#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
DSG4	147409	broad.mit.edu	37	18	28986302	28986302	+	Silent	SNP	T	T	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr18:28986302T>A	ENST00000308128.4	+	12	2034	c.1899T>A	c.(1897-1899)atT>atA	p.I633I	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Silent_p.I633I	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	633					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGCAGGGATTGGCATGATGG	0.473																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(1897-1899)atT>atA		desmoglein 4							98.0	97.0	97.0					18																	28986302		2203	4300	6503	SO:0001819	synonymous_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28986302T>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1899T>A	18.37:g.28986302T>A						RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.I633I	p.I633I	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		12	1928	+			633					A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	c.1899T>A	CCDS11897.1																																																																																				0.473	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		42	113	0	0	0	1	0	42	113				
ADAM20	8748	broad.mit.edu	37	14	70990039	70990039	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr14:70990039T>C	ENST00000256389.3	-	2	1830	c.1586A>G	c.(1585-1587)aAt>aGt	p.N529S	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	479	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GGATGTCCCATTGCACCACTC	0.433																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(1585-1587)aAt>aGt		ADAM metallopeptidase domain 20							164.0	135.0	145.0					14																	70990039		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70990039T>C	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1586A>G	14.37:g.70990039T>C	ENSP00000256389:p.Asn529Ser					RP11-486O13.4_ENST00000556646.1_lincRNA	p.N529S	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	1830	-			479			Cys-rich.		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.1586A>G	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552762	0.65425	.	.	ENSG00000134007	ENST00000256389	T	0.12039	2.72	4.45	0.584	0.17422	Blood coagulation inhibitor, Disintegrin (6);	0.422898	0.16709	U	0.202792	T	0.19805	0.0476	M	0.63428	1.95	0.21386	N	0.999704	P	0.41313	0.745	P	0.49387	0.609	T	0.08700	-1.0709	10	0.56958	D	0.05	.	5.7414	0.18096	0.0:0.1555:0.1425:0.702	.	479	O43506	ADA20_HUMAN	S	529	ENSP00000256389:N529S	ENSP00000256389:N529S	N	-	2	0	ADAM20	70059792	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	0.567000	0.23608	-0.078000	0.12730	0.455000	0.32223	AAT		0.433	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			53	69	0	0	0	1	0	53	69				
FAT4	79633	broad.mit.edu	37	4	126411235	126411235	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:126411235T>C	ENST00000394329.3	+	17	13271	c.13258T>C	c.(13258-13260)Tat>Cat	p.Y4420H	FAT4_ENST00000335110.5_Missense_Mutation_p.Y2661H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4420					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAATCAGTGGTATGCCTACAG	0.577																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(13258-13260)Tat>Cat		FAT atypical cadherin 4							128.0	124.0	125.0					4																	126411235		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411235T>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13258T>C	4.37:g.126411235T>C	ENSP00000377862:p.Tyr4420His					FAT4_ENST00000335110.5_Missense_Mutation_p.Y2661H	p.Y4420H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	13271	+			4420					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.13258T>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	12.53	1.967016	0.34754	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.74526	-0.68;-0.85	5.17	2.75	0.32379	.	0.000000	0.31821	U	0.007003	T	0.49830	0.1580	N	0.12182	0.205	0.46298	D	0.998974	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.003	T	0.25813	-1.0121	10	0.13470	T	0.59	.	7.195	0.25847	0.0:0.2462:0.0:0.7538	.	2661;4420;4419	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	H	4420;2661	ENSP00000377862:Y4420H;ENSP00000335169:Y2661H	ENSP00000335169:Y2661H	Y	+	1	0	FAT4	126630685	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	1.802000	0.38853	0.796000	0.33947	0.459000	0.35465	TAT		0.577	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		50	99	0	0	0	1	0	50	99				
OR2G2	81470	broad.mit.edu	37	1	247752350	247752350	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:247752350G>T	ENST00000320065.1	+	1	689	c.689G>T	c.(688-690)aGg>aTg	p.R230M	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCAGTGTTGAGGATTAAGTCA	0.473																																						ENST00000320065.1																			0				endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(688-690)aGg>aTg		olfactory receptor, family 2, subfamily G, member 2							153.0	144.0	147.0					1																	247752350		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752350G>T	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.689G>T	1.37:g.247752350G>T	ENSP00000326349:p.Arg230Met					RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.R230M	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	689	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		230					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.689G>T	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318499	0.23994	.	.	ENSG00000177489	ENST00000320065	T	0.00265	8.39	4.29	-3.18	0.05186	GPCR, rhodopsin-like superfamily (1);	0.569375	0.14088	N	0.342215	T	0.00524	0.0017	M	0.91561	3.22	0.09310	N	1	D	0.67145	0.996	D	0.64687	0.928	T	0.12915	-1.0529	10	0.87932	D	0	.	10.3209	0.43764	0.5759:0.0:0.4241:0.0	.	230	Q8NGZ5	OR2G2_HUMAN	M	230	ENSP00000326349:R230M	ENSP00000326349:R230M	R	+	2	0	OR2G2	245818973	0.000000	0.05858	0.003000	0.11579	0.078000	0.17371	-1.434000	0.02425	-0.480000	0.06803	0.591000	0.81541	AGG		0.473	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			65	44	1	0	4.83814e-26	1	5.26147e-26	65	44				
DCUN1D3	123879	broad.mit.edu	37	16	20871683	20871683	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr16:20871683A>C	ENST00000324344.4	-	3	725	c.440T>G	c.(439-441)tTt>tGt	p.F147C	DCUN1D3_ENST00000563934.1_Missense_Mutation_p.F147C|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	147	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.				negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		GCCATCAAAAAACTCCTTCCT	0.393																																						ENST00000324344.3																			0				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14						c.(439-441)tTt>tGt		DCN1, defective in cullin neddylation 1, domain containing 3							45.0	47.0	46.0					16																	20871683		2196	4297	6493	SO:0001583	missense	123879				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm		g.chr16:20871683A>C	BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"""			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.440T>G	16.37:g.20871683A>C	ENSP00000319482:p.Phe147Cys					DCUN1D3_ENST00000563934.1_Missense_Mutation_p.F147C|ERI2_ENST00000564349.1_Intron	p.F147C	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN		GBM - Glioblastoma multiforme(48;0.249)	3	725	-			147			DCUN1.		B3KVY4	Missense_Mutation	SNP	ENST00000324344.4	37	c.440T>G	CCDS10592.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.012233	0.75046	.	.	ENSG00000188215	ENST00000324344	D	0.94280	-3.39	5.92	5.92	0.95590	Domain of unknown function DUF298 (1);	0.000000	0.85682	D	0.000000	D	0.97595	0.9212	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98438	1.0585	10	0.66056	D	0.02	-11.41	16.3662	0.83325	1.0:0.0:0.0:0.0	.	147	Q8IWE4	DCNL3_HUMAN	C	147	ENSP00000319482:F147C	ENSP00000319482:F147C	F	-	2	0	DCUN1D3	20779184	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.274000	0.75844	0.533000	0.62120	TTT		0.393	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	NM_173475		17	27	0	0	0	1	0	17	27				
CPA4	51200	broad.mit.edu	37	7	129962408	129962408	+	Silent	SNP	C	C	T	rs143728099	byFrequency	TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr7:129962408C>T	ENST00000222482.4	+	11	1186	c.1158C>T	c.(1156-1158)acC>acT	p.T386T	CPA4_ENST00000493259.1_Silent_p.T282T|CPA4_ENST00000445470.2_Silent_p.T353T	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	386					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TGAGAGATACCGGGACCTATG	0.537													C|||	8	0.00159744	0.0	0.0014	5008	,	,		21870	0.0		0.0	False		,,,				2504	0.0072					ENST00000222482.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1156-1158)acC>acT		carboxypeptidase A4		C	,	1,4405	2.1+/-5.4	0,1,2202	177.0	160.0	166.0		1059,1158	-10.2	0.1	7	dbSNP_134	166	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous	CPA4	NM_001163446.1,NM_016352.3	,	0,7,6496	TT,TC,CC		0.0698,0.0227,0.0538	,	353/389,386/422	129962408	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	51200				histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129962408C>T	AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"""carboxypeptidase A3"""	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.1158C>T	7.37:g.129962408C>T						CPA4_ENST00000445470.2_Silent_p.T353T|CPA4_ENST00000493259.1_Silent_p.T282T	p.T386T	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN			11	1186	+	Melanoma(18;0.0435)		386					B7Z576|Q86UY9	Silent	SNP	ENST00000222482.4	37	c.1158C>T	CCDS5818.1																																																																																				0.537	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1	NM_016352		45	62	0	0	0	1	0	45	62				
OR2G2	81470	broad.mit.edu	37	1	247752061	247752061	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:247752061C>A	ENST00000320065.1	+	1	400	c.400C>A	c.(400-402)Cat>Aat	p.H134N	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCGTCCTCTCCATTACACTGT	0.547																																						ENST00000320065.1																			0				endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(400-402)Cat>Aat		olfactory receptor, family 2, subfamily G, member 2							286.0	236.0	253.0					1																	247752061		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752061C>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.400C>A	1.37:g.247752061C>A	ENSP00000326349:p.His134Asn					RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.H134N	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	400	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		134					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.400C>A	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530829	0.27387	.	.	ENSG00000177489	ENST00000320065	T	0.01323	5.01	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	1.061520	0.07542	U	0.914001	T	0.05777	0.0151	M	0.90870	3.155	0.09310	N	1	B	0.14012	0.009	B	0.16289	0.015	T	0.33240	-0.9876	10	0.72032	D	0.01	.	14.3294	0.66545	0.0:1.0:0.0:0.0	.	134	Q8NGZ5	OR2G2_HUMAN	N	134	ENSP00000326349:H134N	ENSP00000326349:H134N	H	+	1	0	OR2G2	245818684	0.236000	0.23804	0.069000	0.20011	0.627000	0.37826	2.393000	0.44442	2.206000	0.71126	0.591000	0.81541	CAT		0.547	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			46	185	1	0	8.48111e-28	1	9.33995e-28	46	185				
TRIM56	81844	broad.mit.edu	37	7	100730605	100730605	+	Silent	SNP	C	C	T	rs191231311		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr7:100730605C>T	ENST00000306085.6	+	3	309	c.12C>T	c.(10-12)caC>caT	p.H4H		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	4					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)					TGGTTTCCCACGGGTCCTCGC	0.637													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17355	0.0		0.0	False		,,,				2504	0.0				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.(10-12)caC>caT		tripartite motif containing 56							93.0	106.0	102.0					7																	100730605		2097	4219	6316	SO:0001819	synonymous_variant	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.chr7:100730605C>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.12C>T	7.37:g.100730605C>T							p.H4H	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN			3	309	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	37	c.12C>T	CCDS43625.1																																																																																				0.637	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		8	130	0	0	0	1	0	8	130				
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	11	0	0	0	1	0	7	11				
EQTN	54586	broad.mit.edu	37	9	27284786	27284786	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr9:27284786T>C	ENST00000380032.3	-	8	903	c.820A>G	c.(820-822)Acg>Gcg	p.T274A	LINC00032_ENST00000425633.1_lincRNA|EQTN_ENST00000537675.1_Missense_Mutation_p.T245A	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	274			T -> K (in dbSNP:rs41305329). {ECO:0000269|PubMed:11118625}.		acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)											ATGATATCCGTCATTATCTTA	0.408																																						ENST00000380032.3																			0											c.(820-822)Acg>Gcg		equatorin, sperm acrosome associated							151.0	133.0	139.0					9																	27284786		2203	4300	6503	SO:0001583	missense	54586							g.chr9:27284786T>C	AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"""Acr formation associated factor"", ""Acrosome formation associated factor"", ""sperm acrosome associated 8"""		"""chromosome 9 open reading frame 11"", ""equatorin"""	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.820A>G	9.37:g.27284786T>C	ENSP00000369371:p.Thr274Ala					EQTN_ENST00000537675.1_Missense_Mutation_p.T245A	p.T274A	NM_020641.2	NP_065692.2					8	903	-								B2RPB3|B7ZMK1|Q5TCU1|Q96L22	Missense_Mutation	SNP	ENST00000380032.3	37	c.820A>G	CCDS35001.1	.	.	.	.	.	.	.	.	.	.	.	9.349	1.064942	0.20067	.	.	ENSG00000120160	ENST00000537675;ENST00000380032	T;T	0.32272	1.46;1.87	3.79	-1.36	0.09085	.	0.985071	0.08286	N	0.969176	T	0.13500	0.0327	N	0.08118	0	0.09310	N	1	B;B	0.22346	0.028;0.068	B;B	0.17722	0.019;0.019	T	0.25710	-1.0124	10	0.66056	D	0.02	.	3.0561	0.06184	0.1894:0.3234:0.0:0.4872	.	245;274	B7ZMK1;Q9NQ60	.;AFAF_HUMAN	A	245;274	ENSP00000441630:T245A;ENSP00000369371:T274A	ENSP00000369371:T274A	T	-	1	0	C9orf11	27274786	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.042000	0.12063	-0.257000	0.09459	-0.451000	0.05528	ACG		0.408	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055499.1	NM_020641		42	58	0	0	0	1	0	42	58				
INHBA	3624	broad.mit.edu	37	7	41739744	41739744	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr7:41739744G>A	ENST00000242208.4	-	2	475	c.229C>T	c.(229-231)Ccg>Tcg	p.P77S	INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000420821.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000422822.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.P77S	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	77					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|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)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TTGGGTACCGGCTGGGTGACA	0.532										TSP Lung(11;0.080)																												ENST00000242208.4																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(229-231)Ccg>Tcg		inhibin, beta A							265.0	285.0	278.0					7																	41739744		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|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|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41739744G>A		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.229C>T	7.37:g.41739744G>A	ENSP00000242208:p.Pro77Ser	TSP Lung(11;0.080)				INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000422822.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.P77S|INHBA-AS1_ENST00000415848.2_RNA|AC005027.3_ENST00000416150.1_RNA	p.P77S	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN			2	475	-			77					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.229C>T	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962296	0.74016	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.62639	0.01;0.01	5.49	5.49	0.81192	Transforming growth factor-beta, N-terminal (1);	0.112267	0.64402	D	0.000007	T	0.69260	0.3091	M	0.64170	1.965	0.58432	D	0.999992	P	0.52692	0.955	P	0.54889	0.763	T	0.64829	-0.6315	10	0.21540	T	0.41	-19.4467	14.246	0.65988	0.0:0.0:0.851:0.149	.	77	P08476	INHBA_HUMAN	S	77	ENSP00000242208:P77S;ENSP00000397197:P77S	ENSP00000242208:P77S	P	-	1	0	INHBA	41706269	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.487000	0.60293	2.576000	0.86940	0.655000	0.94253	CCG		0.532	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			5	425	0	0	0	1	0	5	425				
