#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
SLC39A8	64116	broad.mit.edu	37	4	103228643	103228643	+	Missense_Mutation	SNP	G	G	C			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr4:103228643G>C	ENST00000394833.2	-	3	978	c.502C>G	c.(502-504)Ctg>Gtg	p.L168V	SLC39A8_ENST00000510255.1_5'UTR|SLC39A8_ENST00000424970.2_Missense_Mutation_p.L168V|SLC39A8_ENST00000356736.4_Missense_Mutation_p.L168V	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	168					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		CCAATAGCCAGCCCCACAAAA	0.363																																						ENST00000424970.2																			0				large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(502-504)Ctg>Gtg		solute carrier family 39 (zinc transporter), member 8							121.0	137.0	132.0					4																	103228643		2203	4299	6502	SO:0001583	missense	64116					integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr4:103228643G>C		CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"""Solute carriers"""	20862	protein-coding gene	gene with protein product		608732	"""solute carrier family 39 (metal ion transporter), member 8"""			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.502C>G	4.37:g.103228643G>C	ENSP00000378310:p.Leu168Val					SLC39A8_ENST00000394833.2_Missense_Mutation_p.L168V|SLC39A8_ENST00000510255.1_5'UTR|SLC39A8_ENST00000356736.4_Missense_Mutation_p.L168V	p.L168V	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)	4	817	-		Hepatocellular(203;0.217)	168					B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Missense_Mutation	SNP	ENST00000394833.2	37	c.502C>G	CCDS3656.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718928	0.68844	.	.	ENSG00000138821	ENST00000424970;ENST00000356736;ENST00000394833	T;T;T	0.53423	0.62;0.62;0.62	5.54	3.8	0.43715	.	0.000000	0.64402	D	0.000007	T	0.65302	0.2678	M	0.73962	2.25	0.58432	D	0.999998	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.97110	0.989;0.992;1.0	T	0.68269	-0.5453	10	0.87932	D	0	-27.8292	9.8834	0.41247	0.23:0.0:0.77:0.0	.	168;168;101	B4E2H3;Q9C0K1;Q9C0K1-2	.;S39A8_HUMAN;.	V	168	ENSP00000394548:L168V;ENSP00000349174:L168V;ENSP00000378310:L168V	ENSP00000349174:L168V	L	-	1	2	SLC39A8	103447666	0.986000	0.35501	0.989000	0.46669	0.993000	0.82548	1.935000	0.40173	1.347000	0.45714	-0.140000	0.14226	CTG		0.363	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253798.1	NM_022154		5	132	0	0	0	1	0	5	132				
TRPM8	79054	broad.mit.edu	37	2	234891753	234891753	+	Silent	SNP	C	C	T	rs144605883		TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr2:234891753C>T	ENST00000324695.4	+	20	2686	c.2646C>T	c.(2644-2646)ggC>ggT	p.G882G	TRPM8_ENST00000433712.2_Silent_p.G460G	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	882					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGGCCTTTGGCGTGGCCAGGC	0.592																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(2644-2646)ggC>ggT		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)	C		1,4405	2.1+/-5.4	0,1,2202	229.0	197.0	208.0		2646	-11.6	0.0	2	dbSNP_134	208	0,8600		0,0,4300	no	coding-synonymous	TRPM8	NM_024080.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		882/1105	234891753	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234891753C>T	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2646C>T	2.37:g.234891753C>T						TRPM8_ENST00000433712.2_Silent_p.G460G	p.G882G	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	20	2686	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	882					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.2646C>T	CCDS33407.1																																																																																				0.592	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		4	160	0	0	0	1	0	4	160				
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52.0	62.0	59.0					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		3	60	0	0	0	1	0	3	60				
TRPM6	140803	broad.mit.edu	37	9	77354692	77354692	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr9:77354692G>A	ENST00000360774.1	-	34	5671	c.5434C>T	c.(5434-5436)Cgg>Tgg	p.R1812W	TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1816W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1812	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGCCATGTCCGCACAACCTCA	0.488																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(5446-5448)Cgg>Tgg		transient receptor potential cation channel, subfamily M, member 6							147.0	146.0	146.0					9																	77354692		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77354692G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5434C>T	9.37:g.77354692G>A	ENSP00000354006:p.Arg1812Trp					TRPM6_ENST00000360774.1_Missense_Mutation_p.R1812W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W	p.R1816W			Q9BX84	TRPM6_HUMAN			33	5683	-			1812			Alpha-type protein kinase.		