578:0.0:0.2422	.	541;541	Q15345-3;Q15345	.;LRC41_HUMAN	H	541;519	ENSP00000343298:R541H	ENSP00000343298:R541H	R	-	2	0	LRRC41	46519518	0.980000	0.34600	1.000000	0.80357	0.992000	0.81027	0.980000	0.29513	2.548000	0.85928	0.557000	0.71058	CGT		0.637	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		11	37	0	0	0	1	0	11	37				
RPAP2	79871	broad.mit.edu	37	1	92789302	92789302	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:92789302C>T	ENST00000610020.1	+	8	934	c.825C>T	c.(823-825)ggC>ggT	p.G275G	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	275					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGCAGTTAGGCGATTGCAAAT	0.373																																						ENST00000370343.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22						c.(823-825)ggC>ggT		RNA polymerase II associated protein 2							117.0	115.0	116.0					1																	92789302		2203	4300	6503	SO:0001819	synonymous_variant	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92789302C>T	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.825C>T	1.37:g.92789302C>T						RPAP2_ENST00000484158.1_3'UTR	p.G275G	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	8	934	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	275					C9JKB5|Q49AS7|Q9H8Y2	Silent	SNP	ENST00000610020.1	37	c.825C>T	CCDS740.1																																																																																				0.373	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		26	84	0	0	0	1	0	26	84				
SPATA18	132671	broad.mit.edu	37	4	52960705	52960705	+	Missense_Mutation	SNP	C	C	T	rs374841570		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:52960705C>T	ENST00000295213.4	+	12	1950	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	SPATA18_ENST00000419395.2_Missense_Mutation_p.R494W	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	526					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTCTCGAAGTCGGAGTCCTTC	0.348																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1576-1578)Cgg>Tgg		spermatogenesis associated 18		C	TRP/ARG	0,4406		0,0,2203	112.0	117.0	115.0		1576	4.8	1.0	4		115	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPATA18	NM_145263.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	526/539	52960705	1,13005	2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52960705C>T	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1576C>T	4.37:g.52960705C>T	ENSP00000295213:p.Arg526Trp					SPATA18_ENST00000419395.2_Missense_Mutation_p.R494W	p.R526W	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		12	1950	+			526					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1576C>T	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269392	0.80469	0.0	1.16E-4	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.36699	1.24;1.26	4.84	4.84	0.62591	.	0.197922	0.43579	D	0.000555	T	0.56381	0.1981	M	0.61703	1.905	0.42626	D	0.993367	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.59010	-0.7534	10	0.87932	D	0	-9.9646	13.6443	0.62272	0.0:1.0:0.0:0.0	.	494;526	Q8TC71-2;Q8TC71	.;MIEAP_HUMAN	W	526;494	ENSP00000295213:R526W;ENSP00000415309:R494W	ENSP00000295213:R526W	R	+	1	2	SPATA18	52655462	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.711000	0.54868	2.677000	0.91161	0.655000	0.94253	CGG		0.348	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		4	38	0	0	0	1	0	4	38				
MEX3B	84206	broad.mit.edu	37	15	82336338	82336338	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:82336338C>T	ENST00000329713.4	-	2	1308	c.873G>A	c.(871-873)tcG>tcA	p.S291S	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	291					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CACTGCCAAGCGAGCTGGAGC	0.692																																						ENST00000329713.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						c.(871-873)tcG>tcA		mex-3 RNA binding family member B							32.0	39.0	37.0					15																	82336338		2200	4294	6494	SO:0001819	synonymous_variant	84206				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	g.chr15:82336338C>T	AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.873G>A	15.37:g.82336338C>T						MEX3B_ENST00000558133.1_3'UTR	p.S291S	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN			2	1308	-			291					Q4G0W1|Q8IVG2|Q9H0J0	Silent	SNP	ENST00000329713.4	37	c.873G>A	CCDS10319.1																																																																																				0.692	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645		13	41	0	0	0	1	0	13	41				
GCC1	79571	broad.mit.edu	37	7	127223060	127223060	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:127223060C>T	ENST00000321407.2	-	2	1760	c.1336G>A	c.(1336-1338)Gcg>Acg	p.A446T	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	446					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTCCTGGCCGCAACCTGCAGC	0.557																																						ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1336-1338)Gcg>Acg		GRIP and coiled-coil domain containing 1							94.0	99.0	97.0					7																	127223060		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127223060C>T	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1336G>A	7.37:g.127223060C>T	ENSP00000318821:p.Ala446Thr					GCC1_ENST00000497650.1_5'UTR	p.A446T	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			2	1760	-			446					Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.1336G>A	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745218	0.69418	.	.	ENSG00000179562	ENST00000321407	T	0.15139	2.45	5.12	3.3	0.37823	.	0.000000	0.85682	D	0.000000	T	0.31827	0.0809	M	0.66939	2.045	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.14476	-1.0471	10	0.18276	T	0.48	-5.7036	6.6895	0.23163	0.176:0.7331:0.0:0.0909	.	446	Q96CN9	GCC1_HUMAN	T	446	ENSP00000318821:A446T	ENSP00000318821:A446T	A	-	1	0	GCC1	127010296	1.000000	0.71417	0.800000	0.32199	0.948000	0.59901	6.994000	0.76251	0.660000	0.30964	0.655000	0.94253	GCG		0.557	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		20	64	0	0	0	1	0	20	64				
SNRNP200	23020	broad.mit.edu	37	2	96955623	96955623	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:96955623G>A	ENST00000323853.5	-	21	2931	c.2854C>T	c.(2854-2856)Cgc>Tgc	p.R952C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	952					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCTAGTCGGCGCTGGTCCAGC	0.552																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(2854-2856)Cgc>Tgc		small nuclear ribonucleoprotein 200kDa (U5)							114.0	110.0	111.0					2																	96955623		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96955623G>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.2854C>T	2.37:g.96955623G>A	ENSP00000317123:p.Arg952Cys					SNRNP200_ENST00000349783.5_Intron	p.R952C	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			21	2931	-			952					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.2854C>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650904	0.87958	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	T	0.44083	0.93	5.67	4.78	0.61160	.	0.061238	0.64402	D	0.000005	T	0.68659	0.3025	H	0.95539	3.685	0.80722	D	1	D	0.57899	0.981	P	0.58266	0.836	T	0.76806	-0.2823	10	0.72032	D	0.01	-12.2051	10.5843	0.45273	0.0:0.1445:0.7056:0.1499	.	952	O75643	U520_HUMAN	C	952;627	ENSP00000317123:R952C	ENSP00000317123:R952C	R	-	1	0	SNRNP200	96319350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.343000	0.72986	1.373000	0.46208	0.655000	0.94253	CGC		0.552	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		5	73	0	0	0	1	0	5	73				
MYO9B	4650	broad.mit.edu	37	19	17305687	17305687	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:17305687C>T	ENST00000594824.1	+	22	3598	c.3451C>T	c.(3451-3453)Cgt>Tgt	p.R1151C	MYO9B_ENST00000397274.2_Missense_Mutation_p.R1151C|MYO9B_ENST00000595618.1_Missense_Mutation_p.R1151C			Q13459	MYO9B_HUMAN	myosin IXB	1151	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCGTGAGTCGCGTCGGCAAAG	0.592																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(3451-3453)Cgt>Tgt		myosin IXB							51.0	61.0	57.0					19																	17305687		2168	4272	6440	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17305687C>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.3451C>T	19.37:g.17305687C>T	ENSP00000471367:p.Arg1151Cys					MYO9B_ENST00000397274.2_Missense_Mutation_p.R1151C|MYO9B_ENST00000594824.1_Missense_Mutation_p.R1151C	p.R1151C	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			22	3603	+			1151			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.3451C>T		.	.	.	.	.	.	.	.	.	.	C	13.51	2.257406	0.39896	.	.	ENSG00000099331	ENST00000397274	D	0.86769	-2.17	5.36	3.17	0.36434	.	0.000000	0.48767	D	0.000163	D	0.89354	0.6691	L	0.36672	1.1	0.34300	D	0.68426	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	D	0.91885	0.5519	10	0.87932	D	0	.	12.5895	0.56436	0.301:0.699:0.0:0.0	.	1151;1151;1157	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	C	1151	ENSP00000380444:R1151C	ENSP00000380444:R1151C	R	+	1	0	MYO9B	17166687	0.804000	0.28969	0.011000	0.14972	0.115000	0.19883	1.487000	0.35540	0.612000	0.30071	0.561000	0.74099	CGT		0.592	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			19	35	0	0	0	1	0	19	35				
MAGED1	9500	broad.mit.edu	37	X	51639838	51639838	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:51639838C>T	ENST00000375722.1	+	4	1339	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Missense_Mutation_p.P363S|MAGED1_ENST00000375695.2_Missense_Mutation_p.P419S|MAGED1_ENST00000375772.3_Missense_Mutation_p.P363S			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	363	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CATTGTCTGGCCCGGCCCTGT	0.617										Multiple Myeloma(10;0.10)																												ENST00000375695.2																			0				breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(1255-1257)Ccc>Tcc		melanoma antigen family D, 1							36.0	35.0	35.0					X																	51639838		2203	4300	6503	SO:0001583	missense	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51639838C>T	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1087C>T	X.37:g.51639838C>T	ENSP00000364874:p.Pro363Ser	Multiple Myeloma(10;0.10)				MAGED1_ENST00000375722.1_Missense_Mutation_p.P363S|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.P363S|MAGED1_ENST00000326587.7_Missense_Mutation_p.P363S	p.P419S	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN			5	1408	+	Ovarian(276;0.236)		363			22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	c.1255C>T	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285225	0.40394	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	3.84	2.97	0.34412	.	0.000000	0.34531	N	0.003882	T	0.51007	0.1649	L	0.38175	1.15	0.30581	N	0.762541	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.941	T	0.48139	-0.9061	10	0.13108	T	0.6	.	9.0221	0.36206	0.0:0.8798:0.0:0.1202	.	419;363	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	S	363;363;363;419	ENSP00000364927:P363S;ENSP00000364874:P363S;ENSP00000325333:P363S;ENSP00000364847:P419S	ENSP00000325333:P363S	P	+	1	0	MAGED1	51656578	0.999000	0.42202	1.000000	0.80357	0.803000	0.45373	2.698000	0.47068	0.737000	0.32582	0.284000	0.19432	CCC		0.617	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		9	11	0	0	0	1	0	9	11				
KLHDC1	122773	broad.mit.edu	37	14	50176534	50176534	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:50176534A>G	ENST00000359332.2	+	3	365	c.275A>G	c.(274-276)tAc>tGc	p.Y92C	RP11-831F12.2_ENST00000557160.1_RNA	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	92						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					GACAAAGGATACAGCAATCGA	0.358																																						ENST00000359332.2																			0				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12						c.(274-276)tAc>tGc		kelch domain containing 1							98.0	92.0	94.0					14																	50176534		2203	4300	6503	SO:0001583	missense	122773					cytoplasm		g.chr14:50176534A>G	AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.275A>G	14.37:g.50176534A>G	ENSP00000352282:p.Tyr92Cys						p.Y92C	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN			3	365	+	all_epithelial(31;0.00244)|Breast(41;0.00964)		92					B3KXD9|Q8WYI1	Missense_Mutation	SNP	ENST00000359332.2	37	c.275A>G	CCDS9692.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.581104	0.65992	.	.	ENSG00000197776	ENST00000359332	D	0.92858	-3.12	5.16	5.16	0.70880	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.246864	0.42682	D	0.000679	D	0.94964	0.8371	M	0.64567	1.98	0.53005	D	0.99996	D	0.89917	1.0	D	0.87578	0.998	D	0.94445	0.7662	10	0.40728	T	0.16	-10.4457	15.2901	0.73859	1.0:0.0:0.0:0.0	.	92	Q8N7A1	KLDC1_HUMAN	C	92	ENSP00000352282:Y92C	ENSP00000352282:Y92C	Y	+	2	0	KLHDC1	49246284	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.575000	0.82447	2.080000	0.62538	0.379000	0.24179	TAC		0.358	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276882.2	NM_172193		12	32	0	0	0	1	0	12	32				
AHNAK2	113146	broad.mit.edu	37	14	105409688	105409688	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:105409688C>T	ENST00000333244.5	-	7	12219	c.12100G>A	c.(12100-12102)Gtg>Atg	p.V4034M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4034						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGAGTTTCACGTCCACTTGG	0.637																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(12100-12102)Gtg>Atg		AHNAK nucleoprotein 2							100.0	106.0	104.0					14																	105409688		1918	4113	6031	SO:0001583	missense	113146					nucleus		g.chr14:105409688C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12100G>A	14.37:g.105409688C>T	ENSP00000353114:p.Val4034Met					AHNAK2_ENST00000557457.1_Intron	p.V4034M	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12219	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4034					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.12100G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	11.70	1.717587	0.30413	.	.	ENSG00000185567	ENST00000333244	T	0.01025	5.43	3.98	-7.97	0.01139	.	.	.	.	.	T	0.00845	0.0028	L	0.39147	1.195	0.09310	N	1	P	0.45212	0.853	B	0.43950	0.437	T	0.23511	-1.0186	9	0.42905	T	0.14	.	0.8752	0.01223	0.1804:0.2132:0.2229:0.3835	.	4034	Q8IVF2	AHNK2_HUMAN	M	4034	ENSP00000353114:V4034M	ENSP00000353114:V4034M	V	-	1	0	AHNAK2	104480733	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.947000	0.03901	-1.353000	0.02191	-3.724000	0.00023	GTG		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		12	184	0	0	0	1	0	12	184				
DUSP8	1850	broad.mit.edu	37	11	1578608	1578608	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:1578608C>T	ENST00000397374.3	-	7	1145	c.1018G>A	c.(1018-1020)Gct>Act	p.A340T	DUSP8_ENST00000331588.4_Missense_Mutation_p.A340T|DUSP8_ENST00000528778.1_5'Flank	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	340	Pro-rich.|Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CCTGTGGCAGCGCTCTCTGAG	0.796																																						ENST00000397374.3																			0				endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5						c.(1018-1020)Gct>Act		dual specificity phosphatase 8							6.0	8.0	8.0					11																	1578608		1542	3432	4974	SO:0001583	missense	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1578608C>T		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3074	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""H1 phosphatase, vaccinia virus homolog"""	602038	"""chromosome 11 open reading frame 81"""	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.1018G>A	11.37:g.1578608C>T	ENSP00000380530:p.Ala340Thr					DUSP8_ENST00000331588.4_Missense_Mutation_p.A340T	p.A340T	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	7	1145	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	340			Pro-rich.|Tyrosine-protein phosphatase.		Q86SS8	Missense_Mutation	SNP	ENST00000397374.3	37	c.1018G>A	CCDS7724.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763684	0.31228	.	.	ENSG00000184545	ENST00000397374;ENST00000331588	T;T	0.02301	4.35;4.35	3.47	1.48	0.22813	.	2.780900	0.02164	N	0.059078	T	0.02012	0.0063	N	0.22421	0.69	0.24118	N	0.995814	P	0.52577	0.954	B	0.36922	0.236	T	0.49960	-0.8883	10	0.20519	T	0.43	.	9.1203	0.36784	0.0:0.8123:0.0:0.1877	.	340	Q13202	DUS8_HUMAN	T	340	ENSP00000380530:A340T;ENSP00000329539:A340T	ENSP00000329539:A340T	A	-	1	0	DUSP8	1535184	0.950000	0.32346	0.985000	0.45067	0.803000	0.45373	2.063000	0.41423	0.659000	0.30945	0.306000	0.20318	GCT		0.796	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3	NM_004420		3	5	0	0	0	1	0	3	5				
DHX16	8449	broad.mit.edu	37	6	30630690	30630690	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr6:30630690C>T	ENST00000376442.3	-	8	1621	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K	DHX16_ENST00000480966.1_5'Flank|DHX16_ENST00000376437.5_5'Flank	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	476	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						AATCTCACCTCATTCCCAAGC	0.587																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(1426-1428)Gag>Aag		DEAH (Asp-Glu-Ala-His) box polypeptide 16							51.0	61.0	57.0					6																	30630690		1509	2707	4216	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30630690C>T	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1426G>A	6.37:g.30630690C>T	ENSP00000365625:p.Glu476Lys						p.E476K	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			8	1621	-			476			Helicase ATP-binding.		O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.1426G>A	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	36	5.931048	0.97116	.	.	ENSG00000204560	ENST00000376442	T	0.29655	1.56	5.91	5.91	0.95273	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.118480	0.56097	D	0.000022	T	0.50769	0.1635	M	0.80332	2.49	0.80722	D	1	D;P	0.55605	0.972;0.786	P;P	0.61070	0.883;0.665	T	0.53683	-0.8404	10	0.87932	D	0	.	19.0726	0.93145	0.0:1.0:0.0:0.0	.	416;476	B4DZ28;O60231	.;DHX16_HUMAN	K	476	ENSP00000365625:E476K	ENSP00000365625:E476K	E	-	1	0	DHX16	30738669	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.255000	0.78338	2.809000	0.96659	0.555000	0.69702	GAG		0.587	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		10	34	0	0	0	1	0	10	34				
SLTM	79811	broad.mit.edu	37	15	59179240	59179240	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:59179240G>A	ENST00000380516.2	-	19	2856	c.2769C>T	c.(2767-2769)agC>agT	p.S923S	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Silent_p.S492S	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	923					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACCCCGAAGCGCTGCTACGAT	0.562																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2767-2769)agC>agT		SAFB-like, transcription modulator							93.0	79.0	84.0					15																	59179240		2192	4292	6484	SO:0001819	synonymous_variant	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59179240G>A	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2769C>T	15.37:g.59179240G>A						SLTM_ENST00000536328.1_Silent_p.S492S	p.S923S	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			19	2856	-			923					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000380516.2	37	c.2769C>T	CCDS10168.2																																																																																				0.562	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		4	34	0	0	0	1	0	4	34				
DICER1	23405	broad.mit.edu	37	14	95571440	95571440	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:95571440G>A	ENST00000526495.1	-	22	3528	c.3237C>T	c.(3235-3237)ggC>ggT	p.G1079G	DICER1_ENST00000527414.1_Silent_p.G1079G|DICER1_ENST00000393063.1_Silent_p.G1079G|DICER1_ENST00000541352.1_Silent_p.G1079G|DICER1_ENST00000343455.3_Silent_p.G1079G|DICER1_ENST00000556045.1_Missense_Mutation_p.A3V			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1079					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGACTCCCACGCCAGCATCGC	0.488			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000556045.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(7-9)gCg>gTg		dicer 1, ribonuclease type III							99.0	102.0	101.0					14																	95571440		2203	4300	6503	SO:0001819	synonymous_variant	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95571440G>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3237C>T	14.37:g.95571440G>A						DICER1_ENST00000393063.1_Silent_p.G1079G|DICER1_ENST00000526495.1_Silent_p.G1079G|DICER1_ENST00000343455.3_Silent_p.G1079G|DICER1_ENST00000527414.1_Silent_p.G1079G|DICER1_ENST00000541352.1_Silent_p.G1079G	p.A3V			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	3	290	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	0					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.8C>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983094	0.34942	.	.	ENSG00000100697	ENST00000556045	D	0.86164	-2.08	5.65	-4.85	0.03142	.	.	.	.	.	T	0.72922	0.3521	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49799	-0.8901	7	.	.	.	-24.8009	7.8221	0.29294	0.47:0.2679:0.2621:0.0	.	3	B3KRG4	.	V	3	ENSP00000451041:A3V	.	A	-	2	0	DICER1	94641193	0.001000	0.12720	0.982000	0.44146	0.946000	0.59487	-1.320000	0.02700	-0.491000	0.06697	-0.448000	0.05591	GCG		0.488	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			30	53	0	0	0	1	0	30	53				
HHIP	64399	broad.mit.edu	37	4	145580838	145580838	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:145580838C>T	ENST00000296575.3	+	4	1334	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR|HHIP_ENST00000434550.2_Missense_Mutation_p.R227W	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	227					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GAGTGGGCTGCGGCAGCCCGT	0.448																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(679-681)Cgg>Tgg		hedgehog interacting protein							124.0	136.0	132.0					4																	145580838		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145580838C>T	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.679C>T	4.37:g.145580838C>T	ENSP00000296575:p.Arg227Trp					HHIP_ENST00000434550.2_Missense_Mutation_p.R227W|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR	p.R227W	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	4	1334	+	all_hematologic(180;0.151)		227					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.679C>T	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806513	0.70682	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.53423	2.72;0.62	5.54	4.61	0.57282	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.094804	0.64402	D	0.000001	T	0.64875	0.2638	M	0.70595	2.14	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.985	T	0.67173	-0.5737	10	0.72032	D	0.01	-12.2996	11.0696	0.47995	0.4104:0.5896:0.0:0.0	.	227;227	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	W	227	ENSP00000296575:R227W;ENSP00000408587:R227W	ENSP00000296575:R227W	R	+	1	2	HHIP	145800288	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.304000	0.51866	2.620000	0.88729	0.555000	0.69702	CGG		0.448	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			12	132	0	0	0	1	0	12	132				
ESPNP	284729	broad.mit.edu	37	1	17030590	17030590	+	RNA	SNP	G	G	A	rs590170	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:17030590G>A	ENST00000492551.1	-	0	745					NR_026567.1				espin pseudogene																		CGGCTGCTTCGCCTCCAGCTC	0.617																																						ENST00000492551.1																			0																																																			0							g.chr1:17030590G>A	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17030590G>A								NR_026567.1						0	745	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.617	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			3	26	0	0	0	1	0	3	26				
CADPS	8618	broad.mit.edu	37	3	62499360	62499360	+	Intron	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:62499360T>C	ENST00000383710.4	-	17	2931				CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Missense_Mutation_p.E868G	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator						catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GACAGGATGCTCATACATTTC	0.433																																						ENST00000283269.9																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(2602-2604)gAg>gGg		Ca++-dependent secretion activator							110.0	87.0	95.0					3																	62499360		2203	4300	6503	SO:0001627	intron_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62499360T>C	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2582-917A>G	3.37:g.62499360T>C						CADPS_ENST00000383710.4_Intron|CADPS_ENST00000357948.3_Intron	p.E868G	NM_183394.2	NP_899631.1	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	17	2814	-		Lung SC(41;0.0452)	865			Interaction with DRD2.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.2603A>G	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	T	9.407	1.079417	0.20227	.	.	ENSG00000163618	ENST00000283269	T	0.47177	0.85	5.41	5.41	0.78517	.	.	.	.	.	T	0.65333	0.2681	.	.	.	0.80722	D	1	D	0.61080	0.989	D	0.72982	0.979	T	0.62029	-0.6940	8	0.25751	T	0.34	.	15.7421	0.77905	0.0:0.0:0.0:1.0	.	868	Q9ULU8-3	.	G	868	ENSP00000283269:E868G	ENSP00000283269:E868G	E	-	2	0	CADPS	62474400	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.188000	0.69820	0.533000	0.62120	GAG		0.433	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		4	7	0	0	0	1	0	4	7				
TAF1	6872	broad.mit.edu	37	X	70613199	70613199	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:70613199T>C	ENST00000373790.4	+	21	3148	c.3097T>C	c.(3097-3099)Tca>Cca	p.S1033P	TAF1_ENST00000276072.3_Missense_Mutation_p.S1054P|TAF1_ENST00000449580.1_Missense_Mutation_p.S1033P|TAF1_ENST00000423759.1_Missense_Mutation_p.S1054P	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1033					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GCGCACAATGTCAACAGAACA	0.453																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(3097-3099)Tca>Cca		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							129.0	117.0	121.0					X																	70613199		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70613199T>C		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3097T>C	X.37:g.70613199T>C	ENSP00000362895:p.Ser1033Pro					TAF1_ENST00000423759.1_Missense_Mutation_p.S1054P|TAF1_ENST00000276072.3_Missense_Mutation_p.S1054P|TAF1_ENST00000373790.4_Missense_Mutation_p.S1033P	p.S1033P			P21675	TAF1_HUMAN			21	3148	+	Renal(35;0.156)	all_lung(315;0.000321)	1033					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.3097T>C	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	33	5.209650	0.95069	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.13657	2.58;2.65;2.62;2.57	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	M	0.84511	2.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.999	T	0.48714	-0.9011	10	0.87932	D	0	.	14.6462	0.68762	0.0:0.0:0.0:1.0	.	1033;1033;1054	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	P	1033;1033;1054;1054	ENSP00000362895:S1033P;ENSP00000389000:S1033P;ENSP00000406549:S1054P;ENSP00000276072:S1054P	ENSP00000276072:S1054P	S	+	1	0	TAF1	70529924	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.482000	0.81143	1.839000	0.53478	0.486000	0.48141	TCA		0.453	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		28	6	0	0	0	1	0	28	6				
USP45	85015	broad.mit.edu	37	6	99885247	99885247	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr6:99885247T>C	ENST00000327681.6	-	17	2721	c.2189A>G	c.(2188-2190)tAc>tGc	p.Y730C	USP45_ENST00000392738.2_Missense_Mutation_p.Y410C|USP45_ENST00000500704.2_Missense_Mutation_p.Y730C|USP45_ENST00000369233.2_Missense_Mutation_p.Y682C|USP45_ENST00000539675.1_Missense_Mutation_p.Y23C	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	730	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		ATAGAGACCGTAGAGAACTTT	0.363																																						ENST00000327681.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(2188-2190)tAc>tGc		ubiquitin specific peptidase 45							113.0	100.0	105.0					6																	99885247		2203	4300	6503	SO:0001583	missense	85015				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:99885247T>C	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.2189A>G	6.37:g.99885247T>C	ENSP00000333376:p.Tyr730Cys					USP45_ENST00000369233.2_Missense_Mutation_p.Y682C|USP45_ENST00000392738.2_Missense_Mutation_p.Y410C|USP45_ENST00000539675.1_Missense_Mutation_p.Y23C|USP45_ENST00000500704.2_Missense_Mutation_p.Y730C	p.Y730C	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	17	2721	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	730					B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	ENST00000327681.6	37	c.2189A>G	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.760722	0.49468	.	.	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000539675;ENST00000369233	T;T;T;T;T	0.74632	-0.86;1.95;1.95;-0.86;-0.86	5.65	4.49	0.54785	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.073354	0.56097	N	0.000025	D	0.87845	0.6280	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90607	0.4549	10	0.87932	D	0	.	11.4189	0.49969	0.0:0.0707:0.0:0.9293	.	730;410	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	C	410;730;730;23;682	ENSP00000376495:Y410C;ENSP00000424372:Y730C;ENSP00000333376:Y730C;ENSP00000439569:Y23C;ENSP00000358236:Y682C	ENSP00000333376:Y730C	Y	-	2	0	USP45	99991968	1.000000	0.71417	1.000000	0.80357	0.124000	0.20399	7.535000	0.82014	0.980000	0.38523	-0.326000	0.08463	TAC		0.363	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		15	19	0	0	0	1	0	15	19				
APOO	79135	broad.mit.edu	37	X	23876823	23876823	+	Missense_Mutation	SNP	G	G	A	rs369973145		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:23876823G>A	ENST00000379226.4	-	6	647	c.416C>T	c.(415-417)cCg>cTg	p.P139L	APOO_ENST00000379220.3_Missense_Mutation_p.P120L	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	139					lipid transport (GO:0006869)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|mitochondrion (GO:0005739)|very-low-density lipoprotein particle (GO:0034361)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						GAAACCAGGCGGATACACTAG	0.403																																						ENST00000379226.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						c.(415-417)cCg>cTg		apolipoprotein O		G	LEU/PRO	0,3835		0,0,1632,571	154.0	125.0	135.0		416	5.7	1.0	X		135	1,6727		0,1,2427,1872	no	missense	APOO	NM_024122.4	98	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging	139/199	23876823	1,10562	2203	4300	6503	SO:0001583	missense	79135				lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle		g.chrX:23876823G>A	BC016814	CCDS14208.1	Xp22.11	2013-01-24	2007-01-17	2007-01-17	ENSG00000184831	ENSG00000184831		"""Apolipoproteins"""	28727	protein-coding gene	gene with protein product		300753	"""family with sequence similarity 121B"""	FAM121B		12975309, 16956892	Standard	NR_026545		Approved	MGC4825, My025	uc004dax.3	Q9BUR5	OTTHUMG00000021259	ENST00000379226.4:c.416C>T	X.37:g.23876823G>A	ENSP00000368528:p.Pro139Leu					APOO_ENST00000379220.3_Missense_Mutation_p.P120L	p.P139L	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN			6	647	-			139					B2R4K9|Q9H3J9	Missense_Mutation	SNP	ENST00000379226.4	37	c.416C>T	CCDS14208.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147046	0.77888	0.0	1.49E-4	ENSG00000184831	ENST00000379226;ENST00000439528;ENST00000379220	T;T;T	0.15834	2.39;2.39;2.39	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.44664	0.1304	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.46091	-0.9216	10	0.87932	D	0	-9.9969	15.5096	0.75769	0.0:0.0:1.0:0.0	.	139	Q9BUR5	APOO_HUMAN	L	139;119;120	ENSP00000368528:P139L;ENSP00000402557:P119L;ENSP00000368522:P120L	ENSP00000368522:P120L	P	-	2	0	APOO	23786744	1.000000	0.71417	0.985000	0.45067	0.860000	0.49131	6.139000	0.71728	2.371000	0.80710	0.506000	0.49869	CCG		0.403	APOO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056074.1	NM_024122		13	4	0	0	0	1	0	13	4				
FGF5	2250	broad.mit.edu	37	4	81207548	81207548	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:81207548G>T	ENST00000312465.7	+	3	755	c.529G>T	c.(529-531)Gca>Tca	p.A177S	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	177					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CTATGCCTCAGCAATACATAG	0.453																																						ENST00000312465.7																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(529-531)Gca>Tca		fibroblast growth factor 5							110.0	124.0	119.0					4																	81207548		2203	4300	6503	SO:0001583	missense	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81207548G>T	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.529G>T	4.37:g.81207548G>T	ENSP00000311697:p.Ala177Ser					FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	p.A177S	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN			3	755	+			177					B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	c.529G>T	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360356	0.41801	.	.	ENSG00000138675	ENST00000312465	D	0.81908	-1.55	5.82	5.82	0.92795	.	0.144362	0.64402	D	0.000007	T	0.81498	0.4835	L	0.41079	1.255	0.80722	D	1	P	0.41232	0.743	P	0.45946	0.498	T	0.75895	-0.3156	10	0.10636	T	0.68	.	20.0851	0.97797	0.0:0.0:1.0:0.0	.	177	P12034	FGF5_HUMAN	S	177	ENSP00000311697:A177S	ENSP00000311697:A177S	A	+	1	0	FGF5	81426572	1.000000	0.71417	0.970000	0.41538	0.008000	0.06430	7.895000	0.87343	2.758000	0.94735	0.650000	0.86243	GCA		0.453	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			6	91	1	0	0.00198382	1	0.00200346	6	91				
NPAT	4863	broad.mit.edu	37	11	108068119	108068119	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:108068119A>G	ENST00000278612.8	-	2	171	c.66T>C	c.(64-66)tcT>tcC	p.S22S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	22	Interaction with MIZF.|LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.|Required for activation of histone gene transcription and interaction with MIZF.			S -> Y (in Ref. 6; AAB02735). {ECO:0000305}.	positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCTGGCAGGTAGAAATGAGGT	0.308																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(64-66)tcT>tcC		nuclear protein, ataxia-telangiectasia locus							93.0	93.0	93.0					11																	108068119		1797	4056	5853	SO:0001819	synonymous_variant	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108068119A>G	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.66T>C	11.37:g.108068119A>G							p.S22S	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	2	171	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	22	S -> Y (in Ref. 6; AAB02735).		Interaction with MIZF.|LisH.|Required for activation of histone gene transcription and interaction with MIZF.		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	ENST00000278612.8	37	c.66T>C	CCDS41710.1																																																																																				0.308	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		12	65	0	0	0	1	0	12	65				
S100P	6286	broad.mit.edu	37	4	6695686	6695686	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:6695686C>T	ENST00000296370.3	+	1	891	c.27C>T	c.(25-27)ggC>ggT	p.G9G	AC093323.1_ENST00000596858.1_5'Flank|S100P_ENST00000513778.1_Intron	NM_005980.2	NP_005971.1	P25815	S100P_HUMAN	S100 calcium binding protein P	9					endothelial cell migration (GO:0043542)|response to organic substance (GO:0010033)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|magnesium ion binding (GO:0000287)			prostate(1)	1		Myeloproliferative disorder(84;0.0255)		Colorectal(103;0.011)	Cromoglicic acid(DB01003)	CAGCCATGGGCATGATCATAG	0.587																																						ENST00000296370.3																			0				prostate(1)	1						c.(25-27)ggC>ggT		S100 calcium binding protein P	Cromoglicate(DB01003)						74.0	65.0	68.0					4																	6695686		2203	4300	6503	SO:0001819	synonymous_variant	6286				endothelial cell migration	cytoplasm|nucleus	calcium ion binding|calcium-dependent protein binding|magnesium ion binding	g.chr4:6695686C>T	X65614	CCDS3391.1	4p16	2013-01-10	2001-11-28		ENSG00000163993	ENSG00000163993		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10504	protein-coding gene	gene with protein product		600614	"""S100 calcium-binding protein P"""			8341667, 7759097	Standard	NM_005980		Approved		uc003gjl.3	P25815	OTTHUMG00000090491	ENST00000296370.3:c.27C>T	4.37:g.6695686C>T						S100P_ENST00000513778.1_Intron	p.G9G	NM_005980.2	NP_005971.1	P25815	S100P_HUMAN		Colorectal(103;0.011)	1	891	+		Myeloproliferative disorder(84;0.0255)	9					Q5J7W2	Silent	SNP	ENST00000296370.3	37	c.27C>T	CCDS3391.1																																																																																				0.587	S100P-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206979.1	NM_005980		15	32	0	0	0	1	0	15	32				
C6orf118	168090	broad.mit.edu	37	6	165715064	165715064	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr6:165715064C>T	ENST00000230301.8	-	2	767	c.747G>A	c.(745-747)ctG>ctA	p.L249L	C6orf118_ENST00000543069.1_Silent_p.L145L	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	249										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCACCTGCTGCAGCTTTCTCT	0.607																																						ENST00000543069.1																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(433-435)ctG>ctA		chromosome 6 open reading frame 118							50.0	53.0	52.0					6																	165715064		2203	4300	6503	SO:0001819	synonymous_variant	168090							g.chr6:165715064C>T		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.747G>A	6.37:g.165715064C>T						C6orf118_ENST00000230301.8_Silent_p.L249L	p.L145L			Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	1016	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	249					Q8TC11	Silent	SNP	ENST00000230301.8	37	c.435G>A	CCDS5288.1																																																																																				0.607	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		7	83	0	0	0	1	0	7	83				
LTBP3	4054	broad.mit.edu	37	11	65307998	65307998	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:65307998T>C	ENST00000301873.5	-	22	3333	c.3065A>G	c.(3064-3066)aAg>aGg	p.K1022R	LTBP3_ENST00000532932.1_Missense_Mutation_p.K452R|LTBP3_ENST00000530785.1_Missense_Mutation_p.K25R|LTBP3_ENST00000322147.4_Missense_Mutation_p.K1022R|LTBP3_ENST00000536982.1_Missense_Mutation_p.K648R|LTBP3_ENST00000529189.1_Missense_Mutation_p.K25R	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1022	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GAAGCCCTGCTTGCAGTAGCA	0.652											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(3064-3066)aAg>aGg		latent transforming growth factor beta binding protein 3							70.0	55.0	60.0					11																	65307998		2201	4297	6498	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65307998T>C	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.3065A>G	11.37:g.65307998T>C	ENSP00000301873:p.Lys1022Arg		OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	LTBP3_ENST00000536982.1_Missense_Mutation_p.K648R|LTBP3_ENST00000530785.1_Missense_Mutation_p.K25R|LTBP3_ENST00000529189.1_Missense_Mutation_p.K25R|LTBP3_ENST00000532932.1_Missense_Mutation_p.K452R|LTBP3_ENST00000322147.4_Missense_Mutation_p.K1022R	p.K1022R	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			22	3333	-			1022			EGF-like 10; calcium-binding (Potential).		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.3065A>G	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.484056	0.84854	.	.	ENSG00000168056	ENST00000301874;ENST00000322147;ENST00000301873;ENST00000530785;ENST00000529189;ENST00000532932;ENST00000536982;ENST00000532661;ENST00000530866	T;D;D;T;D;T;T;D	0.92048	1.72;-2.96;-2.26;1.59;-2.96;1.72;1.72;-2.96	4.13	4.13	0.48395	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.244385	0.40302	N	0.001128	D	0.88496	0.6452	N	0.03608	-0.345	0.38733	D	0.953702	P;P;D;P;D;B;D	0.69078	0.717;0.801;0.973;0.698;0.991;0.143;0.997	P;B;P;B;P;B;D	0.80764	0.559;0.376;0.884;0.371;0.846;0.174;0.994	D	0.87326	0.2321	10	0.25106	T	0.35	.	11.102	0.48179	0.0:0.0:0.0:1.0	.	933;648;905;1022;1022;452;648	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2;B4DQL8	.;.;.;LTBP3_HUMAN;.;.;.	R	25;1022;1022;25;25;452;648;25;933	ENSP00000326647:K1022R;ENSP00000301873:K1022R;ENSP00000434315:K25R;ENSP00000434406:K25R;ENSP00000435530:K452R;ENSP00000441912:K648R;ENSP00000436341:K25R;ENSP00000435276:K933R	ENSP00000301873:K1022R	K	-	2	0	LTBP3	65064574	0.653000	0.27358	1.000000	0.80357	0.996000	0.88848	1.684000	0.37649	1.506000	0.48736	0.374000	0.22700	AAG		0.652	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		10	39	0	0	0	1	0	10	39				
MCM3AP	8888	broad.mit.edu	37	21	47665033	47665033	+	Missense_Mutation	SNP	C	C	T	rs17183248	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr21:47665033C>T	ENST00000397708.1	-	24	4980	c.4726G>A	c.(4726-4728)Gtc>Atc	p.V1576I	MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|AP001469.7_ENST00000444966.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.V1576I|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1576			V -> I (in dbSNP:rs17183248). {ECO:0000269|PubMed:16959974, ECO:0000269|Ref.2}.		DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.V1576I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCGTCTTCGACGTACTGAATG	0.542													C|||	43	0.00858626	0.0295	0.0058	5008	,	,		19372	0.0		0.0	False		,,,				2504	0.0					ENST00000397708.1																			1	Substitution - Missense(1)	p.V1576I(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(4726-4728)Gtc>Atc		minichromosome maintenance complex component 3 associated protein		C	ILE/VAL	124,4282	88.2+/-126.9	4,116,2083	54.0	57.0	56.0		4726	-3.3	0.1	21	dbSNP_123	56	2,8598	1.2+/-3.3	0,2,4298	yes	missense	MCM3AP	NM_003906.3	29	4,118,6381	TT,TC,CC		0.0233,2.8143,0.9688	benign	1576/1981	47665033	126,12880	2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47665033C>T	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4726G>A	21.37:g.47665033C>T	ENSP00000380820:p.Val1576Ile					MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.V1576I|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR	p.V1576I			O60318	MCM3A_HUMAN			24	4980	-	Breast(49;0.112)		1576		V -> I (in dbSNP:rs17183248).			C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.4726G>A	CCDS13734.1	13	0.005952380952380952	12	0.024390243902439025	1	0.0027624309392265192	0	0.0	0	0.0	C	5.774	0.327102	0.10900	0.028143	2.33E-4	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03386	3.95;3.95	5.31	-3.27	0.05048	.	0.520403	0.21443	N	0.074454	T	0.00608	0.0020	N	0.12961	0.28	0.09310	N	1	B;B	0.20780	0.009;0.048	B;B	0.09377	0.002;0.004	T	0.47459	-0.9116	10	0.10377	T	0.69	-4.043	8.8884	0.35418	0.0:0.3802:0.1015:0.5183	rs17183248	1576;71	O60318;B3KT88	MCM3A_HUMAN;.	I	1576;1576;71	ENSP00000380820:V1576I;ENSP00000291688:V1576I	ENSP00000291688:V1576I	V	-	1	0	MCM3AP	46489461	0.024000	0.19004	0.135000	0.22099	0.373000	0.29922	-0.355000	0.07671	-0.555000	0.06142	0.561000	0.74099	GTC		0.542	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		20	36	0	0	0	1	0	20	36				
SEMA4G	57715	broad.mit.edu	37	10	102737391	102737391	+	Silent	SNP	G	G	A	rs368885285		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:102737391G>A	ENST00000370250.4	+	4	712	c.339G>A	c.(337-339)acG>acA	p.T113T	RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Silent_p.T113T|SEMA4G_ENST00000210633.3_Silent_p.T113T|SEMA4G_ENST00000519756.1_3'UTR|MIR608_ENST00000384820.1_RNA	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	113	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TCCCACAGACGGAGTGCTTTA	0.572																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(337-339)acG>acA		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G		G	,	0,4406		0,0,2203	199.0	172.0	181.0		339,339	-10.6	0.1	10		181	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SEMA4G	NM_001203244.1,NM_017893.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	113/703,113/844	102737391	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102737391G>A	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.339G>A	10.37:g.102737391G>A						SEMA4G_ENST00000517724.1_Silent_p.T113T|SEMA4G_ENST00000370250.4_Silent_p.T113T|SEMA4G_ENST00000519756.1_3'UTR	p.T113T			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	4	417	+		Colorectal(252;0.234)	113			Sema.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Silent	SNP	ENST00000370250.4	37	c.339G>A																																																																																					0.572	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			29	56	0	0	0	1	0	29	56				