DDX60	55601	broad.mit.edu	37	4	169145434	169145434	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:169145434T>C	ENST00000393743.3	-	35	5075	c.4784A>G	c.(4783-4785)aAc>aGc	p.N1595S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1595					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATCATCAAAGTTCCCAGACAG	0.368																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(4783-4785)aAc>aGc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							106.0	102.0	103.0					4																	169145434		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169145434T>C	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.4784A>G	4.37:g.169145434T>C	ENSP00000377344:p.Asn1595Ser						p.N1595S	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	35	5075	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1595					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.4784A>G	CCDS34097.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.41|11.41	1.629663|1.629663	0.28978|0.28978	.|.	.|.	ENSG00000137628|ENSG00000137628	ENST00000393743|ENST00000511317	T|.	0.17691|.	2.26|.	5.77|5.77	-0.166|-0.166	0.13351|0.13351	.|.	0.572643|.	0.17091|.	N|.	0.187361|.	T|T	0.58380|0.58380	0.2118|0.2118	M|M	0.80028|0.80028	2.48|2.48	0.09310|0.09310	N|N	1|1	D;D|.	0.59357|.	0.985;0.96|.	P;P|.	0.53649|.	0.731;0.645|.	T|T	0.55068|0.55068	-0.8198|-0.8198	10|5	0.22109|.	T|.	0.4|.	.|.	11.7297|11.7297	0.51730|0.51730	0.4753:0.0:0.0:0.5247|0.4753:0.0:0.0:0.5247	.|.	1595;87|.	Q8IY21;Q9NT91|.	DDX60_HUMAN;.|.	S|A	1595|88	ENSP00000377344:N1595S|.	ENSP00000377344:N1595S|.	N|T	-|-	2|1	0|0	DDX60|DDX60	169382009|169382009	0.004000|0.004000	0.15560|0.15560	0.573000|0.573000	0.28510|0.28510	0.004000|0.004000	0.04260|0.04260	-0.075000|-0.075000	0.11431|0.11431	0.088000|0.088000	0.17205|0.17205	-0.624000|-0.624000	0.04008|0.04008	AAC|ACT		0.368	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		13	29	0	0	0	1	0	13	29				
SNHG14	104472715	broad.mit.edu	37	15	25490697	25490697	+	RNA	SNP	G	G	A	rs200876388		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr15:25490697G>A	ENST00000453082.2	+	0	2719				SNORD115-40_ENST00000606510.1_RNA|SNORD115-41_ENST00000363608.1_RNA|SNORD115-42_ENST00000364273.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATAGGATTACGCTGAGGCCCA	0.498																																						ENST00000453082.2																			0																				449.0	434.0	439.0					15																	25490697		876	1991	2867			0							g.chr15:25490697G>A			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.25490697G>A						SNORD115-41_ENST00000363608.1_RNA		NR_003343.1						0	2719	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.498	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			6	385	0	0	0	1	0	6	385				
RC3H2	54542	broad.mit.edu	37	9	125652610	125652610	+	Silent	SNP	T	T	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr9:125652610T>A	ENST00000373670.1	-	3	1164	c.564A>T	c.(562-564)ggA>ggT	p.G188G	RC3H2_ENST00000357244.2_Silent_p.G188G|RC3H2_ENST00000373665.2_Silent_p.G188G|RC3H2_ENST00000471874.2_Silent_p.G188G|RC3H2_ENST00000335387.5_Silent_p.G188G|RC3H2_ENST00000478216.1_5'UTR|RC3H2_ENST00000423239.2_Silent_p.G188G			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	188	ROQ.				B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AAAACTGGCATCCTCGAGCCC	0.473																																						ENST00000373670.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(562-564)ggA>ggT		ring finger and CCCH-type domains 2							55.0	55.0	55.0					9																	125652610		1900	4120	6020	SO:0001819	synonymous_variant	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125652610T>A	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.564A>T	9.37:g.125652610T>A						RC3H2_ENST00000471874.2_Silent_p.G188G|RC3H2_ENST00000423239.2_Silent_p.G188G|RC3H2_ENST00000478216.1_5'UTR|RC3H2_ENST00000373665.2_Silent_p.G188G|RC3H2_ENST00000335387.5_Silent_p.G188G|RC3H2_ENST00000357244.2_Silent_p.G188G	p.G188G			Q9HBD1	RC3H2_HUMAN			3	1164	-			188					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Silent	SNP	ENST00000373670.1	37	c.564A>T	CCDS43874.1																																																																																				0.473	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		4	39	0	0	0	1	0	4	39				
HNF4A	3172	broad.mit.edu	37	20	43052756	43052756	+	Missense_Mutation	SNP	C	C	T	rs193922479		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr20:43052756C>T	ENST00000316099.4	+	8	1080	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	HNF4A_ENST00000457232.1_Missense_Mutation_p.R309C|HNF4A_ENST00000443598.2_Missense_Mutation_p.R331C|HNF4A_ENST00000609795.1_Missense_Mutation_p.R309C|HNF4A_ENST00000415691.2_Missense_Mutation_p.R331C|HNF4A_ENST00000316673.4_Missense_Mutation_p.R309C|AL132772.1_ENST00000581483.1_RNA	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	331					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R331G(2)|p.R309G(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GTATGACTCGCGTGGCCGCTT	0.592																																					Colon(79;2 1269 8820 14841 52347)	ENST00000316099.3																			3	Substitution - Missense(3)	p.R331G(2)|p.R309G(1)	endometrium(3)	endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34	GRCh37	CM064051	HNF4A	M		c.(991-993)Cgt>Tgt		hepatocyte nuclear factor 4, alpha							35.0	25.0	28.0					20																	43052756		2200	4291	6491	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43052756C>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.991C>T	20.37:g.43052756C>T	ENSP00000312987:p.Arg331Cys					HNF4A_ENST00000457232.1_Missense_Mutation_p.R309C|HNF4A_ENST00000415691.1_Missense_Mutation_p.R331C|HNF4A_ENST00000443598.2_Missense_Mutation_p.R331C	p.R331C	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		8	1080	+		Myeloproliferative disorder(115;0.0122)	331					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.991C>T	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817901	0.50633	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21;-4.21	5.4	5.4	0.78164	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.242500	0.42420	D	0.000710	D	0.96725	0.8931	M	0.83852	2.665	0.80722	D	1	P;P;P;P;P;P;B	0.51147	0.942;0.672;0.672;0.865;0.942;0.783;0.265	P;B;B;B;P;B;B	0.49047	0.599;0.274;0.274;0.317;0.599;0.237;0.072	D	0.96573	0.9424	10	0.56958	D	0.05	.	12.7998	0.57580	0.2863:0.7137:0.0:0.0	.	324;331;331;331;309;309;309	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	C	309;309;331;331;361;331	ENSP00000315180:R309C;ENSP00000396216:R309C;ENSP00000312987:R331C;ENSP00000410911:R331C;ENSP00000412111:R331C	ENSP00000312987:R331C	R	+	1	0	HNF4A	42486170	0.998000	0.40836	0.113000	0.21522	0.659000	0.38960	3.757000	0.55212	2.515000	0.84797	0.563000	0.77884	CGT		0.592	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			7	10	0	0	0	1	0	7	10				
PTPRH	5794	broad.mit.edu	37	19	55716930	55716930	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr19:55716930T>C	ENST00000376350.3	-	4	405	c.383A>G	c.(382-384)gAg>gGg	p.E128G	PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	128	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGTCTGAGCCTCCACTCTCAG	0.572																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(382-384)gAg>gGg		protein tyrosine phosphatase, receptor type, H							92.0	75.0	80.0					19																	55716930		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55716930T>C		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.383A>G	19.37:g.55716930T>C	ENSP00000365528:p.Glu128Gly					PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron	p.E128G	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	4	405	-		Renal(1328;0.245)	128			Fibronectin type-III 2.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.383A>G	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	T	7.525	0.657577	0.14645	.	.	ENSG00000080031	ENST00000376350	T	0.58506	0.33	3.73	-0.231	0.13086	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.042410	0.07729	N	0.944865	T	0.48409	0.1498	L	0.55481	1.735	0.09310	N	1	P	0.37914	0.611	B	0.37198	0.243	T	0.34551	-0.9824	10	0.25106	T	0.35	.	6.7099	0.23272	0.5962:0.0:0.0:0.4038	.	128	Q9HD43	PTPRH_HUMAN	G	128	ENSP00000365528:E128G	ENSP00000365528:E128G	E	-	2	0	PTPRH	60408742	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.231000	0.09069	0.080000	0.16959	0.329000	0.21502	GAG		0.572	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			16	32	0	0	0	1	0	16	32				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		4	13	1	0	2.56e-06	1	2.58977e-06	4	13				
OR4C15	81309	broad.mit.edu	37	11	55322062	55322062	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr11:55322062A>G	ENST00000314644.2	+	1	280	c.280A>G	c.(280-282)Aac>Gac	p.N94D		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	40						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(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGTTGGGGGCAACATGCTAAT	0.438										HNSCC(20;0.049)																												ENST00000314644.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(280-282)Aac>Gac		olfactory receptor, family 4, subfamily C, member 15							156.0	133.0	141.0					11																	55322062		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322062A>G	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.280A>G	11.37:g.55322062A>G	ENSP00000324958:p.Asn94Asp	HNSCC(20;0.049)					p.N94D	NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN			1	280	+			40					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.280A>G	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118758	0.77323	.	.	ENSG00000181939	ENST00000314644	T	0.75704	-0.96	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.91202	0.7228	H	0.98980	4.39	0.33561	D	0.597394	D	0.76494	0.999	D	0.70227	0.968	D	0.96063	0.9040	9	0.87932	D	0	.	12.9048	0.58145	1.0:0.0:0.0:0.0	.	40	Q8NGM1	OR4CF_HUMAN	D	94	ENSP00000324958:N94D	ENSP00000324958:N94D	N	+	1	0	OR4C15	55078638	0.999000	0.42202	0.709000	0.30452	0.866000	0.49608	5.699000	0.68310	2.152000	0.67230	0.317000	0.21355	AAC		0.438	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		12	146	0	0	0	1	0	12	146				
MYLK	4638	broad.mit.edu	37	3	123366171	123366171	+	Missense_Mutation	SNP	G	G	A	rs142010566		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr3:123366171G>A	ENST00000475616.1	-	24	4518	c.4519C>T	c.(4519-4521)Cgg>Tgg	p.R1507W	MYLK_ENST00000354792.5_Missense_Mutation_p.R307W|MYLK_ENST00000360772.3_Missense_Mutation_p.R1507W|MYLK_ENST00000346322.5_Missense_Mutation_p.R1438W|MYLK_ENST00000359169.1_Missense_Mutation_p.R1507W|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.R1507W			Q15746	MYLK_HUMAN	myosin light chain kinase	1507	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ATCTCCTGCCGGATATTCTCT	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		22487	0.001		0.0	False		,,,				2504	0.0					ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(4519-4521)Cgg>Tgg		myosin light chain kinase							141.0	123.0	129.0					3																	123366171		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123366171G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4519C>T	3.37:g.123366171G>A	ENSP00000418335:p.Arg1507Trp					MYLK_ENST00000475616.1_Missense_Mutation_p.R1507W|MYLK_ENST00000354792.5_Missense_Mutation_p.R307W|MYLK_ENST00000346322.5_Missense_Mutation_p.R1438W|MYLK_ENST00000360304.3_Missense_Mutation_p.R1507W|MYLK_ENST00000359169.1_Missense_Mutation_p.R1507W	p.R1507W			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	28	4897	-		Lung NSC(201;0.0496)	1507			Protein kinase.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.4519C>T	CCDS46896.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.85	3.903822	0.72754	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.38	3.5	0.40072	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.79661	0.4484	M	0.71581	2.175	0.53005	D	0.999968	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79784	0.951;0.993;0.976;0.993;0.981	T	0.80837	-0.1204	9	0.87932	D	0	.	13.6084	0.62061	0.0:0.0:0.5224:0.4776	.	1507;1438;1507;1438;1507	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	W	1507;1507;1507;1438;307;1507	ENSP00000354004:R1507W;ENSP00000353452:R1507W;ENSP00000352088:R1507W;ENSP00000320622:R1438W;ENSP00000346846:R307W;ENSP00000418335:R1507W	ENSP00000320622:R1438W	R	-	1	2	MYLK	124848861	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.209000	0.42806	0.559000	0.29153	0.655000	0.94253	CGG		0.458	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		4	62	0	0	0	1	0	4	62				
TERT	7015	broad.mit.edu	37	5	1268645	1268645	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:1268645G>A	ENST00000310581.5	-	9	2629	c.2572C>T	c.(2572-2574)Cgg>Tgg	p.R858W	TERT_ENST00000508104.2_Missense_Mutation_p.S797L|TERT_ENST00000296820.5_Missense_Mutation_p.S797L|TERT_ENST00000334602.6_Missense_Mutation_p.R858W	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	858	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CCGTCCCGCCGAATCCCCGCA	0.602									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(2572-2574)Cgg>Tgg		telomerase reverse transcriptase							50.0	48.0	49.0					5																	1268645		2203	4300	6503	SO:0001583	missense	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1268645G>A	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2572C>T	5.37:g.1268645G>A	ENSP00000309572:p.Arg858Trp					TERT_ENST00000334602.6_Missense_Mutation_p.R858W|TERT_ENST00000508104.2_Missense_Mutation_p.S797L|TERT_ENST00000296820.5_Missense_Mutation_p.S797L	p.R858W	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		9	2629	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		858			Reverse transcriptase.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.2572C>T	CCDS3861.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.934|5.934	0.356328|0.356328	0.11239|0.11239	.|.	.|.	ENSG00000164362|ENSG00000164362	ENST00000310581;ENST00000334602|ENST00000296820;ENST00000508104	D;D|D;D	0.98090|0.96802	-4.71;-4.71|-4.13;-4.13	3.96|3.96	3.08|3.08	0.35506|0.35506	Reverse transcriptase (2);|.	0.722607|.	0.13465|.	N|.	0.385845|.	D|D	0.91506|0.91506	0.7318|0.7318	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	0.999992|0.999992	D;D|.	0.76494|.	0.996;0.999|.	B;P|.	0.59703|.	0.431;0.862|.	T|T	0.78378|0.78378	-0.2227|-0.2227	10|7	0.72032|0.02654	D|T	0.01|1	-19.0126|-19.0126	11.071|11.071	0.48004|0.48004	0.0:0.1889:0.8111:0.0|0.0:0.1889:0.8111:0.0	.|.	858;858|.	O14746-3;O14746|.	.;TERT_HUMAN|.	W|L	858|797	ENSP00000309572:R858W;ENSP00000334346:R858W|ENSP00000296820:S797L;ENSP00000426042:S797L	ENSP00000309572:R858W|ENSP00000296820:S797L	R|S	-|-	1|2	2|0	TERT|TERT	1321645|1321645	0.986000|0.986000	0.35501|0.35501	0.073000|0.073000	0.20177|0.20177	0.049000|0.049000	0.14656|0.14656	1.885000|1.885000	0.39678|0.39678	0.771000|0.771000	0.33359|0.33359	0.561000|0.561000	0.74099|0.74099	CGG|TCG		0.602	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			15	27	0	0	0	1	0	15	27				
SYNDIG1L	646658	broad.mit.edu	37	14	74876137	74876137	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr14:74876137T>A	ENST00000554823.1	-	1	372	c.311A>T	c.(310-312)cAg>cTg	p.Q104L	SYNDIG1L_ENST00000331628.3_Missense_Mutation_p.Q104L			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	104					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						TCCTGTGGGCTGCTCTGGAGG	0.617																																						ENST00000331628.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						c.(310-312)cAg>cTg		synapse differentiation inducing 1-like							57.0	61.0	60.0					14																	74876137		1985	4166	6151	SO:0001583	missense	646658				response to biotic stimulus	Golgi apparatus|integral to membrane		g.chr14:74876137T>A		CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"""caudate-and putamen-enriched sequence"", ""interferon induced transmembrane protein domain containing 4"""	609999	"""transmembrane protein 90A"""	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.311A>T	14.37:g.74876137T>A	ENSP00000450439:p.Gln104Leu					SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.Q104L	p.Q104L	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN			2	558	-			104						Missense_Mutation	SNP	ENST00000554823.1	37	c.311A>T	CCDS41970.1	.	.	.	.	.	.	.	.	.	.	T	0.311	-0.967865	0.02232	.	.	ENSG00000183379	ENST00000331628;ENST00000554823	D;D	0.95342	-3.68;-3.68	4.63	0.16	0.14972	.	0.860782	0.10425	N	0.676190	D	0.83608	0.5291	N	0.03608	-0.345	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.71199	-0.4663	10	0.18710	T	0.47	-7.8586	8.6566	0.34066	0.0:0.2946:0.0:0.7054	.	104	A6NDD5	SYN1L_HUMAN	L	104	ENSP00000331474:Q104L;ENSP00000450439:Q104L	ENSP00000331474:Q104L	Q	-	2	0	SYNDIG1L	73945890	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.332000	0.07904	0.096000	0.17463	0.383000	0.25322	CAG		0.617	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412341.1	XM_938515		33	56	0	0	0	1	0	33	56				
MTNR1B	4544	broad.mit.edu	37	11	92714787	92714787	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr11:92714787C>T	ENST00000257068.2	+	2	404	c.398C>T	c.(397-399)gCc>gTc	p.A133V		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	133					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	AATATCACTGCCATCGCCATT	0.597																																						ENST00000257068.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(397-399)gCc>gTc		melatonin receptor 1B	Ramelteon(DB00980)						139.0	122.0	128.0					11																	92714787		2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92714787C>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.398C>T	11.37:g.92714787C>T	ENSP00000257068:p.Ala133Val						p.A133V	NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN			2	404	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	133						Missense_Mutation	SNP	ENST00000257068.2	37	c.398C>T	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896955	0.52121	.	.	ENSG00000134640	ENST00000257068	T	0.38401	1.14	3.97	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	0.133787	0.50627	N	0.000112	T	0.44222	0.1283	M	0.62209	1.925	0.36479	D	0.867735	P	0.52061	0.95	P	0.57283	0.817	T	0.46386	-0.9195	10	0.34782	T	0.22	-14.1024	5.9204	0.19078	0.0:0.6713:0.1564:0.1723	.	133	P49286	MTR1B_HUMAN	V	133	ENSP00000257068:A133V	ENSP00000257068:A133V	A	+	2	0	MTNR1B	92354435	0.997000	0.39634	0.879000	0.34478	0.629000	0.37895	2.043000	0.41231	0.465000	0.27167	-0.339000	0.08088	GCC		0.597	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			20	44	0	0	0	1	0	20	44				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	30	0	0	0	1	0	3	30				