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.5446C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782492	0.49891	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2	5.96	4.12	0.48240	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.422510	0.29410	N	0.012235	T	0.17831	0.0428	L	0.27053	0.805	0.27804	N	0.942373	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.996;0.995;0.995	D;D;D;P;B;B	0.74023	0.982;0.982;0.982;0.545;0.409;0.409	T	0.04191	-1.0970	10	0.72032	D	0.01	.	15.6115	0.76721	0.0:0.0:0.7486:0.2514	.	359;645;763;1812;1807;1807	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	W	1812;1816;767;649;1807;1807;358;1816	ENSP00000354006:R1812W;ENSP00000407341:R1816W;ENSP00000366068:R767W;ENSP00000366067:R649W;ENSP00000396672:R1807W;ENSP00000354962:R1807W;ENSP00000366060:R1816W	ENSP00000354006:R1812W	R	-	1	2	TRPM6	76544512	0.749000	0.28305	0.927000	0.36925	0.165000	0.22458	2.006000	0.40874	0.845000	0.35118	-0.953000	0.02652	CGG		0.488	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		4	120	0	0	0	1	0	4	120				
SERPINA10	51156	broad.mit.edu	37	14	94756360	94756360	+	Missense_Mutation	SNP	C	C	A	rs533103231		TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr14:94756360C>A	ENST00000393096.1	-	2	1036	c.571G>T	c.(571-573)Gtg>Ttg	p.V191L	SERPINA10_ENST00000554173.1_Missense_Mutation_p.V191L|SERPINA10_ENST00000261994.4_Missense_Mutation_p.V191L|SERPINA10_ENST00000554723.1_Missense_Mutation_p.V231L	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	191					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TTCATAGGCACGCACTCTGTA	0.418																																						ENST00000554723.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(691-693)Gtg>Ttg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10							91.0	93.0	92.0					14																	94756360		2203	4300	6503	SO:0001583	missense	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94756360C>A	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.571G>T	14.37:g.94756360C>A	ENSP00000376809:p.Val191Leu					SERPINA10_ENST00000554173.1_Missense_Mutation_p.V191L|SERPINA10_ENST00000393096.1_Missense_Mutation_p.V191L|SERPINA10_ENST00000261994.4_Missense_Mutation_p.V191L	p.V231L			Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	1109	-		all_cancers(154;0.105)	191					A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	c.691G>T	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	C	0.086	-1.174926	0.01646	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	4.8	1.89	0.25635	Serpin domain (3);	0.378221	0.21157	N	0.079223	T	0.66107	0.2756	N	0.21240	0.645	0.09310	N	1	B	0.18461	0.028	B	0.22601	0.04	T	0.49570	-0.8926	10	0.27785	T	0.31	.	2.587	0.04833	0.2354:0.4836:0.1284:0.1527	.	191	Q9UK55	ZPI_HUMAN	L	231;191;191;191	ENSP00000450896:V231L;ENSP00000376809:V191L;ENSP00000261994:V191L;ENSP00000450971:V191L	ENSP00000261994:V191L	V	-	1	0	SERPINA10	93826113	0.000000	0.05858	0.003000	0.11579	0.131000	0.20780	-0.018000	0.12568	0.431000	0.26258	0.313000	0.20887	GTG		0.418	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		4	80	1	0	0.150653	1	0.163208	4	80				
NKAP	79576	broad.mit.edu	37	X	119059273	119059273	+	Missense_Mutation	SNP	G	G	T			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chrX:119059273G>T	ENST00000371410.3	-	9	1324	c.1158C>A	c.(1156-1158)aaC>aaA	p.N386K	AC002477.1_ENST00000581061.1_RNA|RP3-327A19.5_ENST00000455986.1_RNA|NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	386	Necessary for interaction with HDAC3 and transcriptional repression.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TCTCTTCTTGGTTAAAGGATG	0.438																																						ENST00000371410.3																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						c.(1156-1158)aaC>aaA		NFKB activating protein							157.0	144.0	148.0					X																	119059273		2203	4300	6503	SO:0001583	missense	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119059273G>T	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.1158C>A	X.37:g.119059273G>T	ENSP00000360464:p.Asn386Lys					NKAP_ENST00000477789.1_5'UTR	p.N386K	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN			9	1324	-			386			Necessary for interaction with HDAC3 and transcriptional repression.		Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	ENST00000371410.3	37	c.1158C>A	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519570	0.85495	.	.	ENSG00000101882	ENST00000371410	T	0.16457	2.34	5.74	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.35364	0.0929	L	0.48986	1.54	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.05750	-1.0866	10	0.66056	D	0.02	-24.778	13.2846	0.60235	0.078:0.0:0.922:0.0	.	386	Q8N5F7	NKAP_HUMAN	K	386	ENSP00000360464:N386K	ENSP00000360464:N386K	N	-	3	2	NKAP	118943301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.905000	0.87416	1.177000	0.42855	0.600000	0.82982	AAC		0.438	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		4	79	1	0	0.00024832	1	0.000307444	4	79				