ANKMY1	51281	broad.mit.edu	37	2	241468861	241468861	+	Silent	SNP	G	G	A	rs147984796		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:241468861G>A	ENST00000272972.3	-	4	493	c.279C>T	c.(277-279)gaC>gaT	p.D93D	ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000391987.1_Silent_p.D93D|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000401804.1_Silent_p.D182D|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000536462.1_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	93							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		ACAGCCCCACGTCCTGGCTGC	0.592																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(277-279)gaC>gaT		ankyrin repeat and MYND domain containing 1		G	,	0,4406		0,0,2203	42.0	48.0	46.0		279,	-7.9	0.7	2	dbSNP_134	46	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,intron	ANKMY1	NM_016552.2,NM_017844.2	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	93/942,	241468861	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	51281						zinc ion binding	g.chr2:241468861G>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.279C>T	2.37:g.241468861G>A						ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000401804.1_Silent_p.D182D|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000272972.3_Silent_p.D93D	p.D93D			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	5	645	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	93					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000272972.3	37	c.279C>T	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	G	9.510	1.105582	0.20632	0.0	3.49E-4	ENSG00000144504	ENST00000443318	.	.	.	4.91	-7.95	0.01148	.	.	.	.	.	T	0.52805	0.1757	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60244	-0.7301	4	.	.	.	-8.4016	11.6889	0.51503	0.7558:0.0:0.1395:0.1047	.	.	.	.	C	38	.	.	R	-	1	0	ANKMY1	241117534	0.647000	0.27304	0.653000	0.29593	0.864000	0.49448	-0.285000	0.08410	-1.730000	0.01362	-0.794000	0.03295	CGT		0.592	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		5	36	0	0	0	1	0	5	36				
KMT2A	4297	broad.mit.edu	37	11	118343381	118343381	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:118343381C>T	ENST00000389506.5	+	3	1507	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	KMT2A_ENST00000534358.1_Missense_Mutation_p.R503W|KMT2A_ENST00000354520.4_Missense_Mutation_p.R503W			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	503					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCCTGAGGAGCGGAGCGATAC	0.502																																						ENST00000534358.1																			0											c.(1507-1509)Cgg>Tgg		lysine (K)-specific methyltransferase 2A							114.0	120.0	118.0					11																	118343381		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118343381C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1507C>T	11.37:g.118343381C>T	ENSP00000374157:p.Arg503Trp					KMT2A_ENST00000354520.4_Missense_Mutation_p.R503W|KMT2A_ENST00000389506.5_Missense_Mutation_p.R503W	p.R503W	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	1530	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.1507C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	8.337	0.827840	0.16749	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520	D;T;D;D	0.82433	-1.61;3.35;-1.61;-1.58	5.13	4.21	0.49690	.	0.142736	0.49305	D	0.000158	T	0.68641	0.3023	N	0.19112	0.55	0.36192	D	0.850118	D;D;D	0.59357	0.985;0.985;0.979	B;B;B	0.37508	0.232;0.232;0.252	T	0.77264	-0.2652	10	0.72032	D	0.01	.	11.6189	0.51106	0.1399:0.7255:0.1347:0.0	.	503;503;536	E9PQG7;Q03164;E9PR05	.;MLL1_HUMAN;.	W	503;536;503;503	ENSP00000436786:R503W;ENSP00000432391:R536W;ENSP00000374157:R503W;ENSP00000346516:R503W	ENSP00000346516:R503W	R	+	1	2	MLL	117848591	1.000000	0.71417	0.986000	0.45419	0.987000	0.75469	2.395000	0.44459	1.272000	0.44329	0.491000	0.48974	CGG		0.502	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		22	103	0	0	0	1	0	22	103				
EPPK1	83481	broad.mit.edu	37	8	144940328	144940328	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:144940328C>T	ENST00000525985.1	-	2	7165	c.7094G>A	c.(7093-7095)cGc>cAc	p.R2365H				P58107	EPIPL_HUMAN	epiplakin 1	2365						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAGTAGCCGCGCCGGTAGGC	0.692																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7093-7095)cGc>cAc		epiplakin 1							222.0	214.0	217.0					8																	144940328		2180	4267	6447	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940328C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7094G>A	8.37:g.144940328C>T	ENSP00000436337:p.Arg2365His						p.R2365H			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	7165	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2365					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.7094G>A		.	.	.	.	.	.	.	.	.	.	C	29.0	4.972835	0.92919	.	.	ENSG00000227184	ENST00000525985	T	0.79247	-1.25	4.43	3.55	0.40652	.	.	.	.	.	D	0.89083	0.6614	M	0.92412	3.305	0.39114	D	0.961524	D	0.89917	1.0	D	0.97110	1.0	D	0.89917	0.4056	9	0.45353	T	0.12	.	10.4455	0.44490	0.0:0.9039:0.0:0.0961	.	2365	E9PPU0	.	H	2365	ENSP00000436337:R2365H	ENSP00000436337:R2365H	R	-	2	0	EPPK1	145012316	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.732000	0.62029	1.215000	0.43411	0.591000	0.81541	CGC		0.692	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		12	279	0	0	0	1	0	12	279				
CACNA1A	773	broad.mit.edu	37	19	13325397	13325397	+	Silent	SNP	G	G	A	rs368042511		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:13325397G>A	ENST00000360228.5	-	39	5756	c.5757C>T	c.(5755-5757)gaC>gaT	p.D1919D	CACNA1A_ENST00000573710.2_Silent_p.D1920D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1920					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCAGCTCAGCGTCCATCTGCT	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20186	0.0		0.0	False		,,,				2504	0.0					ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(5755-5757)gaC>gaT		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	G	,,,,	9,4365		0,9,2178	54.0	59.0	57.0		5775,5760,5757,5766,5775	-2.7	0.9	19		57	0,8538		0,0,4269	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	0,9,6447	AA,AG,GG		0.0,0.2058,0.0697	,,,,	1925/2267,1920/2262,1919/2507,1922/2264,1925/2513	13325397	9,12903	2187	4269	6456	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13325397G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5757C>T	19.37:g.13325397G>A						CACNA1A_ENST00000573710.2_Silent_p.D1920D	p.D1919D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		39	5756	-			1920					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.5757C>T	CCDS45998.1																																																																																				0.582	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		9	14	0	0	0	1	0	9	14				
EMX2	2018	broad.mit.edu	37	10	119303006	119303006	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:119303006G>A	ENST00000553456.3	+	1	1052	c.228G>A	c.(226-228)tcG>tcA	p.S76S	EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Silent_p.S76S|EMX2OS_ENST00000440007.1_RNA|EMX2OS_ENST00000450314.2_RNA	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	76					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		AGGCGGTCTCGCACCCGCCCA	0.726																																						ENST00000553456.3																			0				endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12						c.(226-228)tcG>tcA		empty spiracles homeobox 2							11.0	14.0	13.0					10																	119303006		2180	4218	6398	SO:0001819	synonymous_variant	2018					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:119303006G>A	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.228G>A	10.37:g.119303006G>A						EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Silent_p.S76S	p.S76S	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN		all cancers(201;0.0133)	1	1052	+		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)	76					G3V305|Q96NN8|Q9BQF4	Silent	SNP	ENST00000553456.3	37	c.228G>A	CCDS7601.1																																																																																				0.726	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098		3	12	0	0	0	1	0	3	12				
OR2T27	403239	broad.mit.edu	37	1	248813806	248813806	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:248813806C>A	ENST00000344889.3	-	1	379	c.380G>T	c.(379-381)tGc>tTc	p.C127F		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGAGGGTTGCAGATGGCTAC	0.542																																						ENST00000344889.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(379-381)tGc>tTc		olfactory receptor, family 2, subfamily T, member 27							95.0	48.0	64.0					1																	248813806		2202	4270	6472	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813806C>A		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.380G>T	1.37:g.248813806C>A	ENSP00000342008:p.Cys127Phe						p.C127F	NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	379	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	127						Missense_Mutation	SNP	ENST00000344889.3	37	c.380G>T	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	10.37	1.331281	0.24167	.	.	ENSG00000187701	ENST00000344889	T	0.34472	1.36	3.3	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000571	T	0.70263	0.3204	H	0.98089	4.145	0.35768	D	0.820661	D	0.89917	1.0	D	0.70487	0.969	T	0.82424	-0.0464	10	0.87932	D	0	.	11.0673	0.47982	0.187:0.813:0.0:0.0	.	127	Q8NH04	O2T27_HUMAN	F	127	ENSP00000342008:C127F	ENSP00000342008:C127F	C	-	2	0	OR2T27	246880429	0.997000	0.39634	0.070000	0.20053	0.068000	0.16541	3.751000	0.55165	0.713000	0.32060	0.194000	0.17425	TGC		0.542	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		14	117	1	0	9.16793e-09	1	9.69045e-09	14	117				
CC2D1A	54862	broad.mit.edu	37	19	14020732	14020732	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:14020732G>A	ENST00000318003.7	+	2	398	c.157G>A	c.(157-159)Ggg>Agg	p.G53R	CC2D1A_ENST00000589606.1_Missense_Mutation_p.G53R	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	53					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGCTTTGGTCGGGGGCCAGCC	0.577																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(157-159)Ggg>Agg		coiled-coil and C2 domain containing 1A							66.0	68.0	67.0					19																	14020732		1934	4137	6071	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14020732G>A	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.157G>A	19.37:g.14020732G>A	ENSP00000313601:p.Gly53Arg					CC2D1A_ENST00000589606.1_Missense_Mutation_p.G53R	p.G53R	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		2	398	+			53					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.157G>A	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568755	0.86439	.	.	ENSG00000132024	ENST00000318003;ENST00000389233	T	0.21361	2.01	5.43	5.43	0.79202	.	0.057995	0.64402	D	0.000002	T	0.39517	0.1081	M	0.62154	1.92	0.54753	D	0.999988	D;D	0.69078	0.997;0.996	P;P	0.57720	0.826;0.736	T	0.09907	-1.0653	10	0.52906	T	0.07	-26.5584	16.153	0.81636	0.0:0.0:1.0:0.0	.	53;53	Q6P1N0-2;Q6P1N0	.;C2D1A_HUMAN	R	53;28	ENSP00000313601:G53R	ENSP00000313601:G53R	G	+	1	0	CC2D1A	13881732	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	7.582000	0.82546	2.547000	0.85894	0.655000	0.94253	GGG		0.577	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		11	30	0	0	0	1	0	11	30				
OBSCN	84033	broad.mit.edu	37	1	228475944	228475944	+	Missense_Mutation	SNP	C	C	T	rs375232996		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:228475944C>T	ENST00000422127.1	+	37	10038	c.9994C>T	c.(9994-9996)Cgt>Tgt	p.R3332C	OBSCN_ENST00000570156.2_Missense_Mutation_p.R3761C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R451C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R451C|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2179C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3332C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3332	Ig-like 33.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGCAGATCCGTGGCCTGGC	0.607																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(11281-11283)Cgt>Tgt		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		C	CYS/ARG,CYS/ARG	1,4301		0,1,2150	118.0	126.0	123.0		9994,9994	-0.1	0.0	1		123	1,8499		0,1,4249	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	180,180	0,2,6399	TT,TC,CC		0.0118,0.0232,0.0156	benign,benign	3332/7969,3332/6621	228475944	2,12800	2151	4250	6401	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228475944C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9994C>T	1.37:g.228475944C>T	ENSP00000409493:p.Arg3332Cys					OBSCN_ENST00000366709.4_Missense_Mutation_p.R451C|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3332C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R451C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3332C|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2179C	p.R3761C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			42	11355	+		Prostate(94;0.0405)	2797			Ig-like 38.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.11281C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	8.579	0.881801	0.17467	2.32E-4	1.18E-4	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.05	-0.144	0.13440	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.790876	0.11710	N	0.537003	T	0.59390	0.2190	M	0.67397	2.05	0.21984	N	0.999439	B;B	0.15141	0.012;0.006	B;B	0.20184	0.028;0.009	T	0.50566	-0.8813	10	0.37606	T	0.19	.	5.8001	0.18410	0.1229:0.6033:0.0:0.2738	.	3332;3332	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	3332;3332;451;451;2179	ENSP00000284548:R3332C;ENSP00000409493:R3332C;ENSP00000355668:R451C;ENSP00000355670:R451C;ENSP00000352613:R2179C	ENSP00000284548:R3332C	R	+	1	0	OBSCN	226542567	0.000000	0.05858	0.018000	0.16275	0.011000	0.07611	-0.269000	0.08596	-0.171000	0.10797	-0.969000	0.02612	CGT		0.607	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		17	42	0	0	0	1	0	17	42				
PCDHB1	29930	broad.mit.edu	37	5	140431844	140431844	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:140431844G>A	ENST00000306549.3	+	1	866	c.789G>A	c.(787-789)acG>acA	p.T263T		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	263	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGCCACGGTGACTGCCG	0.532																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(787-789)acG>acA									51.0	49.0	50.0					5																	140431844		2203	4300	6503	SO:0001819	synonymous_variant	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140431844G>A	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.789G>A	5.37:g.140431844G>A							p.T263T	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	866	+			263			Cadherin 3.		Q2M257	Silent	SNP	ENST00000306549.3	37	c.789G>A	CCDS4243.1																																																																																				0.532	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		6	30	0	0	0	1	0	6	30				
LOC101927209	101927209	broad.mit.edu	37	1	142713152	142713152	+	lincRNA	SNP	T	T	G	rs2494809	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:142713152T>G	ENST00000610091.1	-	0	2506																											TGCTGTTCAATGCACGGATTT	0.368													.|||	2410	0.48123	0.1785	0.755	5008	,	,		20408	0.4097		0.7475	False		,,,				2504	0.4959					ENST00000369381.2																			0																																																			0							g.chr1:142713152T>G																													1.37:g.142713152T>G														0	1453	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.368	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	77	0	0	0	1	0	5	77				
IGDCC3	9543	broad.mit.edu	37	15	65622631	65622631	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:65622631C>A	ENST00000327987.4	-	11	2109	c.1858G>T	c.(1858-1860)Gcc>Tcc	p.A620S	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	620					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGCCCTCACCTGTCCTCTCA	0.567																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.e11+1		immunoglobulin superfamily, DCC subclass, member 3							156.0	127.0	137.0					15																	65622631		2201	4299	6500	SO:0001630	splice_region_variant	9543							g.chr15:65622631C>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1858+1G>T	15.37:g.65622631C>A							p.A620_splice	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			11	2109	-			620					O95215	Splice_Site	SNP	ENST00000327987.4	37	c.1858_splice	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000125	0.54147	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.65916	-0.18	5.26	4.31	0.51392	.	0.563532	0.17466	N	0.173257	T	0.47637	0.1456	L	0.27053	0.805	0.35470	D	0.797286	B	0.17465	0.022	B	0.10450	0.005	T	0.49844	-0.8896	9	.	.	.	-12.4775	12.4354	0.55596	0.0:0.9144:0.0:0.0856	.	620	Q8IVU1	IGDC3_HUMAN	S	620;483	ENSP00000332773:A620S	.	A	-	1	0	IGDCC3	63409684	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.590000	0.61013	1.132000	0.42129	0.655000	0.94253	GCC		0.567	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884	Missense_Mutation	9	78	1	0	3.09899e-07	1	3.25035e-07	9	78				
KCNC1	3746	broad.mit.edu	37	11	17793341	17793341	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:17793341C>T	ENST00000379472.3	+	2	730	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	KCNC1_ENST00000265969.6_Missense_Mutation_p.R234C	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	234					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.R234C(1)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CACGCAAGTGCGCTACTACCG	0.582																																						ENST00000379472.3																			1	Substitution - Missense(1)	p.R234C(1)	upper_aerodigestive_tract(1)	breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(700-702)Cgc>Tgc		potassium voltage-gated channel, Shaw-related subfamily, member 1							263.0	211.0	229.0					11																	17793341		2200	4293	6493	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793341C>T	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.700C>T	11.37:g.17793341C>T	ENSP00000368785:p.Arg234Cys					KCNC1_ENST00000265969.6_Missense_Mutation_p.R234C	p.R234C	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			2	730	+			234					K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.700C>T	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307031	0.40795	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97232	-4.3;-4.3	4.7	4.7	0.59300	.	3.542160	0.01208	N	0.007765	D	0.97504	0.9183	L	0.50333	1.59	0.58432	D	0.999998	D;D	0.76494	0.981;0.999	P;P	0.56216	0.586;0.794	D	0.90736	0.4646	10	0.38643	T	0.18	.	12.7317	0.57201	0.1644:0.8356:0.0:0.0	.	234;234	Q3KNS8;P48547	.;KCNC1_HUMAN	C	234	ENSP00000265969:R234C;ENSP00000368785:R234C	ENSP00000265969:R234C	R	+	1	0	KCNC1	17749917	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	3.141000	0.50593	2.166000	0.68216	0.505000	0.49811	CGC		0.582	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		23	83	0	0	0	1	0	23	83				
SHANK2	22941	broad.mit.edu	37	11	70331617	70331617	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:70331617G>A	ENST00000423696.2	-	15	3680	c.3644C>T	c.(3643-3645)gCc>gTc	p.A1215V	SHANK2_ENST00000338508.4_Missense_Mutation_p.A1595V|SHANK2_ENST00000409161.1_Missense_Mutation_p.A998V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A999V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1215					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGAACCTTGGCCATCCCAGG	0.577																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(4783-4785)gCc>gTc		SH3 and multiple ankyrin repeat domains 2							59.0	65.0	63.0					11																	70331617		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70331617G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3644C>T	11.37:g.70331617G>A	ENSP00000394536:p.Ala1215Val					SHANK2_ENST00000409161.1_Missense_Mutation_p.A998V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A999V|SHANK2_ENST00000423696.2_Missense_Mutation_p.A1215V	p.A1595V			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	4783	-			1215					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.4784C>T		.	.	.	.	.	.	.	.	.	.	G	11.39	1.626095	0.28978	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.40225	2.32;2.32;3.04;1.04;2.45;2.45	5.42	2.57	0.30868	.	0.606682	0.19382	N	0.115634	T	0.32763	0.0840	L	0.44542	1.39	0.22401	N	0.999136	B;B;B	0.16802	0.011;0.014;0.019	B;B;B	0.18871	0.007;0.023;0.016	T	0.19943	-1.0290	10	0.23302	T	0.38	.	10.7066	0.45958	0.2056:0.0:0.7944:0.0	.	1215;1594;999	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	V	999;998;873;1595;1215;1233;1218	ENSP00000399423:A999V;ENSP00000386491:A998V;ENSP00000402944:A873V;ENSP00000345193:A1595V;ENSP00000394536:A1215V;ENSP00000294018:A1218V	ENSP00000294018:A1218V	A	-	2	0	SHANK2	70009265	0.759000	0.28416	0.000000	0.03702	0.997000	0.91878	4.152000	0.58111	0.286000	0.22352	0.655000	0.94253	GCC		0.577	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		4	55	0	0	0	1	0	4	55				
NIM1K	167359	broad.mit.edu	37	5	43280399	43280399	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:43280399C>T	ENST00000512796.1	+	4	2378	c.879C>T	c.(877-879)caC>caT	p.H293H	NIM1_ENST00000326035.2_Silent_p.H293H			Q8IY84	NIM1_HUMAN		293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										TACCGCCGCACGTGTCAGAGC	0.532																																						ENST00000512796.1																			0											c.(877-879)caC>caT									82.0	71.0	75.0					5																	43280399		2203	4300	6503	SO:0001819	synonymous_variant	0						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:43280399C>T																												ENST00000512796.1:c.879C>T	5.37:g.43280399C>T						NIM1_ENST00000326035.2_Silent_p.H293H	p.H293H			Q8IY84	NIM1_HUMAN			4	2378	+			293			Protein kinase.		B3KVM1	Silent	SNP	ENST00000512796.1	37	c.879C>T	CCDS3943.1																																																																																				0.532	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1			7	61	0	0	0	1	0	7	61				
VILL	50853	broad.mit.edu	37	3	38038579	38038579	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:38038579C>A	ENST00000283713.6	+	6	728	c.462C>A	c.(460-462)tcC>tcA	p.S154S	VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Silent_p.S154S			O15195	VILL_HUMAN	villin-like	154					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGAGCTCTCCTGGAACAGCT	0.542											OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(460-462)tcC>tcA		villin-like							123.0	114.0	117.0					3																	38038579		2203	4300	6503	SO:0001819	synonymous_variant	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38038579C>A		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.462C>A	3.37:g.38038579C>A			OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	VILL_ENST00000383759.2_Silent_p.S154S|VILL_ENST00000465644.1_Intron	p.S154S			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	728	+			154					A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	c.462C>A	CCDS2670.2																																																																																				0.542	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		6	71	1	0	2.0095e-06	1	2.09687e-06	6	71				
C3orf70	285382	broad.mit.edu	37	3	184801249	184801249	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:184801249G>A	ENST00000335012.2	-	2	489	c.299C>T	c.(298-300)tCg>tTg	p.S100L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	100										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						TTCGGTGAGCGAGACTGAGAT	0.483																																						ENST00000335012.2																			0				breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						c.(298-300)tCg>tTg		chromosome 3 open reading frame 70							78.0	80.0	79.0					3																	184801249		2203	4300	6503	SO:0001583	missense	285382							g.chr3:184801249G>A		CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.299C>T	3.37:g.184801249G>A	ENSP00000334974:p.Ser100Leu						p.S100L	NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN			2	489	-			100					B2RNY2|B9EH83	Missense_Mutation	SNP	ENST00000335012.2	37	c.299C>T	CCDS33900.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881598	0.91740	.	.	ENSG00000187068	ENST00000335012	.	.	.	5.79	5.79	0.91817	.	0.124759	0.56097	D	0.000027	T	0.57315	0.2045	L	0.29908	0.895	0.80722	D	1	D	0.62365	0.991	P	0.48901	0.594	T	0.61232	-0.7104	9	0.72032	D	0.01	.	19.6504	0.95798	0.0:0.0:1.0:0.0	.	100	A6NLC5	CC070_HUMAN	L	100	.	ENSP00000334974:S100L	S	-	2	0	C3orf70	186283943	1.000000	0.71417	0.790000	0.31976	0.641000	0.38312	9.476000	0.97823	2.733000	0.93635	0.655000	0.94253	TCG		0.483	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1	NM_001025266		7	83	0	0	0	1	0	7	83				
ALX3	257	broad.mit.edu	37	1	110603475	110603475	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:110603475G>A	ENST00000369792.4	-	4	999	c.912C>T	c.(910-912)ccC>ccT	p.P304P	RP4-773N10.4_ENST00000596959.1_RNA|RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	304					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCAGGGTGGGGGGAAAGCCAT	0.617																																						ENST00000369792.4																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(910-912)ccC>ccT		ALX homeobox 3							34.0	36.0	35.0					1																	110603475		2203	4300	6503	SO:0001819	synonymous_variant	257					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:110603475G>A	AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"""Homeoboxes / PRD class"""	449	protein-coding gene	gene with protein product		606014	"""aristaless-like homeobox 3"", ""frontonasal dysplasia"""	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.912C>T	1.37:g.110603475G>A						RP4-773N10.4_ENST00000554749.1_RNA	p.P304P	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)	4	999	-		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	304					O95075|Q5T8M4	Silent	SNP	ENST00000369792.4	37	c.912C>T	CCDS819.1																																																																																				0.617	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492		6	31	0	0	0	1	0	6	31				
MNS1	55329	broad.mit.edu	37	15	56735681	56735681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:56735681G>A	ENST00000260453.3	-	7	1122	c.958C>T	c.(958-960)Cga>Tga	p.R320*	TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	320	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		AATTCTTGTCGCACTTGTTCC	0.294																																						ENST00000260453.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(958-960)Cga>Tga		meiosis-specific nuclear structural 1							132.0	124.0	127.0					15																	56735681		2192	4291	6483	SO:0001587	stop_gained	55329				meiosis			g.chr15:56735681G>A	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.958C>T	15.37:g.56735681G>A	ENSP00000260453:p.Arg320*					TEX9_ENST00000537232.1_Intron|TEX9_ENST00000352903.2_Intron	p.R320*	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	7	1122	-			320			Glu-rich.		Q8IYT6|Q9NUP4	Nonsense_Mutation	SNP	ENST00000260453.3	37	c.958C>T	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	G	37	6.299496	0.97453	.	.	ENSG00000138587	ENST00000260453	.	.	.	5.76	2.48	0.30137	.	0.175195	0.51477	D	0.000092	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.208	14.4127	0.67124	0.0:0.0:0.6097:0.3903	.	.	.	.	X	320	.	ENSP00000260453:R320X	R	-	1	2	MNS1	54522973	0.111000	0.22076	0.997000	0.53966	0.993000	0.82548	1.464000	0.35288	0.731000	0.32448	0.637000	0.83480	CGA		0.294	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		7	27	0	0	0	1	0	7	27				
DHX57	90957	broad.mit.edu	37	2	39095333	39095333	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:39095333C>T	ENST00000295373.6	-	2	341	c.215G>A	c.(214-216)cGc>cAc	p.R72H	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	72							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CCTGGAAGGGCGCCTTGATTC	0.458																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(214-216)cGc>cAc		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							106.0	102.0	103.0					2																	39095333		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095333C>T	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.215G>A	2.37:g.39095333C>T	ENSP00000295373:p.Arg72His						p.R72H	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	341	-		all_hematologic(82;0.248)	72					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.215G>A	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594807	0.28445	.	.	ENSG00000163214	ENST00000295373	T	0.02916	4.11	4.24	-3.58	0.04597	.	0.575699	0.14206	N	0.334379	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.022;0.001	B;B	0.14578	0.011;0.001	T	0.43956	-0.9359	10	0.31617	T	0.26	.	1.9332	0.03331	0.1511:0.3796:0.1035:0.3658	.	72;72	Q6P158-2;Q6P158	.;DHX57_HUMAN	H	72	ENSP00000295373:R72H	ENSP00000295373:R72H	R	-	2	0	DHX57	38948837	0.000000	0.05858	0.054000	0.19295	0.885000	0.51271	0.016000	0.13377	-0.484000	0.06763	-0.310000	0.09108	CGC		0.458	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		7	57	0	0	0	1	0	7	57				
GALNT3	2591	broad.mit.edu	37	2	166621492	166621492	+	Missense_Mutation	SNP	G	G	A	rs201078015		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:166621492G>A	ENST00000392701.3	-	3	1365	c.590C>T	c.(589-591)gCg>gTg	p.A197V		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	197	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						CGTGGACCACGCTTCATTATG	0.423																																						ENST00000392701.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.(589-591)gCg>gTg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)							126.0	117.0	120.0					2																	166621492		2203	4300	6503	SO:0001583	missense	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166621492G>A		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.590C>T	2.37:g.166621492G>A	ENSP00000376465:p.Ala197Val						p.A197V	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN			3	1365	-			197			Catalytic subdomain A.		Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	c.590C>T	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385837	0.61956	.	.	ENSG00000115339	ENST00000392701;ENST00000412248	T;T	0.62105	0.05;0.05	5.8	5.8	0.92144	Glycosyl transferase, family 2 (1);	0.052929	0.85682	D	0.000000	D	0.82737	0.5102	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.84915	0.0850	10	0.87932	D	0	.	20.0463	0.97608	0.0:0.0:1.0:0.0	.	197	Q14435	GALT3_HUMAN	V	197	ENSP00000376465:A197V;ENSP00000412643:A197V	ENSP00000376465:A197V	A	-	2	0	GALNT3	166329738	1.000000	0.71417	0.967000	0.41034	0.027000	0.11550	7.957000	0.87870	2.729000	0.93468	0.561000	0.74099	GCG		0.423	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		17	26	0	0	0	1	0	17	26				
SWAP70	23075	broad.mit.edu	37	11	9749627	9749627	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:9749627C>T	ENST00000318950.6	+	5	773	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	SWAP70_ENST00000447399.2_Missense_Mutation_p.R166W	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	224	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GGGCCACAGACGGAAAAACTG	0.348																																						ENST00000318950.6																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11						c.(670-672)Cgg>Tgg		SWAP switching B-cell complex 70kDa subunit							106.0	104.0	104.0					11																	9749627		2201	4294	6495	SO:0001583	missense	23075					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding	g.chr11:9749627C>T	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.670C>T	11.37:g.9749627C>T	ENSP00000315630:p.Arg224Trp					SWAP70_ENST00000447399.2_Missense_Mutation_p.R166W	p.R224W	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN		all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)	5	773	+			224			PH.		D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	ENST00000318950.6	37	c.670C>T	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221408	0.79464	.	.	ENSG00000133789	ENST00000447399;ENST00000318950;ENST00000534662	T;T;T	0.13307	2.6;2.6;2.6	5.97	3.93	0.45458	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.043429	0.85682	D	0.000000	T	0.41627	0.1167	M	0.84511	2.7	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.962;0.996;0.985	T	0.45101	-0.9284	10	0.87932	D	0	-22.1796	15.6172	0.76775	0.2664:0.7336:0.0:0.0	.	166;224;166	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	W	166;224;75	ENSP00000399056:R166W;ENSP00000315630:R224W;ENSP00000435587:R75W	ENSP00000315630:R224W	R	+	1	2	SWAP70	9706203	0.998000	0.40836	0.988000	0.46212	0.995000	0.86356	1.387000	0.34430	2.838000	0.97847	0.561000	0.74099	CGG		0.348	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		5	55	0	0	0	1	0	5	55				
DUSP1	1843	broad.mit.edu	37	5	172195842	172195842	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:172195842C>T	ENST00000239223.3	-	4	1269	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	343	Tyrosine-protein phosphatase.				cellular response to hormone stimulus (GO:0032870)|endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of meiotic cell cycle (GO:0051447)|peptidyl-threonine dephosphorylation (GO:0035970)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|protein dephosphorylation (GO:0006470)|regulation of apoptotic process (GO:0042981)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to light stimulus (GO:0009416)|response to oxidative stress (GO:0006979)|response to retinoic acid (GO:0032526)|response to testosterone (GO:0033574)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		GGGATGGAGACGGGGAAGTTG	0.642																																						ENST00000239223.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1027-1029)Gtc>Atc		dual specificity phosphatase 1							111.0	106.0	107.0					5																	172195842		2203	4300	6503	SO:0001583	missense	1843				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr5:172195842C>T	X68277	CCDS4380.1	5q35.1	2011-06-09			ENSG00000120129	ENSG00000120129		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3064	protein-coding gene	gene with protein product		600714		PTPN10		1406996, 7806236	Standard	NM_004417		Approved	HVH1, CL100, MKP-1	uc003mbv.2	P28562	OTTHUMG00000130523	ENST00000239223.3:c.1027G>A	5.37:g.172195842C>T	ENSP00000239223:p.Val343Ile					RP11-779O18.3_ENST00000523005.1_RNA	p.V343I	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)	4	1269	-	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	343			Tyrosine-protein phosphatase.		D3DQL9|Q2V508	Missense_Mutation	SNP	ENST00000239223.3	37	c.1027G>A	CCDS4380.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971562	0.92919	.	.	ENSG00000120129	ENST00000239223;ENST00000457103;ENST00000434080	T	0.02301	4.35	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.06554	0.0168	L	0.44542	1.39	0.58432	D	0.999998	D;D	0.71674	0.996;0.998	P;P	0.54060	0.606;0.741	T	0.33904	-0.9850	10	0.51188	T	0.08	.	18.8778	0.92345	0.0:1.0:0.0:0.0	.	343;300	P28562;B4DNT2	DUS1_HUMAN;.	I	343;316;278	ENSP00000239223:V343I	ENSP00000239223:V343I	V	-	1	0	DUSP1	172128448	1.000000	0.71417	0.968000	0.41197	0.975000	0.68041	7.776000	0.85560	2.522000	0.85027	0.655000	0.94253	GTC		0.642	DUSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252943.3	NM_004417		7	60	0	0	0	1	0	7	60				
SBNO2	22904	broad.mit.edu	37	19	1106407	1106407	+	IGR	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:1106407C>T	ENST00000361757.3	-	0	4922				GPX4_ENST00000354171.8_Silent_p.I170I|GPX4_ENST00000589115.1_Missense_Mutation_p.S162L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)						bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTCCTCATCGACAAGAACG	0.652																																						ENST00000589115.1																			0				endometrium(1)|kidney(2)	3						c.(484-486)tCg>tTg		glutathione peroxidase 4	Glutathione(DB00143)						56.0	64.0	61.0					19																	1106407		2035	4185	6220	SO:0001628	intergenic_variant	2879				multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity	g.chr19:1106407C>T	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9			19.37:g.1106407C>T						GPX4_ENST00000354171.8_Silent_p.I170I	p.S162L			P36969	GPX4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	521	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	0					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.485C>T	CCDS45894.1																																																																																				0.652	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		10	36	0	0	0	1	0	10	36				
TTF1	7270	broad.mit.edu	37	9	135277260	135277260	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr9:135277260G>A	ENST00000334270.2	-	2	988	c.949C>T	c.(949-951)Cat>Tat	p.H317Y		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	317					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GTTTCACCATGCAGGCCCACA	0.493																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(949-951)Cat>Tat		transcription termination factor, RNA polymerase I							119.0	115.0	116.0					9																	135277260		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277260G>A	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.949C>T	9.37:g.135277260G>A	ENSP00000333920:p.His317Tyr						p.H317Y	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	988	-		Myeloproliferative disorder(178;0.204)	317					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.949C>T	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	3.968	-0.008893	0.07727	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.10099	2.91	1.72	-3.44	0.04796	.	.	.	.	.	T	0.04770	0.0129	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36696	-0.9737	9	0.59425	D	0.04	.	5.9923	0.19474	0.0:0.2602:0.5811:0.1587	.	317	Q15361	TTF1_HUMAN	Y	317	ENSP00000333920:H317Y	ENSP00000245588:H317Y	H	-	1	0	TTF1	134267081	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.440000	0.21592	-1.400000	0.02061	-0.499000	0.04595	CAT		0.493	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		39	85	0	0	0	1	0	39	85				
RNF43	54894	broad.mit.edu	37	17	56435189	56435189	+	Nonsense_Mutation	SNP	G	G	A	rs371553160		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:56435189G>A	ENST00000584437.1	-	8	3903	c.1948C>T	c.(1948-1950)Cga>Tga	p.R650*	RNF43_ENST00000581868.1_Nonsense_Mutation_p.R523*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R650*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.R523*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R609*|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R609*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.R650*			Q68DV7	RNF43_HUMAN	ring finger protein 43	650	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R650*(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTGGGTGTCGGGCAGAGAGG	0.637																																						ENST00000584437.1																			1	Substitution - Nonsense(1)	p.R650*(1)	central_nervous_system(1)	NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1948-1950)Cga>Tga		ring finger protein 43		G	stop/ARG	0,4400		0,0,2200	68.0	79.0	75.0		1948	3.7	0.8	17		75	1,8587	1.2+/-3.3	0,1,4293	no	stop-gained	RNF43	NM_017763.4		0,1,6493	AA,AG,GG		0.0116,0.0,0.0077		650/784	56435189	1,12987	2200	4294	6494	SO:0001587	stop_gained	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435189G>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1948C>T	17.37:g.56435189G>A	ENSP00000463069:p.Arg650*					RNF43_ENST00000577625.1_Nonsense_Mutation_p.R523*|RNF43_ENST00000581868.1_Nonsense_Mutation_p.R523*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R609*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R609*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.R650*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R650*|BZRAP1-AS1_ENST00000583841.1_RNA	p.R650*			Q68DV7	RNF43_HUMAN			8	3903	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		650			Pro-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Nonsense_Mutation	SNP	ENST00000584437.1	37	c.1948C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	41	8.740716	0.98935	0.0	1.16E-4	ENSG00000108375	ENST00000407977;ENST00000500597	.	.	.	4.66	3.66	0.41972	.	0.405180	0.18473	N	0.140168	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3214	9.5781	0.39470	0.0:0.0:0.7814:0.2186	.	.	.	.	X	650;609	.	ENSP00000385328:R650X	R	-	1	2	RNF43	53790188	0.998000	0.40836	0.807000	0.32361	0.427000	0.31564	3.077000	0.50089	1.117000	0.41842	0.205000	0.17691	CGA		0.637	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		32	72	0	0	0	1	0	32	72				
PLAT	5327	broad.mit.edu	37	8	42046568	42046568	+	Missense_Mutation	SNP	G	G	A	rs375926300		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:42046568G>A	ENST00000220809.4	-	4	393	c.137C>T	c.(136-138)aCg>aTg	p.T46M	PLAT_ENST00000524009.1_Missense_Mutation_p.T46M|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000429710.2_Missense_Mutation_p.T46M|PLAT_ENST00000519510.1_Missense_Mutation_p.T46M|PLAT_ENST00000429089.2_Missense_Mutation_p.T46M|PLAT_ENST00000270189.6_Missense_Mutation_p.T46M	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	46	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.|Important for binding to annexin A2.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	TATCATCTGCGTTTTTTCATC	0.493																																						ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(136-138)aCg>aTg		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	G	MET/THR,	0,4406		0,0,2203	151.0	146.0	148.0		137,	4.5	0.0	8		148	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	PLAT	NM_000930.3,NM_033011.2	81,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	46/563,	42046568	1,13005	2203	4300	6503	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42046568G>A		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.137C>T	8.37:g.42046568G>A	ENSP00000220809:p.Thr46Met					PLAT_ENST00000352041.3_Intron|PLAT_ENST00000270189.6_Missense_Mutation_p.T46M|PLAT_ENST00000519510.1_Missense_Mutation_p.T46M|PLAT_ENST00000524009.1_Missense_Mutation_p.T46M|PLAT_ENST00000429710.2_Missense_Mutation_p.T46M|PLAT_ENST00000429089.2_Missense_Mutation_p.T46M	p.T46M	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		4	393	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	46			Fibronectin type-I.|Important for binding to annexin A2.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.137C>T	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133043	0.37630	0.0	1.16E-4	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000519510;ENST00000429710;ENST00000524009;ENST00000520523;ENST00000521694	T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.35	4.47	0.54385	Fibronectin, type I (4);Complement control module (1);	0.119220	0.56097	D	0.000027	T	0.72145	0.3424	M	0.80616	2.505	0.27420	N	0.954306	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.994	T	0.67979	-0.5530	10	0.72032	D	0.01	.	12.2973	0.54854	0.0789:0.0:0.9211:0.0	.	46;46;46;46	B4DNJ1;B4DN26;B4DV92;P00750	.;.;.;TPA_HUMAN	M	46	ENSP00000270189:T46M;ENSP00000392045:T46M;ENSP00000220809:T46M;ENSP00000428886:T46M;ENSP00000407861:T46M;ENSP00000429401:T46M;ENSP00000428797:T46M;ENSP00000429801:T46M	ENSP00000220809:T46M	T	-	2	0	PLAT	42165725	0.998000	0.40836	0.016000	0.15963	0.097000	0.18754	4.002000	0.57053	1.256000	0.44068	0.650000	0.86243	ACG		0.493	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		7	130	0	0	0	1	0	7	130				
RFFL	117584	broad.mit.edu	37	17	33344575	33344575	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:33344575G>A	ENST00000315249.7	-	4	864	c.642C>T	c.(640-642)agC>agT	p.S214S	RFFL_ENST00000394597.2_Silent_p.S214S|RFFL_ENST00000268850.7_Intron|RFFL_ENST00000413582.2_Silent_p.S214S|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000378516.2_Silent_p.S214S|RFFL_ENST00000415395.2_Silent_p.S214S|RFFL_ENST00000584655.1_Intron|RFFL_ENST00000447669.2_Silent_p.S214S					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTCTGGCCACGCTCTCCAGGT	0.527																																						ENST00000315249.7																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(640-642)agC>agT		ring finger and FYVE-like domain containing E3 ubiquitin protein ligase							69.0	59.0	62.0					17																	33344575		2203	4300	6503	SO:0001819	synonymous_variant	117584				apoptosis	membrane	ligase activity|zinc ion binding	g.chr17:33344575G>A	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.642C>T	17.37:g.33344575G>A						RFFL_ENST00000584655.1_Intron|RFFL_ENST00000415395.2_Silent_p.S214S|RFFL_ENST00000413582.2_Silent_p.S214S|RFFL_ENST00000378516.2_Silent_p.S214S|RFFL_ENST00000394597.2_Silent_p.S214S|RFFL_ENST00000268850.7_Intron|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000447669.2_Silent_p.S214S	p.S214S			Q8WZ73	RFFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	4	864	-		Ovarian(249;0.17)	214						Silent	SNP	ENST00000315249.7	37	c.642C>T	CCDS11286.1																																																																																				0.527	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		4	7	0	0	0	1	0	4	7				
PRPS1L1	221823	broad.mit.edu	37	7	18066568	18066568	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:18066568T>C	ENST00000506618.2	-	1	918	c.838A>G	c.(838-840)Aag>Gag	p.K280E		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	280					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TGCTTCATCTTCTCATCTTGA	0.428																																						ENST00000506618.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(838-840)Aag>Gag		phosphoribosyl pyrophosphate synthetase 1-like 1							191.0	190.0	191.0					7																	18066568		2201	4300	6501	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18066568T>C	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.838A>G	7.37:g.18066568T>C	ENSP00000424595:p.Lys280Glu						p.K280E	NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN			1	918	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		280					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.838A>G	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.960494	0.34565	.	.	ENSG00000229937	ENST00000506618	D	0.91011	-2.77	4.44	3.28	0.37604	.	.	.	.	.	T	0.80534	0.4641	N	0.20845	0.615	.	.	.	B	0.20671	0.047	B	0.21917	0.037	T	0.73007	-0.4118	8	0.10636	T	0.68	.	8.2583	0.31769	0.0:0.0964:0.0:0.9036	.	280	P21108	PRPS3_HUMAN	E	280	ENSP00000424595:K280E	ENSP00000424595:K280E	K	-	1	0	PRPS1L1	18033093	1.000000	0.71417	0.980000	0.43619	0.798000	0.45092	5.558000	0.67319	0.857000	0.35407	0.528000	0.53228	AAG		0.428	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		46	79	0	0	0	1	0	46	79				