MUC7	4589	broad.mit.edu	37	4	71347515	71347515	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:71347515G>T	ENST00000304887.5	+	3	1244	c.1054G>T	c.(1054-1056)Ggc>Tgc	p.G352C	MUC7_ENST00000413702.1_Missense_Mutation_p.G352C|MUC7_ENST00000456088.1_Missense_Mutation_p.G352C	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	352					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TTCAGCTCCTGGCCAAAATAA	0.373																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1054-1056)Ggc>Tgc		mucin 7, secreted							89.0	96.0	94.0					4																	71347515		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347515G>T	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.1054G>T	4.37:g.71347515G>T	ENSP00000302021:p.Gly352Cys					MUC7_ENST00000304887.5_Missense_Mutation_p.G352C|MUC7_ENST00000456088.1_Missense_Mutation_p.G352C	p.G352C	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	1342	+			352					Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.1054G>T	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	G	6.752	0.507545	0.12883	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.59224	0.28;0.28;0.28	2.92	-5.43	0.02632	.	.	.	.	.	T	0.30355	0.0762	N	0.08118	0	0.09310	N	1	D	0.53619	0.961	B	0.43950	0.437	T	0.28713	-1.0035	8	.	.	.	.	5.3468	0.16014	0.3491:0.1837:0.4672:0.0	.	352	Q8TAX7	MUC7_HUMAN	C	352	ENSP00000407422:G352C;ENSP00000400585:G352C;ENSP00000302021:G352C	.	G	+	1	0	MUC7	71382104	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.304000	0.01134	-0.978000	0.03533	-1.079000	0.02226	GGC		0.373	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		25	41	1	0	4.81078e-24	1	5.16713e-24	25	41				
HOOK1	51361	broad.mit.edu	37	1	60314160	60314160	+	Missense_Mutation	SNP	G	G	A	rs143143349		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:60314160G>A	ENST00000371208.3	+	11	1360	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.R326H	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	368	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AATGCAGCACGTACACAATTA	0.308													G|||	1	0.000199681	0.0	0.0	5008	,	,		18313	0.001		0.0	False		,,,				2504	0.0					ENST00000371208.3																			0				biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29						c.(1102-1104)cGt>cAt		hook microtubule-tethering protein 1		G	HIS/ARG	0,4406		0,0,2203	68.0	72.0	71.0		1103	5.9	1.0	1	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense	HOOK1	NM_015888.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	368/729	60314160	1,13005	2203	4300	6503	SO:0001583	missense	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60314160G>A	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1103G>A	1.37:g.60314160G>A	ENSP00000360252:p.Arg368His					HOOK1_ENST00000395561.2_Missense_Mutation_p.R326H|HOOK1_ENST00000465876.1_3'UTR	p.R368H	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN			11	1360	+	all_cancers(7;0.000129)		368			Sufficient for interaction with microtubules.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	c.1103G>A	CCDS612.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	28.2	4.903201	0.92035	0.0	1.16E-4	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.24538	1.85;1.85	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.51568	0.1682	M	0.74258	2.255	0.80722	D	1	D	0.69078	0.997	P	0.60886	0.88	T	0.50180	-0.8858	10	0.66056	D	0.02	.	20.2956	0.98549	0.0:0.0:1.0:0.0	.	368	Q9UJC3	HOOK1_HUMAN	H	368;326	ENSP00000360252:R368H;ENSP00000378928:R326H	ENSP00000360252:R368H	R	+	2	0	HOOK1	60086748	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	7.353000	0.79414	2.805000	0.96524	0.460000	0.39030	CGT		0.308	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		5	62	0	0	0	1	0	5	62				
USP34	9736	broad.mit.edu	37	2	61622338	61622338	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr2:61622338C>T	ENST00000398571.2	-	4	659	c.583G>A	c.(583-585)Ggg>Agg	p.G195R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	195					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CAGAATGCCCCTAATATGTTA	0.224																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(583-585)Ggg>Agg		ubiquitin specific peptidase 34							34.0	32.0	33.0					2																	61622338		1766	4005	5771	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61622338C>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.583G>A	2.37:g.61622338C>T	ENSP00000381577:p.Gly195Arg						p.G195R	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		4	659	-			195					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.583G>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044463	0.93685	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.14266	2.52	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.26702	0.0653	L	0.55481	1.735	0.80722	D	1	D	0.54047	0.964	P	0.51101	0.659	T	0.00245	-1.1882	10	0.59425	D	0.04	.	19.7723	0.96370	0.0:1.0:0.0:0.0	.	195	Q70CQ2	UBP34_HUMAN	R	43;43;195	ENSP00000381577:G195R	ENSP00000263989:G43R	G	-	1	0	USP34	61475842	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.356000	0.79445	2.674000	0.91012	0.579000	0.79373	GGG		0.224	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			8	30	0	0	0	1	0	8	30				
ACSM2B	348158	broad.mit.edu	37	16	20570701	20570701	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr16:20570701A>C	ENST00000329697.6	-	3	414	c.246T>G	c.(244-246)aaT>aaG	p.N82K	ACSM2B_ENST00000414188.2_Missense_Mutation_p.N82K|ACSM2B_ENST00000567001.1_Missense_Mutation_p.N82K|ACSM2B_ENST00000565232.1_Missense_Mutation_p.N82K|ACSM2B_ENST00000565322.1_Missense_Mutation_p.N3K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	82					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GTTCTCTGAAATTCCACATTA	0.577																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(244-246)aaT>aaG		acyl-CoA synthetase medium-chain family member 2B							46.0	40.0	42.0					16																	20570701		2200	4285	6485	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20570701A>C	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.246T>G	16.37:g.20570701A>C	ENSP00000327453:p.Asn82Lys					ACSM2B_ENST00000565322.1_Missense_Mutation_p.N3K|ACSM2B_ENST00000565232.1_Missense_Mutation_p.N82K|ACSM2B_ENST00000414188.2_Missense_Mutation_p.N82K|ACSM2B_ENST00000567001.1_Missense_Mutation_p.N82K	p.N82K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			3	414	-			82					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.246T>G	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	A	12.44	1.937898	0.34189	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.49720	0.77;0.77	3.51	0.191	0.15130	.	0.288637	0.24620	N	0.036969	T	0.47985	0.1475	L	0.46157	1.445	0.25186	N	0.990161	D;D	0.63046	0.992;0.992	P;P	0.54346	0.749;0.749	T	0.41645	-0.9497	10	0.87932	D	0	-17.7799	8.2509	0.31717	0.3001:0.0:0.6999:0.0	.	82;82	A8K051;Q68CK6	.;ACS2B_HUMAN	K	82	ENSP00000327453:N82K;ENSP00000390378:N82K	ENSP00000327453:N82K	N	-	3	2	ACSM2B	20478202	1.000000	0.71417	0.782000	0.31804	0.032000	0.12392	1.666000	0.37460	0.178000	0.19917	-0.231000	0.12243	AAT		0.577	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		9	10	0	0	0	1	0	9	10				
GPR111	222611	broad.mit.edu	37	6	47647822	47647822	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr6:47647822G>T	ENST00000296862.1	+	5	487	c.487G>T	c.(487-489)Gtt>Ttt	p.V163F	GPR111_ENST00000398742.2_Missense_Mutation_p.V95F|GPR111_ENST00000507065.1_Missense_Mutation_p.V95F			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	163					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(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTCACGTTTGGTTCAGCCATT	0.308																																						ENST00000398742.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(283-285)Gtt>Ttt		G protein-coupled receptor 111							55.0	51.0	52.0					6																	47647822		1794	4066	5860	SO:0001583	missense	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47647822G>T	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.487G>T	6.37:g.47647822G>T	ENSP00000296862:p.Val163Phe					GPR111_ENST00000296862.1_Missense_Mutation_p.V163F|GPR111_ENST00000507065.1_Missense_Mutation_p.V95F	p.V95F			Q8IZF7	GP111_HUMAN			4	332	+			163					Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37	c.283G>T		.	.	.	.	.	.	.	.	.	.	G	8.252	0.809162	0.16537	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.22336	1.96;1.96;1.96	4.23	-1.89	0.07689	.	1.393810	0.05076	N	0.482464	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.13407	0.009;0.002	T	0.40887	-0.9539	10	0.15066	T	0.55	.	5.2355	0.15445	0.4048:0.0:0.4622:0.133	.	95;163	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	F	95;163;95	ENSP00000422934:V95F;ENSP00000296862:V163F;ENSP00000381727:V95F	ENSP00000296862:V163F	V	+	1	0	GPR111	47755781	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.303000	0.08210	-0.400000	0.07656	0.551000	0.68910	GTT		0.308	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		11	23	1	0	1.58986e-06	1	1.62727e-06	11	23				
OR10H2	26538	broad.mit.edu	37	19	15839146	15839146	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr19:15839146C>T	ENST00000305899.3	+	1	313	c.293C>T	c.(292-294)gCc>gTc	p.A98V		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A98D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CTGGCCTGTGCCAGTCAGATG	0.632																																						ENST00000305899.3																			1	Substitution - Missense(1)	p.A98D(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(292-294)gCc>gTc		olfactory receptor, family 10, subfamily H, member 2							62.0	57.0	59.0					19																	15839146		2202	4278	6480	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839146C>T	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.293C>T	19.37:g.15839146C>T	ENSP00000306095:p.Ala98Val						p.A98V	NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN			1	313	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		98					Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.293C>T	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	15.40	2.822146	0.50739	.	.	ENSG00000171942	ENST00000305899	T	0.18960	2.18	3.4	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.132610	0.34067	N	0.004282	T	0.15955	0.0384	L	0.35723	1.085	0.28149	N	0.929471	B	0.21309	0.054	B	0.31337	0.128	T	0.11060	-1.0603	10	0.54805	T	0.06	.	4.7472	0.13043	0.0:0.7195:0.0:0.2805	.	98	O60403	O10H2_HUMAN	V	98	ENSP00000306095:A98V	ENSP00000306095:A98V	A	+	2	0	OR10H2	15700146	0.000000	0.05858	0.996000	0.52242	0.941000	0.58515	0.272000	0.18644	1.446000	0.47643	0.537000	0.68136	GCC		0.632	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			15	41	0	0	0	1	0	15	41				
POLB	5423	broad.mit.edu	37	8	42229122	42229122	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr8:42229122A>G	ENST00000265421.4	+	14	1125	c.955A>G	c.(955-957)Atc>Gtc	p.I319V	POLB_ENST00000521492.1_Missense_Mutation_p.I38V|POLB_ENST00000538005.1_Missense_Mutation_p.I165V	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	319					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	TGAAAAAGACATCTTTGATTA	0.438								DNA polymerases (catalytic subunits)																														ENST00000265421.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16						c.(955-957)Atc>Gtc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), beta	Cytarabine(DB00987)						50.0	51.0	51.0					8																	42229122		2203	4300	6503	SO:0001583	missense	5423				DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding	g.chr8:42229122A>G		CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"""DNA polymerases"""	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.955A>G	8.37:g.42229122A>G	ENSP00000265421:p.Ile319Val					POLB_ENST00000538005.1_Missense_Mutation_p.I165V|POLB_ENST00000521492.1_Missense_Mutation_p.I38V	p.I319V	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		14	1125	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	319					B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	ENST00000265421.4	37	c.955A>G	CCDS6129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.20|12.20	1.867473|1.867473	0.32977|0.32977	.|.	.|.	ENSG00000070501|ENSG00000070501	ENST00000521290;ENST00000518579;ENST00000517393|ENST00000265421;ENST00000538005;ENST00000521492	.|T;T;T	.|0.52057	.|0.68;1.11;1.11	5.93|5.93	5.93|5.93	0.95920|0.95920	.|DNA-directed DNA polymerase X (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.31857|0.31857	0.0810|0.0810	N|N	0.16862|0.16862	0.45|0.45	0.80722|0.80722	D|D	1|1	.|B;B	.|0.21147	.|0.03;0.052	.|B;B	.|0.20184	.|0.021;0.028	T|T	0.15321|0.15321	-1.0441|-1.0441	5|10	.|0.14656	.|T	.|0.56	-4.2099|-4.2099	14.3304|14.3304	0.66553|0.66553	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|319;319	.|Q53EV2;P06746	.|.;DPOLB_HUMAN	R|V	220;199;66|319;165;38	.|ENSP00000265421:I319V;ENSP00000440497:I165V;ENSP00000430831:I38V	.|ENSP00000265421:I319V	H|I	+|+	2|1	0|0	POLB|POLB	42348279|42348279	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.893000|0.893000	0.52053|0.52053	9.169000|9.169000	0.94788|0.94788	2.261000|2.261000	0.74972|0.74972	0.477000|0.477000	0.44152|0.44152	CAT|ATC		0.438	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690		12	41	0	0	0	1	0	12	41				
OR12D2	26529	broad.mit.edu	37	6	29364624	29364624	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr6:29364624G>T	ENST00000383555.2	+	1	209	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TGTCATCTCCGATCCTAGACT	0.453																																						ENST00000383555.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						c.(148-150)Gat>Tat		olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)							121.0	126.0	124.0					6																	29364624		1510	2709	4219	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29364624G>T		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.148G>T	6.37:g.29364624G>T	ENSP00000373047:p.Asp50Tyr					OR5V1_ENST00000377154.1_Intron	p.D50Y	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN			1	209	+			50					B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.148G>T	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	G	7.625	0.677588	0.14841	.	.	ENSG00000168787	ENST00000383555	T	0.02974	4.09	4.07	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.353767	0.24674	N	0.036538	T	0.12433	0.0302	H	0.95679	3.705	0.09310	N	1	D	0.89917	1.0	D	0.71870	0.975	T	0.10428	-1.0630	10	0.87932	D	0	.	11.3445	0.49552	0.0:0.0:0.8183:0.1816	.	50	P58182	O12D2_HUMAN	Y	50	ENSP00000373047:D50Y	ENSP00000373047:D50Y	D	+	1	0	OR12D2	29472603	0.000000	0.05858	0.025000	0.17156	0.004000	0.04260	-0.393000	0.07305	2.090000	0.63153	0.411000	0.27672	GAT		0.453	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			36	64	1	0	6.97489e-18	1	7.31103e-18	36	64				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			17	44	0	0	0	1	0	17	44				
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	byFrequency	TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587													.|||	668	0.133387	0.0386	0.1499	5008	,	,		18807	0.4087		0.0537	False		,,,				2504	0.0481					ENST00000567960.1																			3	Substitution - Missense(3)	p.R105H(3)	urinary_tract(1)|prostate(1)|kidney(1)																																																0							g.chr16:90161578G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161578G>A						TUBB8P7_ENST00000564451.1_RNA								0	314	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.587	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	24	0	0	0	1	0	3	24				
TG	7038	broad.mit.edu	37	8	133975244	133975244	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr8:133975244G>C	ENST00000220616.4	+	29	5513	c.5473G>C	c.(5473-5475)Gac>Cac	p.D1825H	TG_ENST00000542445.1_Missense_Mutation_p.D195H|TG_ENST00000519543.1_5'Flank|TG_ENST00000377869.1_Missense_Mutation_p.D1768H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1825					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTAGATTCTGACATGGGGTC	0.463																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(5473-5475)Gac>Cac		thyroglobulin							306.0	288.0	294.0					8																	133975244		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133975244G>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5473G>C	8.37:g.133975244G>C	ENSP00000220616:p.Asp1825His					TG_ENST00000377869.1_Missense_Mutation_p.D1768H|TG_ENST00000542445.1_Missense_Mutation_p.D195H	p.D1825H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	29	5513	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1825					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.5473G>C	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.56|16.56	3.156542|3.156542	0.57259|0.57259	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445|ENST00000519178	T;T;T|.	0.69435|.	-0.19;-0.19;-0.4|.	4.41|4.41	4.41|4.41	0.53225|0.53225	.|.	0.179662|.	0.38837|.	N|.	0.001556|.	T|.	0.73969|.	0.3655|.	M|M	0.78637|0.78637	2.42|2.42	0.41194|0.41194	D|D	0.986321|0.986321	D;D|.	0.89917|.	1.0;0.998|.	D;P|.	0.73380|.	0.98;0.887|.	T|.	0.74878|.	-0.3514|.	10|.	0.72032|.	D|.	0.01|.	.|.	12.8057|12.8057	0.57612|0.57612	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	195;1825|.	F5GWW5;P01266|.	.;THYG_HUMAN|.	H|S	1768;631;1825;195|280	ENSP00000367100:D1768H;ENSP00000220616:D1825H;ENSP00000441693:D195H|.	ENSP00000220616:D1825H|.	D|X	+|+	1|2	0|2	TG|TG	134044426|134044426	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.737000|0.737000	0.42083|0.42083	2.959000|2.959000	0.49153|0.49153	2.735000|2.735000	0.93741|0.93741	0.563000|0.563000	0.77884|0.77884	GAC|TGA		0.463	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		4	269	0	0	0	1	0	4	269				