AAED1	195827	broad.mit.edu	37	9	99417014	99417014	+	Silent	SNP	C	C	G			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr9:99417014C>G	ENST00000375234.3	-	2	233	c.234G>C	c.(232-234)ctG>ctC	p.L78L	AAED1_ENST00000464512.1_5'UTR	NM_153698.1	NP_714542.1	Q7RTV5	AAED1_HUMAN	AhpC/TSA antioxidant enzyme domain containing 1	78																	GGATTTTGGCCAGATCCTCTA	0.582																																						ENST00000375234.3																			0											c.(232-234)ctG>ctC		AhpC/TSA antioxidant enzyme domain containing 1							61.0	59.0	60.0					9																	99417014		2196	4288	6484	SO:0001819	synonymous_variant	195827						antioxidant activity|oxidoreductase activity	g.chr9:99417014C>G	BK000255	CCDS35073.1	9q22.32	2013-01-07	2012-03-06	2012-03-06	ENSG00000158122	ENSG00000158122			16881	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 21"""	C9orf21			Standard	XM_005251783		Approved		uc004awm.3	Q7RTV5	OTTHUMG00000020299	ENST00000375234.3:c.234G>C	9.37:g.99417014C>G						AAED1_ENST00000464512.1_5'UTR	p.L78L	NM_153698.1	NP_714542.1	Q7RTV5	CI021_HUMAN			2	233	-			78					B2RMW4|Q5JU02	Silent	SNP	ENST00000375234.3	37	c.234G>C	CCDS35073.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.726|6.726	0.502743|0.502743	0.12822|0.12822	.|.	.|.	ENSG00000158122|ENSG00000158122	ENST00000446045|ENST00000411939	.|.	.|.	.|.	4.79|4.79	3.9|3.9	0.45041|0.45041	.|.	.|.	.|.	.|.	.|.	T|T	0.60483|0.60483	0.2272|0.2272	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57820|0.57820	-0.7745|-0.7745	4|4	.|.	.|.	.|.	-12.5419|-12.5419	10.3997|10.3997	0.44222|0.44222	0.0:0.9072:0.0:0.0928|0.0:0.9072:0.0:0.0928	.|.	.|.	.|.	.|.	R|S	32|6	.|.	.|.	G|W	-|-	1|2	0|0	C9orf21|C9orf21	98456835|98456835	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.446000|0.446000	0.32137|0.32137	1.023000|1.023000	0.30065|0.30065	1.230000|1.230000	0.43646|0.43646	0.484000|0.484000	0.47621|0.47621	GGC|TGG		0.582	AAED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053273.1	NM_153698		2	2	0	0	0	1	0	2	2				
HRAS	3265	broad.mit.edu	37	11	534286	534286	+	Missense_Mutation	SNP	C	C	G	rs104894228		TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr11:534286C>G	ENST00000451590.1	-	2	224	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R	HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000311189.7_Missense_Mutation_p.G13R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000417302.1_Missense_Mutation_p.G13R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGCCCACACCGCCGGCGCCC	0.642		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		88	Substitution - Missense(87)|Insertion - In frame(1)	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)	skin(26)|thyroid(17)|urinary_tract(13)|upper_aerodigestive_tract(11)|soft_tissue(8)|lung(5)|salivary_gland(3)|prostate(3)|adrenal_gland(1)|bone(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901	GRCh37	CM060018	HRAS	M	rs104894228	c.(37-39)Ggt>Cgt		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						85.0	80.0	82.0					11																	534286		2202	4300	6502	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534286C>G	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.37G>C	11.37:g.534286C>G	ENSP00000407586:p.Gly13Arg	HNSCC(11;0.0054)				HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000451590.1_Missense_Mutation_p.G13R|HRAS_ENST00000311189.7_Missense_Mutation_p.G13R	p.G13R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	224	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	13		G -> C (in FCSS).|G -> D (in FCSS).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.37G>C	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589995	0.66105	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84257	0.5432	M	0.74647	2.275	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.73708	0.967;0.981	D	0.86952	0.2086	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	R	13	ENSP00000380722:G13R;ENSP00000380723:G13R;ENSP00000407586:G13R;ENSP00000388246:G13R;ENSP00000309845:G13R	ENSP00000309845:G13R	G	-	1	0	HRAS	524286	1.000000	0.71417	0.446000	0.26920	0.236000	0.25371	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT		0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		11	24	0	0	0	1	0	11	24				
