#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
CACNA1G	8913	broad.mit.edu	37	17	48696019	48696019	+	Missense_Mutation	SNP	A	A	G			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr17:48696019A>G	ENST00000359106.5	+	33	5431	c.5431A>G	c.(5431-5433)Acc>Gcc	p.T1811A	CACNA1G_ENST00000514181.1_Missense_Mutation_p.T1786A|CACNA1G_ENST00000507510.2_Missense_Mutation_p.T1811A|CACNA1G_ENST00000510366.1_Missense_Mutation_p.T1759A|CACNA1G_ENST00000352832.5_Missense_Mutation_p.T1777A|CACNA1G_ENST00000514079.1_Missense_Mutation_p.T1818A|CACNA1G_ENST00000442258.2_Missense_Mutation_p.T1770A|CACNA1G_ENST00000502264.1_Missense_Mutation_p.T1788A|CACNA1G_ENST00000513689.2_Missense_Mutation_p.T1766A|CACNA1G_ENST00000507609.1_Missense_Mutation_p.T1804A|CACNA1G_ENST00000515165.1_Missense_Mutation_p.T1811A|CACNA1G_ENST00000507336.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000503485.1_Missense_Mutation_p.T1777A|CACNA1G_ENST00000429973.2_Missense_Mutation_p.T1793A|CACNA1G_ENST00000510115.1_Missense_Mutation_p.T1777A|CACNA1G_ENST00000515765.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000360761.4_Missense_Mutation_p.T1788A|CACNA1G_ENST00000515411.1_Missense_Mutation_p.T1793A|CACNA1G_ENST00000514717.1_Missense_Mutation_p.T1754A|CACNA1G_ENST00000505165.1_Missense_Mutation_p.T1811A|CACNA1G_ENST00000507896.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000512389.1_Missense_Mutation_p.T1800A|CACNA1G_ENST00000358244.5_Missense_Mutation_p.T1777A|CACNA1G_ENST00000354983.4_Missense_Mutation_p.T1777A|CACNA1G_ENST00000513964.1_Missense_Mutation_p.T1766A	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1811					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCCCAGGACACCCTCCGGGA	0.562																																						uc002irk.1																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(5431-5433)Acc>Gcc		Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						39.0	38.0	38.0					17																	48696019		2074	4194	6268	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48696019A>G	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5431A>G	17.37:g.48696019A>G	ENSP00000352011:p.Thr1811Ala		Somatic				CACNA1G_uc002irj.1_Missense_Mutation_p.T1777A|CACNA1G_uc002irl.1_Missense_Mutation_p.T1788A|CACNA1G_uc002irm.1_Missense_Mutation_p.T1777A|CACNA1G_uc002irn.1_Missense_Mutation_p.T1770A|CACNA1G_uc002iro.1_Missense_Mutation_p.T1777A|CACNA1G_uc002irp.1_Missense_Mutation_p.T1811A|CACNA1G_uc002irq.1_Missense_Mutation_p.T1788A|CACNA1G_uc002irr.1_Missense_Mutation_p.T1811A|CACNA1G_uc002irs.1_Missense_Mutation_p.T1800A|CACNA1G_uc002irt.1_Missense_Mutation_p.T1793A|CACNA1G_uc002iru.1_Missense_Mutation_p.T1777A|CACNA1G_uc002irv.1_Missense_Mutation_p.T1800A|CACNA1G_uc002irw.1_Missense_Mutation_p.T1788A|CACNA1G_uc002irx.1_Missense_Mutation_p.T1724A|CACNA1G_uc002iry.1_Missense_Mutation_p.T1713A|CACNA1G_uc002isg.1_Missense_Mutation_p.T1672A|CACNA1G_uc002ish.1_Missense_Mutation_p.T1679A|CACNA1G_uc002isi.1_Missense_Mutation_p.T1667A|CACNA1G_uc002irz.1_Missense_Mutation_p.T1717A|CACNA1G_uc002isa.1_Missense_Mutation_p.T1690A|CACNA1G_uc002isd.1_Missense_Mutation_p.T1699A|CACNA1G_uc002isb.1_Missense_Mutation_p.T1731A|CACNA1G_uc002isc.1_Missense_Mutation_p.T1713A|CACNA1G_uc002ise.1_Missense_Mutation_p.T1679A|CACNA1G_uc002isf.1_Missense_Mutation_p.T1706A	p.T1811A	NM_018896	NP_061496	WXS	Illumina GAIIx	Phase_I	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		32	5803	+	Breast(11;6.7e-17)		1811					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.5431A>G	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	a	17.97	3.518874	0.64634	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98192	-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78;-4.78	