DNAH5	1767	broad.mit.edu	37	5	13758953	13758953	+	Splice_Site	SNP	A	A	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:13758953A>T	ENST00000265104.4	-	61	10524		c.e61+1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGGGCAGTTACCTGCTTTTC	0.493									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.e61+1		dynein, axonemal, heavy chain 5							165.0	153.0	157.0					5																	13758953		2203	4300	6503	SO:0001630	splice_region_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13758953A>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10419+1T>A	5.37:g.13758953A>T								NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			61	10524	-	Lung NSC(4;0.00476)							Q92860|Q96L74|Q9H5S7|Q9HCG9	Splice_Site	SNP	ENST00000265104.4	37		CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	19.26	3.792609	0.70452	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4484	0.44507	0.9279:0.0:0.0721:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH5	13811953	1.000000	0.71417	0.949000	0.38748	0.651000	0.38670	9.219000	0.95173	2.214000	0.71695	0.528000	0.53228	.		0.493	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	Intron	42	56	0	0	0	1	0	42	56				
FLG	2312	broad.mit.edu	37	1	152275641	152275641	+	Silent	SNP	G	G	A	rs374091552		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:152275641G>A	ENST00000368799.1	-	3	11756	c.11721C>T	c.(11719-11721)cgC>cgT	p.R3907R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3907	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCTGTATCGCGGTGAGAGG	0.502									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11719-11721)cgC>cgT		filaggrin		A		1,4405	2.1+/-5.4	0,1,2202	97.0	97.0	97.0		11721	-4.5	0.0	1		97	0,8600		0,0,4300	no	coding-synonymous	FLG	NM_002016.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		3907/4062	152275641	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275641G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11721C>T	1.37:g.152275641G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R3907R	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11756	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3907			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11721C>T	CCDS30860.1																																																																																				0.502	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		4	78	0	0	0	1	0	4	78				
C20orf144	128864	broad.mit.edu	37	20	32251489	32251489	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr20:32251489T>C	ENST00000375222.3	+	2	340	c.278T>C	c.(277-279)aTg>aCg	p.M93T	NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron|ACTL10_ENST00000330271.4_5'Flank|NECAB3_ENST00000606525.1_5'Flank	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	93										lung(1)	1						GAGCCGAGGATGCCGGTACTG	0.746																																						ENST00000375222.3																			0				lung(1)	1						c.(277-279)aTg>aCg		chromosome 20 open reading frame 144							4.0	5.0	5.0					20																	32251489		1636	3412	5048	SO:0001583	missense	128864							g.chr20:32251489T>C	AL121906	CCDS13223.1	20q11.22	2012-07-17			ENSG00000149609	ENSG00000149609			16137	protein-coding gene	gene with protein product	"""bcl-2-like protein from testis"""					11780052	Standard	NM_080825		Approved	dJ63M2.6, bclt	uc002wzs.2	Q9BQM9	OTTHUMG00000032263	ENST00000375222.3:c.278T>C	20.37:g.32251489T>C	ENSP00000364370:p.Met93Thr					NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	p.M93T	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN			2	340	+			93					Q1AHR2	Missense_Mutation	SNP	ENST00000375222.3	37	c.278T>C	CCDS13223.1	.	.	.	.	.	.	.	.	.	.	T	9.909	1.208884	0.22205	.	.	ENSG00000149609	ENST00000375222	T	0.44881	0.91	3.8	3.8	0.43715	.	1.612490	0.03518	N	0.220586	T	0.30541	0.0768	N	0.14661	0.345	0.20196	N	0.999926	B	0.22080	0.064	B	0.21360	0.034	T	0.14615	-1.0466	10	0.35671	T	0.21	0.0342	9.1227	0.36797	0.0:0.0:0.0:1.0	.	93	Q9BQM9	CT144_HUMAN	T	93	ENSP00000364370:M93T	ENSP00000364370:M93T	M	+	2	0	C20orf144	31715150	0.900000	0.30661	0.086000	0.20670	0.028000	0.11728	2.109000	0.41863	1.722000	0.51474	0.329000	0.21502	ATG		0.746	C20orf144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078714.2	NM_080825		3	2	0	0	0	1	0	3	2				
DYNC1H1	1778	broad.mit.edu	37	14	102431051	102431051	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr14:102431051G>C	ENST00000360184.4	+	1	187	c.23G>C	c.(22-24)gGc>gCc	p.G8A		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	8					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGGGGCGGCGGCGGCGAGGAC	0.682																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(22-24)gGc>gCc		dynein, cytoplasmic 1, heavy chain 1							6.0	8.0	8.0					14																	102431051		1934	3972	5906	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102431051G>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.23G>C	14.37:g.102431051G>C	ENSP00000348965:p.Gly8Ala						p.G8A	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			1	187	+			8					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.23G>C	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	34	5.405524	0.96051	.	.	ENSG00000197102	ENST00000360184	T	0.27557	1.66	3.81	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.37128	0.0992	N	0.14661	0.345	0.58432	D	0.999997	D	0.67145	0.996	D	0.73708	0.981	T	0.36817	-0.9732	10	0.45353	T	0.12	.	15.2926	0.73879	0.0:0.0:1.0:0.0	.	8	Q14204	DYHC1_HUMAN	A	8	ENSP00000348965:G8A	ENSP00000348965:G8A	G	+	2	0	DYNC1H1	101500804	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.628000	0.74262	1.652000	0.50683	0.561000	0.74099	GGC		0.682	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		4	16	0	0	0	1	0	4	16				
SDK1	221935	broad.mit.edu	37	7	4091419	4091419	+	Silent	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr7:4091419C>T	ENST00000404826.2	+	19	3007	c.2868C>T	c.(2866-2868)gaC>gaT	p.D956D	SDK1_ENST00000389531.3_Silent_p.D956D	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	956	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.D956D(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCCTGGGGACGGGCCTCCCA	0.527																																						ENST00000404826.2																			1	Substitution - coding silent(1)	p.D956D(1)	prostate(1)	NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(2866-2868)gaC>gaT		sidekick cell adhesion molecule 1							140.0	129.0	132.0					7																	4091419		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4091419C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2868C>T	7.37:g.4091419C>T						SDK1_ENST00000389531.3_Silent_p.D956D	p.D956D	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	19	3007	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	956			Fibronectin type-III 3.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.2868C>T	CCDS34590.1																																																																																				0.527	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		30	40	0	0	0	1	0	30	40				
DSCAML1	57453	broad.mit.edu	37	11	117310638	117310638	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr11:117310638T>C	ENST00000321322.6	-	22	4058	c.4057A>G	c.(4057-4059)Atc>Gtc	p.I1353V	DSCAML1_ENST00000527706.1_Missense_Mutation_p.I1083V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1293	Ig-like C2-type 10.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCAAAGGAGATGATCTTTGCT	0.557																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(4057-4059)Atc>Gtc		Down syndrome cell adhesion molecule like 1							137.0	118.0	125.0					11																	117310638		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117310638T>C		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4057A>G	11.37:g.117310638T>C	ENSP00000315465:p.Ile1353Val					DSCAML1_ENST00000527706.1_Missense_Mutation_p.I1083V	p.I1353V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	22	4058	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1293			Ig-like C2-type 10.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.4057A>G	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.414447	0.25465	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.26373	1.74;1.74	4.89	4.89	0.63831	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.14098	0.0341	N	0.05467	-0.045	0.44562	D	0.997526	B	0.19331	0.035	B	0.20577	0.03	T	0.11299	-1.0593	9	0.22706	T	0.39	.	13.6324	0.62202	0.0:0.0:0.0:1.0	.	1293	Q8TD84	DSCL1_HUMAN	V	1083;1353;1060	ENSP00000434335:I1083V;ENSP00000315465:I1353V	ENSP00000315465:I1353V	I	-	1	0	DSCAML1	116815848	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	1.027000	0.30115	2.062000	0.61559	0.459000	0.35465	ATC		0.557	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		5	86	0	0	0	1	0	5	86				
MAST4	375449	broad.mit.edu	37	5	66458525	66458525	+	Silent	SNP	A	A	G			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:66458525A>G	ENST00000403625.2	+	28	4171	c.3876A>G	c.(3874-3876)tcA>tcG	p.S1292S	MAST4_ENST00000261569.7_Silent_p.S1098S|MAST4_ENST00000404260.3_Silent_p.S1295S|MAST4_ENST00000403666.1_Silent_p.S1103S|MAST4_ENST00000405643.1_Silent_p.S1113S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1295	Ser-rich.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GATCCCTGTCATCGGGTGAGA	0.537																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(3883-3885)tcA>tcG		microtubule associated serine/threonine kinase family member 4							88.0	90.0	90.0					5																	66458525		1897	4105	6002	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66458525A>G	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.3876A>G	5.37:g.66458525A>G						MAST4_ENST00000403666.1_Silent_p.S1103S|MAST4_ENST00000403625.2_Silent_p.S1292S|MAST4_ENST00000405643.1_Silent_p.S1113S|MAST4_ENST00000261569.7_Silent_p.S1098S	p.S1295S			O15021	MAST4_HUMAN		Lung(70;0.011)	28	4193	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1295			Ser-rich.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.3885A>G	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	A	5.010	0.187598	0.09547	.	.	ENSG00000069020	ENST00000443808	.	.	.	5.8	-11.6	0.00059	.	.	.	.	.	T	0.33527	0.0866	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44467	-0.9326	4	.	.	.	-16.5607	3.6264	0.08114	0.2438:0.3443:0.2833:0.1287	.	.	.	.	V	349	.	.	I	+	1	0	MAST4	66494281	0.000000	0.05858	0.035000	0.18076	0.585000	0.36419	-2.401000	0.01048	-2.959000	0.00290	-1.840000	0.00586	ATC		0.537	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			21	40	0	0	0	1	0	21	40				
COLQ	8292	broad.mit.edu	37	3	15520493	15520493	+	Silent	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr3:15520493T>C	ENST00000383788.5	-	5	509	c.384A>G	c.(382-384)ccA>ccG	p.P128P	COLQ_ENST00000603808.1_Silent_p.P128P|COLQ_ENST00000383781.4_Silent_p.P118P|COLQ_ENST00000383787.2_Intron|COLQ_ENST00000383786.5_Silent_p.P94P|COLQ_ENST00000435459.2_Silent_p.P118P|COLQ_ENST00000383785.2_Silent_p.P128P	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	128	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CCTTCCTTCCTGGTCGGCCAA	0.537																																						ENST00000383785.2																			0				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						c.(382-384)ccA>ccG		collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase							128.0	105.0	113.0					3																	15520493		2203	4300	6503	SO:0001819	synonymous_variant	8292				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		g.chr3:15520493T>C	AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.384A>G	3.37:g.15520493T>C						COLQ_ENST00000383787.2_Intron|COLQ_ENST00000435459.2_Silent_p.P118P|COLQ_ENST00000383788.5_Silent_p.P128P|COLQ_ENST00000383786.5_Silent_p.P94P|COLQ_ENST00000603808.1_Silent_p.P128P|COLQ_ENST00000383781.4_Silent_p.P118P	p.P128P			Q9Y215	COLQ_HUMAN			5	509	-			128			Collagen-like 1.		B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Silent	SNP	ENST00000383788.5	37	c.384A>G	CCDS33709.1																																																																																				0.537	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343575.1	NM_005677		4	69	0	0	0	1	0	4	69				
ACSM2A	123876	broad.mit.edu	37	16	20476907	20476907	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr16:20476907T>G	ENST00000573854.1	+	3	360	c.246T>G	c.(244-246)aaT>aaG	p.N82K	ACSM2A_ENST00000536134.1_De_novo_Start_InFrame|ACSM2A_ENST00000424070.1_Missense_Mutation_p.N82K|ACSM2A_ENST00000219054.6_Missense_Mutation_p.N82K|ACSM2A_ENST00000396104.2_Missense_Mutation_p.N82K|ACSM2A_ENST00000575690.1_Missense_Mutation_p.N82K|ACSM2A_ENST00000417235.2_Missense_Mutation_p.N3K|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	82					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TAATGTGGAATTTCAGAGAAC	0.597																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(244-246)aaT>aaG		acyl-CoA synthetase medium-chain family member 2A							85.0	81.0	82.0					16																	20476907		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20476907T>G	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.246T>G	16.37:g.20476907T>G	ENSP00000459451:p.Asn82Lys					ACSM2A_ENST00000417235.2_Missense_Mutation_p.N3K|ACSM2A_ENST00000575690.1_Missense_Mutation_p.N82K|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.N82K|ACSM2A_ENST00000396104.2_Missense_Mutation_p.N82K|ACSM2A_ENST00000536134.1_De_novo_Start_InFrame|ACSM2A_ENST00000219054.6_Missense_Mutation_p.N82K	p.N82K	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			3	360	+			82					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.246T>G	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.873130	0.51695	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000424070;ENST00000396104	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	3.76	0.165	0.14995	.	0.288637	0.24620	N	0.036969	T	0.48484	0.1502	L	0.46157	1.445	0.27590	N	0.949292	D;D	0.63046	0.983;0.992	P;P	0.54346	0.749;0.749	T	0.46148	-0.9212	10	0.87932	D	0	-17.7799	9.1018	0.36673	0.0:0.7132:0.0:0.2868	.	3;82	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	K	3;82;82;82	ENSP00000392169:N3K;ENSP00000219054:N82K;ENSP00000394904:N82K;ENSP00000379411:N82K	ENSP00000219054:N82K	N	+	3	2	ACSM2A	20384408	1.000000	0.71417	0.787000	0.31911	0.039000	0.13416	1.861000	0.39438	0.189000	0.20188	-0.782000	0.03352	AAT		0.597	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		4	44	0	0	0	1	0	4	44				
FUCA2	2519	broad.mit.edu	37	6	143818531	143818531	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr6:143818531T>C	ENST00000002165.6	-	6	1313	c.1258A>G	c.(1258-1260)Aca>Gca	p.T420A	RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|FUCA2_ENST00000438118.2_3'UTR|RP1-20N2.6_ENST00000610068.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	420					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CTTACCTCTGTTGCCCCCAGA	0.393																																						ENST00000002165.5																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1258-1260)Aca>Gca		fucosidase, alpha-L- 2, plasma							73.0	74.0	73.0					6																	143818531		2203	4300	6503	SO:0001583	missense	2519				fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding	g.chr6:143818531T>C	BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.1258A>G	6.37:g.143818531T>C	ENSP00000002165:p.Thr420Ala					RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000438118.2_3'UTR|RP1-20N2.6_ENST00000589563.1_RNA	p.T420A	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)	6	1313	-			420					E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	ENST00000002165.6	37	c.1258A>G	CCDS5200.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.342474	0.61073	.	.	ENSG00000001036	ENST00000002165;ENST00000451668	T;T	0.70749	0.49;-0.51	5.6	5.6	0.85130	.	0.264584	0.42682	D	0.000665	T	0.74122	0.3675	M	0.78916	2.43	0.80722	D	1	D;B	0.58620	0.983;0.103	P;B	0.53102	0.718;0.056	T	0.76493	-0.2939	10	0.44086	T	0.13	-15.5236	15.786	0.78304	0.0:0.0:0.0:1.0	.	99;420	Q7Z6V2;Q9BTY2	.;FUCO2_HUMAN	A	420;99	ENSP00000002165:T420A;ENSP00000398119:T99A	ENSP00000002165:T420A	T	-	1	0	FUCA2	143860224	1.000000	0.71417	0.931000	0.37212	0.104000	0.19210	5.233000	0.65337	2.128000	0.65567	0.519000	0.50382	ACA		0.393	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020		22	26	0	0	0	1	0	22	26				