MSN	4478	broad.mit.edu	37	X	64951750	64951750	+	Missense_Mutation	SNP	A	A	G			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chrX:64951750A>G	ENST00000360270.5	+	6	774	c.602A>G	c.(601-603)tAt>tGt	p.Y201C		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	201	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CTGGAGATGTATGGTGTGAAC	0.493			T	ALK	ALCL																																	ENST00000360270.5				Dom	yes		X	Xq11.2-q12	4478	T	moesin			L	ALK		ALCL	MSN/ALK(6)	0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						c.(601-603)tAt>tGt		moesin							145.0	124.0	131.0					X																	64951750		2203	4300	6503	SO:0001583	missense	4478				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	g.chrX:64951750A>G	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.602A>G	X.37:g.64951750A>G	ENSP00000353408:p.Tyr201Cys						p.Y201C	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN			6	774	+			201			FERM.			Missense_Mutation	SNP	ENST00000360270.5	37	c.602A>G	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.515952	0.85495	.	.	ENSG00000147065	ENST00000360270	D	0.85013	-1.93	5.92	5.92	0.95590	Band 4.1 domain (1);FERM central domain (1);FERM domain (1);Pleckstrin homology-type (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95755	0.8619	H	0.99336	4.52	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.97358	0.9968	10	0.87932	D	0	.	13.9916	0.64369	1.0:0.0:0.0:0.0	.	201	P26038	MOES_HUMAN	C	201	ENSP00000353408:Y201C	ENSP00000353408:Y201C	Y	+	2	0	MSN	64868475	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.237000	0.95368	1.990000	0.58119	0.486000	0.48141	TAT		0.493	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		17	80	0	0	0	1	0	17	80				
MSH6	2956	broad.mit.edu	37	2	48032102	48032102	+	Silent	SNP	G	G	T			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr2:48032102G>T	ENST00000234420.5	+	6	3644	c.3492G>T	c.(3490-3492)gtG>gtT	p.V1164V	MSH6_ENST00000538136.1_Silent_p.V862V|MSH6_ENST00000540021.1_Silent_p.V1034V|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1164					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTGCTGAAGTGTGCAGGCTCA	0.438			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(3490-3492)gtG>gtT	Mismatch excision repair (MMR)	mutS homolog 6							168.0	145.0	153.0					2																	48032102		2203	4300	6503	SO:0001819	synonymous_variant	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48032102G>T	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3492G>T	2.37:g.48032102G>T						MSH6_ENST00000538136.1_Silent_p.V862V|MSH6_ENST00000540021.1_Silent_p.V1034V|FBXO11_ENST00000405808.1_Intron	p.V1164V	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		6	3644	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	1164					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	ENST00000234420.5	37	c.3492G>T	CCDS1836.1																																																																																				0.438	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		3	49	1	0	1	1	1	3	49				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	23666							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			3	40	1	0	0.115264	1	0.130298	3	40				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	31	0	0	0	1	0	3	31				
ABCA8	10351	broad.mit.edu	37	17	66873753	66873753	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr17:66873753G>A	ENST00000269080.2	-	31	4123	c.3986C>T	c.(3985-3987)gCg>gTg	p.A1329V	ABCA8_ENST00000430352.2_Missense_Mutation_p.A1369V|ABCA8_ENST00000586539.1_Missense_Mutation_p.A1369V	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1329	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.A1329V(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGGCCACAGCGCGTTCTCCTG	0.597																																						ENST00000269080.2																			1	Substitution - Missense(1)	p.A1329V(1)	large_intestine(1)	breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(3985-3987)gCg>gTg		ATP-binding cassette, sub-family A (ABC1), member 8							140.0	119.0	126.0					17																	66873753		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66873753G>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3986C>T	17.37:g.66873753G>A	ENSP00000269080:p.Ala1329Val					ABCA8_ENST00000430352.2_Missense_Mutation_p.A1369V|ABCA8_ENST00000586539.1_Missense_Mutation_p.A1369V	p.A1329V	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			31	4123	-	Breast(10;4.56e-13)		1329			ABC transporter 2.		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.3986C>T	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	G	9.177	1.022563	0.19433	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.93763	-3.28;-3.28	4.34	-0.109	0.13584	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.455820	0.18056	N	0.153094	D	0.85004	0.5598	N	0.17723	0.515	0.25438	N	0.988124	B;B;B	0.14805	0.011;0.004;0.011	B;B;B	0.14023	0.01;0.004;0.006	T	0.73707	-0.3898	10	0.41790	T	0.15	.	8.385	0.32494	0.3401:0.0:0.6599:0.0	.	1369;1369;1329	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	V	1329;1369	ENSP00000269080:A1329V;ENSP00000402814:A1369V	ENSP00000269080:A1329V	A	-	2	0	ABCA8	64385348	0.064000	0.20934	0.007000	0.13788	0.521000	0.34408	1.858000	0.39408	-0.051000	0.13334	0.637000	0.83480	GCG		0.597	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		4	77	0	0	0	1	0	4	77				