BNIP1	662	broad.mit.edu	37	5	172590779	172590779	+	Missense_Mutation	SNP	C	C	T	rs571755895		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:172590779C>T	ENST00000351486.5	+	6	573	c.542C>T	c.(541-543)tCg>tTg	p.S181L	BNIP1_ENST00000352523.6_Missense_Mutation_p.S190L|BNIP1_ENST00000393770.4_Missense_Mutation_p.S147L|BNIP1_ENST00000231668.9_Missense_Mutation_p.S224L	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	181					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAGTCCATGTCGGGCACCATC	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		18258	0.0		0.0	False		,,,				2504	0.001					ENST00000231668.9																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.(670-672)tCg>tTg		BCL2/adenovirus E1B 19kDa interacting protein 1							85.0	82.0	83.0					5																	172590779		2203	4300	6503	SO:0001583	missense	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172590779C>T	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.542C>T	5.37:g.172590779C>T	ENSP00000239215:p.Ser181Leu					BNIP1_ENST00000351486.5_Missense_Mutation_p.S181L|BNIP1_ENST00000393770.4_Missense_Mutation_p.S147L|BNIP1_ENST00000352523.6_Missense_Mutation_p.S190L	p.S224L	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		7	775	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	181					D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Missense_Mutation	SNP	ENST00000351486.5	37	c.671C>T	CCDS4384.1	.	.	.	.	.	.	.	.	.	.	C	35	5.516373	0.96402	.	.	ENSG00000113734	ENST00000231668;ENST00000351486;ENST00000352523;ENST00000393770	T;T;T;T	0.48201	0.82;0.84;0.82;0.84	5.73	5.73	0.89815	.	0.062472	0.64402	D	0.000003	T	0.58566	0.2131	M	0.62723	1.935	0.80722	D	1	P;D;D;D	0.60575	0.92;0.978;0.988;0.978	B;P;P;P	0.50590	0.321;0.526;0.645;0.562	T	0.57142	-0.7862	10	0.42905	T	0.14	.	19.9084	0.97016	0.0:1.0:0.0:0.0	.	147;190;181;224	Q12981-2;Q12981-3;Q12981;Q12981-1	.;.;SEC20_HUMAN;.	L	224;181;190;147	ENSP00000231668:S224L;ENSP00000239215:S181L;ENSP00000239214:S190L;ENSP00000377365:S147L	ENSP00000231668:S224L	S	+	2	0	BNIP1	172523385	1.000000	0.71417	0.969000	0.41365	0.780000	0.44128	7.487000	0.81328	2.711000	0.92665	0.650000	0.86243	TCG		0.498	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		5	57	0	0	0	1	0	5	57				
LRRN3	54674	broad.mit.edu	37	7	110763518	110763518	+	Silent	SNP	C	C	T	rs146797927	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:110763518C>T	ENST00000422987.3	+	2	1521	c.690C>T	c.(688-690)aaC>aaT	p.N230N	IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000451085.1_Silent_p.N230N|LRRN3_ENST00000308478.5_Silent_p.N230N|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	230					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N230N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TACCAGATAACGCCTTGGTTG	0.358													T|||	2	0.000399361	0.0	0.0	5008	,	,		18436	0.0		0.0	False		,,,				2504	0.002					ENST00000451085.1																			1	Substitution - coding silent(1)	p.N230N(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(688-690)aaC>aaT		leucine rich repeat neuronal 3		T	,,,	0,4406		0,0,2203	68.0	70.0	69.0		690,690,690,	0.8	1.0	7	dbSNP_134	69	2,8596	816.0+/-406.9	0,2,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,intron	LRRN3,IMMP2L	NM_001099658.1,NM_001099660.1,NM_018334.4,NM_032549.3	,,,	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	,,,	230/709,230/709,230/709,	110763518	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	54674					integral to membrane		g.chr7:110763518C>T	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.690C>T	7.37:g.110763518C>T						IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000422987.3_Silent_p.N230N|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000308478.5_Silent_p.N230N|IMMP2L_ENST00000450877.1_Intron	p.N230N	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1736	+			230					O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	37	c.690C>T	CCDS5754.1																																																																																				0.358	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		7	66	0	0	0	1	0	7	66				
PTGIR	5739	broad.mit.edu	37	19	47127100	47127100	+	Missense_Mutation	SNP	G	G	A	rs201125347		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:47127100G>A	ENST00000291294.2	-	2	516	c.383C>T	c.(382-384)gCg>gTg	p.A128V	PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.A128V|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000594275.1_Intron	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	128					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	GTCCAGCTGCGCGTAGAGGTA	0.692																																						ENST00000291294.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13						c.(382-384)gCg>gTg		prostaglandin I2 (prostacyclin) receptor (IP)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	G	VAL/ALA	0,4252		0,0,2126	11.0	11.0	11.0		383	4.8	1.0	19		11	1,8333		0,1,4166	no	missense	PTGIR	NM_000960.3	64	0,1,6292	AA,AG,GG		0.012,0.0,0.0079	benign	128/387	47127100	1,12585	2126	4167	6293	SO:0001583	missense	0				cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity	g.chr19:47127100G>A		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"""GPCR / Class A : Prostanoid receptors"""	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.383C>T	19.37:g.47127100G>A	ENSP00000291294:p.Ala128Val					PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.A128V	p.A128V	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	2	516	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	128						Missense_Mutation	SNP	ENST00000291294.2	37	c.383C>T	CCDS12686.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466029	0.43839	0.0	1.2E-4	ENSG00000160013	ENST00000291294	T	0.72282	-0.64	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.066528	0.64402	D	0.000012	T	0.69070	0.3070	M	0.65975	2.015	0.35840	D	0.825957	B	0.25772	0.134	B	0.26202	0.067	T	0.72337	-0.4324	10	0.33141	T	0.24	-7.9405	15.5026	0.75713	0.0:0.0:1.0:0.0	.	128	P43119	PI2R_HUMAN	V	128	ENSP00000291294:A128V	ENSP00000291294:A128V	A	-	2	0	PTGIR	51818940	0.995000	0.38212	0.998000	0.56505	0.608000	0.37181	2.596000	0.46205	2.511000	0.84671	0.563000	0.77884	GCG		0.692	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1			9	10	0	0	0	1	0	9	10				
NDST2	8509	broad.mit.edu	37	10	75563390	75563390	+	Missense_Mutation	SNP	C	C	T	rs373342432		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:75563390C>T	ENST00000309979.6	-	11	2640	c.2084G>A	c.(2083-2085)cGa>cAa	p.R695Q	RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.R695Q|NDST2_ENST00000299641.4_Missense_Mutation_p.R572Q|ZSWIM8-AS1_ENST00000456638.2_RNA			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	695	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GATCTTGGCTCGTGGCAGGAG	0.557																																						ENST00000299641.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(1714-1716)cGa>cAa		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2							116.0	126.0	123.0					10																	75563390		2203	4300	6503	SO:0001583	missense	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75563390C>T	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.2084G>A	10.37:g.75563390C>T	ENSP00000310657:p.Arg695Gln					NDST2_ENST00000309979.6_Missense_Mutation_p.R695Q	p.R572Q	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN			12	2685	-	Prostate(51;0.0112)		695			Heparan sulfate N-deacetylase 2.		Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	c.1715G>A	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558634	0.86231	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.53640	0.61;0.61	5.95	5.95	0.96441	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.50051	0.1593	L	0.41710	1.295	0.58432	D	0.999994	B;P;P;P	0.51147	0.282;0.483;0.942;0.896	B;B;P;P	0.46659	0.067;0.125;0.523;0.506	T	0.47812	-0.9088	10	0.54805	T	0.06	.	20.3854	0.98941	0.0:1.0:0.0:0.0	.	572;365;218;695	B4E139;B4DQU1;B4DE98;P52849	.;.;.;NDST2_HUMAN	Q	695;572	ENSP00000310657:R695Q;ENSP00000299641:R572Q	ENSP00000299641:R572Q	R	-	2	0	NDST2	75233396	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.780000	0.55386	2.825000	0.97269	0.655000	0.94253	CGA		0.557	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		16	97	0	0	0	1	0	16	97				
TIPARP	25976	broad.mit.edu	37	3	156411927	156411927	+	Missense_Mutation	SNP	G	G	A	rs200119519		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:156411927G>A	ENST00000461166.1	+	3	1624	c.1036G>A	c.(1036-1038)Gtc>Atc	p.V346I	TIPARP_ENST00000542783.1_Missense_Mutation_p.V346I|TIPARP_ENST00000486483.1_Missense_Mutation_p.V346I|TIPARP_ENST00000295924.7_Missense_Mutation_p.V346I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	346	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTACCACACAGTCTGGAAATT	0.383																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1036-1038)Gtc>Atc		TCDD-inducible poly(ADP-ribose) polymerase							155.0	153.0	153.0					3																	156411927		2203	4300	6503	SO:0001583	missense	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156411927G>A	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1036G>A	3.37:g.156411927G>A	ENSP00000420612:p.Val346Ile					TIPARP_ENST00000542783.1_Missense_Mutation_p.V346I|TIPARP_ENST00000486483.1_Missense_Mutation_p.V346I|TIPARP_ENST00000295924.7_Missense_Mutation_p.V346I	p.V346I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		3	1624	+			346			WWE.		D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	c.1036G>A	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.19|13.19	2.162881|2.162881	0.38217|0.38217	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000495891|ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	.|T;T;T;T;T;T	.|0.33654	.|1.4;1.4;1.4;1.4;1.4;1.4	5.14|5.14	3.15|3.15	0.36227|0.36227	.|WWE domain (1);	.|0.197939	.|0.42682	.|D	.|0.000675	T|T	0.28566|0.28566	0.0707|0.0707	L|L	0.51422|0.51422	1.61|1.61	0.36072|0.36072	D|D	0.842206|0.842206	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.16748|0.16748	-1.0392|-1.0392	5|10	.|0.35671	.|T	.|0.21	.|.	6.5637|6.5637	0.22501|0.22501	0.1538:0.0:0.6637:0.1825|0.1538:0.0:0.6637:0.1825	.|.	.|346	.|Q7Z3E1	.|PARPT_HUMAN	N|I	48|346	.|ENSP00000418757:V346I;ENSP00000295924:V346I;ENSP00000420612:V346I;ENSP00000419982:V346I;ENSP00000418829:V346I;ENSP00000438345:V346I	.|ENSP00000295924:V346I	S|V	+|+	2|1	0|0	TIPARP|TIPARP	157894621|157894621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	2.982000|2.982000	0.49337|0.49337	0.513000|0.513000	0.28278|0.28278	-0.136000|-0.136000	0.14681|0.14681	AGT|GTC		0.383	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		24	46	0	0	0	1	0	24	46				
TAS1R1	80835	broad.mit.edu	37	1	6634741	6634741	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:6634741C>A	ENST00000333172.6	+	3	742	c.549C>A	c.(547-549)ccC>ccA	p.P183P	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Silent_p.P183P	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	183					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GGCAGTATCCCTCTTTCCTGC	0.587																																						ENST00000333172.6																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(547-549)ccC>ccA		taste receptor, type 1, member 1							94.0	89.0	91.0					1																	6634741		2203	4300	6503	SO:0001819	synonymous_variant	0				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6634741C>A		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.549C>A	1.37:g.6634741C>A						TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Silent_p.P183P	p.P183P	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	3	742	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	183					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Silent	SNP	ENST00000333172.6	37	c.549C>A	CCDS81.1	.	.	.	.	.	.	.	.	.	.	C	9.477	1.097257	0.20552	.	.	ENSG00000173662	ENST00000411823	D	0.90004	-2.6	5.12	-2.71	0.05986	.	0.000000	0.85682	D	0.000000	D	0.87924	0.6300	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.82448	-0.0452	7	0.87932	D	0	.	5.2121	0.15322	0.1116:0.2444:0.5006:0.1434	.	.	.	.	H	109	ENSP00000414166:P109H	ENSP00000414166:P109H	P	+	2	0	TAS1R1	6557328	0.001000	0.12720	0.616000	0.29078	0.957000	0.61999	-1.665000	0.01965	-0.459000	0.07013	0.561000	0.74099	CCT		0.587	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			23	34	1	0	1.22574e-08	1	1.29225e-08	23	34				
EP400	57634	broad.mit.edu	37	12	132502815	132502815	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:132502815G>A	ENST00000333577.4	+	22	4388	c.4279G>A	c.(4279-4281)Gca>Aca	p.A1427T	EP400_ENST00000330386.6_Missense_Mutation_p.A1391T|EP400_ENST00000389562.2_Missense_Mutation_p.A1390T|EP400_ENST00000332482.4_Missense_Mutation_p.A1354T|EP400_ENST00000389561.2_Missense_Mutation_p.A1391T			Q96L91	EP400_HUMAN	E1A binding protein p400	1427					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCGTCACGAGGCAGAGTTGCT	0.463																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(4279-4281)Gca>Aca		E1A binding protein p400							55.0	58.0	57.0					12																	132502815		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132502815G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4279G>A	12.37:g.132502815G>A	ENSP00000333602:p.Ala1427Thr					EP400_ENST00000330386.6_Missense_Mutation_p.A1391T|EP400_ENST00000389561.2_Missense_Mutation_p.A1391T|EP400_ENST00000332482.4_Missense_Mutation_p.A1354T|EP400_ENST00000389562.2_Missense_Mutation_p.A1390T	p.A1427T			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	22	4388	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1427					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.4279G>A		.	.	.	.	.	.	.	.	.	.	G	14.33	2.503603	0.44558	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.91894	-2.91;-2.91;-2.92;-2.93;-2.79	5.43	4.54	0.55810	.	0.104086	0.64402	D	0.000003	D	0.88829	0.6543	L	0.54323	1.7	0.34882	D	0.744651	B;B;B	0.31435	0.323;0.323;0.323	B;B;B	0.30495	0.116;0.116;0.116	D	0.90154	0.4223	10	0.54805	T	0.06	.	10.0757	0.42360	0.0713:0.0:0.7905:0.1382	.	1391;1391;1390	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	T	1427;1391;1390;1354;1391;1391;1391	ENSP00000333602:A1427T;ENSP00000374212:A1391T;ENSP00000374213:A1390T;ENSP00000331737:A1354T;ENSP00000330620:A1391T	ENSP00000330620:A1391T	A	+	1	0	EP400	131068768	1.000000	0.71417	0.987000	0.45799	0.984000	0.73092	2.717000	0.47227	1.280000	0.44463	0.655000	0.94253	GCA		0.463	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	42	0	0	0	1	0	6	42				
FAM135B	51059	broad.mit.edu	37	8	139164500	139164500	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:139164500G>A	ENST00000395297.1	-	13	2388	c.2218C>T	c.(2218-2220)Cca>Tca	p.P740S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	740										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATGCCGCTTGGCAAACTTGTG	0.522										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2218-2220)Cca>Tca		family with sequence similarity 135, member B							40.0	42.0	41.0					8																	139164500		2099	4240	6339	SO:0001583	missense	51059							g.chr8:139164500G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2218C>T	8.37:g.139164500G>A	ENSP00000378710:p.Pro740Ser	HNSCC(54;0.14)					p.P740S	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2388	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		740					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2218C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938244	0.73557	.	.	ENSG00000147724	ENST00000395297	T	0.17054	2.3	5.65	5.65	0.86999	.	0.134887	0.49305	D	0.000150	T	0.44850	0.1313	M	0.74258	2.255	0.52501	D	0.99995	D;D;D	0.89917	1.0;0.999;0.991	D;D;P	0.97110	1.0;0.981;0.813	T	0.21655	-1.0239	10	0.48119	T	0.1	-9.2901	18.7244	0.91708	0.0:0.0:1.0:0.0	.	740;740;740	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	S	740	ENSP00000378710:P740S	ENSP00000276737:P740S	P	-	1	0	FAM135B	139233682	1.000000	0.71417	0.971000	0.41717	0.608000	0.37181	7.450000	0.80656	2.678000	0.91216	0.655000	0.94253	CCA		0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		11	31	0	0	0	1	0	11	31				
MTIF3	219402	broad.mit.edu	37	13	28014243	28014243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr13:28014243G>A	ENST00000381116.1	-	5	577	c.343C>T	c.(343-345)Cga>Tga	p.R115*	MTIF3_ENST00000405591.2_Nonsense_Mutation_p.R115*|MTIF3_ENST00000431572.2_Nonsense_Mutation_p.R115*|MTIF3_ENST00000381120.3_Nonsense_Mutation_p.R115*|MTIF3_ENST00000461838.1_5'UTR			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	115					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		TGAACCAGTCGCAGGTCTCGC	0.478																																						ENST00000381116.1																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(343-345)Cga>Tga		mitochondrial translational initiation factor 3							148.0	127.0	134.0					13																	28014243		2203	4300	6503	SO:0001587	stop_gained	219402				regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity	g.chr13:28014243G>A	BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633	ENST00000381116.1:c.343C>T	13.37:g.28014243G>A	ENSP00000370508:p.Arg115*					MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000405591.2_Nonsense_Mutation_p.R115*|MTIF3_ENST00000381120.3_Nonsense_Mutation_p.R115*|MTIF3_ENST00000431572.2_Nonsense_Mutation_p.R115*	p.R115*			Q9H2K0	IF3M_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)	5	577	-		Lung SC(185;0.0161)	115					Q05BL8|Q5W0V0|Q86X68	Nonsense_Mutation	SNP	ENST00000381116.1	37	c.343C>T	CCDS9322.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231196	0.58777	.	.	ENSG00000122033	ENST00000431572;ENST00000405591;ENST00000381116;ENST00000381120	.	.	.	5.82	-3.46	0.04767	.	0.221060	0.46758	D	0.000269	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-12.6473	19.808	0.96537	0.0:0.0:0.705:0.295	.	.	.	.	X	115	.	ENSP00000370508:R115X	R	-	1	2	MTIF3	26912243	0.998000	0.40836	0.014000	0.15608	0.005000	0.04900	1.629000	0.37071	-0.840000	0.04206	-0.274000	0.10170	CGA		0.478	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1	NM_152912		6	76	0	0	0	1	0	6	76				
NAALADL2	254827	broad.mit.edu	37	3	175520891	175520891	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:175520891A>G	ENST00000454872.1	+	14	2416	c.2288A>G	c.(2287-2289)cAa>cGa	p.Q763R		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	763						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GAGACCCTTCAAGAAGCCCTG	0.433																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(2287-2289)cAa>cGa		N-acetylated alpha-linked acidic dipeptidase-like 2							93.0	86.0	88.0					3																	175520891		1836	4094	5930	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175520891A>G		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.2288A>G	3.37:g.175520891A>G	ENSP00000404705:p.Gln763Arg						p.Q763R	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	14	2416	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	763					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.2288A>G	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.653577	0.29425	.	.	ENSG00000177694	ENST00000454872	T	0.32272	1.46	5.67	4.52	0.55395	Transferrin receptor-like, dimerisation domain (2);	0.302494	0.28718	N	0.014379	T	0.19248	0.0462	L	0.27053	0.805	0.25197	N	0.990088	B	0.14012	0.009	B	0.12837	0.008	T	0.16335	-1.0406	10	0.30854	T	0.27	-15.3506	6.6592	0.23004	0.7919:0.0:0.072:0.1361	.	763	Q58DX5	NADL2_HUMAN	R	763	ENSP00000404705:Q763R	ENSP00000404705:Q763R	Q	+	2	0	NAALADL2	177003585	1.000000	0.71417	0.987000	0.45799	0.219000	0.24729	3.487000	0.53222	0.973000	0.38340	0.467000	0.42956	CAA		0.433	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		5	36	0	0	0	1	0	5	36				
TMEM57	55219	broad.mit.edu	37	1	25815687	25815687	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:25815687G>A	ENST00000374343.4	+	9	1699	c.1520G>A	c.(1519-1521)cGg>cAg	p.R507Q	TMEM57_ENST00000399766.3_Missense_Mutation_p.R280Q|TMEM57_ENST00000399763.3_Missense_Mutation_p.R149Q	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	507					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		GAAACCTTACGGAATCGGATC	0.448																																						ENST00000374343.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1519-1521)cGg>cAg		transmembrane protein 57							89.0	88.0	89.0					1																	25815687		2203	4300	6503	SO:0001583	missense	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25815687G>A	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1520G>A	1.37:g.25815687G>A	ENSP00000363463:p.Arg507Gln					TMEM57_ENST00000399766.3_Missense_Mutation_p.R280Q|TMEM57_ENST00000399763.3_Missense_Mutation_p.R149Q	p.R507Q	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	9	1699	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	507					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	c.1520G>A	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243008	0.79912	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	T;T	0.76316	-1.01;2.53	6.04	6.04	0.98038	.	0.058519	0.64402	D	0.000002	T	0.80470	0.4629	M	0.68593	2.085	0.53688	D	0.999978	P;D;P	0.63880	0.907;0.993;0.574	B;P;B	0.49683	0.187;0.619;0.252	T	0.81055	-0.1106	10	0.51188	T	0.08	-11.7893	12.8192	0.57683	0.0737:0.0:0.9263:0.0	.	149;280;507	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	Q	280;149;507	ENSP00000382668:R280Q;ENSP00000363463:R507Q	ENSP00000363463:R507Q	R	+	2	0	TMEM57	25688274	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.271000	0.72569	2.873000	0.98535	0.561000	0.74099	CGG		0.448	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		6	23	0	0	0	1	0	6	23				
DNAH7	56171	broad.mit.edu	37	2	196729067	196729067	+	Missense_Mutation	SNP	G	G	A	rs537891498		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:196729067G>A	ENST00000312428.6	-	41	7412	c.7312C>T	c.(7312-7314)Cgt>Tgt	p.R2438C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2438	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.R2438C(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTAACTGACGCATCTTATCA	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		19822	0.001		0.0	False		,,,				2504	0.0					ENST00000312428.6																			1	Substitution - Missense(1)	p.R2438C(1)	endometrium(1)	NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(7312-7314)Cgt>Tgt		dynein, axonemal, heavy chain 7							151.0	146.0	148.0					2																	196729067		1960	4161	6121	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196729067G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7312C>T	2.37:g.196729067G>A	ENSP00000311273:p.Arg2438Cys						p.R2438C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			41	7412	-			2438			AAA 4 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.7312C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534714	0.85812	.	.	ENSG00000118997	ENST00000312428	T	0.57595	0.39	5.34	5.34	0.76211	Dynein heavy chain, P-loop containing D4 domain (1);	0.056667	0.64402	D	0.000001	T	0.81503	0.4836	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.86502	0.1804	10	0.72032	D	0.01	.	18.8307	0.92137	0.0:0.0:1.0:0.0	.	2438	Q8WXX0	DYH7_HUMAN	C	2438	ENSP00000311273:R2438C	ENSP00000311273:R2438C	R	-	1	0	DNAH7	196437312	1.000000	0.71417	0.999000	0.59377	0.872000	0.50106	9.336000	0.96533	2.785000	0.95823	0.650000	0.86243	CGT		0.433	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		5	75	0	0	0	1	0	5	75				
SAG	6295	broad.mit.edu	37	2	234237188	234237188	+	Nonsense_Mutation	SNP	C	C	T	rs201153410		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:234237188C>T	ENST00000409110.1	+	8	807	c.577C>T	c.(577-579)Cga>Tga	p.R193*	SAG_ENST00000449594.2_Nonsense_Mutation_p.R59*	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	193					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TCCCCAGCCCCGAGCTGAGGC	0.582																																						ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9	GRCh37	CM981785	SAG	M		c.(577-579)Cga>Tga		S-antigen; retina and pineal gland (arrestin)		C	stop/ARG	0,4000		0,0,2000	120.0	115.0	117.0		577	1.6	0.1	2		117	3,8339		0,3,4168	yes	stop-gained	SAG	NM_000541.4		0,3,6168	TT,TC,CC		0.036,0.0,0.0243		193/406	234237188	3,12339	2000	4171	6171	SO:0001587	stop_gained	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234237188C>T		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.577C>T	2.37:g.234237188C>T	ENSP00000386444:p.Arg193*					SAG_ENST00000449594.2_Nonsense_Mutation_p.R59*	p.R193*	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	8	807	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)	193					A0FDN6|Q53SV3|Q99858	Nonsense_Mutation	SNP	ENST00000409110.1	37	c.577C>T	CCDS46545.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745375	0.49151	0.0	3.6E-4	ENSG00000130561	ENST00000252857;ENST00000409110;ENST00000449594	.	.	.	4.19	1.6	0.23607	.	1.939470	0.02219	N	0.063843	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	2.9227	3.3721	0.07224	0.3069:0.4166:0.0:0.2765	.	.	.	.	X	193;193;59	.	ENSP00000252857:R193X	R	+	1	2	SAG	233901927	0.000000	0.05858	0.148000	0.22405	0.047000	0.14425	-0.132000	0.10467	0.187000	0.20147	0.655000	0.94253	CGA		0.582	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		15	45	0	0	0	1	0	15	45				
GALK2	2585	broad.mit.edu	37	15	49574217	49574217	+	Missense_Mutation	SNP	C	C	T	rs201505722	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:49574217C>T	ENST00000560031.1	+	6	845	c.538C>T	c.(538-540)Cgt>Tgt	p.R180C	GALK2_ENST00000327171.3_Missense_Mutation_p.R169C|GALK2_ENST00000544523.1_Missense_Mutation_p.R156C|GALK2_ENST00000559454.1_Missense_Mutation_p.R156C|GALK2_ENST00000396509.2_Missense_Mutation_p.R156C|GALK2_ENST00000543495.1_Missense_Mutation_p.R51C|GALK2_ENST00000561014.1_3'UTR			Q01415	GALK2_HUMAN	galactokinase 2	180					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		CAAGAGTGAGCGTTACATTGG	0.413													C|||	4	0.000798722	0.0	0.0	5008	,	,		20633	0.004		0.0	False		,,,				2504	0.0					ENST00000327171.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(505-507)Cgt>Tgt		galactokinase 2							130.0	121.0	124.0					15																	49574217		2196	4295	6491	SO:0001583	missense	2585				galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity	g.chr15:49574217C>T		CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.538C>T	15.37:g.49574217C>T	ENSP00000453129:p.Arg180Cys					GALK2_ENST00000560031.1_Missense_Mutation_p.R180C|GALK2_ENST00000396509.2_Missense_Mutation_p.R156C|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000544523.1_Missense_Mutation_p.R156C|GALK2_ENST00000543495.1_Missense_Mutation_p.R51C|GALK2_ENST00000559454.1_Missense_Mutation_p.R156C	p.R169C	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)	6	737	+		all_lung(180;0.000325)	180					Q7Z4Q4	Missense_Mutation	SNP	ENST00000560031.1	37	c.505C>T	CCDS42034.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	34	5.350054	0.95830	.	.	ENSG00000156958	ENST00000327171;ENST00000396509;ENST00000543495;ENST00000544523	D;D;D	0.85088	-1.94;-1.94;-1.94	5.79	5.79	0.91817	Ribosomal protein S5 domain 2-type fold (1);GHMP kinase (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.95017	0.8387	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.95691	0.8740	10	0.87932	D	0	0.2286	20.0222	0.97508	0.0:1.0:0.0:0.0	.	180;169	Q01415;Q7Z4Q4	GALK2_HUMAN;.	C	169;180;51;156	ENSP00000316632:R169C;ENSP00000443220:R51C;ENSP00000440312:R156C	ENSP00000316632:R169C	R	+	1	0	GALK2	47361509	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.644000	0.67902	2.726000	0.93360	0.655000	0.94253	CGT		0.413	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417854.1			18	45	0	0	0	1	0	18	45				
DNMT3A	1788	broad.mit.edu	37	2	25463271	25463271	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:25463271G>A	ENST00000264709.3	-	19	2559	c.2222C>T	c.(2221-2223)gCg>gTg	p.A741V	DNMT3A_ENST00000402667.1_Missense_Mutation_p.A518V|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A552V|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A741V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	741	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.A741V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGGGCCGCGCATCATGCAG	0.572			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		1	Substitution - Missense(1)	p.A741V(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(2221-2223)gCg>gTg		DNA (cytosine-5-)-methyltransferase 3 alpha							83.0	78.0	79.0					2																	25463271		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25463271G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2222C>T	2.37:g.25463271G>A	ENSP00000264709:p.Ala741Val					DNMT3A_ENST00000402667.1_Missense_Mutation_p.A518V|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A741V|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A552V	p.A741V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			19	2559	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		741					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.2222C>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132405	0.77662	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92	5.38	5.38	0.77491	.	0.047415	0.85682	D	0.000000	D	0.91123	0.7205	N	0.15975	0.35	0.80722	D	1	P;D	0.69078	0.956;0.997	B;B	0.43889	0.256;0.435	D	0.91733	0.5398	10	0.41790	T	0.15	-11.9058	17.6755	0.88229	0.0:0.0:1.0:0.0	.	741;552	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	V	552;741;741;518	ENSP00000370122:A552V;ENSP00000324375:A741V;ENSP00000264709:A741V;ENSP00000384237:A518V	ENSP00000264709:A741V	A	-	2	0	DNMT3A	25316775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.540000	0.85666	0.561000	0.74099	GCG		0.572	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		25	45	0	0	0	1	0	25	45				
IRAK2	3656	broad.mit.edu	37	3	10219597	10219597	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:10219597C>T	ENST00000256458.4	+	2	260	c.170C>T	c.(169-171)aCg>aTg	p.T57M		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	57	Death.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GTGAGCATCACGCGGGAGCTG	0.637																																						ENST00000256458.4																			0				breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(169-171)aCg>aTg		interleukin-1 receptor-associated kinase 2							70.0	64.0	66.0					3																	10219597		2203	4300	6503	SO:0001583	missense	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|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	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10219597C>T	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.170C>T	3.37:g.10219597C>T	ENSP00000256458:p.Thr57Met						p.T57M	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN			2	260	+			57			Death.		B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	c.170C>T	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518835	0.64634	.	.	ENSG00000134070	ENST00000256458	T	0.70399	-0.48	4.82	4.82	0.62117	Death (1);DEATH-like (2);	0.000000	0.49916	D	0.000129	D	0.82802	0.5116	M	0.74881	2.28	0.50313	D	0.999869	D	0.89917	1.0	D	0.97110	1.0	D	0.85038	0.0921	10	0.87932	D	0	-23.6131	13.4018	0.60887	0.0:1.0:0.0:0.0	.	57	O43187	IRAK2_HUMAN	M	57	ENSP00000256458:T57M	ENSP00000256458:T57M	T	+	2	0	IRAK2	10194597	0.998000	0.40836	0.927000	0.36925	0.718000	0.41266	4.810000	0.62598	2.226000	0.72624	0.491000	0.48974	ACG		0.637	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			16	33	0	0	0	1	0	16	33				
PCDHA5	56143	broad.mit.edu	37	5	140203213	140203213	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:140203213G>A	ENST00000529859.1	+	1	1853	c.1853G>A	c.(1852-1854)cGc>cAc	p.R618H	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R618H|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R618H|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R618H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGTGCGCGCATCCCGTTC	0.652																																						ENST00000529859.1																			2	Substitution - Missense(2)	p.R618H(2)	large_intestine(2)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1852-1854)cGc>cAc									74.0	77.0	76.0					5																	140203213		2203	4300	6503	SO:0001583	missense	0							g.chr5:140203213G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1853G>A	5.37:g.140203213G>A	ENSP00000436557:p.Arg618His					PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R618H|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R618H	p.R618H	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1853	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1853G>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	g	0.473	-0.883725	0.02530	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.52526	0.66;0.66;0.66	3.87	2.06	0.26882	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35508	0.0934	L	0.44542	1.39	0.23421	N	0.997713	B;B;B	0.29301	0.241;0.171;0.171	B;B;B	0.27715	0.082;0.03;0.046	T	0.22941	-1.0202	9	0.41790	T	0.15	.	5.4247	0.16419	0.1933:0.1635:0.6433:0.0	.	618;618;618	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	H	618	ENSP00000433416:R618H;ENSP00000436557:R618H;ENSP00000367366:R618H	ENSP00000367366:R618H	R	+	2	0	PCDHA5	140183397	0.000000	0.05858	0.173000	0.22940	0.289000	0.27227	-0.561000	0.05957	0.264000	0.21851	-0.699000	0.03677	CGC		0.652	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		15	64	0	0	0	1	0	15	64				
IL12A	3592	broad.mit.edu	37	3	159711354	159711354	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:159711354G>A	ENST00000305579.2	+	5	727		c.e5-1		IL12A_ENST00000466512.1_Splice_Site|IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Splice_Site	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A						cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cell adhesion (GO:0045785)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|response to lipopolysaccharide (GO:0032496)|response to UV-B (GO:0010224)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)	interleukin-12 beta subunit binding (GO:0042163)|interleukin-12 receptor binding (GO:0005143)|interleukin-27 binding (GO:0045513)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTTCCTCTAGAATGGGAGTT	0.388																																						ENST00000305579.2																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9						c.e5-1		interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)							121.0	118.0	119.0					3																	159711354		2203	4300	6503	SO:0001630	splice_region_variant	3592				cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity	g.chr3:159711354G>A	M65271	CCDS3187.1	3q25.33	2014-04-04	2014-04-04		ENSG00000168811	ENSG00000168811		"""Interleukins and interleukin receptors"""	5969	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor 1, 35 kD subunit"", ""cytotoxic lymphocyte maturation factor 1, p35"", ""interleukin 12, p35"", ""IL-12, subunit p35"", ""NF cell stimulatory factor chain 1"", ""interleukin-12 alpha chain"", ""IL35 subunit"""	161560	"""interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)"""	NKSF1		1673147	Standard	NM_000882		Approved	CLMF, IL-12A, p35, NFSK	uc003fcx.3	P29459	OTTHUMG00000158942	ENST00000305579.2:c.421-1G>A	3.37:g.159711354G>A						IL12A_ENST00000466512.1_Splice_Site|CTD-2049J23.2_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Splice_Site		NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		5	727	+								Q96QZ1	Splice_Site	SNP	ENST00000305579.2	37		CCDS3187.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743701	0.30865	.	.	ENSG00000168811	ENST00000305579;ENST00000480787;ENST00000466512	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2128	0.65776	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL12A	161194048	1.000000	0.71417	0.736000	0.30914	0.272000	0.26649	3.614000	0.54160	2.430000	0.82344	0.650000	0.86243	.		0.388	IL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352602.2	NM_000882	Intron	8	84	0	0	0	1	0	8	84				
SPIDR	23514	broad.mit.edu	37	8	48625401	48625401	+	Missense_Mutation	SNP	A	A	C	rs566690509		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:48625401A>C	ENST00000297423.4	+	15	2539	c.2155A>C	c.(2155-2157)Agc>Cgc	p.S719R	SPIDR_ENST00000518074.1_Missense_Mutation_p.S659R|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.S649R|SPIDR_ENST00000517693.1_Missense_Mutation_p.S194R	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	719					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											TGCCCCTCACAGCCTCTTCTT	0.607													A|||	1	0.000199681	0.0008	0.0	5008	,	,		15432	0.0		0.0	False		,,,				2504	0.0					ENST00000297423.4																			0											c.(2155-2157)Agc>Cgc		scaffolding protein involved in DNA repair							77.0	87.0	84.0					8																	48625401		2139	4233	6372	SO:0001583	missense	23514							g.chr8:48625401A>C	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.2155A>C	8.37:g.48625401A>C	ENSP00000297423:p.Ser719Arg					SPIDR_ENST00000518074.1_Missense_Mutation_p.S659R|SPIDR_ENST00000541342.1_Missense_Mutation_p.S649R|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000517693.1_Missense_Mutation_p.S194R	p.S719R	NM_001080394.2	NP_001073863.1					15	2539	+								B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	c.2155A>C	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	A	10.11	1.260897	0.23051	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362;ENST00000522321;ENST00000518692;ENST00000521056	.	.	.	5.52	0.0227	0.14134	.	0.921050	0.09579	N	0.783139	T	0.18551	0.0445	L	0.34521	1.04	0.09310	N	1	P;P;P;P;P;P;P	0.47302	0.589;0.646;0.893;0.589;0.589;0.589;0.589	B;B;B;B;B;B;B	0.42738	0.145;0.191;0.396;0.188;0.272;0.145;0.188	T	0.12091	-1.0561	9	0.27082	T	0.32	.	0.1568	0.00099	0.2782:0.2528:0.2197:0.2492	.	209;224;659;649;719;194;719	B4DZY2;B4DWT8;B4E0Y6;B4DFV2;B4DEV5;B3KP42;Q14159	.;.;.;.;.;.;K0146_HUMAN	R	719;659;649;224;194;194;80;80;80	.	ENSP00000297423:S719R	S	+	1	0	KIAA0146	48787954	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.101000	0.15251	0.337000	0.23665	-0.408000	0.06270	AGC		0.607	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		17	46	0	0	0	1	0	17	46				
ARID4B	51742	broad.mit.edu	37	1	235416114	235416114	+	Silent	SNP	G	G	A	rs375991062		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:235416114G>A	ENST00000264183.3	-	6	782	c.285C>T	c.(283-285)gaC>gaT	p.D95D	ARID4B_ENST00000366603.2_Silent_p.D95D|ARID4B_ENST00000349213.3_Silent_p.D95D	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	95					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTCATCTCCGTCATCAAAAA	0.378																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(283-285)gaC>gaT		AT rich interactive domain 4B (RBP1-like)		G	,,	1,4405	2.1+/-5.4	0,1,2202	70.0	69.0	70.0		285,285,285	-0.6	1.0	1		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ARID4B	NM_001206794.1,NM_016374.5,NM_031371.3	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	95/1313,95/1313,95/1227	235416114	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235416114G>A	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.285C>T	1.37:g.235416114G>A						ARID4B_ENST00000366603.2_Silent_p.D95D|ARID4B_ENST00000349213.3_Silent_p.D95D	p.D95D	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		6	782	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	95					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	c.285C>T	CCDS31061.1																																																																																				0.378	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		12	32	0	0	0	1	0	12	32				
COPB1	1315	broad.mit.edu	37	11	14491076	14491076	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:14491076T>C	ENST00000249923.3	-	15	2071	c.1771A>G	c.(1771-1773)Act>Gct	p.T591A	COPB1_ENST00000439561.2_Missense_Mutation_p.T591A	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	591					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TGCAGGATAGTAGCCATGAGC	0.398																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(1771-1773)Act>Gct		coatomer protein complex, subunit beta 1							83.0	79.0	80.0					11																	14491076		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14491076T>C	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1771A>G	11.37:g.14491076T>C	ENSP00000249923:p.Thr591Ala					COPB1_ENST00000439561.2_Missense_Mutation_p.T591A	p.T591A	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			15	2071	-			591					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.1771A>G	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	T	18.72	3.684676	0.68157	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.12774	2.65;2.65	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.08447	0.0210	N	0.04508	-0.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23833	-1.0177	10	0.51188	T	0.08	-0.0726	16.3453	0.83126	0.0:0.0:0.0:1.0	.	591	P53618	COPB_HUMAN	A	591	ENSP00000249923:T591A;ENSP00000397873:T591A	ENSP00000249923:T591A	T	-	1	0	COPB1	14447652	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.749000	0.85096	2.261000	0.74972	0.533000	0.62120	ACT		0.398	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		5	52	0	0	0	1	0	5	52				
LAD1	3898	broad.mit.edu	37	1	201358366	201358366	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:201358366C>T	ENST00000391967.2	-	2	405	c.104G>A	c.(103-105)cGc>cAc	p.R35H	LAD1_ENST00000367313.3_Missense_Mutation_p.R49H	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	35	Poly-Arg.					basement membrane (GO:0005604)	structural molecule activity (GO:0005198)	p.R35L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTCAGGTTGCGGTGCCGCCG	0.657																																						ENST00000391967.2																			1	Substitution - Missense(1)	p.R35L(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						c.(103-105)cGc>cAc		ladinin 1							57.0	54.0	55.0					1																	201358366		2203	4300	6503	SO:0001583	missense	3898					basement membrane	structural molecule activity	g.chr1:201358366C>T	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.104G>A	1.37:g.201358366C>T	ENSP00000375829:p.Arg35His					LAD1_ENST00000367313.3_Missense_Mutation_p.R49H	p.R35H	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN			2	405	-			35			Poly-Arg.		O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	37	c.104G>A	CCDS1410.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337466	0.81911	.	.	ENSG00000159166	ENST00000391967;ENST00000367313	T;T	0.28069	1.75;1.63	5.17	4.26	0.50523	.	0.183587	0.39615	N	0.001312	T	0.49201	0.1543	M	0.62723	1.935	0.43814	D	0.996372	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.975	T	0.49698	-0.8912	10	0.87932	D	0	-17.3494	9.5288	0.39180	0.0:0.9021:0.0:0.0979	.	49;35	E9PDI4;O00515	.;LAD1_HUMAN	H	35;49	ENSP00000375829:R35H;ENSP00000356282:R49H	ENSP00000356282:R49H	R	-	2	0	LAD1	199624989	0.988000	0.35896	0.958000	0.39756	0.933000	0.57130	3.996000	0.57009	1.173000	0.42796	0.643000	0.83706	CGC		0.657	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		5	24	0	0	0	1	0	5	24				
EPHX1	2052	broad.mit.edu	37	1	226016443	226016443	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:226016443A>G	ENST00000366837.4	+	2	209	c.13A>G	c.(13-15)Atc>Gtc	p.I5V	EPHX1_ENST00000272167.5_Missense_Mutation_p.I5V	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	5					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GTGGCTAGAAATCCTCCTCAC	0.587																																						ENST00000366837.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(13-15)Atc>Gtc		epoxide hydrolase 1, microsomal (xenobiotic)							47.0	46.0	46.0					1																	226016443		2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226016443A>G	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.13A>G	1.37:g.226016443A>G	ENSP00000355802:p.Ile5Val					EPHX1_ENST00000272167.5_Missense_Mutation_p.I5V	p.I5V	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			2	209	+	Breast(184;0.197)		5					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.13A>G	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	A	0.817	-0.749854	0.03041	.	.	ENSG00000143819	ENST00000445856;ENST00000272167;ENST00000448202;ENST00000366837	T;T;T;T	0.16597	2.6;3.72;2.33;3.72	5.0	1.27	0.21489	.	0.365474	0.28349	N	0.015663	T	0.11281	0.0275	L	0.45698	1.435	0.09310	N	1	B	0.14012	0.009	B	0.15870	0.014	T	0.41466	-0.9507	10	0.07644	T	0.81	-12.814	6.7093	0.23268	0.4231:0.4276:0.1493:0.0	.	5	P07099	HYEP_HUMAN	V	5	ENSP00000398491:I5V;ENSP00000272167:I5V;ENSP00000408469:I5V;ENSP00000355802:I5V	ENSP00000272167:I5V	I	+	1	0	EPHX1	224083066	0.961000	0.32948	0.335000	0.25508	0.257000	0.26127	0.908000	0.28545	-0.031000	0.13781	0.379000	0.24179	ATC		0.587	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		4	19	0	0	0	1	0	4	19				