4.88	3.77	0.43336	Ion transport (1);	0.288717	0.37761	N	0.001956	D	0.97312	0.9121	N	0.20401	0.57	0.51767	D	0.999939	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.256;1.0;0.996;0.99;0.999;0.998;0.995;0.999;0.995;1.0;0.999;0.984;1.0;0.999;0.998;1.0;1.0;0.999;0.999;1.0;0.992;0.981;0.999;0.976;0.995	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P	0.97110	0.437;1.0;0.996;0.996;0.999;0.996;0.994;0.999;0.994;0.999;0.998;0.943;0.998;0.998;0.996;0.996;0.992;0.978;0.999;0.999;0.987;0.939;0.998;0.95;0.894	D	0.96751	0.9554	10	0.62326	D	0.03	.	10.7382	0.46137	0.8572:0.0:0.0:0.1428	.	1754;1766;1759;1793;1766;1786;1818;1777;1804;1800;1811;1788;1800;1800;1793;1800;1811;1788;1811;1777;1770;1777;1788;1811;1777	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	A	1788;1777;1777;1770;1788;1800;1766;1754;1759;1777;1811;1800;1766;1804;1777;1811;1786;1800;1818;1777;1811;1793;1793;1811;1800	ENSP00000353990:T1788A;ENSP00000339302:T1777A;ENSP00000347078:T1777A;ENSP00000409759:T1770A;ENSP00000425522:T1788A;ENSP00000426261:T1800A;ENSP00000425451:T1766A;ENSP00000422407:T1754A;ENSP00000426814:T1759A;ENSP00000427238:T1777A;ENSP00000423112:T1811A;ENSP00000420918:T1800A;ENSP00000426172:T1766A;ENSP00000423045:T1804A;ENSP00000427173:T1777A;ENSP00000426098:T1811A;ENSP00000425698:T1786A;ENSP00000426232:T1800A;ENSP00000423317:T1818A;ENSP00000350979:T1777A;ENSP00000352011:T1811A;ENSP00000414388:T1793A;ENSP00000423155:T1793A;ENSP00000422268:T1811A;ENSP00000421518:T1800A	ENSP00000339302:T1777A	T	+	1	0	CACNA1G	46051018	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.372000	0.79612	0.670000	0.31165	0.441000	0.28932	ACC		0.562	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		4	18	0	0	0	1	0	4	18				
CDH7	1005	broad.mit.edu	37	18	63491897	63491897	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr18:63491897G>A	ENST00000397968.2	+	6	1237	c.811G>A	c.(811-813)Gtc>Atc	p.V271I	CDH7_ENST00000323011.3_Missense_Mutation_p.V271I|CDH7_ENST00000536984.2_Missense_Mutation_p.V271I	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	271	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TCAATATAACGTCCCAGAGTC	0.373																																						uc002ljz.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(811-813)Gtc>Atc		Homo sapiens cadherin 7, type 2 (CDH7), transcript variant a, mRNA.							109.0	102.0	104.0					18																	63491897		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63491897G>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.811G>A	18.37:g.63491897G>A	ENSP00000381058:p.Val271Ile		Somatic				CDH7_uc002lka.3_Missense_Mutation_p.V271I|CDH7_uc002lkb.3_Missense_Mutation_p.V271I	p.V271I	NM_033646	NP_387450	WXS	Illumina GAIIx	Phase_I	Q9ULB5	CADH7_HUMAN			5	1136	+		Esophageal squamous(42;0.129)	271			Cadherin 3.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.811G>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810679	0.50421	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.53857	0.6;0.6;0.6	4.65	4.65	0.58169	Cadherin (4);Cadherin-like (1);	0.148280	0.42548	D	0.000698	T	0.48409	0.1498	L	0.60012	1.86	0.80722	D	1	B;P	0.36199	0.111;0.543	B;B	0.29524	0.023;0.103	T	0.52909	-0.8512	10	0.38643	T	0.18	.	17.9028	0.88910	0.0:0.0:1.0:0.0	.	271;271	F5H5X9;Q9ULB5	.;CADH7_HUMAN	I	271	ENSP00000319166:V271I;ENSP00000443030:V271I;ENSP00000381058:V271I	ENSP00000319166:V271I	V	+	1	0	CDH7	61642877	1.000000	0.71417	0.947000	0.38551	0.891000	0.51852	9.256000	0.95535	2.291000	0.77112	0.637000	0.83480	GTC		0.373	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		8	52	0	0	0	1	0	8	52				