FLG	2312	broad.mit.edu	37	1	152277659	152277659	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr1:152277659C>T	ENST00000368799.1	-	3	9738	c.9703G>A	c.(9703-9705)Gct>Act	p.A3235T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3235	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)			TTTCTGGAAGCAGACCCAGAC	0.592									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.(9703-9705)Gct>Act		filaggrin							176.0	187.0	183.0					1																	152277659		2203	4300	6503	SO:0001583	missense	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.chr1:152277659C>T	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.9703G>A	1.37:g.152277659C>T	ENSP00000357789:p.Ala3235Thr					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.A3235T	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9738	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3235			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9703G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810253	0.32053	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.02498	4.27	3.29	-3.18	0.05186	.	.	.	.	.	T	0.01489	0.0048	M	0.63428	1.95	0.09310	N	1	D	0.53885	0.963	P	0.50570	0.644	T	0.31530	-0.9940	9	0.20519	T	0.43	0.5134	4.1696	0.10324	0.0:0.3385:0.3336:0.3279	.	3235	P20930	FILA_HUMAN	T	3235;173	ENSP00000357789:A3235T	ENSP00000357786:A173T	A	-	1	0	FLG	150544283	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-2.622000	0.00877	-0.887000	0.03961	0.449000	0.29647	GCT		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		12	210	0	0	0	1	0	12	210				
APAF1	317	broad.mit.edu	37	12	99117515	99117515	+	Silent	SNP	A	A	G			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr12:99117515A>G	ENST00000551964.1	+	24	4039	c.3303A>G	c.(3301-3303)tcA>tcG	p.S1101S	APAF1_ENST00000552268.1_Intron|APAF1_ENST00000549007.1_Silent_p.S1058S|APAF1_ENST00000547045.1_Silent_p.S1058S|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000550527.1_Silent_p.S1090S|APAF1_ENST00000339433.3_Silent_p.S1058S|APAF1_ENST00000357310.1_Silent_p.S1058S|APAF1_ENST00000359972.2_Silent_p.S1047S	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	1101					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CCAAGTTTTCATCTACCTCTG	0.353																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(3172-3174)tcA>tcG		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						107.0	112.0	110.0					12																	99117515		2203	4300	6503	SO:0001819	synonymous_variant	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99117515A>G	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.3303A>G	12.37:g.99117515A>G						APAF1_ENST00000333991.1_Intron|APAF1_ENST00000551964.1_Silent_p.S1101S|APAF1_ENST00000339433.3_Silent_p.S1058S|APAF1_ENST00000549007.1_Silent_p.S1058S|APAF1_ENST00000547045.1_Silent_p.S1058S|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Silent_p.S1047S|APAF1_ENST00000550527.1_Silent_p.S1090S	p.S1058S	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			23	3751	+			1101					B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	ENST00000551964.1	37	c.3174A>G	CCDS9069.1																																																																																				0.353	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		7	110	0	0	0	1	0	7	110				
TDRD7	23424	broad.mit.edu	37	9	100258051	100258051	+	Silent	SNP	C	C	T	rs200913253		TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr9:100258051C>T	ENST00000355295.4	+	17	3478	c.3183C>T	c.(3181-3183)aaC>aaT	p.N1061N	TDRD7_ENST00000540902.1_Silent_p.N381N|TDRD7_ENST00000422139.2_Silent_p.N987N	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	1061	Interacts with CABLES1. {ECO:0000250}.|Interacts with CDK17. {ECO:0000250}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AAAATGCTAACCCTTGGGACC	0.463																																						ENST00000355295.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(3181-3183)aaC>aaT		tudor domain containing 7							171.0	164.0	166.0					9																	100258051		2203	4300	6503	SO:0001819	synonymous_variant	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100258051C>T	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.3183C>T	9.37:g.100258051C>T						TDRD7_ENST00000422139.2_Silent_p.N987N|TDRD7_ENST00000540902.1_Silent_p.N381N	p.N1061N	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN			17	3478	+		Acute lymphoblastic leukemia(62;0.158)	1061			Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Silent	SNP	ENST00000355295.4	37	c.3183C>T	CCDS6725.1																																																																																				0.463	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		7	65	0	0	0	1	0	7	65				