TTI2	80185	broad.mit.edu	37	8	33357854	33357854	+	Missense_Mutation	SNP	G	G	A	rs190298167	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:33357854G>A	ENST00000431156.2	-	7	2032	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	TTI2_ENST00000520636.1_Missense_Mutation_p.R441W|TTI2_ENST00000519356.1_5'UTR|MAK16_ENST00000360128.6_3'UTR|TTI2_ENST00000360742.5_Missense_Mutation_p.R472W	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	472																	ACCTTTACCCGTCCTTGAGAA	0.468													G|||	4	0.000798722	0.0	0.0	5008	,	,		6133	0.001		0.001	False		,,,				2504	0.002					ENST00000431156.2																			0											c.(1414-1416)Cgg>Tgg		TELO2 interacting protein 2							80.0	70.0	73.0					8																	33357854		2203	4300	6503	SO:0001583	missense	80185						binding	g.chr8:33357854G>A	AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.1414C>T	8.37:g.33357854G>A	ENSP00000411169:p.Arg472Trp					TTI2_ENST00000360742.5_Missense_Mutation_p.R472W|TTI2_ENST00000519356.1_5'UTR|MAK16_ENST00000360128.6_3'UTR|TTI2_ENST00000520636.1_Missense_Mutation_p.R441W	p.R472W	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN			7	2032	-			472					D3DSV7|Q96IM2|Q9H5N4	Missense_Mutation	SNP	ENST00000431156.2	37	c.1414C>T	CCDS6090.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.59	3.166269	0.57476	.	.	ENSG00000129696	ENST00000360742;ENST00000431156;ENST00000522668;ENST00000520636	T;T;T	0.56103	0.48;0.48;0.49	5.38	5.38	0.77491	.	0.609692	0.16624	N	0.206367	T	0.49115	0.1538	L	0.36672	1.1	0.80722	D	1	D;D	0.69078	0.995;0.997	B;B	0.44315	0.446;0.332	T	0.54801	-0.8239	10	0.66056	D	0.02	-5.4564	16.6358	0.85059	0.0:0.0:1.0:0.0	.	472;441	Q6NXR4;E5RIH5	TTI2_HUMAN;.	W	472;472;461;441	ENSP00000353971:R472W;ENSP00000411169:R472W;ENSP00000428401:R441W	ENSP00000353971:R472W	R	-	1	2	C8orf41	33477396	0.056000	0.20664	0.120000	0.21714	0.407000	0.30961	2.467000	0.45093	2.523000	0.85059	0.557000	0.71058	CGG		0.468	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115		11	30	0	0	0	1	0	11	30				
SWT1	54823	broad.mit.edu	37	1	185259915	185259915	+	Missense_Mutation	SNP	A	A	G	rs200005543		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:185259915A>G	ENST00000367500.4	+	19	2848	c.2683A>G	c.(2683-2685)Atg>Gtg	p.M895V	SWT1_ENST00000367501.3_Missense_Mutation_p.M895V	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	895										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GTGTGAAGACATGCTCAACTA	0.403													A|||	1	0.000199681	0.0	0.0	5008	,	,		15012	0.0		0.001	False		,,,				2504	0.0					ENST00000367500.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(2683-2685)Atg>Gtg		SWT1 RNA endoribonuclease homolog (S. cerevisiae)		A	VAL/MET,VAL/MET	0,4406		0,0,2203	91.0	89.0	89.0		2683,2683	2.0	0.0	1		89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SWT1	NM_001105518.1,NM_017673.6	21,21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	895/901,895/901	185259915	1,13005	2203	4300	6503	SO:0001583	missense	54823							g.chr1:185259915A>G	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.2683A>G	1.37:g.185259915A>G	ENSP00000356470:p.Met895Val					SWT1_ENST00000367501.3_Missense_Mutation_p.M895V	p.M895V	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN			19	2848	+			895					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.2683A>G	CCDS1367.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	1.518	-0.547793	0.04024	0.0	1.16E-4	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.19394	2.15;2.15	5.67	2.02	0.26589	.	0.691975	0.14405	N	0.321602	T	0.12860	0.0312	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.25916	-1.0118	10	0.37606	T	0.19	.	5.6068	0.17385	0.4326:0.3484:0.219:0.0	.	895	Q5T5J6	SWT1_HUMAN	V	895	ENSP00000356471:M895V;ENSP00000356470:M895V	ENSP00000356470:M895V	M	+	1	0	SWT1	183526538	0.394000	0.25246	0.018000	0.16275	0.087000	0.18053	1.486000	0.35530	0.085000	0.17107	-0.261000	0.10672	ATG		0.403	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		11	16	0	0	0	1	0	11	16				
GMIP	51291	broad.mit.edu	37	19	19748735	19748735	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:19748735C>A	ENST00000203556.4	-	10	1058	c.921G>T	c.(919-921)ctG>ctT	p.L307L	GMIP_ENST00000587238.1_Silent_p.L307L|GMIP_ENST00000445806.2_Silent_p.L307L|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	307					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCACCCGCCTCAGCACTTCAT	0.672																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(919-921)ctG>ctT		GEM interacting protein							60.0	48.0	52.0					19																	19748735		2203	4300	6503	SO:0001819	synonymous_variant	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19748735C>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.921G>T	19.37:g.19748735C>A						GMIP_ENST00000445806.2_Silent_p.L307L|GMIP_ENST00000587238.1_Silent_p.L307L	p.L307L	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			10	1058	-			307					A0AVN9|B7ZLZ0	Silent	SNP	ENST00000203556.4	37	c.921G>T	CCDS12408.1																																																																																				0.672	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		8	15	1	0	2.17888e-05	1	2.2449e-05	8	15				
GIGYF1	64599	broad.mit.edu	37	7	100280926	100280926	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:100280926C>T	ENST00000275732.5	-	18	3403		c.e18+1		GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1						insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGAGCACCCACGTGCTTGCGC	0.642																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.e18+1		GRB10 interacting GYF protein 1							61.0	73.0	69.0					7																	100280926		2203	4300	6503	SO:0001630	splice_region_variant	64599							g.chr7:100280926C>T	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2193+1G>A	7.37:g.100280926C>T								NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			18	3403	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)							Q6Y7W7|Q8WZ38	Splice_Site	SNP	ENST00000275732.5	37		CCDS34708.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563770	0.45694	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2952	0.43620	0.0:0.7994:0.2006:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GIGYF1	100118862	1.000000	0.71417	0.963000	0.40424	0.624000	0.37722	3.055000	0.49916	2.261000	0.74972	0.313000	0.20887	.		0.642	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574	Intron	30	49	0	0	0	1	0	30	49				
NASP	4678	broad.mit.edu	37	1	46073658	46073658	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:46073658G>A	ENST00000350030.3	+	6	1162	c.1075G>A	c.(1075-1077)Gct>Act	p.A359T	NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.A295T|NASP_ENST00000351223.3_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.A361T	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	359	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGCTGTAGAGGCTGGATCAGA	0.527																																						ENST00000350030.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17						c.(1075-1077)Gct>Act		nuclear autoantigenic sperm protein (histone-binding)							86.0	96.0	93.0					1																	46073658		2203	4300	6503	SO:0001583	missense	4678				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	g.chr1:46073658G>A	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1075G>A	1.37:g.46073658G>A	ENSP00000255120:p.Ala359Thr					NASP_ENST00000351223.3_Intron|NASP_ENST00000372052.4_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.A361T|NASP_ENST00000537798.1_Missense_Mutation_p.A295T	p.A359T	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN			6	1162	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		359			Glu-rich (acidic).		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	c.1075G>A	CCDS524.1	.	.	.	.	.	.	.	.	.	.	G	7.751	0.703415	0.15172	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030	D;D;D	0.94758	-3.51;-3.51;-3.51	5.41	3.43	0.39272	.	0.956771	0.08643	N	0.915310	D	0.89283	0.6671	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.31680	0.328;0.335;0.19;0.099;0.253	B;B;B;B;B	0.31101	0.124;0.086;0.11;0.04;0.087	T	0.77765	-0.2465	9	.	.	.	0.2974	10.7559	0.46237	0.0:0.1427:0.7087:0.1485	.	295;359;259;359;361	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	T	295;361;259;359	ENSP00000438871:A295T;ENSP00000384529:A361T;ENSP00000255120:A359T	.	A	+	1	0	NASP	45846245	0.948000	0.32251	0.143000	0.22291	0.539000	0.34962	0.914000	0.28624	0.697000	0.31718	0.557000	0.71058	GCT		0.527	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		28	81	0	0	0	1	0	28	81				
RNF215	200312	broad.mit.edu	37	22	30776149	30776149	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr22:30776149T>C	ENST00000382363.3	-	7	984	c.910A>G	c.(910-912)Aag>Gag	p.K304E	RP1-130H16.16_ENST00000332468.4_RNA	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	304						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CGCCGTGTCTTGAGGGATGCC	0.657																																						ENST00000382363.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(910-912)Aag>Gag		ring finger protein 215							54.0	63.0	60.0					22																	30776149		2203	4300	6503	SO:0001583	missense	200312					integral to membrane	zinc ion binding	g.chr22:30776149T>C		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"""RING-type (C3HC4) zinc fingers"""	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.910A>G	22.37:g.30776149T>C	ENSP00000371800:p.Lys304Glu						p.K304E	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN			7	984	-			304					A6NEL1	Missense_Mutation	SNP	ENST00000382363.3	37	c.910A>G	CCDS33633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.657403|4.657403	0.88154|0.88154	.|.	.|.	ENSG00000099999|ENSG00000099999	ENST00000382363|ENST00000215798	T|.	0.18960|.	2.18|.	3.61|3.61	3.61|3.61	0.41365|0.41365	.|.	0.197313|.	0.42294|.	D|.	0.000723|.	T|T	0.43411|0.43411	0.1246|0.1246	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D|.	0.58268|.	0.982|.	P|.	0.49799|.	0.622|.	T|T	0.25398|0.25398	-1.0133|-1.0133	10|5	0.25751|.	T|.	0.34|.	-24.3446|-24.3446	10.9128|10.9128	0.47118|0.47118	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	304|.	Q9Y6U7|.	RN215_HUMAN|.	E|R	304|241	ENSP00000371800:K304E|.	ENSP00000371800:K304E|.	K|Q	-|-	1|2	0|0	RNF215|RNF215	29106149|29106149	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	1.391000|1.391000	0.34475|0.34475	1.643000|1.643000	0.50594|0.50594	0.459000|0.459000	0.35465|0.35465	AAG|CAA		0.657	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	NM_001017981		10	65	0	0	0	1	0	10	65				
TEKT5	146279	broad.mit.edu	37	16	10788424	10788424	+	Missense_Mutation	SNP	G	G	A	rs143356838		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:10788424G>A	ENST00000283025.2	-	1	378	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	103						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TCGGCCCCACGCACCTGCAGC	0.672																																						ENST00000283025.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						c.(307-309)Cgt>Tgt		tektin 5		G	CYS/ARG	1,4393		0,1,2196	59.0	69.0	66.0		307	2.3	0.0	16	dbSNP_134	66	0,8600		0,0,4300	no	missense	TEKT5	NM_144674.1	180	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	benign	103/486	10788424	1,12993	2197	4300	6497	SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10788424G>A		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.307C>T	16.37:g.10788424G>A	ENSP00000283025:p.Arg103Cys						p.R103C	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN			1	378	-			103					A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.307C>T	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	.	6.466	0.454167	0.12283	2.28E-4	0.0	ENSG00000153060	ENST00000283025	T	0.02682	4.2	5.4	2.26	0.28386	.	0.645656	0.14114	N	0.340523	T	0.02342	0.0072	N	0.25485	0.75	0.20764	N	0.999857	B	0.17268	0.021	B	0.21151	0.033	T	0.45041	-0.9288	10	0.49607	T	0.09	-4.9599	4.1399	0.10188	0.0768:0.1249:0.405:0.3933	.	103	Q96M29	TEKT5_HUMAN	C	103	ENSP00000283025:R103C	ENSP00000283025:R103C	R	-	1	0	TEKT5	10695925	0.015000	0.18098	0.001000	0.08648	0.142000	0.21351	1.092000	0.30927	0.298000	0.22638	0.650000	0.86243	CGT		0.672	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		7	78	0	0	0	1	0	7	78				
TMEM128	85013	broad.mit.edu	37	4	4239662	4239662	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:4239662G>A	ENST00000382753.4	-	4	408	c.399C>T	c.(397-399)tgC>tgT	p.C133C	TMEM128_ENST00000538516.1_Intron|TMEM128_ENST00000540397.1_Splice_Site_p.C133C|TMEM128_ENST00000254742.2_Splice_Site_p.C109C			Q5BJH2	TM128_HUMAN	transmembrane protein 128	133						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		CAATGTTGAAGCTGAAAAGAA	0.343																																						ENST00000254742.2																			0				endometrium(1)|kidney(1)	2						c.e4-1		transmembrane protein 128							44.0	38.0	40.0					4																	4239662		2203	4300	6503	SO:0001630	splice_region_variant	85013					integral to membrane		g.chr4:4239662G>A	BC007729	CCDS3373.1, CCDS75099.1	4p16.3	2008-02-05			ENSG00000132406	ENSG00000132406			28201	protein-coding gene	gene with protein product							Standard	XM_005248034		Approved	MGC13159	uc003ghq.1	Q5BJH2	OTTHUMG00000125475	ENST00000382753.4:c.399-1C>T	4.37:g.4239662G>A						TMEM128_ENST00000538516.1_Intron|TMEM128_ENST00000540397.1_Splice_Site_p.C133_splice|TMEM128_ENST00000382753.4_Splice_Site_p.C133_splice	p.C109_splice	NM_032927.2	NP_116316.1	Q5BJH2	TM128_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.166)	4	913	-			133					B4DHS7|D3DVS3|Q5H9U6|Q96I94	Splice_Site	SNP	ENST00000382753.4	37	c.326_splice																																																																																					0.343	TMEM128-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000246798.2	NM_032927	Silent	8	33	0	0	0	1	0	8	33				
GABRA5	2558	broad.mit.edu	37	15	27193181	27193181	+	Missense_Mutation	SNP	C	C	T	rs565602814		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:27193181C>T	ENST00000335625.5	+	11	2078	c.1190C>T	c.(1189-1191)aCg>aTg	p.T397M	GABRA5_ENST00000355395.5_Missense_Mutation_p.T397M|GABRA5_ENST00000400081.3_Missense_Mutation_p.T397M	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	397					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CCAGCAGGGACGTCGAATACA	0.423																																						ENST00000335625.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(1189-1191)aCg>aTg		gamma-aminobutyric acid (GABA) A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						48.0	46.0	47.0					15																	27193181		1861	4099	5960	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27193181C>T		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1190C>T	15.37:g.27193181C>T	ENSP00000335592:p.Thr397Met					GABRA5_ENST00000355395.5_Missense_Mutation_p.T397M|GABRA5_ENST00000400081.3_Missense_Mutation_p.T397M	p.T397M	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	11	2078	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	397					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.1190C>T	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	C	4.187	0.033339	0.08101	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.85629	-2.01;-2.01;-2.01	4.39	2.44	0.29823	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.435592	0.25738	N	0.028639	T	0.70902	0.3277	N	0.08118	0	0.26656	N	0.972005	B	0.28082	0.2	B	0.34301	0.179	T	0.65030	-0.6267	10	0.52906	T	0.07	.	8.5135	0.33231	0.0:0.7246:0.0:0.2754	.	397	P31644	GBRA5_HUMAN	M	397	ENSP00000335592:T397M;ENSP00000347557:T397M;ENSP00000382953:T397M	ENSP00000335592:T397M	T	+	2	0	GABRA5	24775927	0.995000	0.38212	0.288000	0.24862	0.230000	0.25150	2.604000	0.46274	0.952000	0.37798	0.591000	0.81541	ACG		0.423	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			4	13	0	0	0	1	0	4	13				
TRAPPC8	22878	broad.mit.edu	37	18	29488975	29488975	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr18:29488975T>C	ENST00000283351.4	-	7	1201		c.e7-2		TRAPPC8_ENST00000582513.1_Splice_Site|TRAPPC8_ENST00000582539.1_Splice_Site	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8						vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTAAGCCATCTACTGAAAAAG	0.358																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.e7-2		trafficking protein particle complex 8							60.0	56.0	58.0					18																	29488975		2203	4300	6503	SO:0001630	splice_region_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29488975T>C	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.866-2A>G	18.37:g.29488975T>C						TRAPPC8_ENST00000582539.1_Splice_Site|TRAPPC8_ENST00000582513.1_Splice_Site		NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			7	1201	-								A0JP15|B3KME5|Q9H0L2	Splice_Site	SNP	ENST00000283351.4	37		CCDS11901.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.965290	0.53507	.	.	ENSG00000153339	ENST00000283351	.	.	.	5.56	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2984	0.54860	0.0:0.0:0.1413:0.8587	.	.	.	.	.	-1	.	.	.	-	.	.	TRAPPC8	27742973	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	3.090000	0.50191	2.115000	0.64714	0.528000	0.53228	.		0.358	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939	Intron	11	30	0	0	0	1	0	11	30				
FHOD1	29109	broad.mit.edu	37	16	67264379	67264379	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:67264379G>A	ENST00000258201.4	-	19	3136	c.2889C>T	c.(2887-2889)taC>taT	p.Y963Y		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	963	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CCTGCGGGGTGTAGCCCAGGT	0.602																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2887-2889)taC>taT		formin homology 2 domain containing 1							81.0	84.0	83.0					16																	67264379		2198	4300	6498	SO:0001819	synonymous_variant	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67264379G>A	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2889C>T	16.37:g.67264379G>A						FHOD1_ENST00000567687.1_Silent_p.Y542Y	p.Y963Y	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	19	3136	-		Ovarian(137;0.0563)	963			FH2.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	ENST00000258201.4	37	c.2889C>T	CCDS10834.1																																																																																				0.602	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			13	79	0	0	0	1	0	13	79				
SLC6A3	6531	broad.mit.edu	37	5	1422012	1422012	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:1422012C>A	ENST00000270349.9	-	5	898	c.771G>T	c.(769-771)aaG>aaT	p.K257N	SLC6A3_ENST00000453492.2_Missense_Mutation_p.K257N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	257					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCTTCACGCCCTTCCAGAGGC	0.637																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(769-771)aaG>aaT		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						111.0	95.0	100.0					5																	1422012		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1422012C>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.771G>T	5.37:g.1422012C>A	ENSP00000270349:p.Lys257Asn					SLC6A3_ENST00000453492.2_Missense_Mutation_p.K257N	p.K257N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		5	898	-			257					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.771G>T	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709582	0.48517	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.80909	-1.43;-1.43;-1.43	4.4	2.13	0.27403	.	0.110904	0.64402	D	0.000013	D	0.87485	0.6189	M	0.82923	2.615	0.46849	D	0.999224	D	0.89917	1.0	D	0.81914	0.995	D	0.86374	0.1725	10	0.87932	D	0	.	6.8239	0.23872	0.0:0.7116:0.0:0.2884	.	257	Q01959	SC6A3_HUMAN	N	257;257;183	ENSP00000270349:K257N;ENSP00000399806:K257N;ENSP00000429101:K183N	ENSP00000270349:K257N	K	-	3	2	SLC6A3	1475012	0.995000	0.38212	0.998000	0.56505	0.477000	0.33069	0.317000	0.19487	0.960000	0.38005	0.462000	0.41574	AAG		0.637	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		15	56	1	0	2.32078e-09	1	2.45943e-09	15	56				
TADA3	10474	broad.mit.edu	37	3	9825746	9825746	+	Missense_Mutation	SNP	C	C	T	rs547844232		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:9825746C>T	ENST00000301964.2	-	8	1630	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	TADA3_ENST00000343450.2_Missense_Mutation_p.A358T|TADA3_ENST00000440161.1_Missense_Mutation_p.A358T	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	358					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CGGTTGTGGGCACTAAGTGCC	0.627																																						ENST00000343450.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1072-1074)Gcc>Acc		transcriptional adaptor 3							74.0	56.0	62.0					3																	9825746		2203	4300	6503	SO:0001583	missense	10474				estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr3:9825746C>T	AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"""transcriptional adaptor 3 (NGG1 homolog, yeast)-like"""	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.1072G>A	3.37:g.9825746C>T	ENSP00000307684:p.Ala358Thr					TADA3_ENST00000301964.2_Missense_Mutation_p.A358T|TADA3_ENST00000440161.1_Missense_Mutation_p.A358T	p.A358T	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN			8	1619	-			358					Q6FI83|Q9UFS2	Missense_Mutation	SNP	ENST00000301964.2	37	c.1072G>A	CCDS2583.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894076	0.52121	.	.	ENSG00000171148	ENST00000301964;ENST00000440161;ENST00000343450	.	.	.	6.17	6.17	0.99709	.	0.104365	0.64402	D	0.000004	T	0.52725	0.1752	L	0.45581	1.43	0.53688	D	0.999976	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.44832	-0.9302	9	0.12103	T	0.63	-10.3611	13.2493	0.60041	0.0:0.9279:0.0:0.0721	.	358;358	O75528;A8K899	TADA3_HUMAN;.	T	358	.	ENSP00000307684:A358T	A	-	1	0	TADA3	9800746	0.996000	0.38824	0.992000	0.48379	0.796000	0.44982	2.550000	0.45811	2.941000	0.99782	0.655000	0.94253	GCC		0.627	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250236.1			5	20	0	0	0	1	0	5	20				
CFAP45	25790	broad.mit.edu	37	1	159860404	159860404	+	Silent	SNP	G	G	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:159860404G>C	ENST00000368099.4	-	3	202	c.138C>G	c.(136-138)gcC>gcG	p.A46A	CCDC19_ENST00000426543.2_5'UTR|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCTGGCCCTGGGCTGGGGACT	0.532																																						ENST00000368099.4																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(136-138)gcC>gcG		coiled-coil domain containing 19							93.0	94.0	94.0					1																	159860404		2203	4300	6503	SO:0001819	synonymous_variant	25790					mitochondrion|soluble fraction		g.chr1:159860404G>C																												ENST00000368099.4:c.138C>G	1.37:g.159860404G>C						CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR	p.A46A	NM_012337.2	NP_036469.2	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		3	202	-	all_hematologic(112;0.0597)		46						Silent	SNP	ENST00000368099.4	37	c.138C>G	CCDS30914.1																																																																																				0.532	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			4	55	0	0	0	1	0	4	55				
KSR1	8844	broad.mit.edu	37	17	25944348	25944348	+	Missense_Mutation	SNP	G	G	A	rs560099866	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:25944348G>A	ENST00000319524.6	+	20	2587	c.2587G>A	c.(2587-2589)Gac>Aac	p.D863N	KSR1_ENST00000268763.6_Missense_Mutation_p.D726N|KSR1_ENST00000509603.2_Missense_Mutation_p.D841N|KSR1_ENST00000582410.1_Missense_Mutation_p.D77N|KSR1_ENST00000398988.3_Missense_Mutation_p.D726N			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	863	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTGGGCTTTCGACCTGCAGGA	0.607													G|||	2	0.000399361	0.0	0.0	5008	,	,		17876	0.002		0.0	False		,,,				2504	0.0				Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(2176-2178)Gac>Aac		kinase suppressor of ras 1							32.0	34.0	33.0					17																	25944348		2011	4157	6168	SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25944348G>A	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.2587G>A	17.37:g.25944348G>A	ENSP00000323178:p.Asp863Asn					KSR1_ENST00000319524.6_Missense_Mutation_p.D863N|KSR1_ENST00000582410.1_Missense_Mutation_p.D77N|KSR1_ENST00000509603.2_Missense_Mutation_p.D841N|KSR1_ENST00000268763.6_Missense_Mutation_p.D726N	p.D726N	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	21	2621	+	Lung NSC(42;0.00836)		861			Protein kinase.		F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.2176G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.86|12.86	2.065225|2.065225	0.36470|0.36470	.|.	.|.	ENSG00000141068|ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982|ENST00000398988	T;T;T|.	0.48522|.	0.81;0.81;0.81|.	5.32|5.32	4.35|4.35	0.52113|0.52113	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.096478|.	0.64402|.	N|.	0.000001|.	T|T	0.39733|0.39733	0.1089|0.1089	N|N	0.11724|0.11724	0.165|0.165	0.45852|0.45852	D|D	0.998711|0.998711	B;B|.	0.24258|.	0.1;0.019|.	B;B|.	0.19148|.	0.024;0.012|.	T|T	0.11616|0.11616	-1.0580|-1.0580	10|5	0.22109|.	T|.	0.4|.	.|.	14.1505|14.1505	0.65381|0.65381	0.1411:0.0:0.8589:0.0|0.1411:0.0:0.8589:0.0	.|.	861;841|.	Q8IVT5;F5H0K8|.	KSR1_HUMAN;.|.	N|Q	863;841;726;726|576	ENSP00000323178:D863N;ENSP00000438795:D841N;ENSP00000268763:D726N|.	ENSP00000268763:D726N|.	D|R	+|+	1|2	0|0	KSR1|KSR1	22968475|22968475	1.000000|1.000000	0.71417|0.71417	0.663000|0.663000	0.29738|0.29738	0.896000|0.896000	0.52359|0.52359	3.405000|3.405000	0.52630|0.52630	0.643000|0.643000	0.30638|0.30638	-1.151000|-1.151000	0.01829|0.01829	GAC|CGA		0.607	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		4	17	0	0	0	1	0	4	17				
BAZ1A	11177	broad.mit.edu	37	14	35255348	35255348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr14:35255348C>T	ENST00000382422.2	-	12	1917	c.1590G>A	c.(1588-1590)tgG>tgA	p.W530*	BAZ1A_ENST00000358716.4_Intron|BAZ1A_ENST00000360310.1_Nonsense_Mutation_p.W530*			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	530					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GTAACTGTGGCCATGCAGCTG	0.358																																						ENST00000360310.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1588-1590)tgG>tgA		bromodomain adjacent to zinc finger domain, 1A							43.0	41.0	42.0					14																	35255348		2203	4300	6503	SO:0001587	stop_gained	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35255348C>T	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.1590G>A	14.37:g.35255348C>T	ENSP00000371859:p.Trp530*					BAZ1A_ENST00000358716.4_Intron|BAZ1A_ENST00000382422.2_Nonsense_Mutation_p.W530*	p.W530*	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	13	2157	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		530					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Nonsense_Mutation	SNP	ENST00000382422.2	37	c.1590G>A	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	C	44	11.044200	0.99507	.	.	ENSG00000198604	ENST00000382422;ENST00000360310	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7299	0.91731	0.0:1.0:0.0:0.0	.	.	.	.	X	530	.	ENSP00000353458:W530X	W	-	3	0	BAZ1A	34325099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.349000	0.79376	2.405000	0.81733	0.555000	0.69702	TGG		0.358	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			5	27	0	0	0	1	0	5	27				
ARHGEF19	128272	broad.mit.edu	37	1	16534048	16534048	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:16534048G>A	ENST00000270747.3	-	5	979	c.843C>T	c.(841-843)aaC>aaT	p.N281N	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	281					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGCCGCTCGTTGGTGCTCC	0.622																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(841-843)aaC>aaT		Rho guanine nucleotide exchange factor (GEF) 19							57.0	53.0	55.0					1																	16534048		2203	4300	6503	SO:0001819	synonymous_variant	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16534048G>A	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.843C>T	1.37:g.16534048G>A						ARHGEF19_ENST00000421561.1_Silent_p.N281N	p.N281N	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	5	979	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	281					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	ENST00000270747.3	37	c.843C>T	CCDS170.1																																																																																				0.622	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		7	20	0	0	0	1	0	7	20				
TFR2	7036	broad.mit.edu	37	7	100218565	100218565	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:100218565C>T	ENST00000462107.1	-	19	2608	c.2321G>A	c.(2320-2322)cGt>cAt	p.R774H	TFR2_ENST00000544242.1_Missense_Mutation_p.R315H|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.R774H			Q9UP52	TFR2_HUMAN	transferrin receptor 2	774					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	GGCTAGCTGACGCCGGAAACG	0.657																																						ENST00000462107.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(2320-2322)cGt>cAt		transferrin receptor 2							31.0	29.0	30.0					7																	100218565		2203	4300	6503	SO:0001583	missense	7036				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity	g.chr7:100218565C>T	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.2321G>A	7.37:g.100218565C>T	ENSP00000420525:p.Arg774His					TFR2_ENST00000544242.1_Missense_Mutation_p.R315H|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.R774H	p.R774H			Q9UP52	TFR2_HUMAN			19	2608	-	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		774					A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	ENST00000462107.1	37	c.2321G>A	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634411	0.87660	.	.	ENSG00000106327	ENST00000223051;ENST00000462107;ENST00000544242	T;T;T	0.60171	0.21;0.21;0.21	5.54	4.64	0.57946	Transferrin receptor-like, dimerisation domain (3);	0.114726	0.53938	D	0.000050	T	0.61776	0.2374	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.59852	-0.7376	10	0.48119	T	0.1	-12.2735	10.5447	0.45054	0.0:0.9109:0.0:0.0891	.	774	Q9UP52	TFR2_HUMAN	H	774;774;315	ENSP00000223051:R774H;ENSP00000420525:R774H;ENSP00000443656:R315H	ENSP00000223051:R774H	R	-	2	0	TFR2	100056501	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	0.281000	0.18810	2.890000	0.99128	0.650000	0.86243	CGT		0.657	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		10	16	0	0	0	1	0	10	16				
NCSTN	23385	broad.mit.edu	37	1	160314573	160314573	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:160314573C>A	ENST00000294785.5	+	2	272	c.147C>A	c.(145-147)ccC>ccA	p.P49P	COPA_ENST00000241704.7_5'Flank|COPA_ENST00000368069.3_5'Flank|NCSTN_ENST00000535857.1_Silent_p.P49P|NCSTN_ENST00000392212.4_Silent_p.P29P|NCSTN_ENST00000368063.1_Silent_p.P29P	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	49					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAACAGCTCCCTGTGTTCGCC	0.428																																						ENST00000368063.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34						c.(85-87)ccC>ccA		nicastrin							94.0	83.0	87.0					1																	160314573		2203	4300	6503	SO:0001819	synonymous_variant	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160314573C>A	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.147C>A	1.37:g.160314573C>A						NCSTN_ENST00000392212.4_Silent_p.P29P|NCSTN_ENST00000535857.1_Silent_p.P49P|NCSTN_ENST00000294785.5_Silent_p.P49P	p.P29P			Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	367	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		49					Q5T207|Q5T208|Q86VV5	Silent	SNP	ENST00000294785.5	37	c.87C>A	CCDS1203.1																																																																																				0.428	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		4	23	1	0	0.00024832	1	0.000253286	4	23				
C3orf20	84077	broad.mit.edu	37	3	14746120	14746120	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:14746120C>T	ENST00000253697.3	+	7	1607	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000412910.1_Silent_p.F263F|C3orf20_ENST00000435614.1_Silent_p.F263F	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	385						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GCTCCTCCTTCGTTTAGTATC	0.463																																						ENST00000253697.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.(1153-1155)ttC>ttT		chromosome 3 open reading frame 20							196.0	177.0	184.0					3																	14746120		2203	4300	6503	SO:0001819	synonymous_variant	84077					cytoplasm|integral to membrane		g.chr3:14746120C>T	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1155C>T	3.37:g.14746120C>T						C3orf20_ENST00000435614.1_Silent_p.F263F|C3orf20_ENST00000412910.1_Silent_p.F263F|C3orf20_ENST00000495387.1_3'UTR	p.F385F	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN			7	1607	+			385					Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	ENST00000253697.3	37	c.1155C>T	CCDS33706.1																																																																																				0.463	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		33	99	0	0	0	1	0	33	99				
MED29	55588	broad.mit.edu	37	19	39879989	39879989	+	5'Flank	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:39879989G>A	ENST00000599213.2	+	0	0				MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000595564.1_Nonsense_Mutation_p.R122*|MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000221266.7_Nonsense_Mutation_p.R122*|PAF1_ENST00000221265.3_Nonsense_Mutation_p.R132*			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCTGTCTTTCGCATCCATGGC	0.542																																						ENST00000221265.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17						c.(394-396)Cga>Tga		Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)							106.0	95.0	98.0					19																	39879989		2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39879989G>A	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39879989G>A	Exception_encountered					PAF1_ENST00000221266.7_Nonsense_Mutation_p.R122*|PAF1_ENST00000595564.1_Nonsense_Mutation_p.R122*	p.R132*	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		6	724	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		132					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Nonsense_Mutation	SNP	ENST00000599213.2	37	c.394C>T		.	.	.	.	.	.	.	.	.	.	g	38	6.653719	0.97739	.	.	ENSG00000006712	ENST00000221265;ENST00000221266;ENST00000416728	.	.	.	5.31	3.08	0.35506	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.611	10.8485	0.46757	0.0:0.0:0.5179:0.4821	.	.	.	.	X	132;122;79	.	ENSP00000221265:R132X	R	-	1	2	PAF1	44571829	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.043000	0.57354	1.435000	0.47434	0.558000	0.71614	CGA		0.542	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		22	54	0	0	0	1	0	22	54				
CABLES1	91768	broad.mit.edu	37	18	20768869	20768869	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr18:20768869C>T	ENST00000256925.7	+	2	913	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	CABLES1_ENST00000400473.2_5'UTR|CABLES1_ENST00000585061.1_3'UTR|CABLES1_ENST00000420687.2_Missense_Mutation_p.R40W	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	305	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGCCCCTCTCCGGAGGTAATT	0.398																																						ENST00000256925.7																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11						c.(913-915)Cgg>Tgg		Cdk5 and Abl enzyme substrate 1							46.0	44.0	44.0					18																	20768869		1810	4071	5881	SO:0001583	missense	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20768869C>T	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.913C>T	18.37:g.20768869C>T	ENSP00000256925:p.Arg305Trp					CABLES1_ENST00000420687.2_Missense_Mutation_p.R40W|CABLES1_ENST00000585061.1_3'UTR|CABLES1_ENST00000400473.2_5'UTR	p.R305W	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN			2	913	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		305			Interacts with CDK3 (By similarity).		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	37	c.913C>T	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216521	0.95104	.	.	ENSG00000134508	ENST00000256925;ENST00000420687	T;T	0.49139	0.79;0.83	5.66	5.66	0.87406	.	0.113006	0.64402	D	0.000007	T	0.64260	0.2582	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.986;1.0	P;D	0.69654	0.636;0.965	T	0.64769	-0.6329	10	0.72032	D	0.01	-9.8525	19.8141	0.96558	0.0:1.0:0.0:0.0	.	40;305	Q8TDN4-2;Q8TDN4	.;CABL1_HUMAN	W	305;40	ENSP00000256925:R305W;ENSP00000413851:R40W	ENSP00000256925:R305W	R	+	1	2	CABLES1	19022867	0.994000	0.37717	1.000000	0.80357	0.991000	0.79684	2.871000	0.48459	2.697000	0.92050	0.556000	0.70494	CGG		0.398	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		5	15	0	0	0	1	0	5	15				
KCTD8	386617	broad.mit.edu	37	4	44450453	44450453	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:44450453C>T	ENST00000360029.3	-	1	371	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	30					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						gcggcggcggccgacgcgccg	0.687										HNSCC(17;0.042)																												ENST00000360029.3																			0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(88-90)Gcc>Acc		potassium channel tetramerization domain containing 8							9.0	9.0	9.0					4																	44450453		2004	3955	5959	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44450453C>T	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.88G>A	4.37:g.44450453C>T	ENSP00000353129:p.Ala30Thr	HNSCC(17;0.042)					p.A30T	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN			1	371	-			30					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.88G>A	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	C	3.092	-0.186603	0.06340	.	.	ENSG00000183783	ENST00000360029	T	0.38401	1.14	4.15	2.08	0.27032	.	0.932993	0.08828	N	0.887792	T	0.17109	0.0411	N	0.08118	0	0.09310	N	1	B	0.19445	0.036	B	0.14578	0.011	T	0.31806	-0.9930	10	0.11182	T	0.66	.	7.5936	0.28035	0.2321:0.5989:0.1689:0.0	.	30	Q6ZWB6	KCTD8_HUMAN	T	30	ENSP00000353129:A30T	ENSP00000353129:A30T	A	-	1	0	KCTD8	44145210	0.996000	0.38824	0.002000	0.10522	0.262000	0.26303	-0.159000	0.10056	0.163000	0.19507	0.467000	0.42956	GCC		0.687	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			4	4	0	0	0	1	0	4	4				
CROCCP2	84809	broad.mit.edu	37	1	16956572	16956572	+	lincRNA	SNP	G	G	A	rs112034187		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:16956572G>A	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CACTCTCGCTGTCGCTAAGCT	0.642																																						ENST00000412962.1																			0																																																			0							g.chr1:16956572G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16956572G>A														0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.642	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	33	0	0	0	1	0	5	33				
ADCY6	112	broad.mit.edu	37	12	49169815	49169815	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:49169815C>T	ENST00000307885.4	-	8	2431	c.1737G>A	c.(1735-1737)ggG>ggA	p.G579G	ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Silent_p.G579G|ADCY6_ENST00000550422.1_Silent_p.G579G	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	579					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GCGGCATCAGCCCTTCCATGG	0.647																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1735-1737)ggG>ggA		adenylate cyclase 6							50.0	45.0	47.0					12																	49169815		2203	4299	6502	SO:0001819	synonymous_variant	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49169815C>T		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1737G>A	12.37:g.49169815C>T						ADCY6_ENST00000550422.1_Silent_p.G579G|ADCY6_ENST00000357869.3_Silent_p.G579G|ADCY6_ENST00000552090.1_5'UTR	p.G579G	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			8	2431	-			579					Q9NR75|Q9UDB0	Silent	SNP	ENST00000307885.4	37	c.1737G>A	CCDS8767.1																																																																																				0.647	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		8	13	0	0	0	1	0	8	13				
DGKD	8527	broad.mit.edu	37	2	234371288	234371288	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:234371288G>T	ENST00000264057.2	+	26	3105		c.e26-1		DGKD_ENST00000409813.3_Splice_Site	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa						blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GTTTCTTCTAGGGGCTCAACT	0.592																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.e26-1		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)						135.0	140.0	138.0					2																	234371288		2203	4300	6503	SO:0001630	splice_region_variant	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234371288G>T	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.3094-1G>T	2.37:g.234371288G>T						DGKD_ENST00000409813.3_Splice_Site		NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	26	3105	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)						Q14158|Q6PK55|Q8NG53	Splice_Site	SNP	ENST00000264057.2	37		CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410086	0.25465	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	.	.	.	4.08	3.19	0.36642	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3888	0.60811	0.0:0.0:0.8412:0.1588	.	.	.	.	.	-1	.	.	.	+	.	.	DGKD	234036027	1.000000	0.71417	0.970000	0.41538	0.185000	0.23345	9.421000	0.97455	1.042000	0.40150	-0.181000	0.13052	.		0.592	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648	Intron	8	113	1	0	1.26484e-09	1	1.3439e-09	8	113				
FDXR	2232	broad.mit.edu	37	17	72860461	72860461	+	Missense_Mutation	SNP	G	G	A	rs571003894		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:72860461G>A	ENST00000293195.5	-	9	889	c.811C>T	c.(811-813)Cgc>Tgc	p.R271C	FDXR_ENST00000420580.2_Missense_Mutation_p.R231C|FDXR_ENST00000442102.2_Missense_Mutation_p.R314C|FDXR_ENST00000455107.2_Missense_Mutation_p.R227C|FDXR_ENST00000544854.1_Missense_Mutation_p.R219C|FDXR_ENST00000413947.2_Missense_Mutation_p.R302C|FDXR_ENST00000581530.1_Missense_Mutation_p.R277C|FDXR_ENST00000582944.1_Missense_Mutation_p.R263C|GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000581969.1_5'Flank|FDXR_ENST00000583917.1_Missense_Mutation_p.R243C	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	271					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	TTCCTCGGGCGGGGGACCTCT	0.687											OREG0024720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		14160	0.0		0.0	False		,,,				2504	0.001					ENST00000455107.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(679-681)Cgc>Tgc		ferredoxin reductase							17.0	20.0	19.0					17																	72860461		2173	4245	6418	SO:0001583	missense	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72860461G>A	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.811C>T	17.37:g.72860461G>A	ENSP00000293195:p.Arg271Cys		OREG0024720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1140	FDXR_ENST00000442102.2_Missense_Mutation_p.R314C|FDXR_ENST00000583917.1_Missense_Mutation_p.R243C|FDXR_ENST00000582944.1_Missense_Mutation_p.R263C|FDXR_ENST00000544854.1_Missense_Mutation_p.R219C|FDXR_ENST00000413947.2_Missense_Mutation_p.R302C|FDXR_ENST00000420580.2_Missense_Mutation_p.R231C|FDXR_ENST00000581530.1_Missense_Mutation_p.R277C|FDXR_ENST00000293195.5_Missense_Mutation_p.R271C	p.R227C			P22570	ADRO_HUMAN			10	1095	-	all_lung(278;0.172)|Lung NSC(278;0.207)		271					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	c.679C>T	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022999	0.35701	.	.	ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000455107;ENST00000442102;ENST00000413947	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.57562	0.2062	H	0.96269	3.795	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.995;0.999;0.971;0.998;0.998;0.999;0.998;0.998	T	0.70479	-0.4860	10	0.87932	D	0	-5.0617	11.6176	0.51098	0.0:0.0:0.7707:0.2293	.	231;314;302;269;219;302;271;263;271;277	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;.;ADRO_HUMAN;.	C	231;219;277;227;314;302	ENSP00000414172:R231C;ENSP00000445432:R219C;ENSP00000390875:R227C;ENSP00000416515:R314C;ENSP00000408595:R302C	ENSP00000293195:R277C	R	-	1	0	FDXR	70372056	1.000000	0.71417	0.716000	0.30569	0.028000	0.11728	2.686000	0.46968	1.924000	0.55735	0.462000	0.41574	CGC		0.687	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		5	22	0	0	0	1	0	5	22				
TMEM131	23505	broad.mit.edu	37	2	98418415	98418415	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:98418415C>G	ENST00000186436.5	-	25	2889	c.2661G>C	c.(2659-2661)ttG>ttC	p.L887F		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	887						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CCACCTTACTCAAGTTAAACC	0.299																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(2659-2661)ttG>ttC		transmembrane protein 131							81.0	79.0	79.0					2																	98418415		1822	4073	5895	SO:0001583	missense	23505					integral to membrane		g.chr2:98418415C>G	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2661G>C	2.37:g.98418415C>G	ENSP00000186436:p.Leu887Phe						p.L887F	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			25	2889	-			887						Missense_Mutation	SNP	ENST00000186436.5	37	c.2661G>C	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208394	0.58343	.	.	ENSG00000075568	ENST00000186436	T	0.34667	1.35	5.87	4.0	0.46444	.	0.071579	0.56097	D	0.000037	T	0.30727	0.0774	L	0.50333	1.59	0.80722	D	1	P	0.45902	0.868	B	0.42319	0.383	T	0.03503	-1.1030	10	0.33141	T	0.24	-10.2834	7.2626	0.26212	0.1333:0.7226:0.0:0.1442	.	887	Q92545	TM131_HUMAN	F	887	ENSP00000186436:L887F	ENSP00000186436:L887F	L	-	3	2	TMEM131	97784847	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.595000	0.36708	0.752000	0.32923	0.591000	0.81541	TTG		0.299	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		10	15	0	0	0	1	0	10	15				