NCAPG2	54892	broad.mit.edu	37	7	158443658	158443658	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr7:158443658A>G	ENST00000409423.1	-	25	3113	c.2941T>C	c.(2941-2943)Tat>Cat	p.Y981H	NCAPG2_ENST00000449727.2_Missense_Mutation_p.Y981H|NCAPG2_ENST00000356309.3_Missense_Mutation_p.Y981H|NCAPG2_ENST00000409339.3_Missense_Mutation_p.Y981H|NCAPG2_ENST00000541468.1_Intron|NCAPG2_ENST00000275830.10_Intron	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	981					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TGAACAGAATAAAGCAGCTAC	0.393																																						ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(2941-2943)Tat>Cat		non-SMC condensin II complex, subunit G2							86.0	85.0	86.0					7																	158443658		1857	4111	5968	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158443658A>G	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2941T>C	7.37:g.158443658A>G	ENSP00000386569:p.Tyr981His					NCAPG2_ENST00000275830.10_Intron|NCAPG2_ENST00000449727.2_Missense_Mutation_p.Y981H|NCAPG2_ENST00000541468.1_Intron|NCAPG2_ENST00000409423.1_Missense_Mutation_p.Y981H|NCAPG2_ENST00000356309.3_Missense_Mutation_p.Y981H	p.Y981H			Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	24	3054	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	981					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.2941T>C	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	A	0.873	-0.731271	0.03135	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000409339;ENST00000545393;ENST00000449727	T;T;T;T	0.27720	1.66;1.66;1.65;1.65	5.11	0.216	0.15258	.	0.605714	0.17528	N	0.170979	T	0.12433	0.0302	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.32107	-0.9919	10	0.15066	T	0.55	-5.3947	8.0316	0.30467	0.4593:0.0:0.5407:0.0	.	981;424;981	Q86XI2-2;B4DHE5;Q86XI2	.;.;CNDG2_HUMAN	H	981;981;981;424;981	ENSP00000348657:Y981H;ENSP00000386569:Y981H;ENSP00000387007:Y981H;ENSP00000388326:Y981H	ENSP00000348657:Y981H	Y	-	1	0	NCAPG2	158136419	0.128000	0.22383	0.290000	0.24890	0.352000	0.29268	1.000000	0.29770	0.280000	0.22209	-0.290000	0.09829	TAT		0.393	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		4	69	0	0	0	1	0	4	69				
HMCN1	83872	broad.mit.edu	37	1	186014861	186014861	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:186014861C>T	ENST00000271588.4	+	41	6575	c.6346C>T	c.(6346-6348)Ctc>Ttc	p.L2116F	HMCN1_ENST00000367492.2_Missense_Mutation_p.L2116F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2116	Ig-like C2-type 19.				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						TGTCTCTGTCCTCATTAGCCA	0.433																																						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.(6346-6348)Ctc>Ttc		hemicentin 1							152.0	133.0	139.0					1																	186014861		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186014861C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6346C>T	1.37:g.186014861C>T	ENSP00000271588:p.Leu2116Phe					HMCN1_ENST00000367492.2_Missense_Mutation_p.L2116F	p.L2116F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			41	6575	+			2116			Ig-like C2-type 19.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.6346C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062573	0.36373	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67698	-0.28;-0.28	5.35	0.832	0.18867	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.297385	0.36555	N	0.002528	T	0.67543	0.2904	L	0.59436	1.845	0.42803	D	0.993937	D	0.71674	0.998	D	0.63033	0.91	T	0.63382	-0.6650	10	0.23891	T	0.37	.	2.8939	0.05685	0.1163:0.4521:0.2282:0.2034	.	2116	Q96RW7	HMCN1_HUMAN	F	2116	ENSP00000271588:L2116F;ENSP00000356462:L2116F	ENSP00000271588:L2116F	L	+	1	0	HMCN1	184281484	0.999000	0.42202	0.994000	0.49952	0.978000	0.69477	1.739000	0.38217	0.257000	0.21650	-0.885000	0.02943	CTC		0.433	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		21	53	0	0	0	1	0	21	53				
IL5	3567	broad.mit.edu	37	5	131879049	131879049	+	Missense_Mutation	SNP	C	C	T	rs201066544		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:131879049C>T	ENST00000231454.1	-	1	165	c.122G>A	c.(121-123)cGa>cAa	p.R41Q		NM_000879.2	NP_000870.1	P05113	IL5_HUMAN	interleukin 5	41					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of eosinophil differentiation (GO:0045645)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of podosome assembly (GO:0071803)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-5 receptor binding (GO:0005137)			endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Pranlukast(DB01411)	CAGCAGAGTTCGATGAGTAGA	0.418																																						ENST00000231454.1																			0				endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4						c.(121-123)cGa>cAa		interleukin 5 (colony-stimulating factor, eosinophil)	Pranlukast(DB01411)	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	140.0	123.0	129.0		122	-2.8	0.0	5		129	0,8600		0,0,4300	no	missense	IL5	NM_000879.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	41/135	131879049	1,13005	2203	4300	6503	SO:0001583	missense	3567				immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly	extracellular space	cytokine activity|growth factor activity|interleukin-5 receptor binding	g.chr5:131879049C>T	X04688	CCDS4156.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000113525	ENSG00000113525		"""Interleukins and interleukin receptors"""	6016	protein-coding gene	gene with protein product	"""interleukin-5"", ""T-cell replacing factor"", ""B cell differentiation factor I"", ""eosinophil differentiation factor"", ""colony-stimulating factor, eosinophil"""	147850	"""interleukin 5 (colony-stimulating factor, eosinophil)"""			3498940	Standard	NM_000879		Approved	IL-5, EDF, TRF	uc003kxe.1	P05113	OTTHUMG00000059496	ENST00000231454.1:c.122G>A	5.37:g.131879049C>T	ENSP00000231454:p.Arg41Gln						p.R41Q	NM_000879.2	NP_000870.1	P05113	IL5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	165	-		all_cancers(142;0.0368)|Breast(839;0.198)	41					Q13840	Missense_Mutation	SNP	ENST00000231454.1	37	c.122G>A	CCDS4156.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478571	0.26511	2.27E-4	0.0	ENSG00000113525	ENST00000231454	.	.	.	5.82	-2.77	0.05877	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.806031	0.10809	N	0.631860	T	0.29093	0.0723	L	0.35854	1.095	0.09310	N	1	B	0.23854	0.092	B	0.15052	0.012	T	0.16247	-1.0409	9	0.28530	T	0.3	0.0051	11.5473	0.50700	0.0:0.3336:0.0:0.6664	.	41	P05113	IL5_HUMAN	Q	41	.	ENSP00000231454:R41Q	R	-	2	0	IL5	131906948	0.036000	0.19791	0.000000	0.03702	0.002000	0.02628	-0.801000	0.04550	-0.691000	0.05135	-0.140000	0.14226	CGA		0.418	IL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132339.1	NM_000879		15	30	0	0	0	1	0	15	30				
OPN4	94233	broad.mit.edu	37	10	88418319	88418319	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr10:88418319G>A	ENST00000241891.5	+	4	670	c.503G>A	c.(502-504)cGc>cAc	p.R168H	OPN4_ENST00000372071.2_Missense_Mutation_p.R179H	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	168					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GCCCTGGACCGCTACCTGGTA	0.617																																						ENST00000372071.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						c.(535-537)cGc>cAc		opsin 4							92.0	81.0	84.0					10																	88418319		2203	4300	6503	SO:0001583	missense	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88418319G>A	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.503G>A	10.37:g.88418319G>A	ENSP00000241891:p.Arg168His					OPN4_ENST00000241891.5_Missense_Mutation_p.R168H	p.R179H	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN			5	763	+			168					B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	c.536G>A	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	G	35	5.491836	0.96339	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	D;D;D	0.97161	-4.27;-4.27;-4.27	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.132116	0.49916	D	0.000140	D	0.99324	0.9763	H	0.99675	4.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.996	D	0.98272	1.0504	10	0.87932	D	0	.	18.7781	0.91920	0.0:0.0:1.0:0.0	.	179;168;179	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	H	179;168;179	ENSP00000361141:R179H;ENSP00000241891:R168H;ENSP00000393132:R179H	ENSP00000241891:R168H	R	+	2	0	OPN4	88408299	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.838000	0.99474	2.434000	0.82447	0.561000	0.74099	CGC		0.617	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		15	26	0	0	0	1	0	15	26				
DNAH17	8632	broad.mit.edu	37	17	76497400	76497400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr17:76497400C>T	ENST00000585328.1	-	35	5458	c.5334G>A	c.(5332-5334)tgG>tgA	p.W1778*	DNAH17-AS1_ENST00000598378.1_3'UTR|RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000389840.5_Nonsense_Mutation_p.W1769*	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1769	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(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTGGGCCTGCCAGGTGAAGG	0.567																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(5305-5307)tgG>tgA		dynein, axonemal, heavy chain 17							59.0	63.0	62.0					17																	76497400		2100	4250	6350	SO:0001587	stop_gained	8632							g.chr17:76497400C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5334G>A	17.37:g.76497400C>T	ENSP00000465516:p.Trp1778*					DNAH17_ENST00000585328.1_Nonsense_Mutation_p.W1778*|DNAH17-AS1_ENST00000598378.1_3'UTR	p.W1769*					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		35	5431	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Nonsense_Mutation	SNP	ENST00000585328.1	37	c.5307G>A		.	.	.	.	.	.	.	.	.	.	C	47	13.653659	0.99755	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.995	0.86365	0.0:1.0:0.0:0.0	.	.	.	.	X	1778;1769	.	ENSP00000300671:W1778X	W	-	3	0	DNAH17	74008995	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.567000	0.82357	2.067000	0.61834	0.448000	0.29417	TGG		0.567	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		15	24	0	0	0	1	0	15	24				
DDC	1644	broad.mit.edu	37	7	50611777	50611777	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr7:50611777C>T	ENST00000444124.2	-	2	207	c.7G>A	c.(7-9)Gca>Aca	p.A3T	DDC_ENST00000357936.5_Missense_Mutation_p.A3T|DDC_ENST00000431062.1_Missense_Mutation_p.A3T|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000426377.1_Missense_Mutation_p.A3T|DDC_ENST00000380984.4_Missense_Mutation_p.A3T	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	3					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	AATTCACTTGCGTTCATGGTG	0.512																																						ENST00000444124.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(7-9)Gca>Aca		dopa decarboxylase (aromatic L-amino acid decarboxylase)	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						186.0	147.0	160.0					7																	50611777		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50611777C>T		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.7G>A	7.37:g.50611777C>T	ENSP00000403644:p.Ala3Thr					DDC_ENST00000431062.1_Missense_Mutation_p.A3T|DDC_ENST00000357936.5_Missense_Mutation_p.A3T|DDC_ENST00000426377.1_Missense_Mutation_p.A3T|DDC_ENST00000380984.4_Missense_Mutation_p.A3T	p.A3T	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN			2	207	-	Glioma(55;0.08)|all_neural(89;0.245)		3					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.7G>A	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021539	0.35701	.	.	ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124;ENST00000380984;ENST00000420203;ENST00000432526	T;T;T;T;T;T	0.48836	1.1;1.1;1.1;1.1;1.1;0.8	5.92	-7.18	0.01505	Pyridoxal phosphate-dependent transferase, major domain (1);	0.556195	0.20859	N	0.084394	T	0.33294	0.0858	L	0.58925	1.835	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.06405	0.001;0.002	T	0.12941	-1.0528	10	0.42905	T	0.14	1.6178	7.7284	0.28773	0.4103:0.389:0.0:0.2007	.	3;3	Q53Y41;P20711	.;DDC_HUMAN	T	3	ENSP00000350616:A3T;ENSP00000399184:A3T;ENSP00000395069:A3T;ENSP00000403644:A3T;ENSP00000370371:A3T;ENSP00000408626:A3T	ENSP00000350616:A3T	A	-	1	0	DDC	50579271	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.764000	0.04735	-1.244000	0.02516	-3.134000	0.00060	GCA		0.512	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			4	106	0	0	0	1	0	4	106				
HPN	3249	broad.mit.edu	37	19	35556561	35556561	+	Silent	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr19:35556561C>T	ENST00000262626.2	+	11	1851	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	HPN_ENST00000392226.1_Silent_p.P342P|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Silent_p.P184P	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	342	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CTGGCTACCCCGAGGGTGGCA	0.597																																						ENST00000262626.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(1024-1026)ccC>ccT		hepsin	Coagulation factor VIIa(DB00036)						67.0	67.0	67.0					19																	35556561		2203	4300	6503	SO:0001819	synonymous_variant	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35556561C>T		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.1026C>T	19.37:g.35556561C>T						HPN_ENST00000597419.1_Silent_p.P184P|HPN_ENST00000392226.1_Silent_p.P342P|HPN-AS1_ENST00000392227.2_RNA	p.P342P	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		11	1851	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		342			Peptidase S1.		B2RDS4	Silent	SNP	ENST00000262626.2	37	c.1026C>T	CCDS32993.1																																																																																				0.597	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		27	44	0	0	0	1	0	27	44				
SHKBP1	92799	broad.mit.edu	37	19	41096689	41096689	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr19:41096689G>A	ENST00000291842.5	+	17	1871	c.1822G>A	c.(1822-1824)Gcc>Acc	p.A608T	SHKBP1_ENST00000600733.1_Missense_Mutation_p.A583T|LTBP4_ENST00000204005.9_5'Flank|LTBP4_ENST00000545697.1_5'Flank	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	608					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGTGAGCTGGCCCCGCCGGC	0.657																																						ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(1822-1824)Gcc>Acc		SH3KBP1 binding protein 1							52.0	62.0	59.0					19																	41096689		2203	4300	6503	SO:0001583	missense	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41096689G>A	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1822G>A	19.37:g.41096689G>A	ENSP00000291842:p.Ala608Thr					SHKBP1_ENST00000600733.1_Missense_Mutation_p.A583T	p.A608T	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		17	1871	+			608					Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	c.1822G>A	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236431	0.22711	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.45276	0.9	4.82	1.47	0.22746	.	0.376455	0.22906	N	0.054198	T	0.26011	0.0634	N	0.17474	0.49	0.28511	N	0.913568	B;B;B;B;B	0.29037	0.002;0.231;0.0;0.025;0.0	B;B;B;B;B	0.33042	0.007;0.157;0.001;0.039;0.001	T	0.17349	-1.0372	10	0.49607	T	0.09	-0.1966	7.9394	0.29950	0.2858:0.0:0.7142:0.0	.	486;388;445;608;608	B4DLI0;B4DUW2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;SHKB1_HUMAN	T	608;388	ENSP00000291842:A608T	ENSP00000291842:A608T	A	+	1	0	SHKBP1	45788529	0.892000	0.30473	0.222000	0.23844	0.004000	0.04260	1.477000	0.35431	0.184000	0.20083	-0.258000	0.10820	GCC		0.657	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		34	38	0	0	0	1	0	34	38				
OPRM1	4988	broad.mit.edu	37	6	154412154	154412154	+	Nonsense_Mutation	SNP	T	T	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr6:154412154T>A	ENST00000330432.7	+	3	948	c.711T>A	c.(709-711)tgT>tgA	p.C237*	OPRM1_ENST00000434900.2_Nonsense_Mutation_p.C330*|OPRM1_ENST00000337049.4_Nonsense_Mutation_p.C237*|OPRM1_ENST00000360422.4_Nonsense_Mutation_p.C237*|OPRM1_ENST00000518759.1_Nonsense_Mutation_p.C156*|OPRM1_ENST00000419506.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000524163.1_Nonsense_Mutation_p.C237*|OPRM1_ENST00000522236.1_Nonsense_Mutation_p.C137*|OPRM1_ENST00000414028.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000522555.1_Nonsense_Mutation_p.C137*|OPRM1_ENST00000520708.1_Nonsense_Mutation_p.C137*|OPRM1_ENST00000435918.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000428397.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000452687.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000229768.5_Nonsense_Mutation_p.C237*	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	237					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TGAAGATCTGTGTTTTCATCT	0.438																																						ENST00000414028.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(709-711)tgT>tgA		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						192.0	180.0	184.0					6																	154412154		2023	4207	6230	SO:0001587	stop_gained	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412154T>A	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.711T>A	6.37:g.154412154T>A	ENSP00000328264:p.Cys237*					OPRM1_ENST00000452687.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000419506.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000520708.1_Nonsense_Mutation_p.C137*|OPRM1_ENST00000522555.1_Nonsense_Mutation_p.C137*|OPRM1_ENST00000518759.1_Nonsense_Mutation_p.C156*|OPRM1_ENST00000337049.4_Nonsense_Mutation_p.C237*|OPRM1_ENST00000434900.2_Nonsense_Mutation_p.C330*|OPRM1_ENST00000524163.1_Nonsense_Mutation_p.C237*|OPRM1_ENST00000428397.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000360422.4_Nonsense_Mutation_p.C237*|OPRM1_ENST00000330432.7_Nonsense_Mutation_p.C237*|OPRM1_ENST00000229768.5_Nonsense_Mutation_p.C237*|OPRM1_ENST00000435918.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000522236.1_Nonsense_Mutation_p.C137*	p.C237*	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	761	+		Ovarian(120;0.196)	237					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Nonsense_Mutation	SNP	ENST00000330432.7	37	c.711T>A	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	T	32	5.106410	0.94292	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	.	.	.	5.82	0.776	0.18532	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	9.5798	0.39481	0.0:0.2614:0.0:0.7386	.	.	.	.	X	330;137;156;237;237;237;237;237;237;237;237;237;237;137;137	.	ENSP00000229768:C237X	C	+	3	2	OPRM1	154453847	0.964000	0.33143	0.998000	0.56505	0.989000	0.77384	0.100000	0.15231	-0.078000	0.12730	-0.263000	0.10527	TGT		0.438	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		43	49	0	0	0	1	0	43	49				