TOP1MT	116447	broad.mit.edu	37	8	144407615	144407615	+	Missense_Mutation	SNP	A	A	G	rs372542090		TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr8:144407615A>G	ENST00000329245.4	-	5	606	c.572T>C	c.(571-573)aTt>aCt	p.I191T	TOP1MT_ENST00000521193.1_Missense_Mutation_p.I93T|TOP1MT_ENST00000519148.1_Missense_Mutation_p.I93T|TOP1MT_ENST00000523676.1_Missense_Mutation_p.I93T	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	191					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	AGGCGGCTCAATCTTGAAGTT	0.473																																						ENST00000523676.1																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23						c.(277-279)aTt>aCt		topoisomerase (DNA) I, mitochondrial	Irinotecan(DB00762)|Topotecan(DB01030)	A	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	110.0	108.0	109.0		572	1.6	0.3	8		109	0,8600		0,0,4300	no	missense	TOP1MT	NM_052963.1	89	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	191/602	144407615	1,13005	2203	4300	6503	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144407615A>G	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.572T>C	8.37:g.144407615A>G	ENSP00000328835:p.Ile191Thr					TOP1MT_ENST00000519148.1_Missense_Mutation_p.I93T|TOP1MT_ENST00000521193.1_Missense_Mutation_p.I93T|TOP1MT_ENST00000329245.4_Missense_Mutation_p.I191T	p.I93T			Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		6	683	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		191					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.278T>C	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	A	9.478	1.097430	0.20552	2.27E-4	0.0	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676;ENST00000522041;ENST00000519591	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	3.48	1.6	0.23607	DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type (1);DNA topoisomerase I, DNA binding, eukaryotic-type (2);	0.139465	0.32106	N	0.006564	T	0.28234	0.0697	N	0.11870	0.19	0.35480	D	0.79806	B	0.14805	0.011	B	0.31191	0.125	T	0.11991	-1.0565	10	0.41790	T	0.15	-5.1276	6.3269	0.21248	0.3278:0.0:0.6722:0.0	.	191	Q969P6	TOP1M_HUMAN	T	191;93;93;93;93;93	ENSP00000328835:I191T;ENSP00000428369:I93T;ENSP00000429169:I93T;ENSP00000429181:I93T;ENSP00000427998:I93T;ENSP00000429177:I93T	ENSP00000328835:I191T	I	-	2	0	TOP1MT	144478990	0.966000	0.33281	0.286000	0.24833	0.645000	0.38454	1.901000	0.39838	0.023000	0.15187	-0.180000	0.13094	ATT		0.473	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		3	50	0	0	0	1	0	3	50				
PKHD1	5314	broad.mit.edu	37	6	51944754	51944754	+	Missense_Mutation	SNP	C	C	T	rs149841071	byFrequency	TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr6:51944754C>T	ENST00000371117.3	-	5	609	c.334G>A	c.(334-336)Ggg>Agg	p.G112R	PKHD1_ENST00000340994.4_Missense_Mutation_p.G112R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	112					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGCTGTCCCCCGAAGTATGCT	0.463																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	GRCh37	CM051117	PKHD1	M	rs149841071	c.(334-336)Ggg>Agg		polycystic kidney and hepatic disease 1 (autosomal recessive)		C	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	201.0	174.0	184.0		334,334	2.6	0.2	6	dbSNP_134	184	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	PKHD1	NM_138694.3,NM_170724.2	125,125	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	benign,benign	112/4075,112/3397	51944754	6,13000	2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51944754C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.334G>A	6.37:g.51944754C>T	ENSP00000360158:p.Gly112Arg					PKHD1_ENST00000340994.4_Missense_Mutation_p.G112R	p.G112R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			5	609	-	Lung NSC(77;0.0605)		112					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.334G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	8.509	0.866085	0.17250	2.27E-4	5.81E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87412	-2.04;-2.25	5.31	2.56	0.30785	.	0.801692	0.11345	N	0.573607	T	0.69142	0.3078	M	0.66939	2.045	0.09310	N	0.999992	P;P	0.52692	0.83;0.955	B;B	0.37198	0.243;0.243	T	0.59440	-0.7454	10	0.36615	T	0.2	.	4.6693	0.12682	0.0:0.5699:0.1612:0.2689	.	112;112	P08F94-2;P08F94	.;PKHD1_HUMAN	R	112	ENSP00000360158:G112R;ENSP00000341097:G112R	ENSP00000341097:G112R	G	-	1	0	PKHD1	52052713	0.027000	0.19231	0.168000	0.22838	0.061000	0.15899	0.817000	0.27281	0.322000	0.23283	-0.136000	0.14681	GGG		0.463	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		4	117	0	0	0	1	0	4	117				