GMPPB	29925	broad.mit.edu	37	3	49759676	49759676	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:49759676G>A	ENST00000480687.1	-	8	872	c.756C>T	c.(754-756)ggC>ggT	p.G252G	AMIGO3_ENST00000320431.7_5'Flank|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_Silent_p.G252G|GMPPB_ENST00000308388.6_Silent_p.G252G			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	252					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCAGCACGTTGCCCACAATGC	0.602																																						ENST00000480687.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6						c.(754-756)ggC>ggT		GDP-mannose pyrophosphorylase B							67.0	70.0	69.0					3																	49759676		2203	4300	6503	SO:0001819	synonymous_variant	29925				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr3:49759676G>A	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.756C>T	3.37:g.49759676G>A						GMPPB_ENST00000308388.6_Silent_p.G252G|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_Silent_p.G252G	p.G252G			Q9Y5P6	GMPPB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	8	872	-			252					A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	c.756C>T	CCDS2803.1																																																																																				0.602	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		6	46	0	0	0	1	0	6	46				
PRDM10	56980	broad.mit.edu	37	11	129800950	129800950	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:129800950C>T	ENST00000360871.3	-	11	1722	c.1491G>A	c.(1489-1491)acG>acA	p.T497T	PRDM10_ENST00000528746.1_Silent_p.T471T|PRDM10_ENST00000423662.2_Silent_p.T411T|PRDM10_ENST00000526082.1_Silent_p.T411T|PRDM10_ENST00000358825.5_Silent_p.T497T|PRDM10_ENST00000304538.6_Silent_p.T411T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGGCTGTCAGCGTGCTCTGGG	0.622																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(1489-1491)acG>acA		PR domain containing 10							142.0	131.0	135.0					11																	129800950		2201	4297	6498	SO:0001819	synonymous_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129800950C>T	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1491G>A	11.37:g.129800950C>T						PRDM10_ENST00000360871.3_Silent_p.T497T|PRDM10_ENST00000304538.6_Silent_p.T411T|PRDM10_ENST00000526082.1_Silent_p.T411T|PRDM10_ENST00000528746.1_Silent_p.T471T|PRDM10_ENST00000423662.2_Silent_p.T411T	p.T497T	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	11	1722	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	497					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	c.1491G>A	CCDS8484.1																																																																																				0.622	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		14	56	0	0	0	1	0	14	56				
DOT1L	84444	broad.mit.edu	37	19	2222180	2222180	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:2222180C>T	ENST00000398665.3	+	24	3048	c.3012C>T	c.(3010-3012)caC>caT	p.H1004H		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1004					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCGCCCACCAGCTCTCCT	0.701																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(3010-3012)caC>caT		DOT1-like histone H3K79 methyltransferase							31.0	41.0	38.0					19																	2222180		2007	4144	6151	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2222180C>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3012C>T	19.37:g.2222180C>T							p.H1004H	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	24	3048	+		Hepatocellular(1079;0.137)	1004					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.3012C>T	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	3.858	-0.030518	0.07543	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.43	1.01	0.19927	.	.	.	.	.	T	0.42787	0.1218	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24657	-1.0154	4	.	.	.	-17.6956	1.9619	0.03387	0.1345:0.4887:0.1316:0.2452	.	.	.	.	I	791	.	.	T	+	2	0	DOT1L	2173180	0.989000	0.36119	0.969000	0.41365	0.403000	0.30841	0.118000	0.15605	0.331000	0.23511	0.462000	0.41574	ACC		0.701	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		12	16	0	0	0	1	0	12	16				
SPAM1	6677	broad.mit.edu	37	7	123594472	123594472	+	Missense_Mutation	SNP	G	G	A	rs147745114		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:123594472G>A	ENST00000439500.1	+	4	1461	c.848G>A	c.(847-849)cGg>cAg	p.R283Q	SPAM1_ENST00000460182.1_Missense_Mutation_p.R283Q|SPAM1_ENST00000402183.2_Missense_Mutation_p.R283Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R283Q|SPAM1_ENST00000340011.5_Missense_Mutation_p.R283Q	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	283					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AATCGAGTTCGGGAAGCCATC	0.423																																						ENST00000340011.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(847-849)cGg>cAg		sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	Hyaluronidase(DB00070)	A	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	824.2+/-416.5	0,1,2202	83.0	78.0	80.0		848,848,848,848,848	-4.2	0.0	7	dbSNP_134	80	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	SPAM1	NM_001174044.1,NM_001174045.1,NM_001174046.1,NM_003117.4,NM_153189.2	43,43,43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	283/510,283/510,283/510,283/512,283/510	123594472	1,13005	2203	4300	6503	SO:0001583	missense	0				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594472G>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.848G>A	7.37:g.123594472G>A	ENSP00000402123:p.Arg283Gln					SPAM1_ENST00000439500.1_Missense_Mutation_p.R283Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R283Q|SPAM1_ENST00000460182.1_Missense_Mutation_p.R283Q|SPAM1_ENST00000402183.2_Missense_Mutation_p.R283Q	p.R283Q	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN			3	1205	+			283					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.848G>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	A	3.931	-0.016253	0.07681	2.27E-4	0.0	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	6.17	-4.25	0.03766	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.748815	0.13390	N	0.391461	T	0.04407	0.0121	N	0.01202	-0.96	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.31166	-0.9953	9	.	.	.	0.1308	2.7787	0.05355	0.5624:0.0881:0.1784:0.1711	.	283;283	Q8TC30;P38567	.;HYALP_HUMAN	Q	283	ENSP00000386028:R283Q;ENSP00000417934:R283Q;ENSP00000345849:R283Q;ENSP00000402123:R283Q;ENSP00000223028:R283Q	.	R	+	2	0	SPAM1	123381708	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.417000	0.21214	-1.439000	0.01962	-2.248000	0.00284	CGG		0.423	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			27	46	0	0	0	1	0	27	46				
GLTSCR1L	23506	broad.mit.edu	37	6	42832714	42832714	+	Missense_Mutation	SNP	C	C	T	rs575050000		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr6:42832714C>T	ENST00000314073.5	+	13	2946	c.2770C>T	c.(2770-2772)Cgg>Tgg	p.R924W	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.R924W			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	924																	GAAGGCCAGCCGGAGAGAGCC	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		19163	0.0		0.0	False		,,,				2504	0.001					ENST00000314073.5																			0											c.(2770-2772)Cgg>Tgg		GLTSCR1-like							46.0	47.0	47.0					6																	42832714		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42832714C>T	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2770C>T	6.37:g.42832714C>T	ENSP00000313933:p.Arg924Trp					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.R924W	p.R924W							13	2946	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.2770C>T	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677668	0.68042	.	.	ENSG00000112624	ENST00000394167;ENST00000314073;ENST00000394168	T;T	0.49139	0.79;0.79	5.34	3.45	0.39498	.	0.348813	0.26119	N	0.026233	T	0.17619	0.0423	L	0.27053	0.805	0.28239	N	0.925787	D	0.60160	0.987	B	0.43783	0.431	T	0.20605	-1.0270	10	0.62326	D	0.03	-8.4964	3.9461	0.09349	0.1312:0.5109:0.2671:0.0908	.	924	Q6AI39	K0240_HUMAN	W	924	ENSP00000313933:R924W;ENSP00000377723:R924W	ENSP00000313933:R924W	R	+	1	2	KIAA0240	42940692	0.950000	0.32346	0.972000	0.41901	0.980000	0.70556	1.411000	0.34702	2.651000	0.90000	0.650000	0.86243	CGG		0.517	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		6	34	0	0	0	1	0	6	34				
CCDC109B	55013	broad.mit.edu	37	4	110608693	110608693	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr4:110608693C>T	ENST00000394650.4	+	8	1089	c.956C>T	c.(955-957)gCg>gTg	p.A319V	CASP6_ENST00000510324.1_5'Flank	NM_017918.4	NP_060388.2	Q9NWR8	MCUB_HUMAN	coiled-coil domain containing 109B	319					mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of membrane (GO:0031224)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium channel inhibitor activity (GO:0019855)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		CTGAAACAGGCGCGTCATTCT	0.348																																						ENST00000394650.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9						c.(955-957)gCg>gTg		coiled-coil domain containing 109B							98.0	99.0	99.0					4																	110608693		2203	4300	6503	SO:0001583	missense	55013					integral to membrane		g.chr4:110608693C>T	BC002633	CCDS3683.2	4q25	2011-05-24			ENSG00000005059	ENSG00000005059			26076	protein-coding gene	gene with protein product						12477932	Standard	NM_017918		Approved	FLJ20647	uc011cfs.2	Q9NWR8	OTTHUMG00000161103	ENST00000394650.4:c.956C>T	4.37:g.110608693C>T	ENSP00000378145:p.Ala319Val						p.A319V	NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)	8	1089	+			319					A8K4Y3|Q6IAC1	Missense_Mutation	SNP	ENST00000394650.4	37	c.956C>T	CCDS3683.2	.	.	.	.	.	.	.	.	.	.	C	7.713	0.695583	0.15106	.	.	ENSG00000005059	ENST00000394650	T	0.20738	2.05	5.21	1.27	0.21489	.	0.261923	0.31358	N	0.007800	T	0.05547	0.0146	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35101	-0.9802	10	0.23302	T	0.38	-5.4866	4.8697	0.13625	0.1357:0.149:0.0:0.7153	.	319	Q9NWR8	C109B_HUMAN	V	319	ENSP00000378145:A319V	ENSP00000378145:A319V	A	+	2	0	CCDC109B	110828142	0.830000	0.29337	0.002000	0.10522	0.022000	0.10575	2.327000	0.43858	0.049000	0.15920	-1.279000	0.01387	GCG		0.348	CCDC109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254865.1	NM_017918		9	24	0	0	0	1	0	9	24				
GPRC5B	51704	broad.mit.edu	37	16	19883185	19883185	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:19883185C>A	ENST00000300571.2	-	2	1174	c.983G>T	c.(982-984)cGg>cTg	p.R328L	GPRC5B_ENST00000569479.1_Missense_Mutation_p.R328L|GPRC5B_ENST00000537135.1_Missense_Mutation_p.R354L|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R328L|GPRC5B_ENST00000569847.1_Missense_Mutation_p.R328L	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	328					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CATATAGGCCCGCGGCAGCTG	0.607																																						ENST00000300571.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(982-984)cGg>cTg		G protein-coupled receptor, family C, group 5, member B							78.0	75.0	76.0					16																	19883185		2197	4300	6497	SO:0001583	missense	0							g.chr16:19883185C>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.983G>T	16.37:g.19883185C>A	ENSP00000300571:p.Arg328Leu					GPRC5B_ENST00000569847.1_Missense_Mutation_p.R328L|GPRC5B_ENST00000569479.1_Missense_Mutation_p.R328L|GPRC5B_ENST00000537135.1_Missense_Mutation_p.R354L|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R328L	p.R328L	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN			2	1174	-			328					D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.983G>T	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446752	0.84101	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.30981	1.53;1.52;1.51	5.18	5.18	0.71444	.	0.727526	0.13189	N	0.406857	T	0.51975	0.1706	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	D;D	0.76071	0.947;0.987	T	0.33879	-0.9851	9	.	.	.	.	17.8587	0.88775	0.0:1.0:0.0:0.0	.	354;328	B7Z831;Q9NZH0	.;GPC5B_HUMAN	L	328;328;177;354	ENSP00000300571:R328L;ENSP00000442858:R328L;ENSP00000441775:R354L	.	R	-	2	0	GPRC5B	19790686	0.998000	0.40836	0.714000	0.30535	0.975000	0.68041	3.152000	0.50677	2.688000	0.91661	0.655000	0.94253	CGG		0.607	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			5	60	1	0	3.59834e-05	1	3.69804e-05	5	60				
BTAF1	9044	broad.mit.edu	37	10	93768864	93768864	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:93768864G>A	ENST00000265990.6	+	28	4310	c.4002G>A	c.(4000-4002)ccG>ccA	p.P1334P	BTAF1_ENST00000544642.1_Silent_p.P162P	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1334	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P1334P(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGGTTTGTCCGCCAACATTAA	0.408																																						ENST00000265990.6																			1	Substitution - coding silent(1)	p.P1334P(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(4000-4002)ccG>ccA		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							115.0	103.0	107.0					10																	93768864		2203	4300	6503	SO:0001819	synonymous_variant	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93768864G>A	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.4002G>A	10.37:g.93768864G>A						BTAF1_ENST00000544642.1_Silent_p.P162P	p.P1334P	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			28	4310	+		Colorectal(252;0.0846)	1334			Helicase ATP-binding.		B4E0W6|O43578	Silent	SNP	ENST00000265990.6	37	c.4002G>A	CCDS7419.1																																																																																				0.408	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		21	47	0	0	0	1	0	21	47				
B3GALT5	10317	broad.mit.edu	37	21	41033216	41033216	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr21:41033216G>A	ENST00000380620.4	+	5	1322	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	B3GALT5_ENST00000398714.2_Missense_Mutation_p.V244M|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.V244M|B3GALT5_ENST00000380618.1_Missense_Mutation_p.V244M			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	244					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				ACTGGAAGACGTGTTTGTGGG	0.557																																						ENST00000380620.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16						c.(730-732)Gtg>Atg		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5							93.0	93.0	93.0					21																	41033216		2203	4300	6503	SO:0001583	missense	10317				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr21:41033216G>A	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.730G>A	21.37:g.41033216G>A	ENSP00000369994:p.Val244Met					B3GALT5_ENST00000380618.1_Missense_Mutation_p.V244M|B3GALT5_ENST00000398714.2_Missense_Mutation_p.V244M|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.V244M	p.V244M			Q9Y2C3	B3GT5_HUMAN			5	1322	+		Prostate(19;2.55e-06)	244					A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	c.730G>A	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826611	0.71143	.	.	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	5.64	5.64	0.86602	.	0.000000	0.52532	D	0.000076	D	0.94578	0.8253	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95303	0.8405	10	0.87932	D	0	.	19.7174	0.96129	0.0:0.0:1.0:0.0	.	244	Q9Y2C3	B3GT5_HUMAN	M	244	ENSP00000369994:V244M;ENSP00000369992:V244M;ENSP00000343318:V244M;ENSP00000381699:V244M	ENSP00000343318:V244M	V	+	1	0	B3GALT5	39955086	1.000000	0.71417	0.661000	0.29709	0.137000	0.21094	9.661000	0.98601	2.653000	0.90120	0.655000	0.94253	GTG		0.557	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		26	56	0	0	0	1	0	26	56				
SLC16A7	9194	broad.mit.edu	37	12	60098741	60098741	+	Silent	SNP	T	T	C	rs376184979		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:60098741T>C	ENST00000261187.4	+	2	323	c.159T>C	c.(157-159)acT>acC	p.T53T	SLC16A7_ENST00000552024.1_Silent_p.T53T|SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000549588.1_3'UTR|SLC16A7_ENST00000549465.1_Silent_p.T53T|SLC16A7_ENST00000547379.1_Silent_p.T53T|SLC16A7_ENST00000552432.1_Silent_p.T53T	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	53					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TATTCCACACTACCTACAGTG	0.383																																						ENST00000261187.4																			0				endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30						c.(157-159)acT>acC		solute carrier family 16 (monocarboxylate transporter), member 7	Pyruvic acid(DB00119)						110.0	104.0	106.0					12																	60098741		2203	4300	6503	SO:0001819	synonymous_variant	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60098741T>C	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.159T>C	12.37:g.60098741T>C						SLC16A7_ENST00000549465.1_Silent_p.T53T|SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000547379.1_Silent_p.T53T|SLC16A7_ENST00000552432.1_Silent_p.T53T|SLC16A7_ENST00000552024.1_Silent_p.T53T|SLC16A7_ENST00000549588.1_3'UTR	p.T53T	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	2	323	+			53					Q8NEM3|Q9UPB3	Silent	SNP	ENST00000261187.4	37	c.159T>C	CCDS8961.1																																																																																				0.383	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		24	46	0	0	0	1	0	24	46				
KLHL36	79786	broad.mit.edu	37	16	84690912	84690912	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:84690912A>G	ENST00000564996.1	+	3	640	c.499A>G	c.(499-501)Atc>Gtc	p.I167V	KLHL36_ENST00000258157.5_Missense_Mutation_p.I167V	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	167	BACK.				protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGATGCCTTCATCGATGGCTT	0.567																																						ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(499-501)Atc>Gtc		kelch-like family member 36							93.0	76.0	82.0					16																	84690912		2199	4300	6499	SO:0001583	missense	79786							g.chr16:84690912A>G	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.499A>G	16.37:g.84690912A>G	ENSP00000456743:p.Ile167Val					KLHL36_ENST00000258157.5_Missense_Mutation_p.I167V	p.I167V	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			3	640	+			167			BACK.		Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	c.499A>G	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	A	0.431	-0.903431	0.02453	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.67523	-0.27	5.66	2.23	0.28157	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	N	0.24115	0.695	0.53688	D	0.999977	B;B	0.15930	0.015;0.0	B;B	0.16289	0.015;0.006	T	0.11591	-1.0581	10	0.19147	T	0.46	.	6.3315	0.21272	0.7258:0.134:0.1401:0.0	.	167;167	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	V	167	ENSP00000258157:I167V	ENSP00000258157:I167V	I	+	1	0	KLHL36	83248413	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	2.081000	0.41596	0.101000	0.17610	-0.371000	0.07208	ATC		0.567	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			8	49	0	0	0	1	0	8	49				
SCARF1	8578	broad.mit.edu	37	17	1543259	1543259	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:1543259G>T	ENST00000263071.4	-	6	1135	c.1086C>A	c.(1084-1086)tcC>tcA	p.S362S	SCARF1_ENST00000574545.1_5'Flank|SCARF1_ENST00000571272.1_Silent_p.S362S|SCARF1_ENST00000348987.3_Intron	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	362	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGTATCACAGGACCCCTGAA	0.642																																						ENST00000263071.4																			0				cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1084-1086)tcC>tcA		scavenger receptor class F, member 1							70.0	72.0	71.0					17																	1543259		2203	4300	6503	SO:0001819	synonymous_variant	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1543259G>T	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1086C>A	17.37:g.1543259G>T						SCARF1_ENST00000571272.1_Silent_p.S362S|SCARF1_ENST00000348987.3_Intron	p.S362S	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	6	1135	-			362			EGF-like 6.		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Silent	SNP	ENST00000263071.4	37	c.1086C>A	CCDS11007.1																																																																																				0.642	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		7	35	1	0	2.7689e-08	1	2.91162e-08	7	35				
PLEKHM1	9842	broad.mit.edu	37	17	43515294	43515294	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:43515294G>A	ENST00000430334.3	-	12	3234	c.3101C>T	c.(3100-3102)gCt>gTt	p.A1034V	PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A945V	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	1034					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CTTCACCACAGCCTGGCAGCT	0.647																																						ENST00000430334.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(3100-3102)gCt>gTt		pleckstrin homology domain containing, family M (with RUN domain) member 1							52.0	51.0	51.0					17																	43515294		2203	4300	6503	SO:0001583	missense	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43515294G>A	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.3101C>T	17.37:g.43515294G>A	ENSP00000389913:p.Ala1034Val					PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A945V	p.A1034V	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN			12	3234	-	Renal(3;0.0405)		1034					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	c.3101C>T	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059471	0.76074	.	.	ENSG00000225190	ENST00000430334;ENST00000421073	T;T	0.64991	-0.12;-0.13	4.67	3.68	0.42216	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.355818	0.27705	N	0.018189	T	0.51058	0.1652	L	0.42245	1.32	0.41243	D	0.986654	P;P	0.38223	0.57;0.623	B;B	0.35550	0.197;0.205	T	0.49872	-0.8893	10	0.32370	T	0.25	.	12.0837	0.53686	0.0:0.0:0.8274:0.1726	.	945;1034	F8W648;Q9Y4G2	.;PKHM1_HUMAN	V	1034;945	ENSP00000389913:A1034V;ENSP00000414352:A945V	ENSP00000414352:A945V	A	-	2	0	PLEKHM1	40871077	0.216000	0.23585	0.979000	0.43373	0.992000	0.81027	3.071000	0.50041	1.159000	0.42565	0.558000	0.71614	GCT		0.647	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		4	22	0	0	0	1	0	4	22				
UNC5D	137970	broad.mit.edu	37	8	35425622	35425622	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:35425622A>G	ENST00000404895.2	+	3	657	c.329A>G	c.(328-330)aAg>aGg	p.K110R	UNC5D_ENST00000453357.2_Missense_Mutation_p.K105R|UNC5D_ENST00000416672.1_Missense_Mutation_p.K110R|UNC5D_ENST00000287272.2_Missense_Mutation_p.K110R|UNC5D_ENST00000420357.1_Missense_Mutation_p.K110R	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	110	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCAGGTTTGAAGGTCCGCGAA	0.463																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(328-330)aAg>aGg		unc-5 homolog D (C. elegans)							163.0	166.0	165.0					8																	35425622		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35425622A>G	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.329A>G	8.37:g.35425622A>G	ENSP00000385143:p.Lys110Arg					UNC5D_ENST00000453357.2_Missense_Mutation_p.K105R|UNC5D_ENST00000404895.2_Missense_Mutation_p.K110R|UNC5D_ENST00000420357.1_Missense_Mutation_p.K110R|UNC5D_ENST00000416672.1_Missense_Mutation_p.K110R	p.K110R			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	3	349	+			110			Ig-like.		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.329A>G	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	A	11.21	1.572314	0.28092	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	5.16	5.16	0.70880	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	N	0.03050	-0.425	0.80722	D	1	D;D	0.71674	0.998;0.993	D;P	0.77557	0.99;0.866	T	0.27123	-1.0083	10	0.09084	T	0.74	-23.6189	15.2986	0.73928	1.0:0.0:0.0:0.0	.	105;110	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	R	110;110;110;110;105	ENSP00000385143:K110R;ENSP00000392739:K110R;ENSP00000287272:K110R;ENSP00000412652:K110R;ENSP00000394303:K105R	ENSP00000287272:K110R	K	+	2	0	UNC5D	35545164	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	3.358000	0.52284	2.070000	0.61991	0.533000	0.62120	AAG		0.463	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			11	131	0	0	0	1	0	11	131				
MAN2C1	4123	broad.mit.edu	37	15	75655014	75655014	+	Missense_Mutation	SNP	C	C	T	rs149884810		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:75655014C>T	ENST00000267978.5	-	7	912	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	MAN2C1_ENST00000565683.1_Missense_Mutation_p.R289Q|MAN2C1_ENST00000563539.1_5'Flank|MAN2C1_ENST00000563622.1_Intron|MAN2C1_ENST00000569482.1_Missense_Mutation_p.R289Q	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	289					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CTCAGGGTTCCGCTCCATGAG	0.622																																						ENST00000565683.1																			0				central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(865-867)cGg>cAg		mannosidase, alpha, class 2C, member 1		C	GLN/ARG	0,4394		0,0,2197	67.0	68.0	68.0		866	-10.9	0.0	15	dbSNP_134	68	2,8586	2.2+/-6.3	0,2,4292	no	missense	MAN2C1	NM_006715.2	43	0,2,6489	TT,TC,CC		0.0233,0.0,0.0154	benign	289/1041	75655014	2,12980	2197	4294	6491	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75655014C>T	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.866G>A	15.37:g.75655014C>T	ENSP00000267978:p.Arg289Gln					MAN2C1_ENST00000267978.5_Missense_Mutation_p.R289Q|MAN2C1_ENST00000569482.1_Missense_Mutation_p.R289Q|MAN2C1_ENST00000563622.1_Intron	p.R289Q	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN			7	877	-			289					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.866G>A	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358650	0.24598	0.0	2.33E-4	ENSG00000140400	ENST00000267978	T	0.79352	-1.26	5.45	-10.9	0.00192	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.734425	0.13173	N	0.408140	T	0.50017	0.1591	N	0.12611	0.24	0.09310	N	1	P;B;B	0.38582	0.638;0.001;0.0	B;B;B	0.32805	0.153;0.003;0.002	T	0.47446	-0.9117	10	0.09843	T	0.71	-6.6637	18.6996	0.91615	0.0:0.1239:0.0:0.8761	.	71;289;289	B4DVP6;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	Q	289	ENSP00000267978:R289Q	ENSP00000267978:R289Q	R	-	2	0	MAN2C1	73442067	0.049000	0.20398	0.008000	0.14137	0.294000	0.27393	-0.301000	0.08232	-2.397000	0.00581	-0.459000	0.05422	CGG		0.622	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			7	19	0	0	0	1	0	7	19				
SLC38A10	124565	broad.mit.edu	37	17	79225307	79225307	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:79225307G>A	ENST00000374759.3	-	14	2434	c.2051C>T	c.(2050-2052)gCc>gTc	p.A684V	SLC38A10_ENST00000288439.5_Missense_Mutation_p.A684V	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	684					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CAGCTGGCTGGCCGCCTGGTT	0.736																																						ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2050-2052)gCc>gTc		solute carrier family 38, member 10							8.0	11.0	10.0					17																	79225307		2152	4229	6381	SO:0001583	missense	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79225307G>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2051C>T	17.37:g.79225307G>A	ENSP00000363891:p.Ala684Val					SLC38A10_ENST00000288439.5_Missense_Mutation_p.A684V	p.A684V	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		14	2434	-	all_neural(118;0.0804)|Melanoma(429;0.242)		684					Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	c.2051C>T	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	G	6.030	0.373844	0.11409	.	.	ENSG00000157637	ENST00000374759;ENST00000540966;ENST00000288439	T;T;T	0.47528	3.05;0.84;2.66	3.49	1.44	0.22558	.	29.907000	0.00166	N	0.000000	T	0.29355	0.0731	N	0.14661	0.345	0.09310	N	1	B;P	0.42827	0.187;0.791	B;B	0.38378	0.025;0.272	T	0.19128	-1.0315	10	0.49607	T	0.09	-15.4747	1.2633	0.02006	0.2052:0.4123:0.2233:0.1592	.	684;684	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	V	684;62;684	ENSP00000363891:A684V;ENSP00000437601:A62V;ENSP00000288439:A684V	ENSP00000288439:A684V	A	-	2	0	SLC38A10	76839902	0.855000	0.29742	0.163000	0.22734	0.057000	0.15508	0.443000	0.21644	0.285000	0.22329	-0.397000	0.06425	GCC		0.736	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		3	12	0	0	0	1	0	3	12				
CENPT	80152	broad.mit.edu	37	16	67865241	67865241	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr16:67865241G>A	ENST00000562787.1	-	10	1129	c.581C>T	c.(580-582)gCc>gTc	p.A194V	CENPT_ENST00000219172.3_Missense_Mutation_p.A194V|CENPT_ENST00000564817.1_Missense_Mutation_p.A194V|CENPT_ENST00000445712.2_Missense_Mutation_p.A91V|CENPT_ENST00000440851.2_Missense_Mutation_p.A194V|CENPT_ENST00000562947.1_5'UTR	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	194	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		AAGAGGTGTGGCAAAGGTCAG	0.617																																						ENST00000562787.1																			0				NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(580-582)gCc>gTc		centromere protein T							50.0	58.0	55.0					16																	67865241		2026	4186	6212	SO:0001583	missense	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67865241G>A	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.581C>T	16.37:g.67865241G>A	ENSP00000457810:p.Ala194Val					CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000219172.3_Missense_Mutation_p.A194V|CENPT_ENST00000564817.1_Missense_Mutation_p.A194V|CENPT_ENST00000445712.2_Missense_Mutation_p.A91V|CENPT_ENST00000440851.2_Missense_Mutation_p.A194V	p.A194V	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	10	1129	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	194					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.581C>T	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707568	0.68615	.	.	ENSG00000102901	ENST00000440851;ENST00000219172;ENST00000445712	T;T;T	0.49720	0.87;0.87;0.77	5.36	3.36	0.38483	.	0.449691	0.21054	N	0.080951	T	0.33933	0.0880	L	0.46741	1.465	0.21020	N	0.999801	B;B;B	0.30146	0.154;0.27;0.154	B;B;B	0.32533	0.048;0.147;0.048	T	0.28870	-1.0030	10	0.02654	T	1	-3.2044	8.0515	0.30581	0.1966:0.0:0.8034:0.0	.	91;194;194	B4DMP9;Q96BT3;B3KPB2	.;CENPT_HUMAN;.	V	194;194;91	ENSP00000400140:A194V;ENSP00000219172:A194V;ENSP00000411594:A91V	ENSP00000219172:A194V	A	-	2	0	CENPT	66422742	0.815000	0.29118	0.990000	0.47175	0.995000	0.86356	1.992000	0.40737	1.256000	0.44068	0.644000	0.83932	GCC		0.617	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		17	28	0	0	0	1	0	17	28				
WBP2NL	164684	broad.mit.edu	37	22	42423017	42423017	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr22:42423017C>A	ENST00000328823.9	+	6	793	c.762C>A	c.(760-762)gcC>gcA	p.A254A	WBP2NL_ENST00000543212.1_Silent_p.A180A	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	254	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						GATATGGAGCCCCACCTCTCG	0.597																																						ENST00000328823.9																			0				breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						c.(760-762)gcC>gcA		WBP2 N-terminal like							134.0	154.0	147.0					22																	42423017		2203	4300	6503	SO:0001819	synonymous_variant	164684				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	g.chr22:42423017C>A	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.762C>A	22.37:g.42423017C>A						WBP2NL_ENST00000543212.1_Silent_p.A180A	p.A254A	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN			6	793	+			254			10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.		A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Silent	SNP	ENST00000328823.9	37	c.762C>A	CCDS14029.1																																																																																				0.597	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		9	187	1	0	0.000673444	1	0.000683495	9	187				
CAPZA1	829	broad.mit.edu	37	1	113197226	113197226	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:113197226G>T	ENST00000263168.3	+	5	1031	c.359G>T	c.(358-360)tGg>tTg	p.W120L	snoU13_ENST00000459345.1_RNA|CAPZA1_ENST00000476936.1_Intron	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	120					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGAAGTCTTGGAGAGAATCC	0.413																																						ENST00000263168.3																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9						c.(358-360)tGg>tTg		capping protein (actin filament) muscle Z-line, alpha 1							158.0	170.0	166.0					1																	113197226		2203	4300	6503	SO:0001583	missense	829				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding	g.chr1:113197226G>T	U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.359G>T	1.37:g.113197226G>T	ENSP00000263168:p.Trp120Leu					CAPZA1_ENST00000476936.1_Intron	p.W120L	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1031	+	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	120					Q53FQ6|Q6FHD5	Missense_Mutation	SNP	ENST00000263168.3	37	c.359G>T	CCDS30805.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043982	0.55110	.	.	ENSG00000116489	ENST00000263168	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.26810	0.0656	N	0.25332	0.735	0.80722	D	1	B	0.22746	0.074	B	0.25506	0.061	T	0.17592	-1.0364	9	0.06757	T	0.87	-8.4697	17.4837	0.87682	0.0:0.0:1.0:0.0	.	120	P52907	CAZA1_HUMAN	L	120	.	ENSP00000263168:W120L	W	+	2	0	CAPZA1	112998749	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.655000	0.98512	2.526000	0.85167	0.585000	0.79938	TGG		0.413	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032567.2	NM_006135		9	91	1	0	2.17888e-05	1	2.2449e-05	9	91				
NEURL4	84461	broad.mit.edu	37	17	7224437	7224437	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:7224437G>A	ENST00000399464.2	-	20	3369	c.3354C>T	c.(3352-3354)ggC>ggT	p.G1118G	NEURL4_ENST00000574120.1_5'Flank|NEURL4_ENST00000570460.1_Silent_p.G1094G|RP11-542C16.2_ENST00000575474.1_5'Flank|NEURL4_ENST00000315614.7_Silent_p.G1116G	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1118						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTACTCCCAGGCCATGCTCCT	0.612																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3352-3354)ggC>ggT		neuralized E3 ubiquitin protein ligase 4							62.0	65.0	64.0					17																	7224437		2192	4284	6476	SO:0001819	synonymous_variant	84461							g.chr17:7224437G>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.3354C>T	17.37:g.7224437G>A						NEURL4_ENST00000315614.7_Silent_p.G1116G|NEURL4_ENST00000570460.1_Silent_p.G1094G	p.G1118G	NM_032442.2	NP_115818.2					20	3369	-								Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	ENST00000399464.2	37	c.3354C>T	CCDS42251.1																																																																																				0.612	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		4	45	0	0	0	1	0	4	45				
EPPK1	83481	broad.mit.edu	37	8	144940628	144940628	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:144940628G>A	ENST00000525985.1	-	2	6865	c.6794C>T	c.(6793-6795)gCg>gTg	p.A2265V				P58107	EPIPL_HUMAN	epiplakin 1	2265						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCGCCTGCGCCTCCAGCAG	0.726																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6793-6795)gCg>gTg		epiplakin 1							37.0	37.0	37.0					8																	144940628		2147	4244	6391	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940628G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6794C>T	8.37:g.144940628G>A	ENSP00000436337:p.Ala2265Val						p.A2265V			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6865	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2265					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6794C>T		.	.	.	.	.	.	.	.	.	.	G	25.2	4.609217	0.87258	.	.	ENSG00000227184	ENST00000525985	T	0.77620	-1.11	4.67	4.67	0.58626	.	.	.	.	.	D	0.90242	0.6949	M	0.93150	3.385	0.51012	D	0.999902	D	0.89917	1.0	D	0.97110	1.0	D	0.90633	0.4568	9	0.33940	T	0.23	.	15.1226	0.72457	0.0:0.0:1.0:0.0	.	2265	E9PPU0	.	V	2265	ENSP00000436337:A2265V	ENSP00000436337:A2265V	A	-	2	0	EPPK1	145012616	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.583000	0.98217	2.420000	0.82092	0.591000	0.81541	GCG		0.726	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		6	86	0	0	0	1	0	6	86				
DNHD1	144132	broad.mit.edu	37	11	6592024	6592024	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:6592024T>A	ENST00000527990.2	+	40	13282	c.13282T>A	c.(13282-13284)Tct>Act	p.S4428T	DNHD1_ENST00000254579.6_Missense_Mutation_p.S4428T			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4428					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGTTCCTGAGTCTCGAAGAGG	0.637																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(13282-13284)Tct>Act		dynein heavy chain domain 1							25.0	30.0	28.0					11																	6592024		2088	4205	6293	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6592024T>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13282T>A	11.37:g.6592024T>A	ENSP00000436180:p.Ser4428Thr					DNHD1_ENST00000527990.2_Missense_Mutation_p.S4428T	p.S4428T	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	42	13846	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4428					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.13282T>A	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.699492	0.30142	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.27720	1.65;1.65	4.78	-4.76	0.03229	Dynein heavy chain (1);	1.097160	0.07008	N	0.824551	T	0.08537	0.0212	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.21861	-1.0233	10	0.22109	T	0.4	1.4957	1.5231	0.02520	0.2406:0.365:0.2306:0.1638	.	3516;480;4428	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	T	4428;4428;696	ENSP00000254579:S4428T;ENSP00000436180:S4428T	ENSP00000254579:S4428T	S	+	1	0	DNHD1	6548600	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.084000	0.14891	-0.924000	0.03780	-1.845000	0.00574	TCT		0.637	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		12	18	0	0	0	1	0	12	18				
TCEB3	6924	broad.mit.edu	37	1	24078404	24078404	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:24078404delA	ENST00000418390.2	+	4	1658	c.1387delA	c.(1387-1389)aaafs	p.K464fs	TCEB3_ENST00000609199.1_Frame_Shift_Del_p.K438fs	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	464					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.N439fs*19(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TAAAGGACTTAAAAAAAATGA	0.413											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000418390.2																			1	Deletion - Frameshift(1)	p.N439fs*19(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(1387-1389)aafs		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)							70.0	83.0	79.0					1																	24078404		2195	4299	6494	SO:0001589	frameshift_variant	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24078404delA	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1387delA	1.37:g.24078404delA	ENSP00000395574:p.Lys464fs		OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768		p.K464fs	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	4	1658	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	464					B2R7Q8|Q8IXH1	Frame_Shift_Del	DEL	ENST00000418390.2	37	c.1387delA	CCDS239.2																																																																																				0.413	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		19	103						19	103	---	---	---	---
DNAJB4	11080	broad.mit.edu	37	1	78479135	78479136	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:78479135_78479136insA	ENST00000370763.5	+	2	869_870	c.612_613insA	c.(613-615)aaafs	p.K205fs	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	205					protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CCATTGAGATTAAAAAAGGGTG	0.356																																						ENST00000370763.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(610-615)ataaaafs		DnaJ (Hsp40) homolog, subfamily B, member 4																																				SO:0001589	frameshift_variant	11080				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr1:78479135_78479136insA	U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"""Heat shock proteins / DNAJ (HSP40)"""	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.618dupA	1.37:g.78479141_78479141dupA	ENSP00000359799:p.Lys205fs					DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron	p.IK204fs	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN			2	869_870	+			204					B2R824|Q13431	Frame_Shift_Ins	INS	ENST00000370763.5	37	c.612_613insA	CCDS684.1																																																																																				0.356	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3			26	75						26	75	---	---	---	---
DNASE2B	58511	broad.mit.edu	37	1	84880400	84880400	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:84880400delA	ENST00000370665.3	+	6	968	c.935delA	c.(934-936)caafs	p.Q312fs	DNASE2B_ENST00000370662.3_Frame_Shift_Del_p.Q104fs	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	312					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TGTATTTCCCAAAAGGGCACC	0.408																																					Pancreas(54;788 1175 11852 16034 30034)	ENST00000370665.3																			0				endometrium(1)|lung(4)|skin(1)	6						c.(934-936)cafs		deoxyribonuclease II beta							57.0	55.0	55.0					1																	84880400		2203	4300	6503	SO:0001589	frameshift_variant	58511				DNA metabolic process	lysosome	deoxyribonuclease II activity	g.chr1:84880400delA	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.935delA	1.37:g.84880400delA	ENSP00000359699:p.Gln312fs					DNASE2B_ENST00000370662.3_Frame_Shift_Del_p.Q104fs	p.Q312fs	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN		all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)	6	968	+			312					Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Frame_Shift_Del	DEL	ENST00000370665.3	37	c.935delA	CCDS44167.1																																																																																				0.408	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		19	32						19	32	---	---	---	---
LMNA	4000	broad.mit.edu	37	1	156104218	156104218	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:156104218delA	ENST00000368300.4	+	3	750	c.538delA	c.(538-540)aagfs	p.K181fs	LMNA_ENST00000368297.1_Frame_Shift_Del_p.K100fs|LMNA_ENST00000368299.3_Frame_Shift_Del_p.K181fs|LMNA_ENST00000368301.2_Frame_Shift_Del_p.K181fs|LMNA_ENST00000392353.3_Frame_Shift_Del_p.K100fs|LMNA_ENST00000361308.4_Frame_Shift_Del_p.K181fs|LMNA_ENST00000347559.2_Frame_Shift_Del_p.K181fs|LMNA_ENST00000448611.2_Frame_Shift_Del_p.K69fs|LMNA_ENST00000473598.2_Frame_Shift_Del_p.K82fs	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	181	Coil 1B.|Rod.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					AGGTGAGGCCAAGAAGCAACT	0.542									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																													ENST00000368300.4																			0				NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10						c.(538-540)agfs		lamin A/C							68.0	63.0	64.0					1																	156104218		2203	4300	6503	SO:0001589	frameshift_variant	4000	Werner syndrome;Hutchinson-Gilford Progeria Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr1:156104218delA	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.538delA	1.37:g.156104218delA	ENSP00000357283:p.Lys181fs					LMNA_ENST00000368297.1_Frame_Shift_Del_p.K100fs|LMNA_ENST00000368299.3_Frame_Shift_Del_p.K181fs|LMNA_ENST00000448611.2_Frame_Shift_Del_p.K69fs|LMNA_ENST00000347559.2_Frame_Shift_Del_p.K181fs|LMNA_ENST00000392353.3_Frame_Shift_Del_p.K100fs|LMNA_ENST00000368301.2_Frame_Shift_Del_p.K181fs|LMNA_ENST00000473598.2_Frame_Shift_Del_p.K82fs|LMNA_ENST00000361308.4_Frame_Shift_Del_p.K181fs	p.K181fs	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN			3	750	+	Hepatocellular(266;0.158)		181			Coil 1B.|Rod.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Frame_Shift_Del	DEL	ENST00000368300.4	37	c.538delA	CCDS1129.1																																																																																				0.542	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		15	33						15	33	---	---	---	---
PGBD2	267002	broad.mit.edu	37	1	249211828	249211828	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:249211828delT	ENST00000329291.5	+	3	1192	c.1045delT	c.(1045-1047)tttfs	p.F350fs	PGBD2_ENST00000355360.4_Frame_Shift_Del_p.F99fs|PGBD2_ENST00000539153.1_Frame_Shift_Del_p.F347fs	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	350										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATATCACATATTTTTTGACAA	0.438																																						ENST00000355360.4																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(292-294)ttfs		piggyBac transposable element derived 2							112.0	116.0	115.0					1																	249211828		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr1:249211828delT	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1045delT	1.37:g.249211828delT	ENSP00000331643:p.Phe350fs					PGBD2_ENST00000539153.1_Frame_Shift_Del_p.F347fs|PGBD2_ENST00000329291.5_Frame_Shift_Del_p.F350fs	p.F99fs	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	562	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	350					B3KVR8|Q6MZF8	Frame_Shift_Del	DEL	ENST00000329291.5	37	c.292delT	CCDS31128.1																																																																																				0.438	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			7	144						7	144	---	---	---	---