CCDC110	256309	broad.mit.edu	37	4	186380117	186380117	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:186380117C>T	ENST00000307588.3	-	6	1699	c.1624G>A	c.(1624-1626)Gca>Aca	p.A542T	CCDC110_ENST00000393540.3_Missense_Mutation_p.A505T|CCDC110_ENST00000510617.1_Missense_Mutation_p.A542T|CCDC110_ENST00000507501.1_5'Flank	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	542						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TGATCTAATGCTTCCATCATT	0.274																																						ENST00000307588.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(1624-1626)Gca>Aca		coiled-coil domain containing 110							113.0	106.0	108.0					4																	186380117		2203	4298	6501	SO:0001583	missense	256309					nucleus		g.chr4:186380117C>T	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1624G>A	4.37:g.186380117C>T	ENSP00000306776:p.Ala542Thr					CCDC110_ENST00000510617.1_Missense_Mutation_p.A542T|CCDC110_ENST00000393540.3_Missense_Mutation_p.A505T	p.A542T	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	1699	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	542					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.1624G>A	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.517579	0.00975	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.06608	3.28;3.29;3.29	5.85	-3.45	0.04781	.	1.198120	0.05985	N	0.645096	T	0.02267	0.0070	N	0.02916	-0.46	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.47433	-0.9118	10	0.15066	T	0.55	0.0048	5.1749	0.15129	0.2481:0.4377:0.0:0.3143	.	542;505;542	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	T	505;542;542	ENSP00000377172:A505T;ENSP00000306776:A542T;ENSP00000427246:A542T	ENSP00000306776:A542T	A	-	1	0	CCDC110	186617111	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.335000	0.07873	-0.233000	0.09797	-0.136000	0.14681	GCA		0.274	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		10	31	0	0	0	1	0	10	31				
MORC1	27136	broad.mit.edu	37	3	108776215	108776215	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr3:108776215C>T	ENST00000483760.1	-	13	1193	c.1150G>A	c.(1150-1152)Ggc>Agc	p.G384S	MORC1_ENST00000232603.5_Missense_Mutation_p.G384S					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AACTGTGAGCCCACTTTTTCA	0.403																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(1150-1152)Ggc>Agc		MORC family CW-type zinc finger 1							118.0	113.0	115.0					3																	108776215		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108776215C>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1150G>A	3.37:g.108776215C>T	ENSP00000417282:p.Gly384Ser					MORC1_ENST00000483760.1_Missense_Mutation_p.G384S	p.G384S	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			13	1232	-			384						Missense_Mutation	SNP	ENST00000483760.1	37	c.1150G>A		.	.	.	.	.	.	.	.	.	.	C	23.9	4.471946	0.84533	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.08102	3.13;3.14	4.8	4.8	0.61643	.	0.000000	0.47093	D	0.000241	T	0.28034	0.0691	M	0.69823	2.125	0.42882	D	0.994171	D;P	0.89917	1.0;0.942	D;P	0.91635	0.999;0.684	T	0.00939	-1.1507	10	0.52906	T	0.07	-11.3443	15.4085	0.74900	0.0:1.0:0.0:0.0	.	384;384	E7ERX1;Q86VD1	.;MORC1_HUMAN	S	384	ENSP00000232603:G384S;ENSP00000417282:G384S	ENSP00000232603:G384S	G	-	1	0	MORC1	110258905	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.713000	0.68415	2.470000	0.83445	0.655000	0.94253	GGC		0.403	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			46	61	0	0	0	1	0	46	61				
RAD51AP2	729475	broad.mit.edu	37	2	17696859	17696859	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr2:17696859A>T	ENST00000399080.2	-	1	2847	c.2824T>A	c.(2824-2826)Tgt>Agt	p.C942S		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	942										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCTGAAAACATTCATCATTC	0.318																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2824-2826)Tgt>Agt		RAD51 associated protein 2							38.0	39.0	39.0					2																	17696859		1808	4076	5884	SO:0001583	missense	729475							g.chr2:17696859A>T	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.2824T>A	2.37:g.17696859A>T	ENSP00000382030:p.Cys942Ser						p.C942S	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	2847	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		942						Missense_Mutation	SNP	ENST00000399080.2	37	c.2824T>A	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	A	16.29	3.081219	0.55753	.	.	ENSG00000214842	ENST00000399080	T	0.27557	1.66	5.41	4.26	0.50523	.	.	.	.	.	T	0.40815	0.1132	L	0.29908	0.895	0.29437	N	0.859413	D	0.89917	1.0	D	0.74674	0.984	T	0.28299	-1.0048	9	0.87932	D	0	-5.3779	9.2466	0.37529	0.9181:0.0:0.0819:0.0	.	942	Q09MP3	R51A2_HUMAN	S	942	ENSP00000382030:C942S	ENSP00000382030:C942S	C	-	1	0	RAD51AP2	17560340	0.987000	0.35691	1.000000	0.80357	0.682000	0.39822	1.226000	0.32563	1.005000	0.39183	0.533000	0.62120	TGT		0.318	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		14	29	0	0	0	1	0	14	29				
DHRS7C	201140	broad.mit.edu	37	17	9683322	9683322	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr17:9683322G>C	ENST00000330255.5	-	3	313	c.301C>G	c.(301-303)Ctc>Gtc	p.L101V	DHRS7C_ENST00000571134.1_Missense_Mutation_p.L100V	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	101					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						ATGTCTGAGAGGTCCAACAGG	0.527																																						ENST00000330255.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						c.(301-303)Ctc>Gtc		dehydrogenase/reductase (SDR family) member 7C							70.0	70.0	70.0					17																	9683322		2039	4200	6239	SO:0001583	missense	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9683322G>C		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.301C>G	17.37:g.9683322G>C	ENSP00000327975:p.Leu101Val					DHRS7C_ENST00000571134.1_Missense_Mutation_p.L100V	p.L101V	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN			3	313	-			101					B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	c.301C>G	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.976316	0.34848	.	.	ENSG00000184544	ENST00000330255	D	0.84730	-1.89	5.48	1.84	0.25277	NAD(P)-binding domain (1);	0.244894	0.42682	D	0.000676	T	0.72087	0.3417	N	0.20574	0.59	0.30628	N	0.757815	B;B	0.31209	0.243;0.313	B;B	0.36719	0.118;0.231	T	0.64132	-0.6479	10	0.33141	T	0.24	.	4.4327	0.11535	0.3064:0.0:0.5458:0.1478	.	101;97	A6NNS2;B9EJH3	DRS7C_HUMAN;.	V	101	ENSP00000327975:L101V	ENSP00000327975:L101V	L	-	1	0	DHRS7C	9624047	1.000000	0.71417	0.986000	0.45419	0.842000	0.47809	1.569000	0.36428	0.100000	0.17581	-0.345000	0.07892	CTC		0.527	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		7	20	0	0	0	1	0	7	20				
GYS2	2998	broad.mit.edu	37	12	21713428	21713428	+	Splice_Site	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr12:21713428T>C	ENST00000261195.2	-	8	1317		c.e8-2			NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)						carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTTATGCATCTGATGAGGAAT	0.328																																					Colon(149;9 1820 3690 10544 50424)	ENST00000261195.2																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.e8-2		glycogen synthase 2 (liver)							131.0	122.0	125.0					12																	21713428		2203	4300	6503	SO:0001630	splice_region_variant	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21713428T>C		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1063-2A>G	12.37:g.21713428T>C								NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN			8	1317	-								A0AVD8	Splice_Site	SNP	ENST00000261195.2	37		CCDS8690.1	.	.	.	.	.	.	.	.	.	.	T	19.46	3.831822	0.71258	.	.	ENSG00000111713	ENST00000261195	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.628	0.68635	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GYS2	21604695	1.000000	0.71417	0.983000	0.44433	0.832000	0.47134	7.854000	0.86942	2.046000	0.60703	0.460000	0.39030	.		0.328	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957	Intron	40	56	0	0	0	1	0	40	56				
DNAH10	196385	broad.mit.edu	37	12	124288309	124288309	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr12:124288309A>G	ENST00000409039.3	+	16	2387	c.2362A>G	c.(2362-2364)Aca>Gca	p.T788A		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	788	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCCAGGCTGACATTAATAGA	0.413																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2362-2364)Aca>Gca		dynein, axonemal, heavy chain 10							78.0	74.0	75.0					12																	124288309		2203	4300	6503	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124288309A>G	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2362A>G	12.37:g.124288309A>G	ENSP00000386770:p.Thr788Ala						p.T788A	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	16	2387	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		788			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.2362A>G	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	A	2.309	-0.358257	0.05138	.	.	ENSG00000197653	ENST00000409039	T	0.20463	2.07	5.0	-3.42	0.04825	.	0.566328	0.15824	N	0.242846	T	0.06325	0.0163	N	0.10874	0.06	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.33033	-0.9884	10	0.11794	T	0.64	.	1.3475	0.02166	0.2064:0.1146:0.3109:0.368	.	788;663;788	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	A	788	ENSP00000386770:T788A	ENSP00000386770:T788A	T	+	1	0	DNAH10	122854262	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.131000	0.15870	-0.208000	0.10171	-1.258000	0.01471	ACA		0.413	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			20	66	0	0	0	1	0	20	66				
FLT3	2322	broad.mit.edu	37	13	28636085	28636085	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr13:28636085T>C	ENST00000241453.7	-	3	368	c.287A>G	c.(286-288)gAc>gGc	p.D96G	FLT3_ENST00000537084.1_Missense_Mutation_p.D96G|FLT3_ENST00000380982.4_Missense_Mutation_p.D96G	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	96					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCCTGGGGCGTCGACCAGCAC	0.522			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(286-288)gAc>gGc		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						115.0	103.0	107.0					13																	28636085		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28636085T>C	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.287A>G	13.37:g.28636085T>C	ENSP00000241453:p.Asp96Gly					FLT3_ENST00000537084.1_Missense_Mutation_p.D96G|FLT3_ENST00000241453.7_Missense_Mutation_p.D96G	p.D96G			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	3	368	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	96					A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.287A>G	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	T	8.204	0.798720	0.16397	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.42900	0.96;0.96;0.96	5.72	-5.76	0.02376	.	1.474310	0.03617	N	0.235706	T	0.21631	0.0521	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.18053	-1.0349	10	0.25106	T	0.35	.	10.2064	0.43116	0.0:0.4475:0.356:0.1965	.	96;96	P36888-2;P36888	.;FLT3_HUMAN	G	96	ENSP00000241453:D96G;ENSP00000370369:D96G;ENSP00000438139:D96G	ENSP00000241453:D96G	D	-	2	0	FLT3	27534085	0.000000	0.05858	0.000000	0.03702	0.267000	0.26476	-0.532000	0.06164	-1.045000	0.03250	0.416000	0.27883	GAC		0.522	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			4	21	0	0	0	1	0	4	21				
CCDC174	51244	broad.mit.edu	37	3	14709604	14709604	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr3:14709604G>T	ENST00000383794.3	+	9	941	c.868G>T	c.(868-870)Gct>Tct	p.A290S	CCDC174_ENST00000476763.1_3'UTR|CCDC174_ENST00000303688.7_Intron	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	290						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AAAGCGAAAGGCTATCTTAGA	0.343																																						ENST00000383794.3																			0											c.(868-870)Gct>Tct		coiled-coil domain containing 174							90.0	95.0	93.0					3																	14709604		2203	4300	6503	SO:0001583	missense	51244							g.chr3:14709604G>T	AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.868G>T	3.37:g.14709604G>T	ENSP00000373304:p.Ala290Ser					CCDC174_ENST00000303688.7_Intron|CCDC174_ENST00000476763.1_3'UTR	p.A290S	NM_016474.4	NP_057558.3					9	941	+								Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	c.868G>T	CCDS2620.2	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676957	0.68042	.	.	ENSG00000154781	ENST00000383794	T	0.49720	0.77	5.76	5.76	0.90799	.	0.052182	0.85682	D	0.000000	T	0.42630	0.1211	N	0.25245	0.725	0.80722	D	1	P	0.50272	0.933	P	0.51355	0.667	T	0.10870	-1.0611	10	0.15066	T	0.55	-15.9321	13.683	0.62499	0.0:0.0:0.8454:0.1546	.	290	Q6PII3	CC019_HUMAN	S	290	ENSP00000373304:A290S	ENSP00000373304:A290S	A	+	1	0	C3orf19	14684608	1.000000	0.71417	0.883000	0.34634	0.940000	0.58332	6.312000	0.72840	2.725000	0.93324	0.460000	0.39030	GCT		0.343	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474		27	49	1	0	1.42536e-11	1	1.47626e-11	27	49				
PRRX2	51450	broad.mit.edu	37	9	132482974	132482974	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr9:132482974G>A	ENST00000372469.4	+	3	774	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	RP11-483H20.6_ENST00000440413.1_RNA	NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	183					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				CCAGGAGGCCGCCATCGAGCA	0.647																																						ENST00000372469.4																			0				lung(2)|pancreas(1)	3						c.(547-549)Gcc>Acc		paired related homeobox 2							48.0	52.0	51.0					9																	132482974		2203	4300	6503	SO:0001583	missense	51450					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:132482974G>A	AF061970	CCDS6926.1	9q34.11	2011-06-20			ENSG00000167157	ENSG00000167157		"""Homeoboxes / PRD class"""	21338	protein-coding gene	gene with protein product		604675				11063257	Standard	NM_016307		Approved	PRX2, PMX2	uc004byh.3	Q99811	OTTHUMG00000020790	ENST00000372469.4:c.547G>A	9.37:g.132482974G>A	ENSP00000361547:p.Ala183Thr						p.A183T	NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN			3	774	+		Ovarian(14;0.00556)	183					Q5SZB5|Q9UIB3	Missense_Mutation	SNP	ENST00000372469.4	37	c.547G>A	CCDS6926.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698128	0.68386	.	.	ENSG00000167157	ENST00000372469	D	0.90069	-2.61	5.42	4.5	0.54988	.	0.118823	0.56097	D	0.000027	D	0.88070	0.6338	L	0.52573	1.65	0.48830	D	0.999713	D	0.67145	0.996	P	0.49683	0.619	D	0.85411	0.1137	10	0.19590	T	0.45	.	14.6926	0.69096	0.0:0.0:0.8538:0.1462	.	183	Q99811	PRRX2_HUMAN	T	183	ENSP00000361547:A183T	ENSP00000361547:A183T	A	+	1	0	PRRX2	131522795	1.000000	0.71417	0.983000	0.44433	0.977000	0.68977	6.176000	0.71955	1.383000	0.46405	0.561000	0.74099	GCC		0.647	PRRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054598.2	NM_016307		28	60	0	0	0	1	0	28	60				
ANKRD30A	91074	broad.mit.edu	37	10	37431045	37431045	+	Missense_Mutation	SNP	C	C	T	rs200264724		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr10:37431045C>T	ENST00000602533.1	+	7	1151	c.1052C>T	c.(1051-1053)aCg>aTg	p.T351M	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.T351M|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T351M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	407					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAGAAATTTACGTGGGCAGCA	0.423																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1051-1053)aCg>aTg		ankyrin repeat domain 30A							102.0	102.0	102.0					10																	37431045		1846	4086	5932	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37431045C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1052C>T	10.37:g.37431045C>T	ENSP00000473551:p.Thr351Met					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T351M|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.T351M	p.T351M			Q9BXX3	AN30A_HUMAN			7	1151	+			407					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1052C>T		.	.	.	.	.	.	.	.	.	.	.	10.65	1.408766	0.25378	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.37915	1.28;1.17	.	.	.	.	.	.	.	.	T	0.27697	0.0681	N	0.08118	0	0.09310	N	1	D	0.61080	0.989	P	0.56088	0.791	T	0.15665	-1.0429	7	0.56958	D	0.05	.	.	.	.	.	407	Q9BXX3	AN30A_HUMAN	M	351	ENSP00000354432:T351M;ENSP00000363792:T351M	ENSP00000354432:T351M	T	+	2	0	ANKRD30A	37471051	0.822000	0.29219	0.224000	0.23877	0.224000	0.24922	0.866000	0.27954	0.088000	0.17205	0.089000	0.15464	ACG		0.423	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		43	51	0	0	0	1	0	43	51				