MIR412	574433	broad.mit.edu	37	14	101533126	101533126	+	RNA	SNP	C	C	T	rs368552818		TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr14:101533126C>T	ENST00000362142.2	+	0	91				MIR410_ENST00000362222.2_RNA|MIR541_ENST00000401360.1_RNA|MIR409_ENST00000362237.1_RNA|MIR369_ENST00000362155.3_RNA|MIR656_ENST00000385224.1_RNA	NR_030155.1				microRNA 412																		CAACCTCTTTCCGATATCGAA	0.507																																						ENST00000385224.1																			0															C		0,3136		0,0,1568	153.0	147.0	149.0			3.6	1.0	14		149	1,7163		0,1,3581	no	intergenic				0,1,5149	TT,TC,CC		0.014,0.0,0.0097			101533126	1,10299	1568	3582	5150			724026							g.chr14:101533126C>T			14q32.31	2011-09-12		2008-12-18	ENSG00000199012	ENSG00000199012		"""ncRNAs / Micro RNAs"""	32064	non-coding RNA	RNA, micro				MIRN412			Standard	NR_030155		Approved	hsa-mir-412	uc021sds.1				14.37:g.101533126C>T								NR_030392.1						0	66	+									RNA	SNP	ENST00000362142.2	37																																																																																						0.507	MIR412-201	KNOWN	basic	miRNA	miRNA		NR_030155		4	79	0	0	0	1	0	4	79				
TTN	7273	broad.mit.edu	37	2	179611367	179611367	+	Intron	SNP	T	T	A			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr2:179611367T>A	ENST00000591111.1	-	46	10585				TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.M5254L|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATGACACATGTACTCTCCC	0.418																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(15760-15762)Atg>Ttg		titin							152.0	142.0	146.0					2																	179611367		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611367T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4719A>T	2.37:g.179611367T>A						TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA	p.M5254L	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15982	-			8773			Ig-like 33.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.15760A>T		.	.	.	.	.	.	.	.	.	.	T	12.40	1.925604	0.34002	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.39406	1.08	5.95	4.78	0.61160	.	.	.	.	.	T	0.28101	0.0693	N	0.19112	0.55	0.80722	D	1	B	0.24092	0.097	B	0.28784	0.094	T	0.06881	-1.0802	9	0.37606	T	0.19	.	8.3273	0.32165	0.1169:0.0:0.2686:0.6145	.	5254	Q8WZ42-6	.	L	5254;535	ENSP00000354117:M5254L	ENSP00000304714:M535L	M	-	1	0	TTN	179319612	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.875000	0.39578	1.041000	0.40125	0.533000	0.62120	ATG		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	55	0	0	0	1	0	4	55				
COL12A1	1303	broad.mit.edu	37	6	75841698	75841698	+	Silent	SNP	G	G	A	rs376241836		TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr6:75841698G>A	ENST00000322507.8	-	35	6204	c.5895C>T	c.(5893-5895)cgC>cgT	p.R1965R	COL12A1_ENST00000416123.2_Silent_p.R1965R|COL12A1_ENST00000345356.6_Silent_p.R801R|COL12A1_ENST00000483888.2_Silent_p.R1965R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1965	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AATACACAACGCGATATTGCA	0.463																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(5893-5895)cgC>cgT		collagen, type XII, alpha 1		G	,	0,4048		0,0,2024	134.0	131.0	132.0		5895,2403	-8.1	0.0	6		132	1,8367		0,1,4183	no	coding-synonymous,coding-synonymous	COL12A1	NM_004370.5,NM_080645.2	,	0,1,6207	AA,AG,GG		0.012,0.0,0.0081	,	1965/3064,801/1900	75841698	1,12415	2024	4184	6208	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75841698G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5895C>T	6.37:g.75841698G>A						COL12A1_ENST00000345356.6_Silent_p.R801R|COL12A1_ENST00000483888.2_Silent_p.R1965R|COL12A1_ENST00000416123.2_Silent_p.R1965R	p.R1965R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			35	6204	-			1965			Fibronectin type-III 15.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.5895C>T	CCDS43482.1																																																																																				0.463	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		23	25	0	0	0	1	0	23	25				