MSH2	4436	broad.mit.edu	37	2	47693894	47693895	+	Frame_Shift_Ins	INS	-	-	A	rs63750510		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:47693894_47693895insA	ENST00000233146.2	+	10	1831_1832	c.1608_1609insA	c.(1609-1611)aaafs	p.K537fs	MSH2_ENST00000406134.1_Frame_Shift_Ins_p.K537fs|MSH2_ENST00000543555.1_Frame_Shift_Ins_p.K471fs	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	537					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCGTAACAATAAAAACTTTAG	0.342			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406134.1			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"""D, Mis, N, F, S"""	mutS homolog 2 (E. coli)			E		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		4	Whole gene deletion(2)|Unknown(2)	p.0?(2)|p.?(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112						c.(1606-1611)aaaaaafs	Mismatch excision repair (MMR)	mutS homolog 2																																				SO:0001589	frameshift_variant	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47693894_47693895insA	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1613dupA	2.37:g.47693899_47693899dupA	ENSP00000233146:p.Lys537fs					MSH2_ENST00000543555.1_Frame_Shift_Ins_p.KK470fs|MSH2_ENST00000233146.2_Frame_Shift_Ins_p.KK536fs	p.KK536fs			P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1670_1671	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	536					B4E2Z2|O75488	Frame_Shift_Ins	INS	ENST00000233146.2	37	c.1608_1609insA	CCDS1834.1																																																																																				0.342	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			22	40						22	40	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103149137	103149137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:103149137delA	ENST00000295269.4	+	12	2844	c.2387delA	c.(2386-2388)caafs	p.Q796fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	796					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTTGCTCCAAAAAAAATAG	0.473																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2386-2388)cafs		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							43.0	37.0	39.0					2																	103149137		2203	4300	6503	SO:0001589	frameshift_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103149137delA		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2387delA	2.37:g.103149137delA	ENSP00000295269:p.Gln796fs						p.Q796fs	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			12	2844	+			796					Q69YK0	Frame_Shift_Del	DEL	ENST00000295269.4	37	c.2387delA	CCDS33264.1																																																																																				0.473	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		11	46						11	46	---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10429962	10429962	+	Splice_Site	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:10429962delT	ENST00000352432.4	-	5	975	c.906delA	c.(904-906)aaa>aa	p.K302fs	ATP2B2_ENST00000397077.1_Splice_Site_p.K302fs|ATP2B2_ENST00000383800.4_Splice_Site_p.K302fs|ATP2B2_ENST00000343816.4_Splice_Site_p.K302fs|ATP2B2_ENST00000360273.2_Splice_Site_p.K302fs			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	302					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.A303fs*56(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TAGGCTTACCTTTTTTGTCTT	0.453																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			1	Deletion - Frameshift(1)	p.A303fs*56(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.e8+1		ATPase, Ca++ transporting, plasma membrane 2							283.0	257.0	266.0					3																	10429962		2203	4300	6503	SO:0001630	splice_region_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10429962delT	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.907+1A>-	3.37:g.10429962delT						ATP2B2_ENST00000352432.4_Splice_Site_p.K302_splice|ATP2B2_ENST00000343816.4_Splice_Site_p.K302_splice|ATP2B2_ENST00000383800.4_Splice_Site_p.K302_splice|ATP2B2_ENST00000360273.2_Splice_Site_p.K302_splice	p.K302_splice			Q01814	AT2B2_HUMAN			8	1481	-			302					O00766|Q12994|Q16818	Splice_Site	DEL	ENST00000352432.4	37	c.907_splice	CCDS33701.1																																																																																				0.453	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	Frame_Shift_Del	48	94						48	94	---	---	---	---
TOP2B	7155	broad.mit.edu	37	3	25674067	25674067	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:25674067delT	ENST00000264331.4	-	10	1135	c.1136delA	c.(1135-1137)aacfs	p.N379fs	TOP2B_ENST00000435706.2_Frame_Shift_Del_p.N374fs	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	379					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CCATATATGGTTTTTTACCTG	0.299																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(1120-1122)acfs		topoisomerase (DNA) II beta 180kDa							38.0	36.0	37.0					3																	25674067		1785	4053	5838	SO:0001589	frameshift_variant	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25674067delT	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1136delA	3.37:g.25674067delT	ENSP00000264331:p.Asn379fs					TOP2B_ENST00000264331.4_Frame_Shift_Del_p.N379fs	p.N374fs			Q02880	TOP2B_HUMAN			10	1322	-			379					Q13600|Q9UMG8|Q9UQP8	Frame_Shift_Del	DEL	ENST00000264331.4	37	c.1121delA																																																																																					0.299	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				14	21						14	21	---	---	---	---
ACAA1	30	broad.mit.edu	37	3	38167143	38167143	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:38167143delC	ENST00000333167.8	-	11	1284	c.1112delG	c.(1111-1113)ggtfs	p.G371fs	Y_RNA_ENST00000365095.1_RNA|ACAA1_ENST00000301810.7_Frame_Shift_Del_p.G278fs|ACAA1_ENST00000450296.1_Frame_Shift_Del_p.G330fs|ACAA1_ENST00000480865.1_5'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	371					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GGCCACTGCACCCCCCAGGGG	0.607																																						ENST00000333167.8																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9						c.(1111-1113)gtfs		acetyl-CoA acyltransferase 1							56.0	55.0	55.0					3																	38167143		2203	4300	6503	SO:0001589	frameshift_variant	30				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	g.chr3:38167143delC	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.1112delG	3.37:g.38167143delC	ENSP00000333664:p.Gly371fs					ACAA1_ENST00000450296.1_Frame_Shift_Del_p.G330fs|ACAA1_ENST00000301810.7_Frame_Shift_Del_p.G278fs|ACAA1_ENST00000480865.1_5'UTR	p.G371fs	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)	11	1284	-			371					G5E935|Q96CA6	Frame_Shift_Del	DEL	ENST00000333167.8	37	c.1112delG	CCDS2673.1																																																																																				0.607	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		24	60						24	60	---	---	---	---
ANO10	55129	broad.mit.edu	37	3	43647213	43647213	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:43647213delT	ENST00000292246.3	-	2	302	c.132delA	c.(130-132)aaafs	p.K44fs	ANO10_ENST00000396091.3_Frame_Shift_Del_p.K44fs|ANO10_ENST00000451430.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000350459.4_Frame_Shift_Del_p.K44fs|ANO10_ENST00000414522.2_Frame_Shift_Del_p.K44fs	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	44					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CACCTCCATCTTTTTTTTTAG	0.408																																						ENST00000292246.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						c.(130-132)aafs		anoctamin 10							142.0	128.0	133.0					3																	43647213		2203	4300	6503	SO:0001589	frameshift_variant	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43647213delT	AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.132delA	3.37:g.43647213delT	ENSP00000292246:p.Lys44fs					ANO10_ENST00000451430.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000414522.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000396091.3_Frame_Shift_Del_p.K44fs|ANO10_ENST00000350459.4_Frame_Shift_Del_p.K44fs	p.K44fs	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN			2	302	-			44					A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Frame_Shift_Del	DEL	ENST00000292246.3	37	c.132delA	CCDS2710.2																																																																																				0.408	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		18	33						18	33	---	---	---	---
LPP	4026	broad.mit.edu	37	3	188327517	188327519	+	In_Frame_Del	DEL	CTC	CTC	-	rs369623619		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:188327517_188327519delCTC	ENST00000312675.4	+	6	1244_1246	c.998_1000delCTC	c.(997-1002)actcct>act	p.P335del	LPP_ENST00000448637.1_In_Frame_Del_p.P335del|LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_In_Frame_Del_p.P335del	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	335	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCAGGGTACACTCCTCCTGGAGC	0.552			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	"""HMGA2, MLL, C12orf9"""		"""lipoma, leukemia"""	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(997-1002)act>a		LIM domain containing preferred translocation partner in lipoma																																				SO:0001651	inframe_deletion	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188327517_188327519delCTC	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.998_1000delCTC	3.37:g.188327520_188327522delCTC	ENSP00000318089:p.Pro335del					LPP_ENST00000543006.1_In_Frame_Del_p.TP333del|LPP_ENST00000448637.1_In_Frame_Del_p.TP333del|LPP_ENST00000471917.1_3'UTR	p.TP333del	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	6	1244_1246	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	333			Pro-rich.		A1L4L6|D3DNV6|Q8NFX5	In_Frame_Del	DEL	ENST00000312675.4	37	c.998_1000delCTC	CCDS3291.1																																																																																				0.552	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		17	66						17	66	---	---	---	---
GP5	2814	broad.mit.edu	37	3	194117340	194117341	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:194117340_194117341delCT	ENST00000401815.1	-	1	1742_1743	c.1671_1672delAG	c.(1669-1674)agagccfs	p.RA557fs	GP5_ENST00000323007.3_Frame_Shift_Del_p.RA557fs			P40197	GPV_HUMAN	glycoprotein V (platelet)	557					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TACCCAAGGGCTCTCTCTCTGA	0.446																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1669-1674)agccfs		glycoprotein V (platelet)																																				SO:0001589	frameshift_variant	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194117340_194117341delCT	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.1671_1672delAG	3.37:g.194117348_194117349delCT	ENSP00000383931:p.Arg557fs					GP5_ENST00000323007.3_Frame_Shift_Del_p.RA557fs	p.RA557fs			P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	1742_1743	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	557					D1MER9	Frame_Shift_Del	DEL	ENST00000401815.1	37	c.1671_1672delAG	CCDS3307.1																																																																																				0.446	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		7	198						7	198	---	---	---	---
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815897	+	lincRNA	DEL	AAA	AAA	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:19815895_19815897delAAA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaaaa	0.409																																						ENST00000511431.1																			0																																																			0							g.chr4:19815895_19815897delAAA																													4.37:g.19815904_19815906delAAA														0	288	+									RNA	DEL	ENST00000511431.1	37																																																																																						0.409	RP11-608O21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359397.1			2	4						2	4	---	---	---	---
KIF2A	3796	broad.mit.edu	37	5	61677057	61677057	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:61677057delT	ENST00000401507.3	+	19	2323	c.2012delT	c.(2011-2013)atafs	p.I671fs	KIF2A_ENST00000407818.3_Frame_Shift_Del_p.I709fs|KIF2A_ENST00000506857.1_Frame_Shift_Del_p.I625fs|KIF2A_ENST00000381103.2_Frame_Shift_Del_p.I651fs|KIF2A_ENST00000509663.2_Intron	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	671					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		GAGCAAAAAATAGACATTTTA	0.348																																						ENST00000381103.2																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15						c.(1951-1953)aafs		kinesin heavy chain member 2A							179.0	195.0	190.0					5																	61677057		2203	4300	6503	SO:0001589	frameshift_variant	3796				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding	g.chr5:61677057delT	BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.2012delT	5.37:g.61677057delT	ENSP00000385622:p.Ile671fs					KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Frame_Shift_Del_p.I709fs|KIF2A_ENST00000401507.3_Frame_Shift_Del_p.I671fs|KIF2A_ENST00000506857.1_Frame_Shift_Del_p.I625fs	p.I651fs	NM_001243952.1	NP_001230881.1	O00139	KIF2A_HUMAN		Lung(70;0.14)	20	2437	+		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)	671					A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Frame_Shift_Del	DEL	ENST00000401507.3	37	c.1952delT	CCDS3980.2																																																																																				0.348	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520		49	101						49	101	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89979676	89979677	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:89979676_89979677insT	ENST00000405460.2	+	28	6034_6035	c.5938_5939insT	c.(5938-5940)attfs	p.I1980fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1980	Calx-beta 14. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S1982fs*2(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGATATTCATTTTTTCTGAG	0.401																																						ENST00000405460.2																			1	Insertion - Frameshift(1)	p.S1982fs*2(1)	large_intestine(1)	NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(5938-5940)tttfs		G protein-coupled receptor 98																																				SO:0001589	frameshift_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89979676_89979677insT	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5944dupT	5.37:g.89979682_89979682dupT	ENSP00000384582:p.Ile1980fs						p.F1980fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	28	6034_6035	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1980					O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Ins	INS	ENST00000405460.2	37	c.5938_5939insT	CCDS47246.1																																																																																				0.401	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		15	23						15	23	---	---	---	---
SRFBP1	153443	broad.mit.edu	37	5	121356129	121356130	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:121356129_121356130insA	ENST00000339397.4	+	6	771_772	c.699_700insA	c.(700-702)aaafs	p.K234fs		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TAAGTCAAACCAAAAAAAACAA	0.401																																						ENST00000339397.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15						c.(697-702)acaaaafs		serum response factor binding protein 1																																				SO:0001589	frameshift_variant	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121356129_121356130insA	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.707dupA	5.37:g.121356137_121356137dupA	ENSP00000341324:p.Lys234fs						p.TK233fs	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	6	771_772	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	233						Frame_Shift_Ins	INS	ENST00000339397.4	37	c.699_700insA	CCDS43354.1																																																																																				0.401	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		26	71						26	71	---	---	---	---
CHSY3	337876	broad.mit.edu	37	5	129241153	129241153	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:129241153delC	ENST00000305031.4	+	1	989	c.631delC	c.(631-633)cccfs	p.P212fs	CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	212	Pro-rich.				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAGCCAGCAGCCCCCCAACGC	0.667																																						ENST00000305031.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(631-633)ccfs		chondroitin sulfate synthase 3							15.0	21.0	19.0					5																	129241153		2184	4265	6449	SO:0001589	frameshift_variant	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129241153delC	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.631delC	5.37:g.129241153delC	ENSP00000302629:p.Pro212fs					CTC-575N7.1_ENST00000515569.1_RNA|CTC-575N7.1_ENST00000503616.1_RNA	p.P212fs	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	1	989	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	212			Pro-rich.		B2RP97|Q76L22|Q86Y52	Frame_Shift_Del	DEL	ENST00000305031.4	37	c.631delC	CCDS34223.1																																																																																				0.667	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		20	17						20	17	---	---	---	---
ADRA1B	147	broad.mit.edu	37	5	159344293	159344293	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:159344293delG	ENST00000306675.3	+	1	504	c.381delG	c.(379-381)ctgfs	p.L127fs		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	127					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	TGGATGTCCTGTGCTGCACAG	0.622																																						ENST00000306675.3																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(379-381)ctfs		adrenoceptor alpha 1B	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)						101.0	87.0	92.0					5																	159344293		2203	4300	6503	SO:0001589	frameshift_variant	147				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr5:159344293delG	L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.381delG	5.37:g.159344293delG	ENSP00000306662:p.Leu127fs						p.L127fs	NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	504	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	127					B0LPE1	Frame_Shift_Del	DEL	ENST00000306675.3	37	c.381delG	CCDS4347.1																																																																																				0.622	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1			32	38						32	38	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26428210	26428210	+	RNA	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:26428210delA	ENST00000466808.2	+	0	1179							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											CTCCAAAAGGAAAAAAAAGAT	0.413																																						ENST00000466808.2																			0																				96.0	92.0	93.0					6																	26428210		2203	4300	6503			0							g.chr6:26428210delA	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26428210delA														0	1179	+								A6NEF4	RNA	DEL	ENST00000466808.2	37																																																																																						0.413	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		33	55						33	55	---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A	rs145334816		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4549-4551)aaafs		tudor domain containing 6																																				SO:0001589	frameshift_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660414_46660415insA	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs					TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4803_4804	+			1517					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	ENST00000316081.6	37	c.4549_4550insA	CCDS34470.1																																																																																				0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		8	90						8	90	---	---	---	---
TCP1	6950	broad.mit.edu	37	6	160209177	160209178	+	Splice_Site	DEL	TG	TG	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:160209177_160209178delTG	ENST00000321394.7	-	2	345		c.e2-2		SNORA29_ENST00000384183.1_RNA|TCP1_ENST00000420894.2_Splice_Site|MRPL18_ENST00000367034.4_5'Flank|TCP1_ENST00000546023.1_5'Flank|TCP1_ENST00000392168.2_Intron|TCP1_ENST00000544255.1_Intron	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1						'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)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CAGCCATAACTGTAGACAATCA	0.371																																						ENST00000321394.7																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10						c.e2-2		t-complex 1																																				SO:0001630	splice_region_variant	6950				'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding	g.chr6:160209177_160209178delTG	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.65-2CA>-	6.37:g.160209177_160209178delTG						TCP1_ENST00000420894.2_Splice_Site|TCP1_ENST00000392168.2_Intron|TCP1_ENST00000544255.1_Intron		NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	2	345	-		Breast(66;1.53e-05)|Ovarian(120;0.024)						E1P5B2|Q15556|Q5TCM3	Splice_Site	DEL	ENST00000321394.7	37		CCDS5269.1																																																																																				0.371	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752	Intron	9	42						9	42	---	---	---	---
NT5C3A	51251	broad.mit.edu	37	7	33061665	33061666	+	Splice_Site	INS	-	-	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:33061665_33061666insT	ENST00000242210.7	-	4	444_445	c.368_369insA	c.(367-369)aag>aaAg	p.K123fs	NT5C3A_ENST00000396152.2_Splice_Site_p.K84fs|NT5C3A_ENST00000610140.1_Splice_Site_p.K118fs|NT5C3A_ENST00000409787.1_Splice_Site_p.K84fs|NT5C3A_ENST00000405342.1_Splice_Site_p.K84fs|NT5C3A_ENST00000381626.2_Splice_Site_p.K72fs|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000409467.1_Splice_Site_p.K72fs	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	123					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.K123K(1)|p.K84K(1)									TAGTGTTTACCTTTTTTCTACA	0.322																																						ENST00000396152.2																			2	Substitution - coding silent(2)	p.K123K(1)|p.K84K(1)	endometrium(2)			GRCh37	CI032516	NT5C3	I		c.e5+1		5'-nucleotidase, cytosolic IIIA																																				SO:0001630	splice_region_variant	51251							g.chr7:33061665_33061666insT	AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"""lupin"""	606224	"""5'-nucleotidase, cytosolic III"""	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.369+1->A	7.37:g.33061671_33061671dupT						NT5C3A_ENST00000405342.1_Splice_Site_p.I84_splice|NT5C3A_ENST00000409467.1_Splice_Site_p.I72_splice|NT5C3A_ENST00000242210.7_Splice_Site_p.I123_splice|NT5C3A_ENST00000381626.2_Splice_Site_p.I72_splice|NT5C3A_ENST00000409787.1_Splice_Site_p.I84_splice|AVL9_ENST00000404479.1_Intron	p.I84_splice	NM_016489.12	NP_057573.2					5	553_554	-								A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Splice_Site	INS	ENST00000242210.7	37	c.252_splice	CCDS34616.1																																																																																				0.322	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1	NM_016489	Frame_Shift_Ins	4	7						4	7	---	---	---	---
GTF2IRD2P1	401375	broad.mit.edu	37	7	72664015	72664016	+	RNA	INS	-	-	G	rs202030378|rs372212945	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:72664015_72664016insG	ENST00000425256.1	-	0	884_885									GTF2I repeat domain containing 2 pseudogene 1																		ATACCACCCCCGGGGCATGCCA	0.505													GGGGG|GGGG|GGGGG|deletion	3786	0.75599	0.7247	0.8242	5008	,	,		6539	0.7212		0.8101	False		,,,				2504	0.7301					ENST00000425256.1																			0																																																			0							g.chr7:72664015_72664016insG	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72664019_72664019dupG								NR_002164.1						0	884_885	-									RNA	INS	ENST00000425256.1	37																																																																																						0.505	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		7	11						7	11	---	---	---	---
DMTF1	9988	broad.mit.edu	37	7	86817443	86817444	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:86817443_86817444insA	ENST00000394703.5	+	15	1800_1801	c.1237_1238insA	c.(1237-1239)caafs	p.Q413fs	DMTF1_ENST00000331242.7_Frame_Shift_Ins_p.Q413fs|DMTF1_ENST00000413276.2_Intron|DMTF1_ENST00000432937.2_Frame_Shift_Ins_p.Q325fs|DMTF1_ENST00000414194.2_Frame_Shift_Ins_p.Q147fs	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	413	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ACATGAGAACCAAAAAAACAAC	0.411																																						ENST00000414194.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(439-441)aaafs		cyclin D binding myb-like transcription factor 1																																				SO:0001589	frameshift_variant	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86817443_86817444insA	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1244dupA	7.37:g.86817450_86817450dupA	ENSP00000378193:p.Gln413fs					DMTF1_ENST00000331242.7_Frame_Shift_Ins_p.K413fs|DMTF1_ENST00000394703.5_Frame_Shift_Ins_p.K413fs|DMTF1_ENST00000432937.2_Frame_Shift_Ins_p.K325fs|DMTF1_ENST00000413276.2_Intron	p.K147fs			Q9Y222	DMTF1_HUMAN			13	2231_2232	+	Esophageal squamous(14;0.0058)		413			Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).|Required for transcriptional activation (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Frame_Shift_Ins	INS	ENST00000394703.5	37	c.439_440insA	CCDS5601.1																																																																																				0.411	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		17	57						17	57	---	---	---	---
RGS22	26166	broad.mit.edu	37	8	101014478	101014478	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:101014478delT	ENST00000360863.6	-	18	2936	c.2742delA	c.(2740-2742)aaafs	p.K914fs	RGS22_ENST00000519421.1_5'Flank|RGS22_ENST00000523287.1_Frame_Shift_Del_p.K733fs|SNORD77_ENST00000391112.1_RNA|RGS22_ENST00000523437.1_Frame_Shift_Del_p.K902fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	914	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CAAAGAAATATTTTTTATTAA	0.343																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(2740-2742)aafs		regulator of G-protein signaling 22							80.0	78.0	79.0					8																	101014478		1794	4061	5855	SO:0001589	frameshift_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101014478delT	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2742delA	8.37:g.101014478delT	ENSP00000354109:p.Lys914fs					RGS22_ENST00000523437.1_Frame_Shift_Del_p.K902fs|RGS22_ENST00000523287.1_Frame_Shift_Del_p.K733fs	p.K914fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		18	2936	-			914			RGS 1.		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Frame_Shift_Del	DEL	ENST00000360863.6	37	c.2742delA	CCDS43758.1																																																																																				0.343	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		20	31						20	31	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103289349	103289349	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:103289349delT	ENST00000520539.1	-	45	6966	c.6360delA	c.(6358-6360)aaafs	p.K2120fs	UBR5_ENST00000521922.1_Frame_Shift_Del_p.K2114fs|UBR5_ENST00000220959.4_Frame_Shift_Del_p.K2120fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2120					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)	p.E2121fs*28(2)		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)			CTTCCCCTTCTTTTTTTTGCC	0.378																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			2	Deletion - Frameshift(2)	p.E2121fs*28(2)	breast(1)|kidney(1)	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.(6358-6360)aafs		ubiquitin protein ligase E3 component n-recognin 5							137.0	130.0	132.0					8																	103289349		2203	4300	6503	SO:0001589	frameshift_variant	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.chr8:103289349delT	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.6360delA	8.37:g.103289349delT	ENSP00000429084:p.Lys2120fs					UBR5_ENST00000521922.1_Frame_Shift_Del_p.K2114fs|UBR5_ENST00000220959.4_Frame_Shift_Del_p.K2120fs	p.K2120fs	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		45	6966	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2120					B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Del	DEL	ENST00000520539.1	37	c.6360delA	CCDS34933.1																																																																																				0.378	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		8	74						8	74	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144941378	144941378	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:144941378delC	ENST00000525985.1	-	2	6115	c.6044delG	c.(6043-6045)ggtfs	p.G2015fs				P58107	EPIPL_HUMAN	epiplakin 1	2015						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCGATGACACCCCCCGTGGC	0.622																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6043-6045)gtfs		epiplakin 1							47.0	52.0	50.0					8																	144941378		2143	4252	6395	SO:0001589	frameshift_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941378delC	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6044delG	8.37:g.144941378delC	ENSP00000436337:p.Gly2015fs						p.G2015fs			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6115	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2015					Q76E58|Q9NSU9	Frame_Shift_Del	DEL	ENST00000525985.1	37	c.6044delG																																																																																					0.622	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		9	22						9	22	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107555161	107555167	+	Frame_Shift_Del	DEL	AGAGGAG	AGAGGAG	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:107555161_107555167delAGAGGAG	ENST00000374736.3	-	42	6051_6057	c.5657_5663delCTCCTCT	c.(5656-5664)tctcctctgfs	p.SPL1886fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1886					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TTCATCATTCAGAGGAGATAGCTTTGC	0.386																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(5656-5664)tgfs		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)																																			SO:0001589	frameshift_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107555161_107555167delAGAGGAG	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5657_5663delCTCCTCT	9.37:g.107555161_107555167delAGAGGAG	ENSP00000363868:p.Ser1886fs						p.SPL1886fs	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	42	6051_6057	-			1886					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Frame_Shift_Del	DEL	ENST00000374736.3	37	c.5657_5663delCTCCTCT	CCDS6762.1																																																																																				0.386	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		21	55						21	55	---	---	---	---
KCNT1	57582	broad.mit.edu	37	9	138657029	138657029	+	Frame_Shift_Del	DEL	C	C	-	rs544796091	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:138657029delC	ENST00000263604.3	+	12	1131	c.1131delC	c.(1129-1131)cacfs	p.H377fs	KCNT1_ENST00000490355.2_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000488444.2_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000491806.2_Frame_Shift_Del_p.H363fs|KCNT1_ENST00000487664.1_Frame_Shift_Del_p.H351fs|KCNT1_ENST00000371757.2_Frame_Shift_Del_p.H396fs|KCNT1_ENST00000298480.5_Frame_Shift_Del_p.H396fs|KCNT1_ENST00000486577.2_Frame_Shift_Del_p.H357fs			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	377					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCTACGCCCACCCCCGGCTCC	0.642																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1186-1188)cafs		potassium channel, subfamily T, member 1							155.0	146.0	149.0					9																	138657029		2203	4300	6503	SO:0001589	frameshift_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138657029delC	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1131delC	9.37:g.138657029delC	ENSP00000263604:p.His377fs					KCNT1_ENST00000486577.2_Frame_Shift_Del_p.H357fs|KCNT1_ENST00000487664.1_Frame_Shift_Del_p.H351fs|KCNT1_ENST00000371757.2_Frame_Shift_Del_p.H396fs|KCNT1_ENST00000263604.3_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000491806.2_Frame_Shift_Del_p.H363fs|KCNT1_ENST00000488444.2_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000490355.2_Frame_Shift_Del_p.H377fs	p.H396fs			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	12	1262	+		Myeloproliferative disorder(178;0.0821)	396					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Frame_Shift_Del	DEL	ENST00000263604.3	37	c.1188delC																																																																																					0.642	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		12	40						12	40	---	---	---	---
WDR37	22884	broad.mit.edu	37	10	1149689	1149689	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:1149689delG	ENST00000358220.1	+	10	1018	c.874delG	c.(874-876)gggfs	p.G293fs	WDR37_ENST00000263150.4_Frame_Shift_Del_p.G293fs			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	293										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CTGGCTGGTTGGGGGGAAGCA	0.642																																						ENST00000358220.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17						c.(874-876)ggfs		WD repeat domain 37							62.0	57.0	59.0					10																	1149689		2203	4300	6503	SO:0001589	frameshift_variant	22884							g.chr10:1149689delG	AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"""WD repeat domain containing"""	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.874delG	10.37:g.1149689delG	ENSP00000350954:p.Gly293fs					WDR37_ENST00000263150.4_Frame_Shift_Del_p.G293fs	p.G293fs			Q9Y2I8	WDR37_HUMAN		Epithelial(11;0.134)	10	1018	+		all_epithelial(10;0.0449)|Colorectal(49;0.142)	293					A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Frame_Shift_Del	DEL	ENST00000358220.1	37	c.874delG	CCDS7057.1																																																																																				0.642	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023		16	45						16	45	---	---	---	---
DNA2	1763	broad.mit.edu	37	10	70182521	70182521	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:70182521delA	ENST00000358410.3	-	15	2385	c.2335delT	c.(2335-2337)tcafs	p.S779fs	DNA2_ENST00000399179.2_Intron|DNA2_ENST00000399180.2_Frame_Shift_Del_p.S865fs	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	779	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)	p.S779fs*6(1)|p.S865fs*6(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AATCTCCGTGAAAAAAAAAGG	0.403																																						ENST00000399180.2																			2	Deletion - Frameshift(2)	p.S779fs*6(1)|p.S865fs*6(1)	large_intestine(2)	breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(2593-2595)cafs		DNA replication helicase/nuclease 2				36,47,3383		0,0,36,2,43,1652	30.0	31.0	31.0			5.7	1.0	10		32	74,113,7597		0,0,74,8,97,3713	no	codingComplex	DNA2	NM_001080449.2		0,0,110,10,140,5365	A1A1,A1A2,A1R,A2A2,A2R,RR		2.4024,2.3947,2.4			70182521	110,160,10980	1797	4062	5859	SO:0001589	frameshift_variant	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70182521delA	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2335delT	10.37:g.70182521delA	ENSP00000351185:p.Ser779fs					DNA2_ENST00000358410.3_Frame_Shift_Del_p.S779fs|DNA2_ENST00000399179.2_Intron	p.S865fs			P51530	DNA2L_HUMAN			15	2592	-			779					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Frame_Shift_Del	DEL	ENST00000358410.3	37	c.2593delT																																																																																					0.403	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			11	41						11	41	---	---	---	---
ZSWIM8	23053	broad.mit.edu	37	10	75560464	75560464	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:75560464delC	ENST00000605216.1	+	24	5295	c.5078delC	c.(5077-5079)tccfs	p.S1693fs	RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000604524.1_Frame_Shift_Del_p.S1511fs|ZSWIM8_ENST00000604729.1_Frame_Shift_Del_p.S1690fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Del_p.S1698fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Del_p.S1652fs	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1693							zinc ion binding (GO:0008270)										TTCTCCCGCTCCCCCCCCTAC	0.607																																						ENST00000604729.1																			0											c.(5068-5070)tcfs		zinc finger, SWIM-type containing 8							128.0	134.0	132.0					10																	75560464		2002	4146	6148	SO:0001589	frameshift_variant	23053							g.chr10:75560464delC	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5078delC	10.37:g.75560464delC	ENSP00000474748:p.Ser1693fs					NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000605216.1_Frame_Shift_Del_p.S1693fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Del_p.S1652fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Del_p.S1698fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Del_p.S1511fs	p.S1690fs							24	5366	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Del	DEL	ENST00000605216.1	37	c.5069delC																																																																																					0.607	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		25	54						25	54	---	---	---	---
OR5F1	338674	broad.mit.edu	37	11	55762087	55762088	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:55762087_55762088insT	ENST00000278409.1	-	1	13_14	c.14_15insA	c.(13-15)aatfs	p.N5fs		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	5					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GTGAGGTATAATTTTTTCTGGT	0.307																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(13-15)atafs		olfactory receptor, family 5, subfamily F, member 1																																				SO:0001589	frameshift_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55762087_55762088insT	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.15dupA	11.37:g.55762093_55762093dupT	ENSP00000278409:p.Asn5fs						p.I5fs	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	13_14	-	Esophageal squamous(21;0.00448)		5					Q495D1|Q6IFB9	Frame_Shift_Ins	INS	ENST00000278409.1	37	c.14_15insA	CCDS31515.1																																																																																				0.307	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		16	44						16	44	---	---	---	---
OR8J1	219477	broad.mit.edu	37	11	56128471	56128471	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:56128471delT	ENST00000303039.3	+	1	781	c.749delT	c.(748-750)attfs	p.I250fs		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GCAGTCACAATTTTTTATGGG	0.348																																						ENST00000303039.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47						c.(748-750)atfs		olfactory receptor, family 8, subfamily J, member 1							128.0	115.0	119.0					11																	56128471		2201	4296	6497	SO:0001589	frameshift_variant	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128471delT	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.749delT	11.37:g.56128471delT	ENSP00000304060:p.Ile250fs						p.I250fs	NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN			1	781	+	Esophageal squamous(21;0.00448)		250					B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Frame_Shift_Del	DEL	ENST00000303039.3	37	c.749delT	CCDS31529.1																																																																																				0.348	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		8	113						8	113	---	---	---	---
KCNK7	10089	broad.mit.edu	37	11	65365835	65365835	+	5'Flank	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:65365835delC	ENST00000340313.4	-	0	0				MAP3K11_ENST00000532507.1_Frame_Shift_Del_p.G240fs|KCNK7_ENST00000394217.2_5'Flank|KCNK7_ENST00000342202.4_5'Flank|MAP3K11_ENST00000309100.3_Frame_Shift_Del_p.G824fs|MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000530153.1_Frame_Shift_Del_p.G567fs|KCNK7_ENST00000394216.2_5'Flank	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7						potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						GTCCTGGGGGCCCCCCTGGAA	0.701																																						ENST00000309100.3																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						c.(2470-2472)gcfs		mitogen-activated protein kinase kinase kinase 11							16.0	20.0	19.0					11																	65365835		2198	4296	6494	SO:0001631	upstream_gene_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65365835delC	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528		11.37:g.65365835delC	Exception_encountered					MAP3K11_ENST00000530153.1_Frame_Shift_Del_p.G567fs|MAP3K11_ENST00000532507.1_Frame_Shift_Del_p.G240fs	p.G824fs	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN			10	2956	-			824			Pro-rich.		Q3SYI2|Q9Y2U3|Q9Y2U4	Frame_Shift_Del	DEL	ENST00000340313.4	37	c.2471delG	CCDS31608.1																																																																																				0.701	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1	NM_005714		8	11						8	11	---	---	---	---
YIF1A	10897	broad.mit.edu	37	11	66055105	66055105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:66055105delG	ENST00000376901.4	-	4	575	c.391delC	c.(391-393)cggfs	p.R131fs	YIF1A_ENST00000526497.1_5'Flank|YIF1A_ENST00000496746.1_5'Flank|YIF1A_ENST00000471387.2_5'UTR|YIF1A_ENST00000359461.6_Frame_Shift_Del_p.R131fs	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	131					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						AGGTCTTGCCGGGGGGGCAGA	0.622																																						ENST00000376901.4																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						c.(391-393)ggfs		Yip1 interacting factor homolog A (S. cerevisiae)							30.0	30.0	30.0					11																	66055105		2200	4294	6494	SO:0001589	frameshift_variant	10897				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane		g.chr11:66055105delG	AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"""Yip1 interacting factor homolog (S. cerevisiae)"""	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.391delC	11.37:g.66055105delG	ENSP00000366098:p.Arg131fs					YIF1A_ENST00000359461.6_Frame_Shift_Del_p.R131fs|YIF1A_ENST00000471387.2_5'UTR	p.R131fs	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN			4	575	-			131					A6NM00|Q96G83|Q9BVD0	Frame_Shift_Del	DEL	ENST00000376901.4	37	c.391delC	CCDS8132.1																																																																																				0.622	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219903.3	NM_020470		10	45						10	45	---	---	---	---
TAF1D	79101	broad.mit.edu	37	11	93471453	93471453	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:93471453delT	ENST00000448108.2	-	3	931	c.281delA	c.(280-282)aagfs	p.K96fs	TAF1D_ENST00000546088.1_5'Flank	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	96					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						CCTCTTTTTCTTTTTTTTATA	0.348																																						ENST00000448108.2																			0				large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						c.(280-282)agfs		TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa							109.0	116.0	114.0					11																	93471453		2201	4298	6499	SO:0001589	frameshift_variant	79101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr11:93471453delT		CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"""Josephin domain containing 3"""	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.281delA	11.37:g.93471453delT	ENSP00000410409:p.Lys96fs						p.K96fs	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN			3	931	-			96					Q6I9Y6	Frame_Shift_Del	DEL	ENST00000448108.2	37	c.281delA	CCDS8293.1																																																																																				0.348	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116		7	107						7	107	---	---	---	---