UBR5	51366	broad.mit.edu	37	8	103335639	103335639	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr8:103335639T>C	ENST00000520539.1	-	14	2290	c.1684A>G	c.(1684-1686)Atg>Gtg	p.M562V	UBR5_ENST00000220959.4_Missense_Mutation_p.M562V|UBR5_ENST00000521922.1_Missense_Mutation_p.M556V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	562					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ACTGACTCCATTAAGACACCA	0.363																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(1684-1686)Atg>Gtg		ubiquitin protein ligase E3 component n-recognin 5							92.0	84.0	87.0					8																	103335639		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103335639T>C	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.1684A>G	8.37:g.103335639T>C	ENSP00000429084:p.Met562Val					UBR5_ENST00000521922.1_Missense_Mutation_p.M556V|UBR5_ENST00000220959.4_Missense_Mutation_p.M562V	p.M562V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		14	2290	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		562					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.1684A>G	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.205625	0.39003	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.45276	0.9;0.9;0.9	5.67	5.67	0.87782	.	0.050291	0.85682	D	0.000000	T	0.33000	0.0848	N	0.24115	0.695	0.39675	D	0.970815	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.12319	-1.0552	10	0.62326	D	0.03	.	15.9014	0.79380	0.0:0.0:0.0:1.0	.	556;562	E7EMW7;O95071	.;UBR5_HUMAN	V	562;562;556	ENSP00000429084:M562V;ENSP00000220959:M562V;ENSP00000427819:M556V	ENSP00000220959:M562V	M	-	1	0	UBR5	103404815	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.756000	0.47549	2.149000	0.67028	0.482000	0.46254	ATG		0.363	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		16	29	0	0	0	1	0	16	29				
UGT2A1	10941	broad.mit.edu	37	4	70455139	70455139	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:70455139A>T	ENST00000503640.1	-	6	1590	c.1535T>A	c.(1534-1536)tTt>tAt	p.F512Y	UGT2A1_ENST00000512704.1_Missense_Mutation_p.F468Y|UGT2A1_ENST00000286604.4_Missense_Mutation_p.F512Y|UGT2A2_ENST00000457664.2_Missense_Mutation_p.F521Y|UGT2A1_ENST00000514019.1_Missense_Mutation_p.F678Y|UGT2A1_ENST00000502343.1_5'Flank	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	512					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTGACAGGAAAACAAACAACA	0.353																																						ENST00000503640.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1534-1536)tTt>tAt		UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus							63.0	66.0	65.0					4																	70455139		2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70455139A>T	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1535T>A	4.37:g.70455139A>T	ENSP00000424478:p.Phe512Tyr					UGT2A2_ENST00000457664.2_Missense_Mutation_p.F521Y|UGT2A1_ENST00000514019.1_Missense_Mutation_p.F678Y|UGT2A1_ENST00000512704.1_Missense_Mutation_p.F468Y|UGT2A1_ENST00000286604.4_Missense_Mutation_p.F512Y	p.F512Y	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN			6	1590	-			512					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.1535T>A	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	A	10.01	1.233848	0.22626	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	5.08	3.9	0.45041	.	0.052270	0.85682	D	0.000000	T	0.66723	0.2818	L	0.50333	1.59	.	.	.	P;D;P;D;P	0.89917	0.747;1.0;0.747;0.996;0.747	P;D;P;D;P	0.77004	0.451;0.989;0.451;0.979;0.451	T	0.71344	-0.4621	9	0.33141	T	0.24	.	10.2806	0.43537	0.8165:0.1835:0.0:0.0	.	678;678;468;521;512	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	Y	521;512;468;678;512	ENSP00000387888:F521Y;ENSP00000424478:F512Y;ENSP00000421432:F468Y;ENSP00000425497:F678Y;ENSP00000286604:F512Y	ENSP00000286604:F512Y	F	-	2	0	UGT2A1	70489728	1.000000	0.71417	0.064000	0.19789	0.013000	0.08279	3.121000	0.50438	0.878000	0.35920	0.472000	0.43445	TTT		0.353	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		27	55	0	0	0	1	0	27	55				
MUC16	94025	broad.mit.edu	37	19	9088171	9088171	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr19:9088171C>A	ENST00000397910.4	-	1	3847	c.3644G>T	c.(3643-3645)aGc>aTc	p.S1215I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1215	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						AACCAGGGTGCTTTTTCCTAT	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.(3643-3645)aGc>aTc		mucin 16, cell surface associated							232.0	225.0	228.0					19																	9088171		2069	4218	6287	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088171C>A	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.3644G>T	19.37:g.9088171C>A	ENSP00000381008:p.Ser1215Ile						p.S1215I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	3847	-			1215			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3644G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.618	-0.522126	0.04171	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	1.38	-1.18	0.09617	.	.	.	.	.	T	0.01454	0.0047	N	0.08118	0	.	.	.	B	0.30664	0.289	B	0.23716	0.048	T	0.44574	-0.9319	8	0.87932	D	0	.	4.1101	0.10055	0.0:0.5509:0.0:0.4491	.	1215	B5ME49	.	I	1215	ENSP00000381008:S1215I	ENSP00000381008:S1215I	S	-	2	0	MUC16	8949171	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.901000	0.04093	-0.265000	0.09352	0.305000	0.20034	AGC		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		77	133	1	0	8.07507e-42	1	9.00681e-42	77	133				
EDA2R	60401	broad.mit.edu	37	X	65835830	65835830	+	Silent	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chrX:65835830T>C	ENST00000374719.3	-	2	89	c.33A>G	c.(31-33)caA>caG	p.Q11Q	EDA2R_ENST00000450752.1_Silent_p.Q11Q|EDA2R_ENST00000456230.2_Silent_p.Q11Q|EDA2R_ENST00000396050.1_Silent_p.Q11Q|EDA2R_ENST00000253392.5_Silent_p.Q11Q|EDA2R_ENST00000451436.2_Missense_Mutation_p.N6S	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	11					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						ACCGTCCCCATTGGTCCCAGT	0.483																																						ENST00000451436.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						c.(16-18)aAt>aGt		ectodysplasin A2 receptor							138.0	103.0	115.0					X																	65835830		2203	4300	6503	SO:0001819	synonymous_variant	60401				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	g.chrX:65835830T>C	AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"""Tumor necrosis factor receptor superfamily"""	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.33A>G	X.37:g.65835830T>C						EDA2R_ENST00000396050.1_Silent_p.Q11Q|EDA2R_ENST00000456230.2_Silent_p.Q11Q|EDA2R_ENST00000374719.3_Silent_p.Q11Q|EDA2R_ENST00000450752.1_Silent_p.Q11Q|EDA2R_ENST00000253392.5_Silent_p.Q11Q	p.N6S			Q9HAV5	TNR27_HUMAN			2	98	-			0					Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Missense_Mutation	SNP	ENST00000374719.3	37	c.17A>G	CCDS14386.1	.	.	.	.	.	.	.	.	.	.	T	7.274	0.607697	0.14002	.	.	ENSG00000131080	ENST00000451436	.	.	.	4.56	0.883	0.19177	.	.	.	.	.	T	0.25865	0.0630	.	.	.	0.21220	N	0.999752	P	0.35745	0.518	B	0.33392	0.163	T	0.15867	-1.0422	7	0.87932	D	0	.	5.928	0.19122	0.0:0.5453:0.0:0.4547	.	6	E7EUS4	.	S	6	.	ENSP00000415242:N6S	N	-	2	0	EDA2R	65752555	1.000000	0.71417	0.991000	0.47740	0.833000	0.47200	0.642000	0.24735	0.049000	0.15920	-0.323000	0.08544	AAT		0.483	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057002.1	NM_021783		14	4	0	0	0	1	0	14	4				
FGA	2243	broad.mit.edu	37	4	155505789	155505789	+	Silent	SNP	G	G	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:155505789G>A	ENST00000302053.3	-	6	2166	c.2088C>T	c.(2086-2088)ttC>ttT	p.F696F		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	696	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCAGGCTGCCGAAACCTCTCT	0.488																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(2086-2088)ttC>ttT		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						100.0	95.0	97.0					4																	155505789		2203	4300	6503	SO:0001819	synonymous_variant	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155505789G>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2088C>T	4.37:g.155505789G>A							p.F696F	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			6	2166	-	all_hematologic(180;0.215)	Renal(120;0.0458)	696			Fibrinogen C-terminal.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Silent	SNP	ENST00000302053.3	37	c.2088C>T	CCDS3787.1																																																																																				0.488	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		22	53	0	0	0	1	0	22	53				
DISP1	84976	broad.mit.edu	37	1	223176649	223176649	+	Missense_Mutation	SNP	C	C	T	rs148231227		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:223176649C>T	ENST00000284476.6	+	8	2074	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	637	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.A637V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGGTTTATGCGGGGACAGCT	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21104	0.0		0.0	False		,,,				2504	0.0					ENST00000284476.6																			1	Substitution - Missense(1)	p.A637V(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1909-1911)gCg>gTg		dispatched homolog 1 (Drosophila)							117.0	107.0	111.0					1																	223176649		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176649C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1910C>T	1.37:g.223176649C>T	ENSP00000284476:p.Ala637Val						p.A637V	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2074	+			637			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1910C>T	CCDS1536.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.67	2.902435	0.52227	.	.	ENSG00000154309	ENST00000284476	D	0.90900	-2.75	5.91	5.91	0.95273	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.94353	0.7581	10	0.49607	T	0.09	-33.4464	20.2983	0.98569	0.0:1.0:0.0:0.0	.	637	Q96F81	DISP1_HUMAN	V	637	ENSP00000284476:A637V	ENSP00000284476:A637V	A	+	2	0	DISP1	221243272	1.000000	0.71417	0.564000	0.28396	0.121000	0.20230	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	GCG		0.448	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		5	180	0	0	0	1	0	5	180				
NT5C2	22978	broad.mit.edu	37	10	104934622	104934622	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr10:104934622A>T	ENST00000404739.3	-	1	117	c.94T>A	c.(94-96)Tat>Aat	p.Y32N	NT5C2_ENST00000343289.5_Missense_Mutation_p.Y32N|NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000470299.1_Missense_Mutation_p.Y32N			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	32					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	TACCGATGATAGGCTTCTCGA	0.383																																						ENST00000343289.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16						c.(94-96)Tat>Aat		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)						219.0	202.0	208.0					10																	104934622		2203	4300	6503	SO:0001583	missense	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104934622A>T	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.94T>A	10.37:g.104934622A>T	ENSP00000383960:p.Tyr32Asn					NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000470299.1_Missense_Mutation_p.Y32N|NT5C2_ENST00000404739.3_Missense_Mutation_p.Y32N	p.Y32N	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	2	181	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	32					B7Z382|D3DR91|Q5JUV5	Missense_Mutation	SNP	ENST00000404739.3	37	c.94T>A	CCDS7544.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.045018	0.36085	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000452156	T;T;T	0.16324	2.35;2.35;2.35	5.39	5.39	0.77823	HAD-like domain (1);	0.184661	0.48767	D	0.000162	T	0.10895	0.0266	N	0.14661	0.345	0.80722	D	1	B	0.24258	0.1	B	0.11329	0.006	T	0.16394	-1.0404	10	0.27785	T	0.31	-4.5084	14.3952	0.67005	1.0:0.0:0.0:0.0	.	32	P49902	5NTC_HUMAN	N	32	ENSP00000339479:Y32N;ENSP00000383960:Y32N;ENSP00000396468:Y32N	ENSP00000339479:Y32N	Y	-	1	0	NT5C2	104924612	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.498000	0.66931	2.024000	0.59613	0.528000	0.53228	TAT		0.383	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229		28	82	0	0	0	1	0	28	82				
SPRR1B	6699	broad.mit.edu	37	1	153004933	153004933	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:153004933A>G	ENST00000307098.4	+	2	177	c.112A>G	c.(112-114)Aag>Gag	p.K38E	SPRR1B_ENST00000392661.3_Missense_Mutation_p.K38E	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	38	6 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCAAAACCAAGGAGCCCTG	0.642																																						ENST00000307098.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9						c.(112-114)Aag>Gag		small proline-rich protein 1B							143.0	141.0	142.0					1																	153004933		2203	4300	6503	SO:0001583	missense	6699				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:153004933A>G	M84757	CCDS30863.1	1q21-q22	2010-06-25	2010-06-25		ENSG00000169469	ENSG00000169469			11260	protein-coding gene	gene with protein product	"""cornifin"""	182266		SPRR1		8325635, 1438308	Standard	NM_003125		Approved	GADD33	uc001fba.3	P22528	OTTHUMG00000013869	ENST00000307098.4:c.112A>G	1.37:g.153004933A>G	ENSP00000306461:p.Lys38Glu					SPRR1B_ENST00000392661.3_Missense_Mutation_p.K38E	p.K38E	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	177	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		38			6 X 8 AA approximate tandem repeats.		B2R5H7|P22529|P22530|Q5T524	Missense_Mutation	SNP	ENST00000307098.4	37	c.112A>G	CCDS30863.1	.	.	.	.	.	.	.	.	.	.	A	5.846	0.340220	0.11069	.	.	ENSG00000169469	ENST00000307098;ENST00000392661	T;T	0.14266	2.52;2.52	4.86	0.858	0.19030	.	.	.	.	.	T	0.03348	0.0097	.	.	.	0.09310	N	1	B	0.27013	0.166	B	0.28011	0.085	T	0.42032	-0.9475	8	0.56958	D	0.05	-6.4302	5.4822	0.16729	0.4468:0.3876:0.0:0.1656	.	38	P22528	SPR1B_HUMAN	E	38	ENSP00000306461:K38E;ENSP00000376429:K38E	ENSP00000306461:K38E	K	+	1	0	SPRR1B	151271557	0.179000	0.23135	0.380000	0.26093	0.029000	0.11900	0.470000	0.22084	0.205000	0.20568	-0.331000	0.08364	AAG		0.642	SPRR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038906.1	NM_003125		6	95	0	0	0	1	0	6	95				
CHEK1	1111	broad.mit.edu	37	11	125497608	125497608	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr11:125497608A>G	ENST00000534070.1	+	3	427	c.172A>G	c.(172-174)Atc>Gtc	p.I58V	CHEK1_ENST00000532449.1_Intron|CHEK1_ENST00000278916.3_Missense_Mutation_p.I58V|CHEK1_ENST00000438015.1_Missense_Mutation_p.I58V|CHEK1_ENST00000524737.1_Missense_Mutation_p.I58V|CHEK1_ENST00000544373.1_Missense_Mutation_p.I58V|CHEK1_ENST00000427383.2_Intron|CHEK1_ENST00000428830.2_Missense_Mutation_p.I58V	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	58	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		AGAGATCTGTATCAATAAAAT	0.363								Other conserved DNA damage response genes																														ENST00000534070.1																			0				central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26						c.(172-174)Atc>Gtc	Other conserved DNA damage response genes	checkpoint kinase 1							79.0	84.0	82.0					11																	125497608		2201	4299	6500	SO:0001583	missense	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125497608A>G	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.172A>G	11.37:g.125497608A>G	ENSP00000435371:p.Ile58Val					CHEK1_ENST00000438015.1_Missense_Mutation_p.I58V|CHEK1_ENST00000428830.2_Missense_Mutation_p.I58V|CHEK1_ENST00000427383.2_Intron|CHEK1_ENST00000278916.3_Missense_Mutation_p.I58V|CHEK1_ENST00000532449.1_Intron|CHEK1_ENST00000524737.1_Missense_Mutation_p.I58V|CHEK1_ENST00000544373.1_Missense_Mutation_p.I58V	p.I58V	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	3	427	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	58			Protein kinase.		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	ENST00000534070.1	37	c.172A>G	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.388324	0.61956	.	.	ENSG00000149554	ENST00000438015;ENST00000525396;ENST00000428830;ENST00000544373;ENST00000527013;ENST00000526937;ENST00000534685;ENST00000534070;ENST00000524737;ENST00000278916	T;T;T;T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.3	5.3	0.74995	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.115692	0.56097	D	0.000031	T	0.61464	0.2349	L	0.42686	1.345	0.58432	D	0.999999	B;B;B	0.33807	0.372;0.426;0.426	B;B;B	0.42062	0.368;0.374;0.374	T	0.60616	-0.7228	10	0.36615	T	0.2	.	15.2606	0.73617	1.0:0.0:0.0:0.0	.	58;58;58	F5H7S4;B5BTY6;O14757	.;.;CHK1_HUMAN	V	58	ENSP00000388648:I58V;ENSP00000434141:I58V;ENSP00000412504:I58V;ENSP00000442317:I58V;ENSP00000431525:I58V;ENSP00000431815:I58V;ENSP00000432470:I58V;ENSP00000435371:I58V;ENSP00000432890:I58V;ENSP00000278916:I58V	ENSP00000278916:I58V	I	+	1	0	CHEK1	125002818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.465000	0.60141	2.145000	0.66743	0.529000	0.55759	ATC		0.363	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274		20	30	0	0	0	1	0	20	30				