PATL1	219988	broad.mit.edu	37	11	59418227	59418227	+	Splice_Site	DEL	T	T	-			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr11:59418227delT	ENST00000300146.9	-	13	1668	c.1584delA	c.(1582-1584)aaa>aa	p.K528fs		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	528	Involved in nuclear spleckles localization.|Region C.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CTAAACTTACTTTCTCAATTA	0.313																																						ENST00000300146.9																			0				central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						c.e13+1		protein associated with topoisomerase II homolog 1 (yeast)							100.0	88.0	91.0					11																	59418227		1793	4043	5836	SO:0001630	splice_region_variant	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59418227delT	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.1584+1A>-	11.37:g.59418227delT							p.K528_splice	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN			13	1668	-			528			Region C.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Splice_Site	DEL	ENST00000300146.9	37	c.1584_splice	CCDS44613.1																																																																																				0.313	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716	Frame_Shift_Del	2	4						2	4	---	---	---	---
DENND4A	10260	broad.mit.edu	37	15	66021931	66021931	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr15:66021931delT	ENST00000431932.2	-	10	1460	c.1252delA	c.(1252-1254)attfs	p.I418fs	DENND4A_ENST00000443035.3_Frame_Shift_Del_p.I418fs	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	418	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGGATAAGAATTTTATGTTCT	0.403																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1252-1254)ttfs		DENN/MADD domain containing 4A							62.0	58.0	59.0					15																	66021931		1880	4102	5982	SO:0001589	frameshift_variant	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66021931delT	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1252delA	15.37:g.66021931delT	ENSP00000396830:p.Ile418fs					DENND4A_ENST00000431932.2_Frame_Shift_Del_p.I418fs	p.I418fs	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			10	1467	-			418			DENN.		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Frame_Shift_Del	DEL	ENST00000431932.2	37	c.1252delA	CCDS45285.1																																																																																				0.403	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		2	4						2	4	---	---	---	---
SNORD3B-1	26851	broad.mit.edu	37	17	18965296	18965297	+	lincRNA	INS	-	-	T	rs369169614	byFrequency	TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr17:18965296_18965297insT	ENST00000363359.1	+	0	72_73				SNORD3B-2_ENST00000364880.1_lincRNA					small nucleolar RNA, C/D box 3B-1																		tagagcaccgaaaaccccgagg	0.495													-|-|T|insertion	20	0.00399361	0.0	0.0014	5008	,	,		14124	0.003		0.0	False		,,,				2504	0.0164					ENST00000363359.1																			0																																																			26851							g.chr17:18965296_18965297insT	AF020534, AF020533, AF020532		17p11.2	2013-09-05	2006-11-28	2006-11-28	ENSG00000200229	ENSG00000265185			10168	non-coding RNA	RNA, small nucleolar			"""RNA, U3A1 small nucleolar, RNA, U3A1 small nucleolar"""	RNU3A1		9365252	Standard	NR_003271		Approved	U3a, U3b1, U3b2					17.37:g.18965296_18965297insT														0	72_73	+									RNA	INS	ENST00000363359.1	37																																																																																						0.495	SNORD3B-1-201	KNOWN	basic	snoRNA	lincRNA		NR_003271		2	4						2	4	---	---	---	---
BSG	682	broad.mit.edu	37	19	577826	577826	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SR-A6MQ-01A-11D-A35I-08	TCGA-SR-A6MQ-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1437acf1-5eac-48d6-9bd6-aed2266c82e3	e593e74f-35a2-4df8-9717-7e4974edf3e0	g.chr19:577826delG	ENST00000333511.3	+	2	190	c.120delG	c.(118-120)gtgfs	p.V40fs	BSG_ENST00000346916.4_Intron|BSG_ENST00000353555.4_Intron|BSG_ENST00000545507.2_Intron|BSG_ENST00000574970.1_3'UTR	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	40					blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGCAGTGTGGAGCTGCACT	0.692																																						ENST00000333511.3																			0				central_nervous_system(1)|endometrium(3)|lung(1)	5						c.(118-120)gtfs		basigin							14.0	13.0	13.0					19																	577826		2162	4229	6391	SO:0001589	frameshift_variant	682				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding	g.chr19:577826delG	L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.120delG	19.37:g.577826delG	ENSP00000333769:p.Val40fs					BSG_ENST00000574970.1_3'UTR|BSG_ENST00000353555.4_Intron|BSG_ENST00000545507.2_Intron|BSG_ENST00000346916.4_Intron	p.V40fs	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	190	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	40					A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Frame_Shift_Del	DEL	ENST00000333511.3	37	c.120delG	CCDS12033.1																																																																																				0.692	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	NM_001728		2	4						2	4	---	---	---	---