PPFIBP1	8496	broad.mit.edu	37	12	27829391	27829391	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:27829391delG	ENST00000318304.8	+	18	1775	c.1492delG	c.(1492-1494)gggfs	p.G498fs	PPFIBP1_ENST00000228425.6_Frame_Shift_Del_p.G481fs|PPFIBP1_ENST00000537927.1_Frame_Shift_Del_p.G345fs|PPFIBP1_ENST00000542629.1_Frame_Shift_Del_p.G467fs	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	498					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAGGCCATTTGGGACCCTTCC	0.552																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(1492-1494)ggfs		PTPRF interacting protein, binding protein 1 (liprin beta 1)							69.0	72.0	71.0					12																	27829391		2203	4300	6503	SO:0001589	frameshift_variant	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27829391delG	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1492delG	12.37:g.27829391delG	ENSP00000314724:p.Gly498fs					PPFIBP1_ENST00000542629.1_Frame_Shift_Del_p.G467fs|PPFIBP1_ENST00000537927.1_Frame_Shift_Del_p.G345fs|PPFIBP1_ENST00000228425.6_Frame_Shift_Del_p.G481fs	p.G498fs	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN			18	1775	+	Lung SC(9;0.0873)		498					O75336|Q86X70|Q9NY03|Q9ULJ0	Frame_Shift_Del	DEL	ENST00000318304.8	37	c.1492delG	CCDS55812.1																																																																																				0.552	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		22	55						22	55	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46123836	46123837	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:46123836_46123837insA	ENST00000334344.6	+	2	274_275	c.102_103insA	c.(103-105)aaafs	p.K35fs	LINC00938_ENST00000609803.1_lincRNA|ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	35	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGTCGCCTTTTAAAAAAATCCC	0.624			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(100-105)ttaaaafs		AT rich interactive domain 2 (ARID, RFX-like)																																				SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46123836_46123837insA		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.109dupA	12.37:g.46123843_46123843dupA	ENSP00000335044:p.Lys35fs					ARID2_ENST00000422737.1_5'UTR	p.LK34fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	2	274_275	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	34			ARID.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Ins	INS	ENST00000334344.6	37	c.102_103insA	CCDS31783.1																																																																																				0.624	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		7	8						7	8	---	---	---	---
SRGAP1	57522	broad.mit.edu	37	12	64377821	64377821	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:64377821delA	ENST00000355086.3	+	2	686	c.162delA	c.(160-162)cgafs	p.R54fs	SRGAP1_ENST00000543397.1_Frame_Shift_Del_p.R14fs|SRGAP1_ENST00000357825.3_Frame_Shift_Del_p.R54fs	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	54	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATTTCTTCCGAAAAAAAGCTG	0.418																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(160-162)cgfs		SLIT-ROBO Rho GTPase activating protein 1							113.0	116.0	115.0					12																	64377821		2203	4300	6503	SO:0001589	frameshift_variant	57522				axon guidance	cytosol		g.chr12:64377821delA	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.162delA	12.37:g.64377821delA	ENSP00000347198:p.Arg54fs					SRGAP1_ENST00000543397.1_Frame_Shift_Del_p.R14fs|SRGAP1_ENST00000357825.3_Frame_Shift_Del_p.R54fs	p.R54fs	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	2	686	+			54			FCH.		Q9H8A3|Q9P2P2	Frame_Shift_Del	DEL	ENST00000355086.3	37	c.162delA	CCDS8967.1																																																																																				0.418	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			18	65						18	65	---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72013161	72013161	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:72013161delA	ENST00000378743.3	-	27	5436	c.5078delT	c.(5077-5079)ttgfs	p.L1693fs		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1693					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAATTTCCGCAAAAATGGAAG	0.348																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5077-5079)tgfs		zinc finger, C3H1-type containing							61.0	56.0	57.0					12																	72013161		1810	4070	5880	SO:0001589	frameshift_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72013161delA	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5078delT	12.37:g.72013161delA	ENSP00000368017:p.Leu1693fs						p.L1693fs	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			27	5436	-			1693					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Frame_Shift_Del	DEL	ENST00000378743.3	37	c.5078delT	CCDS41813.1																																																																																				0.348	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		15	21						15	21	---	---	---	---
STARD13	90627	broad.mit.edu	37	13	33684168	33684168	+	Frame_Shift_Del	DEL	G	G	-	rs34251901	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:33684168delG	ENST00000336934.5	-	12	3005	c.2889delC	c.(2887-2889)cccfs	p.P963fs	STARD13_ENST00000255486.4_Frame_Shift_Del_p.P955fs|STARD13_ENST00000399365.3_Frame_Shift_Del_p.P845fs	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	963	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGACCACTGAGGGGGGTGCTT	0.577											OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(2887-2889)ccfs		StAR-related lipid transfer (START) domain containing 13							92.0	83.0	86.0					13																	33684168		2203	4300	6503	SO:0001589	frameshift_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33684168delG	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2889delC	13.37:g.33684168delG	ENSP00000338785:p.Pro963fs		OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	STARD13_ENST00000399365.3_Frame_Shift_Del_p.P845fs|STARD13_ENST00000255486.4_Frame_Shift_Del_p.P955fs	p.P963fs	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	12	3005	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	963			START.		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Frame_Shift_Del	DEL	ENST00000336934.5	37	c.2889delC	CCDS9348.1																																																																																				0.577	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		14	27						14	27	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25453558	25453560	+	RNA	DEL	CTT	CTT	-	rs71418028|rs71127038	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:25453558_25453560delCTT	ENST00000424208.1	+	0	2384				SNORD115-20_ENST00000365099.1_RNA|SNORD115-22_ENST00000364456.1_RNA|SNORD115-21_ENST00000362963.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CTTTGAGTGACTTCTTCTGCCCA	0.631														188	0.0375399	0.0976	0.0259	5008	,	,		15746	0.0		0.0338	False		,,,				2504	0.0072					ENST00000424208.1																			0																																																			0							g.chr15:25453558_25453560delCTT			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25453561_25453563delCTT						SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	2384	+									RNA	DEL	ENST00000424208.1	37																																																																																						0.631	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			9	12						9	12	---	---	---	---
PDE8A	5151	broad.mit.edu	37	15	85659319	85659325	+	Frame_Shift_Del	DEL	ATTTTTG	ATTTTTG	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:85659319_85659325delATTTTTG	ENST00000310298.4	+	17	1756_1762	c.1504_1510delATTTTTG	c.(1504-1512)atttttgaafs	p.IFE502fs	PDE8A_ENST00000557957.1_Frame_Shift_Del_p.IFE430fs|PDE8A_ENST00000394553.1_Frame_Shift_Del_p.IFE502fs|PDE8A_ENST00000339708.5_Frame_Shift_Del_p.IFE456fs			O60658	PDE8A_HUMAN	phosphodiesterase 8A	502					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GGACTTTGATATTTTTGAACTGGAGGC	0.493																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(1504-1512)aafs		phosphodiesterase 8A																																				SO:0001589	frameshift_variant	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85659319_85659325delATTTTTG	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1504_1510delATTTTTG	15.37:g.85659319_85659325delATTTTTG	ENSP00000311453:p.Ile502fs					PDE8A_ENST00000557957.1_Frame_Shift_Del_p.IFE430fs|PDE8A_ENST00000339708.5_Frame_Shift_Del_p.IFE456fs|PDE8A_ENST00000394553.1_Frame_Shift_Del_p.IFE502fs	p.IFE502fs			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		17	1756_1762	+	Colorectal(223;0.227)		502					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Frame_Shift_Del	DEL	ENST00000310298.4	37	c.1504_1510delATTTTTG	CCDS10336.1																																																																																				0.493	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		22	55						22	55	---	---	---	---
MAN2A2	4122	broad.mit.edu	37	15	91456125	91456125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:91456125delC	ENST00000559717.1	+	17	2947	c.2488delC	c.(2488-2490)cccfs	p.P831fs	MAN2A2_ENST00000430376.2_Frame_Shift_Del_p.P21fs|MAN2A2_ENST00000431652.2_Frame_Shift_Del_p.P339fs|MAN2A2_ENST00000360468.3_Frame_Shift_Del_p.P831fs			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	831					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCCCAAGGAGCCCCCCGTGCT	0.572																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2488-2490)ccfs		mannosidase, alpha, class 2A, member 2							94.0	89.0	91.0					15																	91456125		2198	4298	6496	SO:0001589	frameshift_variant	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91456125delC	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.2488delC	15.37:g.91456125delC	ENSP00000452948:p.Pro831fs					MAN2A2_ENST00000559717.1_Frame_Shift_Del_p.P831fs|MAN2A2_ENST00000430376.2_Frame_Shift_Del_p.P21fs|MAN2A2_ENST00000431652.2_Frame_Shift_Del_p.P339fs	p.P831fs	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		16	2506	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		831					A6NH12|A8K1E8|Q13754	Frame_Shift_Del	DEL	ENST00000559717.1	37	c.2488delC	CCDS32332.1																																																																																				0.572	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		8	69						8	69	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72822112	72822113	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:72822112_72822113insC	ENST00000268489.5	-	10	10734_10735	c.10062_10063insG	c.(10060-10065)gggctgfs	p.L3355fs	AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.L2441fs|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3355					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCTGGGGACAGCCCCATCAGGG	0.624																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10060-10065)ggtgtcfs		zinc finger homeobox 3																																				SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72822112_72822113insC	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10063dupG	16.37:g.72822116_72822116dupC	ENSP00000268489:p.Leu3355fs					ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.V2441fs	p.V3355fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	10734_10735	-		Ovarian(137;0.13)	3355					D3DWS8|O15101|Q13719	Frame_Shift_Ins	INS	ENST00000268489.5	37	c.10062_10063insG	CCDS10908.1																																																																																				0.624	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		23	56						23	56	---	---	---	---
GEMIN4	50628	broad.mit.edu	37	17	650298	650298	+	Frame_Shift_Del	DEL	C	C	-	rs191715038	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:650298delC	ENST00000319004.5	-	2	1103	c.985delG	c.(985-987)gagfs	p.E330fs	GEMIN4_ENST00000437269.1_3'UTR|GEMIN4_ENST00000576778.1_Frame_Shift_Del_p.E319fs	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	330					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.E329fs*24(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGCAACTCCTCCCCCCACTCC	0.627																																						ENST00000576778.1																			1	Deletion - Frameshift(1)	p.E329fs*24(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(952-954)agfs		gem (nuclear organelle) associated protein 4							52.0	59.0	56.0					17																	650298		2105	4223	6328	SO:0001589	frameshift_variant	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:650298delC	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.985delG	17.37:g.650298delC	ENSP00000321706:p.Glu330fs					GEMIN4_ENST00000437269.1_3'UTR|GEMIN4_ENST00000319004.5_Frame_Shift_Del_p.E330fs	p.E319fs			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	2293	-		Myeloproliferative disorder(207;0.204)	330					Q9NZS7|Q9UG32|Q9Y4Q2	Frame_Shift_Del	DEL	ENST00000319004.5	37	c.952delG	CCDS45559.1																																																																																				0.627	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		11	82						11	82	---	---	---	---
PFN1	5216	broad.mit.edu	37	17	4850039	4850041	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:4850039_4850041delTTC	ENST00000225655.5	-	2	826_828	c.207_209delGAA	c.(205-210)cagaaa>caa	p.K70del	PFN1_ENST00000574872.1_In_Frame_Del_p.K34del	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	70					actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cell death (GO:0008219)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of ruffle assembly (GO:1900029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|proline-rich region binding (GO:0070064)			NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						CACCGAACATTTCTGGCCCCCAA	0.562																																						ENST00000225655.5																			0				NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(205-210)caa>ca		profilin 1																																				SO:0001651	inframe_deletion	5216				actin cytoskeleton organization|platelet activation|platelet degranulation	actin cytoskeleton|cytoplasm	actin binding|proline-rich region binding	g.chr17:4850039_4850041delTTC	BC057828	CCDS11061.1	17p13.2	2010-07-09			ENSG00000108518	ENSG00000108518			8881	protein-coding gene	gene with protein product		176610				3356709, 1968707	Standard	NM_005022		Approved		uc002gaa.4	P07737	OTTHUMG00000099396	ENST00000225655.5:c.207_209delGAA	17.37:g.4850039_4850041delTTC	ENSP00000225655:p.Lys70del					PFN1_ENST00000574872.1_In_Frame_Del_p.QK33del	p.QK69del	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN			2	826_828	-			69					Q53Y44	In_Frame_Del	DEL	ENST00000225655.5	37	c.207_209delGAA	CCDS11061.1																																																																																				0.562	PFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216853.1	NM_005022		22	67						22	67	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	15965099	15965099	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:15965099delG	ENST00000268712.3	-	37	5754	c.5497delC	c.(5497-5499)cagfs	p.Q1833fs	NCOR1_ENST00000395857.3_Frame_Shift_Del_p.Q417fs|NCOR1_ENST00000395851.1_Frame_Shift_Del_p.Q1849fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1833	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACATCCATCTGGGGTGCAGAA	0.532																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(5497-5499)agfs		nuclear receptor corepressor 1							58.0	62.0	61.0					17																	15965099		2203	4299	6502	SO:0001589	frameshift_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15965099delG	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5497delC	17.37:g.15965099delG	ENSP00000268712:p.Gln1833fs					NCOR1_ENST00000395851.1_Frame_Shift_Del_p.Q1849fs|NCOR1_ENST00000395857.3_Frame_Shift_Del_p.Q417fs	p.Q1833fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	37	5754	-			1833			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Frame_Shift_Del	DEL	ENST00000268712.3	37	c.5497delC	CCDS11175.1																																																																																				0.532	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		17	56						17	56	---	---	---	---
CACNB1	782	broad.mit.edu	37	17	37331578	37331579	+	Frame_Shift_Del	DEL	AT	AT	-	rs374654931		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:37331578_37331579delAT	ENST00000394303.3	-	14	1871_1872	c.1664_1665delAT	c.(1663-1665)tatfs	p.Y555fs	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	555					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTCTTCCTCATAGTCTTCTTC	0.649											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(5;100 366 38393 41452 45827)	ENST00000394303.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.(1663-1665)tfs		calcium channel, voltage-dependent, beta 1 subunit	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)																																			SO:0001589	frameshift_variant	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37331578_37331579delAT		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1664_1665delAT	17.37:g.37331578_37331579delAT	ENSP00000377840:p.Tyr555fs		OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	869	RP5-906A24.2_ENST00000579256.1_RNA	p.Y555fs	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN			14	1871_1872	-			555					A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Frame_Shift_Del	DEL	ENST00000394303.3	37	c.1664_1665delAT	CCDS42311.1																																																																																				0.649	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			10	204						10	204	---	---	---	---
RAMP2-AS1	100190938	broad.mit.edu	37	17	40905932	40905932	+	lincRNA	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:40905932delT	ENST00000592670.1	-	0	3117					NR_024461.1				RAMP2 antisense RNA 1																		CTCCAACttcttttttttttt	0.537																																						ENST00000592670.1																			0																																																			0							g.chr17:40905932delT	BC018638, BC041021		17q21.31	2012-10-12			ENSG00000197291	ENSG00000197291		"""Long non-coding RNAs"""	44358	non-coding RNA	RNA, long non-coding							Standard	NR_024461		Approved		uc002ibf.4				17.37:g.40905932delT								NR_024461.1						0	3117	-									RNA	DEL	ENST00000592670.1	37																																																																																						0.537	RAMP2-AS1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000452372.1	NR_024461		3	5						3	5	---	---	---	---
ENGASE	64772	broad.mit.edu	37	17	77079175	77079177	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:77079175_77079177delAGA	ENST00000579016.1	+	8	1112_1114	c.1112_1114delAGA	c.(1111-1116)gagaag>gag	p.K373del	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	373	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.					cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GAGTGTCTGGAGAAGAAGGATTT	0.562											OREG0024792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000579016.1																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(1111-1116)gag>g		endo-beta-N-acetylglucosaminidase																																				SO:0001651	inframe_deletion	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77079175_77079177delAGA	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1112_1114delAGA	17.37:g.77079178_77079180delAGA	ENSP00000462333:p.Lys373del		OREG0024792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1173	ENGASE_ENST00000584568.1_3'UTR	p.EK371del	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN			8	1112_1114	+			371			BRCT.		Q659F0|Q8TB86|Q9H6U4	In_Frame_Del	DEL	ENST00000579016.1	37	c.1112_1114delAGA	CCDS42394.1																																																																																				0.562	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		19	67						19	67	---	---	---	---
ICAM3	3385	broad.mit.edu	37	19	10446010	10446011	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:10446010_10446011insG	ENST00000160262.5	-	4	876_877	c.668_669insC	c.(667-669)ccgfs	p.P223fs	RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Frame_Shift_Ins_p.P146fs	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	223					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CCACGAGGCGCGGGGGGGTCAC	0.649																																						ENST00000589261.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(436-438)ccgfs		intercellular adhesion molecule 3																																				SO:0001589	frameshift_variant	3385				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr19:10446010_10446011insG		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.669dupC	19.37:g.10446017_10446017dupG	ENSP00000160262:p.Pro223fs					ICAM3_ENST00000160262.5_Frame_Shift_Ins_p.P223fs	p.P146fs			P32942	ICAM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)		4	969_970	-			223			Ig-like C2-type 2.		Q6PD68	Frame_Shift_Ins	INS	ENST00000160262.5	37	c.437_438insC	CCDS12235.1																																																																																				0.649	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			9	18						9	18	---	---	---	---
ILVBL	10994	broad.mit.edu	37	19	15233586	15233587	+	Frame_Shift_Del	DEL	CG	CG	-	rs114838237|rs376908486	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:15233586_15233587delCG	ENST00000263383.3	-	6	772_773	c.633_634delCG	c.(631-636)gacgtgfs	p.V212fs	AC003956.1_ENST00000598450.1_RNA|ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Frame_Shift_Del_p.V105fs	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	212						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GGGTACAGCACGTCAACGGGCA	0.629																																						ENST00000263383.3																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(631-636)gatgfs		ilvB (bacterial acetolactate synthase)-like																																				SO:0001589	frameshift_variant	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15233586_15233587delCG	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.633_634delCG	19.37:g.15233586_15233587delCG	ENSP00000263383:p.Val212fs					ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Frame_Shift_Del_p.DV104fs	p.DV211fs	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN			6	772_773	-			211					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Frame_Shift_Del	DEL	ENST00000263383.3	37	c.633_634delCG	CCDS12325.1																																																																																				0.629	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		28	37						28	37	---	---	---	---
MARK4	57787	broad.mit.edu	37	19	45805663	45805664	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:45805663_45805664insC	ENST00000262891.4	+	17	2285_2286	c.1954_1955insC	c.(1954-1956)gccfs	p.A652fs	MARK4_ENST00000300843.4_Frame_Shift_Ins_p.P679fs	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	652					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AACGGAAACCGCCCCCCGGCTG	0.639																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2032-2037)ccccccfs		MAP/microtubule affinity-regulating kinase 4																																				SO:0001589	frameshift_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45805663_45805664insC	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1960dupC	19.37:g.45805669_45805669dupC	ENSP00000262891:p.Ala652fs					MARK4_ENST00000262891.4_Frame_Shift_Ins_p.P652fs	p.PP678fs	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	18	2331_2332	+		all_neural(266;0.224)|Ovarian(192;0.231)	0					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Frame_Shift_Ins	INS	ENST00000262891.4	37	c.2034_2035insC	CCDS56097.1																																																																																				0.639	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		42	132						42	132	---	---	---	---
CGB5	93659	broad.mit.edu	37	19	49548414	49548414	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:49548414delG	ENST00000301408.6	+	3	687	c.361delG	c.(361-363)gggfs	p.G122fs	CGB1_ENST00000391869.3_Intron	NM_033043.1	NP_149032.1	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 5	122					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			ovary(1)|pancreas(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CACTGACTGCGGGGGTCCCAA	0.672																																						ENST00000301408.6																			0				ovary(1)|pancreas(1)	2						c.(361-363)ggfs		chorionic gonadotropin, beta polypeptide 5	Choriogonadotropin alfa(DB00097)						2.0	2.0	2.0					19																	49548414		552	1515	2067	SO:0001589	frameshift_variant	93659				apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49548414delG	X00265	CCDS12752.1	19q13.32	2008-02-05				ENSG00000189052			16452	protein-coding gene	gene with protein product		608825				6194155	Standard	NM_033043		Approved	HCG	uc002ply.3	P01233		ENST00000301408.6:c.361delG	19.37:g.49548414delG	ENSP00000301408:p.Gly122fs					CGB1_ENST00000391869.3_Intron	p.G122fs	NM_033043.1	NP_149032.1	P01233	CGHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	3	687	+		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	122					A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Frame_Shift_Del	DEL	ENST00000301408.6	37	c.361delG	CCDS12752.1																																																																																				0.672	CGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466251.1	NM_033043		9	16						9	16	---	---	---	---
EMC10	284361	broad.mit.edu	37	19	50985132	50985132	+	Intron	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:50985132delG	ENST00000334976.6	+	7	724				EMC10_ENST00000598585.1_Intron|EMC10_ENST00000376918.3_Frame_Shift_Del_p.L231fs|CTD-2545M3.2_ENST00000598194.1_RNA	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10							ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.A234fs*56(1)									ACATCATCCTGGGGGGGGCCG	0.736																																						ENST00000376918.3																			1	Insertion - Frameshift(1)	p.A234fs*56(1)	large_intestine(1)								c.(691-693)ctfs		ER membrane protein complex subunit 10			,	77,52,3703		3,0,71,2,48,1792					,	3.7	1.0			8	210,155,7453		5,1,199,6,142,3556	no	intron,codingComplex	C19orf63	NM_206538.2,NM_175063.4	,	8,1,270,8,190,5348	A1A1,A1A2,A1R,A2A2,A2R,RR		4.6687,3.3664,4.2403	,	,		287,207,11156				SO:0001627	intron_variant	284361							g.chr19:50985132delG	BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671			27609	protein-coding gene	gene with protein product	"""hematopoietic signal peptide-containing secreted 1"", ""hematopoietic signal peptide-containing membrane domain-containing 1"""	614545	"""chromosome 19 open reading frame 63"""	C19orf63		12975309, 22119785	Standard	NM_175063		Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000334976.6:c.679-274G>-	19.37:g.50985132delG						EMC10_ENST00000598585.1_Intron|EMC10_ENST00000334976.6_Intron|CTD-2545M3.2_ENST00000598194.1_RNA	p.L231fs	NM_175063.4	NP_778233.4					7	739	+								Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Frame_Shift_Del	DEL	ENST00000334976.6	37	c.693delG	CCDS12796.1																																																																																				0.736	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464760.2	NM_175063		7	5						7	5	---	---	---	---
ZNF616	90317	broad.mit.edu	37	19	52618188	52618188	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:52618188delT	ENST00000600228.1	-	4	2490	c.2229delA	c.(2227-2229)aaafs	p.K743fs	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	743					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P744fs*3(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATTTATAAGGTTTTTTGCCAG	0.393																																						ENST00000600228.1																			1	Insertion - Frameshift(1)	p.P744fs*3(1)	large_intestine(1)	breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2227-2229)aafs		zinc finger protein 616							121.0	123.0	122.0					19																	52618188		2203	4300	6503	SO:0001589	frameshift_variant	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618188delT	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2229delA	19.37:g.52618188delT	ENSP00000471000:p.Lys743fs					ZNF616_ENST00000330123.5_3'UTR	p.K743fs	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	2490	-			743					B3KRV1|Q0P658|Q658V7	Frame_Shift_Del	DEL	ENST00000600228.1	37	c.2229delA	CCDS33090.1																																																																																				0.393	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		11	85						11	85	---	---	---	---
SCAF4	57466	broad.mit.edu	37	21	33044256	33044257	+	In_Frame_Ins	INS	-	-	GCT	rs578023456|rs369631764	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr21:33044256_33044257insGCT	ENST00000286835.7	-	20	3281_3282	c.2899_2900insAGC	c.(2899-2901)cca>cAGCca	p.966_967insQ	SCAF4_ENST00000434667.3_In_Frame_Ins_p.951_952insQ|SCAF4_ENST00000399804.1_In_Frame_Ins_p.944_945insQ	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	966	Poly-Gln.					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						TGATGGTGgtggctgctgctgc	0.574																																						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.(2899-2901)acc>AGCacc		SR-related CTD-associated factor 4																																				SO:0001652	inframe_insertion	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33044256_33044257insGCT	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.2897_2899dupAGC	21.37:g.33044263_33044265dupGCT	ENSP00000286835:p.Gln966_Gln966dup					SCAF4_ENST00000399804.1_In_Frame_Ins_p.944_945insS|SCAF4_ENST00000434667.3_In_Frame_Ins_p.951_952insS	p.966_967insS	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			20	3281_3282	-			966			Poly-Gln.		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	In_Frame_Ins	INS	ENST00000286835.7	37	c.2899_2900insAGC	CCDS33537.1																																																																																				0.574	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		14	74						14	74	---	---	---	---
PAXBP1	94104	broad.mit.edu	37	21	34132172	34132173	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr21:34132172_34132173insT	ENST00000331923.4	-	6	1297_1298	c.1108_1109insA	c.(1108-1110)acafs	p.T370fs	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Frame_Shift_Ins_p.T370fs	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	370					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGTATTATCTGTTTTTTGAGAT	0.406																																						ENST00000331923.4																			0											c.(1108-1110)agafs		PAX3 and PAX7 binding protein 1																																				SO:0001589	frameshift_variant	94104							g.chr21:34132172_34132173insT	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1109dupA	21.37:g.34132178_34132178dupT	ENSP00000328992:p.Thr370fs					PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Frame_Shift_Ins_p.R370fs	p.R370fs	NM_016631.3	NP_057715.2					6	1297_1298	-								D3DSE7|Q96DU8|Q9NYQ0	Frame_Shift_Ins	INS	ENST00000331923.4	37	c.1108_1109insA	CCDS13619.1																																																																																				0.406	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		26	85						26	85	---	---	---	---
CLTCL1	8218	broad.mit.edu	37	22	19226837	19226837	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:19226837delA	ENST00000263200.10	-	5	828	c.756delT	c.(754-756)tttfs	p.F252fs	CLTCL1_ENST00000427926.1_Frame_Shift_Del_p.F252fs|CLTCL1_ENST00000353891.5_Frame_Shift_Del_p.F252fs	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	252	Globular terminal domain.|WD40-like repeat 5.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CCTCTGGAGGAAAAAACACAT	0.428			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(754-756)ttfs		clathrin, heavy chain-like 1							207.0	206.0	206.0					22																	19226837		1917	4128	6045	SO:0001589	frameshift_variant	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19226837delA		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.756delT	22.37:g.19226837delA	ENSP00000445677:p.Phe252fs					CLTCL1_ENST00000353891.5_Frame_Shift_Del_p.F252fs|CLTCL1_ENST00000427926.1_Frame_Shift_Del_p.F252fs	p.F252fs	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			5	828	-	Colorectal(54;0.0993)		252			Globular terminal domain.		B7Z7U5|Q14017|Q15808|Q15809	Frame_Shift_Del	DEL	ENST00000263200.10	37	c.756delT	CCDS46662.1																																																																																				0.428	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		42	97						42	97	---	---	---	---
GNAZ	2781	broad.mit.edu	37	22	23438097	23438099	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:23438097_23438099delTCA	ENST00000248996.4	+	2	881_883	c.215_217delTCA	c.(214-219)ctcatc>ctc	p.I74del	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	74					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)		TACAAGCCCCTCATCATCTACAA	0.606																																						ENST00000248996.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(214-219)ctc>c		guanine nucleotide binding protein (G protein), alpha z polypeptide																																				SO:0001651	inframe_deletion	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.chr22:23438097_23438099delTCA		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.215_217delTCA	22.37:g.23438100_23438102delTCA	ENSP00000248996:p.Ile74del					RTDR1_ENST00000216036.4_Intron	p.LI72del	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	881_883	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		72					B2R6C1|Q4QRJ6	In_Frame_Del	DEL	ENST00000248996.4	37	c.215_217delTCA	CCDS13804.1																																																																																				0.606	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		17	160						17	160	---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	44063044	44063044	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:44063044delT	ENST00000262726.7	-	17	2176	c.1923delA	c.(1921-1923)aaafs	p.K641fs	EFCAB6_ENST00000396231.2_Frame_Shift_Del_p.K489fs	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	641	EF-hand 7. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CAAGAAATCGTTTTTTGAATG	0.408																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1921-1923)aafs		EF-hand calcium binding domain 6							204.0	198.0	200.0					22																	44063044		2203	4300	6503	SO:0001589	frameshift_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44063044delT	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1923delA	22.37:g.44063044delT	ENSP00000262726:p.Lys641fs					EFCAB6_ENST00000396231.2_Frame_Shift_Del_p.K489fs	p.K641fs	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			17	2176	-		Ovarian(80;0.0247)|all_neural(38;0.025)	641			EF-hand 7.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Frame_Shift_Del	DEL	ENST00000262726.7	37	c.1923delA	CCDS14049.1																																																																																				0.408	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		14	79						14	79	---	---	---	---
GTSE1	51512	broad.mit.edu	37	22	46725429	46725429	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:46725429delA	ENST00000454366.1	+	11	2313	c.2101delA	c.(2101-2103)aaafs	p.K701fs		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	682					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AGACATGAATAAAAATGTGGC	0.517																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(2101-2103)aafs		G-2 and S-phase expressed 1							93.0	83.0	86.0					22																	46725429		2203	4300	6503	SO:0001589	frameshift_variant	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46725429delA	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.2101delA	22.37:g.46725429delA	ENSP00000415430:p.Lys701fs						p.K701fs	NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	11	2313	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	682					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Frame_Shift_Del	DEL	ENST00000454366.1	37	c.2101delA	CCDS14074.2																																																																																				0.517	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		23	59						23	59	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3228603	3228604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:3228603_3228604insG	ENST00000217939.6	-	7	7794_7795	c.7640_7641insC	c.(7639-7641)ccgfs	p.P2547fs		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2547	Ig-like C2-type 10.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCTCGCTGATCGGGTCGTGGAA	0.634																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(7639-7641)catfs		matrix-remodelling associated 5																																				SO:0001589	frameshift_variant	25878					extracellular region		g.chrX:3228603_3228604insG	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7641dupC	X.37:g.3228606_3228606dupG	ENSP00000217939:p.Pro2547fs						p.H2547fs	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			7	7794_7795	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2547			Ig-like C2-type 10.		Q6P1M7|Q9Y3Y8	Frame_Shift_Ins	INS	ENST00000217939.6	37	c.7640_7641insC	CCDS14124.1																																																																																				0.634	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		11	5						11	5	---	---	---	---
PRRG1	5638	broad.mit.edu	37	X	37312611	37312611	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:37312611delC	ENST00000542554.1	+	5	666	c.394delC	c.(394-396)cccfs	p.P135fs	TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	135	Poly-Pro.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TATCACCCCACCCCCCCCACC	0.488																																						ENST00000542554.1																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P135fs*3(1)|p.P134fs*19(1)	ovary(2)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(394-396)ccfs		proline rich Gla (G-carboxyglutamic acid) 1							117.0	111.0	113.0					X																	37312611		2202	4300	6502	SO:0001589	frameshift_variant	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312611delC	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.394delC	X.37:g.37312611delC	ENSP00000444278:p.Pro135fs					PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR	p.P135fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN			5	666	+			135			Poly-Pro.		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Frame_Shift_Del	DEL	ENST00000542554.1	37	c.394delC	CCDS14239.1																																																																																				0.488	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		9	58						9	58	---	---	---	---
SRPX	8406	broad.mit.edu	37	X	38020284	38020284	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:38020284delG	ENST00000378533.3	-	6	783	c.677delC	c.(676-678)ccafs	p.P226fs	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Frame_Shift_Del_p.P213fs|SRPX_ENST00000538295.1_Frame_Shift_Del_p.P226fs|SRPX_ENST00000479015.1_5'Flank|SRPX_ENST00000544439.1_Frame_Shift_Del_p.P206fs|SRPX_ENST00000432886.2_Frame_Shift_Del_p.P167fs	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	226	HYR. {ECO:0000255|PROSITE- ProRule:PRU00113}.				autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GTTGGAGCCTGGGGGGAGGCC	0.433																																						ENST00000378533.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(676-678)cafs		sushi-repeat containing protein, X-linked							75.0	69.0	71.0					X																	38020284		2202	4299	6501	SO:0001589	frameshift_variant	8406				cell adhesion	cell surface|membrane		g.chrX:38020284delG	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.677delC	X.37:g.38020284delG	ENSP00000367794:p.Pro226fs					SRPX_ENST00000432886.2_Frame_Shift_Del_p.P167fs|SRPX_ENST00000538295.1_Frame_Shift_Del_p.P226fs|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Frame_Shift_Del_p.P213fs|SRPX_ENST00000544439.1_Frame_Shift_Del_p.P206fs	p.P226fs	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			6	783	-			226			HYR.		A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Frame_Shift_Del	DEL	ENST00000378533.3	37	c.677delC	CCDS14245.1																																																																																				0.433	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		30	18						30	18	---	---	---	---
ZNF41	7592	broad.mit.edu	37	X	47315344	47315344	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:47315344delC	ENST00000377065.4	-	4	910	c.271delG	c.(271-273)gaafs	p.E91fs	ZNF41_ENST00000313116.7_Frame_Shift_Del_p.E91fs|ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000397050.2_Frame_Shift_Del_p.E101fs	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	133	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TGTGGGGCTTCCCCCTCCAGC	0.532																																						ENST00000377065.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(271-273)aafs		zinc finger protein 41							107.0	87.0	93.0					X																	47315344		2203	4300	6503	SO:0001589	frameshift_variant	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47315344delC	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.271delG	X.37:g.47315344delC	ENSP00000366265:p.Glu91fs					ZNF41_ENST00000313116.7_Frame_Shift_Del_p.E91fs|ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000397050.2_Frame_Shift_Del_p.E101fs	p.E91fs	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN			4	910	-		all_lung(315;0.000129)	133			KRAB.		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Frame_Shift_Del	DEL	ENST00000377065.4	37	c.271delG	CCDS14279.1																																																																																				0.532	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		15	5						15	5	---	---	---	---
USP26	83844	broad.mit.edu	37	X	132160413	132160413	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:132160413delT	ENST00000511190.1	-	6	2305	c.1836delA	c.(1834-1836)aaafs	p.K612fs	USP26_ENST00000406273.1_Frame_Shift_Del_p.K612fs|USP26_ENST00000370832.1_Frame_Shift_Del_p.K612fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	612	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.K611fs*4(1)|p.K612fs*6(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTGTCTGGCCTTTTTTTTGTT	0.413																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			2	Deletion - Frameshift(2)	p.K611fs*4(1)|p.K612fs*6(1)	urinary_tract(1)|large_intestine(1)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(1834-1836)aafs		ubiquitin specific peptidase 26				11,3710		5,0,1,1587,536	74.0	63.0	67.0			-7.3	0.0	X		67	4,6478		1,1,1,2354,1769	no	frameshift	USP26	NM_031907.1		6,1,2,3941,2305	A1A1,A1R,A1,RR,R		0.0617,0.2956,0.147			132160413	15,10188	2203	4299	6502	SO:0001589	frameshift_variant	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132160413delT	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1836delA	X.37:g.132160413delT	ENSP00000423390:p.Lys612fs					USP26_ENST00000406273.1_Frame_Shift_Del_p.K612fs|USP26_ENST00000370832.1_Frame_Shift_Del_p.K612fs	p.K612fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	2305	-	Acute lymphoblastic leukemia(192;0.000127)		612					B9WRT6|Q5H9H4	Frame_Shift_Del	DEL	ENST00000511190.1	37	c.1836delA	CCDS14635.1																																																																																				0.413	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		16	15						16	15	---	---	---	---
PGBD2	267002	broad.mit.edu	37	1	249211828	249211828	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:249211828delT	ENST00000329291.5	+	3	1192	c.1045delT	c.(1045-1047)tttfs	p.F350fs	PGBD2_ENST00000355360.4_Frame_Shift_Del_p.F99fs|PGBD2_ENST00000539153.1_Frame_Shift_Del_p.F347fs	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	350										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATATCACATATTTTTTGACAA	0.438																																						ENST00000355360.4																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(292-294)ttfs		piggyBac transposable element derived 2							112.0	116.0	115.0					1																	249211828		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr1:249211828delT	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1045delT	1.37:g.249211828delT	ENSP00000331643:p.Phe350fs					PGBD2_ENST00000329291.5_Frame_Shift_Del_p.F350fs|PGBD2_ENST00000539153.1_Frame_Shift_Del_p.F347fs	p.F99fs	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	562	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	350					B3KVR8|Q6MZF8	Frame_Shift_Del	DEL	ENST00000329291.5	37	c.292delT	CCDS31128.1																																																																																				0.438	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			7	144						7	144	---	---	---	---
MSH2	4436	broad.mit.edu	37	2	47693894	47693895	+	Frame_Shift_Ins	INS	-	-	A	rs63750510		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr2:47693894_47693895insA	ENST00000233146.2	+	10	1831_1832	c.1608_1609insA	c.(1609-1611)aaafs	p.K537fs	MSH2_ENST00000406134.1_Frame_Shift_Ins_p.K537fs|MSH2_ENST00000543555.1_Frame_Shift_Ins_p.K471fs	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	537					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCGTAACAATAAAAACTTTAG	0.342			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406134.1			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"""D, Mis, N, F, S"""	mutS homolog 2 (E. coli)			E		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		4	Whole gene deletion(2)|Unknown(2)	p.0?(2)|p.?(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112						c.(1606-1611)aaaaaafs	Mismatch excision repair (MMR)	mutS homolog 2																																				SO:0001589	frameshift_variant	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47693894_47693895insA	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1613dupA	2.37:g.47693899_47693899dupA	ENSP00000233146:p.Lys537fs					MSH2_ENST00000233146.2_Frame_Shift_Ins_p.KK536fs|MSH2_ENST00000543555.1_Frame_Shift_Ins_p.KK470fs	p.KK536fs			P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1670_1671	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	536					B4E2Z2|O75488	Frame_Shift_Ins	INS	ENST00000233146.2	37	c.1608_1609insA	CCDS1834.1																																																																																				0.342	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			22	40						22	40	---	---	---	---