FAM217A	222826	broad.mit.edu	37	6	4069947	4069947	+	Silent	SNP	A	A	G			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr6:4069947A>G	ENST00000274673.3	-	7	913	c.510T>C	c.(508-510)tgT>tgC	p.C170C	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	170																	CTATAGTTGAACATGAACTAA	0.393																																						ENST00000274673.3																			0											c.(508-510)tgT>tgC		family with sequence similarity 217, member A							116.0	107.0	110.0					6																	4069947		2203	4300	6503	SO:0001819	synonymous_variant	222826							g.chr6:4069947A>G	BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 146"""	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.510T>C	6.37:g.4069947A>G						FAM217A_ENST00000380188.2_5'UTR	p.C170C	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN			7	913	-			170					Q5JYK1	Silent	SNP	ENST00000274673.3	37	c.510T>C	CCDS4489.1																																																																																				0.393	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563		30	35	0	0	0	1	0	30	35				
CDH18	1016	broad.mit.edu	37	5	19839062	19839062	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:19839062C>T	ENST00000507958.1	-	5	1024	c.34G>A	c.(34-36)Gtc>Atc	p.V12I	CDH18_ENST00000506372.1_Missense_Mutation_p.V12I|CDH18_ENST00000511273.1_Missense_Mutation_p.V12I|CDH18_ENST00000382275.1_Missense_Mutation_p.V12I|CDH18_ENST00000274170.4_Missense_Mutation_p.V12I|CDH18_ENST00000502796.1_Missense_Mutation_p.V12I			Q13634	CAD18_HUMAN	cadherin 18, type 2	12					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CACACTAGGACTGGACAGATG	0.423																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(34-36)Gtc>Atc		cadherin 18, type 2							171.0	142.0	152.0					5																	19839062		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19839062C>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.34G>A	5.37:g.19839062C>T	ENSP00000425093:p.Val12Ile					CDH18_ENST00000511273.1_Missense_Mutation_p.V12I|CDH18_ENST00000382275.1_Missense_Mutation_p.V12I|CDH18_ENST00000506372.1_Missense_Mutation_p.V12I|CDH18_ENST00000502796.1_Missense_Mutation_p.V12I|CDH18_ENST00000274170.4_Missense_Mutation_p.V12I	p.V12I			Q13634	CAD18_HUMAN			5	1024	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		12					A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.34G>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173427	0.38413	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	5.93	5.93	0.95920	.	0.116294	0.64402	D	0.000015	T	0.18257	0.0438	N	0.08118	0	0.37696	D	0.924014	B;B	0.29037	0.231;0.131	B;B	0.25140	0.058;0.058	T	0.14755	-1.0461	9	.	.	.	.	18.9006	0.92440	0.0:1.0:0.0:0.0	.	12;12	B4DHG6;Q13634	.;CAD18_HUMAN	I	12	ENSP00000371710:V12I;ENSP00000425093:V12I;ENSP00000274170:V12I;ENSP00000424931:V12I;ENSP00000422138:V12I;ENSP00000425854:V12I	.	V	-	1	0	CDH18	19874819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.562000	0.60816	2.805000	0.96524	0.655000	0.94253	GTC		0.423	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		21	39	0	0	0	1	0	21	39				
HMCN1	83872	broad.mit.edu	37	1	185959534	185959534	+	Silent	SNP	T	T	C			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:185959534T>C	ENST00000271588.4	+	22	3565	c.3336T>C	c.(3334-3336)acT>acC	p.T1112T	HMCN1_ENST00000367492.2_Silent_p.T1112T|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1112	Ig-like C2-type 8.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			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						CCATAATTACTTGGGCCAAAG	0.478																																						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.(3334-3336)acT>acC		hemicentin 1							148.0	135.0	140.0					1																	185959534		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185959534T>C	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.3336T>C	1.37:g.185959534T>C						HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.T1112T	p.T1112T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			22	3565	+			1112			Ig-like C2-type 8.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.3336T>C	CCDS30956.1																																																																																				0.478	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		44	48	0	0	0	1	0	44	48				
DHX29	54505	broad.mit.edu	37	5	54573002	54573002	+	Missense_Mutation	SNP	C	C	T	rs374681347		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:54573002C>T	ENST00000251636.5	-	13	2366	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	740	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GAAAATTTTTCGCTGTCCACA	0.363																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(2218-2220)Gaa>Aaa		DEAH (Asp-Glu-Ala-His) box polypeptide 29		C	LYS/GLU	0,4406		0,0,2203	77.0	79.0	78.0		2218	5.9	1.0	5		78	1,8599	1.2+/-3.3	0,1,4299	no	missense	DHX29	NM_019030.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	740/1370	54573002	1,13005	2203	4300	6503	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54573002C>T	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2218G>A	5.37:g.54573002C>T	ENSP00000251636:p.Glu740Lys					RP11-506H20.1_ENST00000506435.1_RNA	p.E740K	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			13	2366	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	740			Helicase ATP-binding.		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.2218G>A	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324176	0.60634	0.0	1.16E-4	ENSG00000067248	ENST00000251636	T	0.33654	1.4	5.91	5.91	0.95273	DEAD-like helicase (2);	0.342583	0.37809	N	0.001934	T	0.36963	0.0986	L	0.42008	1.315	0.44976	D	0.997994	B	0.15141	0.012	B	0.15484	0.013	T	0.06075	-1.0847	10	0.46703	T	0.11	.	20.3052	0.98627	0.0:1.0:0.0:0.0	.	740	Q7Z478	DHX29_HUMAN	K	740	ENSP00000251636:E740K	ENSP00000251636:E740K	E	-	1	0	DHX29	54608759	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.207000	0.42788	2.814000	0.96858	0.650000	0.86243	GAA		0.363	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		6	78	0	0	0	1	0	6	78				
ZNF354A	6940	broad.mit.edu	37	5	178152410	178152410	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:178152410C>A	ENST00000335815.2	-	4	420	c.223G>T	c.(223-225)Gtg>Ttg	p.V75L		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	75	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|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)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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)	all cancers(165;0.185)		TCTTTCTCCACCTCCCAGGGA	0.507																																						ENST00000335815.2																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19						c.(223-225)Gtg>Ttg		zinc finger protein 354A							149.0	141.0	144.0					5																	178152410		2203	4300	6503	SO:0001583	missense	6940				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178152410C>A	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.223G>T	5.37:g.178152410C>A	ENSP00000337122:p.Val75Leu						p.V75L	NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	4	420	-	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	75			KRAB.		Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	c.223G>T	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	C	0.333	-0.954838	0.02285	.	.	ENSG00000169131	ENST00000335815;ENST00000520331	T;T	0.05513	3.43;6.21	3.25	3.25	0.37280	Krueppel-associated box (1);	.	.	.	.	T	0.04048	0.0113	N	0.12502	0.225	0.22648	N	0.998897	B	0.02656	0.0	B	0.04013	0.001	T	0.33033	-0.9884	9	0.36615	T	0.2	-2.0433	8.6515	0.34038	0.0:0.7642:0.2357:0.0	.	75	O60765	Z354A_HUMAN	L	75	ENSP00000337122:V75L;ENSP00000429675:V75L	ENSP00000337122:V75L	V	-	1	0	ZNF354A	178085016	0.001000	0.12720	0.973000	0.42090	0.274000	0.26718	0.335000	0.19806	2.117000	0.64856	0.561000	0.74099	GTG		0.507	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		46	50	1	0	2.27781e-18	1	2.4167e-18	46	50				
PTH2R	5746	broad.mit.edu	37	2	209358134	209358135	+	Frame_Shift_Ins	INS	-	-	CACA			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr2:209358134_209358135insCACA	ENST00000272847.2	+	13	1616_1617	c.1403_1404insCACA	c.(1402-1407)agcacafs	p.-469fs	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.S468N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	GTGGCGGCCAGCACACGCATGG	0.594																																						ENST00000272847.2																			1	Substitution - Missense(1)	p.S468N(1)	lung(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1402-1404)aacfs		parathyroid hormone 2 receptor																																				SO:0001589	frameshift_variant	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209358134_209358135insCACA	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1404_1407dupCACA	2.37:g.209358135_209358138dupCACA	ENSP00000272847:p.Thr469fs					AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	p.N468fs	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	13	1616_1617	+			468					Q8N429	Frame_Shift_Ins	INS	ENST00000272847.2	37	c.1403_1404insCACA	CCDS2383.1																																																																																				0.594	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		7	18						7	18	---	---	---	---
HSPD1P6	645548	broad.mit.edu	37	3	36810381	36810381	+	RNA	DEL	T	T	-			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr3:36810381delT	ENST00000424886.1	-	0	405									heat shock 60kDa protein 1 (chaperonin) pseudogene 6																		GAGTGAGGCCttttttttttt	0.542																																						ENST00000424886.1																			0																																																			0							g.chr3:36810381delT			3p22.3	2010-06-25	2002-08-29	2008-09-22	ENSG00000230067	ENSG00000230067			5267	pseudogene	pseudogene			"""heat shock 60kD protein 1 (chaperonin) pseudogene 6"""	HSPDP6			Standard	NG_008828		Approved	HSPD1-6P			OTTHUMG00000155803		3.37:g.36810381delT														0	405	-									RNA	DEL	ENST00000424886.1	37																																																																																						0.542	HSPD1P6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341724.1	XR_017400		3	4						3	4	---	---	---	---
TDRP	157695	broad.mit.edu	37	8	494659	494664	+	In_Frame_Del	DEL	GGCGGC	GGCGGC	-	rs71202629	byFrequency	TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr8:494659_494664delGGCGGC	ENST00000324079.6	-	1	334_339	c.94_99delGCCGCC	c.(94-99)gccgccdel	p.AA32del	TDRP_ENST00000427263.2_In_Frame_Del_p.AA32del|TDRP_ENST00000523656.1_In_Frame_Del_p.AA32del			Q86YL5	TDRP_HUMAN	testis development related protein	32	Poly-Ala.				spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A32_A33delAA(1)									CCTGCGCCTGggcggcggcggcggcg	0.782														1130	0.225639	0.056	0.4049	5008	,	,		8817	0.1677		0.3439	False		,,,				2504	0.2658					ENST00000324079.6																			1	Deletion - In frame(1)	p.A32_A33delAA(1)	upper_aerodigestive_tract(1)								c.(94-99)del		testis development related protein				110,14,698		47,1,15,6,1,341						1.0	0.0		dbSNP_134	2	1280,14,1322		556,0,168,7,0,577	no	codingComplex	C8orf42	NM_175075.3		603,1,183,13,1,918	A1A1,A1A2,A1R,A2A2,A2R,RR		49.4648,15.0852,41.2449				1390,28,2020				SO:0001651	inframe_deletion	157695							g.chr8:494659_494664delGGCGGC	AY194292	CCDS47759.1, CCDS59090.1	8p23.3	2013-06-03	2013-06-03	2013-06-03	ENSG00000180190	ENSG00000180190			26951	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 42"""	C8orf42		20170638	Standard	NM_175075		Approved	INM01, TDRP1, TDRP2		Q86YL5	OTTHUMG00000163593	ENST00000324079.6:c.94_99delGCCGCC	8.37:g.494665_494670delGGCGGC	ENSP00000315111:p.Ala32_Ala33del					TDRP_ENST00000523656.1_In_Frame_Del_p.AA32del|TDRP_ENST00000427263.2_In_Frame_Del_p.AA32del	p.AA32del							1	334_339	-								B6VF03|B9EG53	In_Frame_Del	DEL	ENST00000324079.6	37	c.94_99delGCCGCC	CCDS47759.1																																																																																				0.782	TDRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374442.1	NM_175075		6	7						6	7	---	---	---	---
KRT76	51350	broad.mit.edu	37	12	53162773	53162775	+	In_Frame_Del	DEL	ACT	ACT	-	rs1464423|rs370657661|rs576463918|rs201384439	byFrequency	TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr12:53162773_53162775delACT	ENST00000332411.2	-	9	1692_1694	c.1639_1641delAGT	c.(1639-1641)agtdel	p.S547del		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	547	Tail.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.S547_G548insS(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ctccatagccactgctgctgctg	0.635																																						ENST00000332411.2																			1	Insertion - In frame(1)	p.S547_G548insS(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1639-1641)del		keratin 76																																				SO:0001651	inframe_deletion	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53162773_53162775delACT	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1639_1641delAGT	12.37:g.53162773_53162775delACT	ENSP00000330101:p.Ser547del						p.S547del	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			9	1692_1694	-			547			Tail.		B4DRR3|Q7Z795	In_Frame_Del	DEL	ENST00000332411.2	37	c.1639_1641delAGT	CCDS8838.1																																																																																				0.635	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		2	4						2	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577049	7577049	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr17:7577049delG	ENST00000269305.4	-	8	1078	c.889delC	c.(889-891)cacfs	p.H297fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.H297fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.H297fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.H297fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Frame_Shift_Del_p.H297fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	297	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		H -> D (in a sporadic cancer; somatic mutation).|H -> N (in a sporadic cancer; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K291fs*48(8)|p.0?(8)|p.H297Y(5)|p.?(2)|p.H297N(1)|p.L265_K305del41(1)|p.G293fs*1(1)|p.H296_S303delHHELPPGS(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAGCTCGTGGTGAGGCTCC	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		27	Deletion - Frameshift(9)|Whole gene deletion(8)|Substitution - Missense(6)|Unknown(2)|Deletion - In frame(2)	p.K291fs*48(8)|p.0?(8)|p.H297Y(5)|p.?(2)|p.H297N(1)|p.L265_K305del41(1)|p.G293fs*1(1)|p.H296_S303delHHELPPGS(1)	upper_aerodigestive_tract(7)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(2)|lung(2)|large_intestine(1)|stomach(1)|salivary_gland(1)|urinary_tract(1)|breast(1)|skin(1)|eye(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(889-891)acfs	Other conserved DNA damage response genes	tumor protein p53							110.0	96.0	100.0					17																	7577049		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577049delG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.889delC	17.37:g.7577049delG	ENSP00000269305:p.His297fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Frame_Shift_Del_p.H297fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.H297fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.H297fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.H297fs	p.H297fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1021	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	297		H -> D (in a sporadic cancer; somatic mutation).|H -> N (in a sporadic cancer; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.889delC	CCDS11118.1																																																																																				0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	28						19	28	---	---	---	---
C21orf33	8209	broad.mit.edu	37	21	45553593	45553593	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr21:45553593delG	ENST00000291577.6	+	1	107	c.14delG	c.(13-15)aggfs	p.R5fs	C21orf33_ENST00000348499.5_Frame_Shift_Del_p.R5fs|C21orf33_ENST00000427803.2_Frame_Shift_Del_p.R5fs|C21orf33_ENST00000493883.1_3'UTR	NM_004649.6	NP_004640	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	5						mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		GCGGCTGTGAGGGTCCTGGTG	0.687																																						ENST00000291577.6																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(13-15)agfs		chromosome 21 open reading frame 33							27.0	22.0	24.0					21																	45553593		2199	4292	6491	SO:0001589	frameshift_variant	8209					mitochondrion		g.chr21:45553593delG	Y07572	CCDS33580.1, CCDS33581.1	21q22.3	2008-07-29			ENSG00000160221	ENSG00000160221			1273	protein-coding gene	gene with protein product		601659				9150728, 8975701	Standard	NM_004649		Approved	KNP-Ia, GT335, ES1, HES1, D21S2048E, KNPI, KNPH, KNP-I	uc002zec.4	P30042	OTTHUMG00000086916	ENST00000291577.6:c.14delG	21.37:g.45553593delG	ENSP00000291577:p.Arg5fs					C21orf33_ENST00000493883.1_3'UTR|C21orf33_ENST00000348499.5_Frame_Shift_Del_p.R5fs|C21orf33_ENST00000427803.2_Frame_Shift_Del_p.R5fs	p.R5fs	NM_004649.6	NP_004640.3	P30042	ES1_HUMAN		STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)	1	107	+			5					A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Frame_Shift_Del	DEL	ENST00000291577.6	37	c.14delG	CCDS33580.1																																																																																				0.687	C21orf33-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195824.1	NM_004649		2	4						2	4	---	---	---	---