TOP2B	7155	broad.mit.edu	37	3	25674067	25674067	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:25674067delT	ENST00000264331.4	-	10	1135	c.1136delA	c.(1135-1137)aacfs	p.N379fs	TOP2B_ENST00000435706.2_Frame_Shift_Del_p.N374fs	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	379					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CCATATATGGTTTTTTACCTG	0.299																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(1120-1122)acfs		topoisomerase (DNA) II beta 180kDa							38.0	36.0	37.0					3																	25674067		1785	4053	5838	SO:0001589	frameshift_variant	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25674067delT	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1136delA	3.37:g.25674067delT	ENSP00000264331:p.Asn379fs					TOP2B_ENST00000264331.4_Frame_Shift_Del_p.N379fs	p.N374fs			Q02880	TOP2B_HUMAN			10	1322	-			379					Q13600|Q9UMG8|Q9UQP8	Frame_Shift_Del	DEL	ENST00000264331.4	37	c.1121delA																																																																																					0.299	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				14	21						14	21	---	---	---	---
GP5	2814	broad.mit.edu	37	3	194117340	194117341	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr3:194117340_194117341delCT	ENST00000401815.1	-	1	1742_1743	c.1671_1672delAG	c.(1669-1674)agagccfs	p.RA557fs	GP5_ENST00000323007.3_Frame_Shift_Del_p.RA557fs			P40197	GPV_HUMAN	glycoprotein V (platelet)	557					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TACCCAAGGGCTCTCTCTCTGA	0.446																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1669-1674)agccfs		glycoprotein V (platelet)																																				SO:0001589	frameshift_variant	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194117340_194117341delCT	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.1671_1672delAG	3.37:g.194117348_194117349delCT	ENSP00000383931:p.Arg557fs					GP5_ENST00000323007.3_Frame_Shift_Del_p.RA557fs	p.RA557fs			P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	1742_1743	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	557					D1MER9	Frame_Shift_Del	DEL	ENST00000401815.1	37	c.1671_1672delAG	CCDS3307.1																																																																																				0.446	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		7	198						7	198	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89979676	89979677	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr5:89979676_89979677insT	ENST00000405460.2	+	28	6034_6035	c.5938_5939insT	c.(5938-5940)attfs	p.I1980fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1980	Calx-beta 14. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S1982fs*2(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGATATTCATTTTTTCTGAG	0.401																																						ENST00000405460.2																			1	Insertion - Frameshift(1)	p.S1982fs*2(1)	large_intestine(1)	NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(5938-5940)tttfs		G protein-coupled receptor 98																																				SO:0001589	frameshift_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89979676_89979677insT	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5944dupT	5.37:g.89979682_89979682dupT	ENSP00000384582:p.Ile1980fs						p.F1980fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	28	6034_6035	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1980					O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Ins	INS	ENST00000405460.2	37	c.5938_5939insT	CCDS47246.1																																																																																				0.401	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		15	23						15	23	---	---	---	---
TCP1	6950	broad.mit.edu	37	6	160209177	160209178	+	Splice_Site	DEL	TG	TG	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr6:160209177_160209178delTG	ENST00000321394.7	-	2	345		c.e2-2		SNORA29_ENST00000384183.1_RNA|TCP1_ENST00000420894.2_Splice_Site|MRPL18_ENST00000367034.4_5'Flank|TCP1_ENST00000546023.1_5'Flank|TCP1_ENST00000392168.2_Intron|TCP1_ENST00000544255.1_Intron	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1						'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)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CAGCCATAACTGTAGACAATCA	0.371																																						ENST00000321394.7																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10						c.e2-2		t-complex 1																																				SO:0001630	splice_region_variant	6950				'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding	g.chr6:160209177_160209178delTG	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.65-2CA>-	6.37:g.160209177_160209178delTG						TCP1_ENST00000544255.1_Intron|TCP1_ENST00000420894.2_Splice_Site|TCP1_ENST00000392168.2_Intron		NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	2	345	-		Breast(66;1.53e-05)|Ovarian(120;0.024)						E1P5B2|Q15556|Q5TCM3	Splice_Site	DEL	ENST00000321394.7	37		CCDS5269.1																																																																																				0.371	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752	Intron	9	42						9	42	---	---	---	---
GTF2IRD2P1	401375	broad.mit.edu	37	7	72664015	72664016	+	RNA	INS	-	-	G	rs202030378|rs372212945	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:72664015_72664016insG	ENST00000425256.1	-	0	884_885									GTF2I repeat domain containing 2 pseudogene 1																		ATACCACCCCCGGGGCATGCCA	0.505													GGGGG|GGGG|GGGGG|deletion	3786	0.75599	0.7247	0.8242	5008	,	,		6539	0.7212		0.8101	False		,,,				2504	0.7301					ENST00000425256.1																			0																																																			0							g.chr7:72664015_72664016insG	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72664019_72664019dupG								NR_002164.1						0	884_885	-									RNA	INS	ENST00000425256.1	37																																																																																						0.505	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		7	11						7	11	---	---	---	---
DNAJC2	27000	broad.mit.edu	37	7	102964991	102964992	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:102964991_102964992insT	ENST00000379263.3	-	6	840_841	c.590_591insA	c.(589-591)aatfs	p.N197fs	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Frame_Shift_Ins_p.N197fs	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	197	ZRF1-UBD.				'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						GTTTAGGAACATTTTTTTTATT	0.238																																						ENST00000379263.3																			0				endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(589-591)agtfs		DnaJ (Hsp40) homolog, subfamily C, member 2																																				SO:0001589	frameshift_variant	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102964991_102964992insT	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.591dupA	7.37:g.102964999_102964999dupT	ENSP00000368565:p.Asn197fs					DNAJC2_ENST00000249270.7_Frame_Shift_Ins_p.S197fs|PMPCB_ENST00000420236.2_Intron	p.S197fs	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN			6	840_841	-			197			ZRF1-UBD.		A4VCI0|Q9BVX1	Frame_Shift_Ins	INS	ENST00000379263.3	37	c.590_591insA	CCDS43628.1																																																																																				0.238	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			18	51						18	51	---	---	---	---
RGS22	26166	broad.mit.edu	37	8	101014478	101014478	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:101014478delT	ENST00000360863.6	-	18	2936	c.2742delA	c.(2740-2742)aaafs	p.K914fs	RGS22_ENST00000519421.1_5'Flank|RGS22_ENST00000523287.1_Frame_Shift_Del_p.K733fs|SNORD77_ENST00000391112.1_RNA|RGS22_ENST00000523437.1_Frame_Shift_Del_p.K902fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	914	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CAAAGAAATATTTTTTATTAA	0.343																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(2740-2742)aafs		regulator of G-protein signaling 22							80.0	78.0	79.0					8																	101014478		1794	4061	5855	SO:0001589	frameshift_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101014478delT	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2742delA	8.37:g.101014478delT	ENSP00000354109:p.Lys914fs					RGS22_ENST00000523287.1_Frame_Shift_Del_p.K733fs|RGS22_ENST00000523437.1_Frame_Shift_Del_p.K902fs	p.K914fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		18	2936	-			914			RGS 1.		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Frame_Shift_Del	DEL	ENST00000360863.6	37	c.2742delA	CCDS43758.1																																																																																				0.343	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		20	31						20	31	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113241029	113241029	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr8:113241029delA	ENST00000297405.5	-	70	11164	c.10920delT	c.(10918-10920)tttfs	p.F3640fs	CSMD3_ENST00000343508.3_Frame_Shift_Del_p.F3600fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.F3471fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.F3570fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3640						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATAAGTGCAAAAAAAGGCA	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10918-10920)ttfs		CUB and Sushi multiple domains 3							78.0	81.0	80.0					8																	113241029		2203	4297	6500	SO:0001589	frameshift_variant	114788					integral to membrane|plasma membrane		g.chr8:113241029delA	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10920delT	8.37:g.113241029delA	ENSP00000297405:p.Phe3640fs	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Frame_Shift_Del_p.F3471fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.F3570fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.F3600fs	p.F3640fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			70	11164	-			3640					Q96PZ3	Frame_Shift_Del	DEL	ENST00000297405.5	37	c.10920delT	CCDS6315.1																																																																																				0.303	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		9	47						9	47	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107555161	107555167	+	Frame_Shift_Del	DEL	AGAGGAG	AGAGGAG	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr9:107555161_107555167delAGAGGAG	ENST00000374736.3	-	42	6051_6057	c.5657_5663delCTCCTCT	c.(5656-5664)tctcctctgfs	p.SPL1886fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1886					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TTCATCATTCAGAGGAGATAGCTTTGC	0.386																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(5656-5664)tgfs		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)																																			SO:0001589	frameshift_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107555161_107555167delAGAGGAG	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5657_5663delCTCCTCT	9.37:g.107555161_107555167delAGAGGAG	ENSP00000363868:p.Ser1886fs						p.SPL1886fs	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	42	6051_6057	-			1886					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Frame_Shift_Del	DEL	ENST00000374736.3	37	c.5657_5663delCTCCTCT	CCDS6762.1																																																																																				0.386	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		21	55						21	55	---	---	---	---
WDR37	22884	broad.mit.edu	37	10	1149689	1149689	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:1149689delG	ENST00000358220.1	+	10	1018	c.874delG	c.(874-876)gggfs	p.G293fs	WDR37_ENST00000263150.4_Frame_Shift_Del_p.G293fs			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	293										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CTGGCTGGTTGGGGGGAAGCA	0.642																																						ENST00000358220.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17						c.(874-876)ggfs		WD repeat domain 37							62.0	57.0	59.0					10																	1149689		2203	4300	6503	SO:0001589	frameshift_variant	22884							g.chr10:1149689delG	AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"""WD repeat domain containing"""	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.874delG	10.37:g.1149689delG	ENSP00000350954:p.Gly293fs					WDR37_ENST00000263150.4_Frame_Shift_Del_p.G293fs	p.G293fs			Q9Y2I8	WDR37_HUMAN		Epithelial(11;0.134)	10	1018	+		all_epithelial(10;0.0449)|Colorectal(49;0.142)	293					A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Frame_Shift_Del	DEL	ENST00000358220.1	37	c.874delG	CCDS7057.1																																																																																				0.642	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023		16	45						16	45	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81072446	81072446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr10:81072446delC	ENST00000334512.5	+	25	3716	c.3144delC	c.(3142-3144)gacfs	p.D1048fs	ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1048					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTATCTGGACCCCCCCGACC	0.557																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(3142-3144)gafs		zinc finger, MIZ-type containing 1							193.0	181.0	185.0					10																	81072446		2203	4300	6503	SO:0001589	frameshift_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81072446delC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.3144delC	10.37:g.81072446delC	ENSP00000334474:p.Asp1048fs					ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	p.D1048fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		25	3716	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		1048					Q5JSH9|Q7Z7E6	Frame_Shift_Del	DEL	ENST00000334512.5	37	c.3144delC	CCDS7357.1																																																																																				0.557	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		8	152						8	152	---	---	---	---
OR8J1	219477	broad.mit.edu	37	11	56128471	56128471	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:56128471delT	ENST00000303039.3	+	1	781	c.749delT	c.(748-750)attfs	p.I250fs		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GCAGTCACAATTTTTTATGGG	0.348																																						ENST00000303039.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47						c.(748-750)atfs		olfactory receptor, family 8, subfamily J, member 1							128.0	115.0	119.0					11																	56128471		2201	4296	6497	SO:0001589	frameshift_variant	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128471delT	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.749delT	11.37:g.56128471delT	ENSP00000304060:p.Ile250fs						p.I250fs	NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN			1	781	+	Esophageal squamous(21;0.00448)		250					B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Frame_Shift_Del	DEL	ENST00000303039.3	37	c.749delT	CCDS31529.1																																																																																				0.348	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		8	113						8	113	---	---	---	---
KCNK7	10089	broad.mit.edu	37	11	65365835	65365835	+	5'Flank	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:65365835delC	ENST00000340313.4	-	0	0				MAP3K11_ENST00000532507.1_Frame_Shift_Del_p.G240fs|KCNK7_ENST00000394217.2_5'Flank|KCNK7_ENST00000342202.4_5'Flank|MAP3K11_ENST00000309100.3_Frame_Shift_Del_p.G824fs|MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000530153.1_Frame_Shift_Del_p.G567fs|KCNK7_ENST00000394216.2_5'Flank	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7						potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						GTCCTGGGGGCCCCCCTGGAA	0.701																																						ENST00000309100.3																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						c.(2470-2472)gcfs		mitogen-activated protein kinase kinase kinase 11							16.0	20.0	19.0					11																	65365835		2198	4296	6494	SO:0001631	upstream_gene_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65365835delC	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528		11.37:g.65365835delC	Exception_encountered					MAP3K11_ENST00000532507.1_Frame_Shift_Del_p.G240fs|MAP3K11_ENST00000530153.1_Frame_Shift_Del_p.G567fs	p.G824fs	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN			10	2956	-			824			Pro-rich.		Q3SYI2|Q9Y2U3|Q9Y2U4	Frame_Shift_Del	DEL	ENST00000340313.4	37	c.2471delG	CCDS31608.1																																																																																				0.701	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1	NM_005714		8	11						8	11	---	---	---	---
YIF1A	10897	broad.mit.edu	37	11	66055105	66055105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:66055105delG	ENST00000376901.4	-	4	575	c.391delC	c.(391-393)cggfs	p.R131fs	YIF1A_ENST00000526497.1_5'Flank|YIF1A_ENST00000496746.1_5'Flank|YIF1A_ENST00000471387.2_5'UTR|YIF1A_ENST00000359461.6_Frame_Shift_Del_p.R131fs	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	131					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						AGGTCTTGCCGGGGGGGCAGA	0.622																																						ENST00000376901.4																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						c.(391-393)ggfs		Yip1 interacting factor homolog A (S. cerevisiae)							30.0	30.0	30.0					11																	66055105		2200	4294	6494	SO:0001589	frameshift_variant	10897				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane		g.chr11:66055105delG	AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"""Yip1 interacting factor homolog (S. cerevisiae)"""	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.391delC	11.37:g.66055105delG	ENSP00000366098:p.Arg131fs					YIF1A_ENST00000359461.6_Frame_Shift_Del_p.R131fs|YIF1A_ENST00000471387.2_5'UTR	p.R131fs	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN			4	575	-			131					A6NM00|Q96G83|Q9BVD0	Frame_Shift_Del	DEL	ENST00000376901.4	37	c.391delC	CCDS8132.1																																																																																				0.622	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219903.3	NM_020470		10	45						10	45	---	---	---	---
TAF1D	79101	broad.mit.edu	37	11	93471453	93471453	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:93471453delT	ENST00000448108.2	-	3	931	c.281delA	c.(280-282)aagfs	p.K96fs	TAF1D_ENST00000546088.1_5'Flank	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	96					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						CCTCTTTTTCTTTTTTTTATA	0.348																																						ENST00000448108.2																			0				large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						c.(280-282)agfs		TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa							109.0	116.0	114.0					11																	93471453		2201	4298	6499	SO:0001589	frameshift_variant	79101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr11:93471453delT		CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"""Josephin domain containing 3"""	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.281delA	11.37:g.93471453delT	ENSP00000410409:p.Lys96fs						p.K96fs	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN			3	931	-			96					Q6I9Y6	Frame_Shift_Del	DEL	ENST00000448108.2	37	c.281delA	CCDS8293.1																																																																																				0.348	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116		7	107						7	107	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102743846	102743847	+	RNA	INS	-	-	A	rs552593852|rs199627800		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:102743846_102743847insA	ENST00000532855.1	-	0	199							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	AGTATCTCTGGAAAAAAAAATA	0.332																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)																																					4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102743846_102743847insA	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102743855_102743855dupA										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	199	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	INS	ENST00000532855.1	37																																																																																						0.332	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		8	10						8	10	---	---	---	---
PPFIBP1	8496	broad.mit.edu	37	12	27829391	27829391	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:27829391delG	ENST00000318304.8	+	18	1775	c.1492delG	c.(1492-1494)gggfs	p.G498fs	PPFIBP1_ENST00000228425.6_Frame_Shift_Del_p.G481fs|PPFIBP1_ENST00000537927.1_Frame_Shift_Del_p.G345fs|PPFIBP1_ENST00000542629.1_Frame_Shift_Del_p.G467fs	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	498					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAGGCCATTTGGGACCCTTCC	0.552																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(1492-1494)ggfs		PTPRF interacting protein, binding protein 1 (liprin beta 1)							69.0	72.0	71.0					12																	27829391		2203	4300	6503	SO:0001589	frameshift_variant	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27829391delG	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1492delG	12.37:g.27829391delG	ENSP00000314724:p.Gly498fs					PPFIBP1_ENST00000537927.1_Frame_Shift_Del_p.G345fs|PPFIBP1_ENST00000542629.1_Frame_Shift_Del_p.G467fs|PPFIBP1_ENST00000228425.6_Frame_Shift_Del_p.G481fs	p.G498fs	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN			18	1775	+	Lung SC(9;0.0873)		498					O75336|Q86X70|Q9NY03|Q9ULJ0	Frame_Shift_Del	DEL	ENST00000318304.8	37	c.1492delG	CCDS55812.1																																																																																				0.552	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		22	55						22	55	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46123836	46123837	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:46123836_46123837insA	ENST00000334344.6	+	2	274_275	c.102_103insA	c.(103-105)aaafs	p.K35fs	LINC00938_ENST00000609803.1_lincRNA|ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	35	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGTCGCCTTTTAAAAAAATCCC	0.624			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(100-105)ttaaaafs		AT rich interactive domain 2 (ARID, RFX-like)																																				SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46123836_46123837insA		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.109dupA	12.37:g.46123843_46123843dupA	ENSP00000335044:p.Lys35fs					ARID2_ENST00000422737.1_5'UTR	p.LK34fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	2	274_275	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	34			ARID.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Ins	INS	ENST00000334344.6	37	c.102_103insA	CCDS31783.1																																																																																				0.624	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		7	8						7	8	---	---	---	---
SRGAP1	57522	broad.mit.edu	37	12	64377821	64377821	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr12:64377821delA	ENST00000355086.3	+	2	686	c.162delA	c.(160-162)cgafs	p.R54fs	SRGAP1_ENST00000543397.1_Frame_Shift_Del_p.R14fs|SRGAP1_ENST00000357825.3_Frame_Shift_Del_p.R54fs	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	54	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATTTCTTCCGAAAAAAAGCTG	0.418																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(160-162)cgfs		SLIT-ROBO Rho GTPase activating protein 1							113.0	116.0	115.0					12																	64377821		2203	4300	6503	SO:0001589	frameshift_variant	57522				axon guidance	cytosol		g.chr12:64377821delA	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.162delA	12.37:g.64377821delA	ENSP00000347198:p.Arg54fs					SRGAP1_ENST00000543397.1_Frame_Shift_Del_p.R14fs|SRGAP1_ENST00000357825.3_Frame_Shift_Del_p.R54fs	p.R54fs	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	2	686	+			54			FCH.		Q9H8A3|Q9P2P2	Frame_Shift_Del	DEL	ENST00000355086.3	37	c.162delA	CCDS8967.1																																																																																				0.418	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			18	65						18	65	---	---	---	---
STARD13	90627	broad.mit.edu	37	13	33684168	33684168	+	Frame_Shift_Del	DEL	G	G	-	rs34251901	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr13:33684168delG	ENST00000336934.5	-	12	3005	c.2889delC	c.(2887-2889)cccfs	p.P963fs	STARD13_ENST00000255486.4_Frame_Shift_Del_p.P955fs|STARD13_ENST00000399365.3_Frame_Shift_Del_p.P845fs	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	963	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGACCACTGAGGGGGGTGCTT	0.577											OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(2887-2889)ccfs		StAR-related lipid transfer (START) domain containing 13							92.0	83.0	86.0					13																	33684168		2203	4300	6503	SO:0001589	frameshift_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33684168delG	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2889delC	13.37:g.33684168delG	ENSP00000338785:p.Pro963fs		OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	STARD13_ENST00000399365.3_Frame_Shift_Del_p.P845fs|STARD13_ENST00000255486.4_Frame_Shift_Del_p.P955fs	p.P963fs	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	12	3005	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	963			START.		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Frame_Shift_Del	DEL	ENST00000336934.5	37	c.2889delC	CCDS9348.1																																																																																				0.577	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		14	27						14	27	---	---	---	---
PDE8A	5151	broad.mit.edu	37	15	85659319	85659325	+	Frame_Shift_Del	DEL	ATTTTTG	ATTTTTG	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr15:85659319_85659325delATTTTTG	ENST00000310298.4	+	17	1756_1762	c.1504_1510delATTTTTG	c.(1504-1512)atttttgaafs	p.IFE502fs	PDE8A_ENST00000557957.1_Frame_Shift_Del_p.IFE430fs|PDE8A_ENST00000394553.1_Frame_Shift_Del_p.IFE502fs|PDE8A_ENST00000339708.5_Frame_Shift_Del_p.IFE456fs			O60658	PDE8A_HUMAN	phosphodiesterase 8A	502					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GGACTTTGATATTTTTGAACTGGAGGC	0.493																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(1504-1512)aafs		phosphodiesterase 8A																																				SO:0001589	frameshift_variant	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85659319_85659325delATTTTTG	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1504_1510delATTTTTG	15.37:g.85659319_85659325delATTTTTG	ENSP00000311453:p.Ile502fs					PDE8A_ENST00000394553.1_Frame_Shift_Del_p.IFE502fs|PDE8A_ENST00000339708.5_Frame_Shift_Del_p.IFE456fs|PDE8A_ENST00000557957.1_Frame_Shift_Del_p.IFE430fs	p.IFE502fs			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		17	1756_1762	+	Colorectal(223;0.227)		502					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Frame_Shift_Del	DEL	ENST00000310298.4	37	c.1504_1510delATTTTTG	CCDS10336.1																																																																																				0.493	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		22	55						22	55	---	---	---	---
GEMIN4	50628	broad.mit.edu	37	17	650298	650298	+	Frame_Shift_Del	DEL	C	C	-	rs191715038	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:650298delC	ENST00000319004.5	-	2	1103	c.985delG	c.(985-987)gagfs	p.E330fs	GEMIN4_ENST00000437269.1_3'UTR|GEMIN4_ENST00000576778.1_Frame_Shift_Del_p.E319fs	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	330					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.E329fs*24(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGCAACTCCTCCCCCCACTCC	0.627																																						ENST00000576778.1																			1	Deletion - Frameshift(1)	p.E329fs*24(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(952-954)agfs		gem (nuclear organelle) associated protein 4							52.0	59.0	56.0					17																	650298		2105	4223	6328	SO:0001589	frameshift_variant	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:650298delC	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.985delG	17.37:g.650298delC	ENSP00000321706:p.Glu330fs					GEMIN4_ENST00000437269.1_3'UTR|GEMIN4_ENST00000319004.5_Frame_Shift_Del_p.E330fs	p.E319fs			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	2293	-		Myeloproliferative disorder(207;0.204)	330					Q9NZS7|Q9UG32|Q9Y4Q2	Frame_Shift_Del	DEL	ENST00000319004.5	37	c.952delG	CCDS45559.1																																																																																				0.627	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		11	82						11	82	---	---	---	---
PFN1	5216	broad.mit.edu	37	17	4850039	4850041	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:4850039_4850041delTTC	ENST00000225655.5	-	2	826_828	c.207_209delGAA	c.(205-210)cagaaa>caa	p.K70del	PFN1_ENST00000574872.1_In_Frame_Del_p.K34del	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	70					actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cell death (GO:0008219)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of ruffle assembly (GO:1900029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|proline-rich region binding (GO:0070064)			NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						CACCGAACATTTCTGGCCCCCAA	0.562																																						ENST00000225655.5																			0				NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(205-210)caa>ca		profilin 1																																				SO:0001651	inframe_deletion	5216				actin cytoskeleton organization|platelet activation|platelet degranulation	actin cytoskeleton|cytoplasm	actin binding|proline-rich region binding	g.chr17:4850039_4850041delTTC	BC057828	CCDS11061.1	17p13.2	2010-07-09			ENSG00000108518	ENSG00000108518			8881	protein-coding gene	gene with protein product		176610				3356709, 1968707	Standard	NM_005022		Approved		uc002gaa.4	P07737	OTTHUMG00000099396	ENST00000225655.5:c.207_209delGAA	17.37:g.4850039_4850041delTTC	ENSP00000225655:p.Lys70del					PFN1_ENST00000574872.1_In_Frame_Del_p.QK33del	p.QK69del	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN			2	826_828	-			69					Q53Y44	In_Frame_Del	DEL	ENST00000225655.5	37	c.207_209delGAA	CCDS11061.1																																																																																				0.562	PFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216853.1	NM_005022		22	67						22	67	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	15965099	15965099	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:15965099delG	ENST00000268712.3	-	37	5754	c.5497delC	c.(5497-5499)cagfs	p.Q1833fs	NCOR1_ENST00000395857.3_Frame_Shift_Del_p.Q417fs|NCOR1_ENST00000395851.1_Frame_Shift_Del_p.Q1849fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1833	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACATCCATCTGGGGTGCAGAA	0.532																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(5497-5499)agfs		nuclear receptor corepressor 1							58.0	62.0	61.0					17																	15965099		2203	4299	6502	SO:0001589	frameshift_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15965099delG	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5497delC	17.37:g.15965099delG	ENSP00000268712:p.Gln1833fs					NCOR1_ENST00000395857.3_Frame_Shift_Del_p.Q417fs|NCOR1_ENST00000395851.1_Frame_Shift_Del_p.Q1849fs	p.Q1833fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	37	5754	-			1833			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Frame_Shift_Del	DEL	ENST00000268712.3	37	c.5497delC	CCDS11175.1																																																																																				0.532	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		17	56						17	56	---	---	---	---
CACNB1	782	broad.mit.edu	37	17	37331578	37331579	+	Frame_Shift_Del	DEL	AT	AT	-	rs374654931		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:37331578_37331579delAT	ENST00000394303.3	-	14	1871_1872	c.1664_1665delAT	c.(1663-1665)tatfs	p.Y555fs	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	555					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTCTTCCTCATAGTCTTCTTC	0.649											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(5;100 366 38393 41452 45827)	ENST00000394303.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.(1663-1665)tfs		calcium channel, voltage-dependent, beta 1 subunit	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)																																			SO:0001589	frameshift_variant	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37331578_37331579delAT		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1664_1665delAT	17.37:g.37331578_37331579delAT	ENSP00000377840:p.Tyr555fs		OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	869	RP5-906A24.2_ENST00000579256.1_RNA	p.Y555fs	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN			14	1871_1872	-			555					A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Frame_Shift_Del	DEL	ENST00000394303.3	37	c.1664_1665delAT	CCDS42311.1																																																																																				0.649	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			10	204						10	204	---	---	---	---
LOC101927755	101927755	broad.mit.edu	37	17	58066608	58066608	+	lincRNA	DEL	T	T	-	rs200816848		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313																																						ENST00000586209.1																			0																																																			0							g.chr17:58066608delT																													17.37:g.58066608delT														0	158	+									RNA	DEL	ENST00000586209.1	37																																																																																						0.313	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			3	5						3	5	---	---	---	---
DYRK1B	9149	broad.mit.edu	37	19	40316612	40316612	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:40316612delG	ENST00000593685.1	-	11	2101	c.1633delC	c.(1633-1635)cagfs	p.Q545fs	DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.Q505fs|DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.Q545fs|DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.Q517fs			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	545					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TATCGGGGCTGGGGGGGTAAC	0.692																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1633-1635)agfs		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							22.0	28.0	26.0					19																	40316612		2161	4245	6406	SO:0001589	frameshift_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316612delG	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1633delC	19.37:g.40316612delG	ENSP00000469863:p.Gln545fs					DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.Q545fs|DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.Q505fs	p.Q545fs			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		11	2101	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		545					O75258|O75788|O75789	Frame_Shift_Del	DEL	ENST00000593685.1	37	c.1633delC	CCDS12543.1																																																																																				0.692	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		10	45						10	45	---	---	---	---
CGB5	93659	broad.mit.edu	37	19	49548414	49548414	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:49548414delG	ENST00000301408.6	+	3	687	c.361delG	c.(361-363)gggfs	p.G122fs	CGB1_ENST00000391869.3_Intron	NM_033043.1	NP_149032.1	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 5	122					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			ovary(1)|pancreas(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CACTGACTGCGGGGGTCCCAA	0.672																																						ENST00000301408.6																			0				ovary(1)|pancreas(1)	2						c.(361-363)ggfs		chorionic gonadotropin, beta polypeptide 5	Choriogonadotropin alfa(DB00097)						2.0	2.0	2.0					19																	49548414		552	1515	2067	SO:0001589	frameshift_variant	93659				apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49548414delG	X00265	CCDS12752.1	19q13.32	2008-02-05				ENSG00000189052			16452	protein-coding gene	gene with protein product		608825				6194155	Standard	NM_033043		Approved	HCG	uc002ply.3	P01233		ENST00000301408.6:c.361delG	19.37:g.49548414delG	ENSP00000301408:p.Gly122fs					CGB1_ENST00000391869.3_Intron	p.G122fs	NM_033043.1	NP_149032.1	P01233	CGHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	3	687	+		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	122					A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Frame_Shift_Del	DEL	ENST00000301408.6	37	c.361delG	CCDS12752.1																																																																																				0.672	CGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466251.1	NM_033043		9	16						9	16	---	---	---	---
EMC10	284361	broad.mit.edu	37	19	50985132	50985132	+	Intron	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:50985132delG	ENST00000334976.6	+	7	724				EMC10_ENST00000598585.1_Intron|EMC10_ENST00000376918.3_Frame_Shift_Del_p.L231fs|CTD-2545M3.2_ENST00000598194.1_RNA	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10							ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.A234fs*56(1)									ACATCATCCTGGGGGGGGCCG	0.736																																						ENST00000376918.3																			1	Insertion - Frameshift(1)	p.A234fs*56(1)	large_intestine(1)								c.(691-693)ctfs		ER membrane protein complex subunit 10			,	77,52,3703		3,0,71,2,48,1792					,	3.7	1.0			8	210,155,7453		5,1,199,6,142,3556	no	intron,codingComplex	C19orf63	NM_206538.2,NM_175063.4	,	8,1,270,8,190,5348	A1A1,A1A2,A1R,A2A2,A2R,RR		4.6687,3.3664,4.2403	,	,		287,207,11156				SO:0001627	intron_variant	284361							g.chr19:50985132delG	BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671			27609	protein-coding gene	gene with protein product	"""hematopoietic signal peptide-containing secreted 1"", ""hematopoietic signal peptide-containing membrane domain-containing 1"""	614545	"""chromosome 19 open reading frame 63"""	C19orf63		12975309, 22119785	Standard	NM_175063		Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000334976.6:c.679-274G>-	19.37:g.50985132delG						CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000598585.1_Intron|EMC10_ENST00000334976.6_Intron	p.L231fs	NM_175063.4	NP_778233.4					7	739	+								Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Frame_Shift_Del	DEL	ENST00000334976.6	37	c.693delG	CCDS12796.1																																																																																				0.736	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464760.2	NM_175063		7	5						7	5	---	---	---	---
ZNF616	90317	broad.mit.edu	37	19	52618188	52618188	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:52618188delT	ENST00000600228.1	-	4	2490	c.2229delA	c.(2227-2229)aaafs	p.K743fs	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	743					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P744fs*3(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATTTATAAGGTTTTTTGCCAG	0.393																																						ENST00000600228.1																			1	Insertion - Frameshift(1)	p.P744fs*3(1)	large_intestine(1)	breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2227-2229)aafs		zinc finger protein 616							121.0	123.0	122.0					19																	52618188		2203	4300	6503	SO:0001589	frameshift_variant	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618188delT	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2229delA	19.37:g.52618188delT	ENSP00000471000:p.Lys743fs					ZNF616_ENST00000330123.5_3'UTR	p.K743fs	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	2490	-			743					B3KRV1|Q0P658|Q658V7	Frame_Shift_Del	DEL	ENST00000600228.1	37	c.2229delA	CCDS33090.1																																																																																				0.393	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		11	85						11	85	---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	44063044	44063044	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr22:44063044delT	ENST00000262726.7	-	17	2176	c.1923delA	c.(1921-1923)aaafs	p.K641fs	EFCAB6_ENST00000396231.2_Frame_Shift_Del_p.K489fs	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	641	EF-hand 7. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CAAGAAATCGTTTTTTGAATG	0.408																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1921-1923)aafs		EF-hand calcium binding domain 6							204.0	198.0	200.0					22																	44063044		2203	4300	6503	SO:0001589	frameshift_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44063044delT	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1923delA	22.37:g.44063044delT	ENSP00000262726:p.Lys641fs					EFCAB6_ENST00000396231.2_Frame_Shift_Del_p.K489fs	p.K641fs	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			17	2176	-		Ovarian(80;0.0247)|all_neural(38;0.025)	641			EF-hand 7.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Frame_Shift_Del	DEL	ENST00000262726.7	37	c.1923delA	CCDS14049.1																																																																																				0.408	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		14	79						14	79	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3228603	3228604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:3228603_3228604insG	ENST00000217939.6	-	7	7794_7795	c.7640_7641insC	c.(7639-7641)ccgfs	p.P2547fs		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2547	Ig-like C2-type 10.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCTCGCTGATCGGGTCGTGGAA	0.634																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(7639-7641)catfs		matrix-remodelling associated 5																																				SO:0001589	frameshift_variant	25878					extracellular region		g.chrX:3228603_3228604insG	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7641dupC	X.37:g.3228606_3228606dupG	ENSP00000217939:p.Pro2547fs						p.H2547fs	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			7	7794_7795	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2547			Ig-like C2-type 10.		Q6P1M7|Q9Y3Y8	Frame_Shift_Ins	INS	ENST00000217939.6	37	c.7640_7641insC	CCDS14124.1																																																																																				0.634	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		11	5						11	5	---	---	---	---
SRPX	8406	broad.mit.edu	37	X	38020284	38020284	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:38020284delG	ENST00000378533.3	-	6	783	c.677delC	c.(676-678)ccafs	p.P226fs	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Frame_Shift_Del_p.P213fs|SRPX_ENST00000538295.1_Frame_Shift_Del_p.P226fs|SRPX_ENST00000479015.1_5'Flank|SRPX_ENST00000544439.1_Frame_Shift_Del_p.P206fs|SRPX_ENST00000432886.2_Frame_Shift_Del_p.P167fs	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	226	HYR. {ECO:0000255|PROSITE- ProRule:PRU00113}.				autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GTTGGAGCCTGGGGGGAGGCC	0.433																																						ENST00000378533.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(676-678)cafs		sushi-repeat containing protein, X-linked							75.0	69.0	71.0					X																	38020284		2202	4299	6501	SO:0001589	frameshift_variant	8406				cell adhesion	cell surface|membrane		g.chrX:38020284delG	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.677delC	X.37:g.38020284delG	ENSP00000367794:p.Pro226fs					SRPX_ENST00000544439.1_Frame_Shift_Del_p.P206fs|SRPX_ENST00000343800.6_Frame_Shift_Del_p.P213fs|SRPX_ENST00000432886.2_Frame_Shift_Del_p.P167fs|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000538295.1_Frame_Shift_Del_p.P226fs	p.P226fs	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			6	783	-			226			HYR.		A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Frame_Shift_Del	DEL	ENST00000378533.3	37	c.677delC	CCDS14245.1																																																																																				0.433	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		30	18						30	18	---	---	---	---
ZNF41	7592	broad.mit.edu	37	X	47315344	47315344	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chrX:47315344delC	ENST00000377065.4	-	4	910	c.271delG	c.(271-273)gaafs	p.E91fs	ZNF41_ENST00000313116.7_Frame_Shift_Del_p.E91fs|ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000397050.2_Frame_Shift_Del_p.E101fs	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	133	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TGTGGGGCTTCCCCCTCCAGC	0.532																																						ENST00000377065.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(271-273)aafs		zinc finger protein 41							107.0	87.0	93.0					X																	47315344		2203	4300	6503	SO:0001589	frameshift_variant	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47315344delC	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.271delG	X.37:g.47315344delC	ENSP00000366265:p.Glu91fs					ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000313116.7_Frame_Shift_Del_p.E91fs|ZNF41_ENST00000397050.2_Frame_Shift_Del_p.E101fs	p.E91fs	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN			4	910	-		all_lung(315;0.000129)	133			KRAB.		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Frame_Shift_Del	DEL	ENST00000377065.4	37	c.271delG	CCDS14279.1																																																																																				0.532	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		15	5						15	5	---	---	---	---