SAMD7	344658	broad.mit.edu	37	3	169644878	169644878	+	Silent	SNP	C	C	T			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr3:169644878C>T	ENST00000428432.2	+	6	1217	c.828C>T	c.(826-828)gaC>gaT	p.D276D	SAMD7_ENST00000335556.3_Silent_p.D276D	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	276										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGGCCTGGGACGATGGGAAAG	0.562																																						uc003fgd.3																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(826-828)gaC>gaT		Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.							61.0	60.0	61.0					3																	169644878		2203	4300	6503	SO:0001819	synonymous_variant	344658							g.chr3:169644878C>T	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.828C>T	3.37:g.169644878C>T			Somatic				SAMD7_uc003fge.3_Silent_p.D276D|SAMD7_uc011bpo.2_Silent_p.D177D	p.D276D	NM_182610	NP_872416	WXS	Illumina GAIIx	Phase_I	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		5	1095	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		276						Silent	SNP	ENST00000428432.2	37	c.828C>T	CCDS3209.1																																																																																				0.562	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		33	42	0	0	0	1	0	33	42				
KRT85	3891	broad.mit.edu	37	12	52758885	52758885	+	Missense_Mutation	SNP	A	A	G			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr12:52758885A>G	ENST00000257901.3	-	2	565	c.490T>C	c.(490-492)Tgc>Cgc	p.C164R	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	164	Linker 1.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGCTCTCGCAGCAGCGCTGG	0.612																																						uc001sag.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(490-492)Tgc>Cgc		Homo sapiens keratin 85 (KRT85), mRNA.							55.0	56.0	56.0					12																	52758885		2203	4300	6503	SO:0001583	missense	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52758885A>G	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.490T>C	12.37:g.52758885A>G	ENSP00000257901:p.Cys164Arg		Somatic					p.C164R	NM_002283	NP_002274	WXS	Illumina GAIIx	Phase_I	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	610	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		164			Linker 1.|Rod.		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	c.490T>C	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.623967	0.46840	.	.	ENSG00000135443	ENST00000257901	T	0.74737	-0.87	4.51	4.51	0.55191	Filament (1);	0.000000	0.64402	D	0.000004	T	0.75693	0.3884	L	0.41824	1.3	0.80722	D	1	D	0.54964	0.969	D	0.64321	0.924	T	0.76937	-0.2774	10	0.87932	D	0	.	5.127	0.14890	0.625:0.1502:0.0:0.2248	.	164	P78386	KRT85_HUMAN	R	164	ENSP00000257901:C164R	ENSP00000257901:C164R	C	-	1	0	KRT85	51045152	0.000000	0.05858	0.988000	0.46212	0.553000	0.35397	0.203000	0.17315	1.892000	0.54788	0.402000	0.26972	TGC		0.612	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		11	71	0	0	0	1	0	11	71				
FSTL4	23105	broad.mit.edu	37	5	132535059	132535059	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr5:132535059C>T	ENST00000265342.7	-	16	2506	c.2257G>A	c.(2257-2259)Gcg>Acg	p.A753T	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	753						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.A753T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCAGAGCCGCGTAGATGTTG	0.572																																						uc003kyn.1																			1	Substitution - Missense(1)	p.A753T(2)	autonomic_ganglia(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2257-2259)Gcg>Acg		Homo sapiens follistatin-like 4 (FSTL4), mRNA.							70.0	69.0	69.0					5																	132535059		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132535059C>T	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2257G>A	5.37:g.132535059C>T	ENSP00000265342:p.Ala753Thr		Somatic				FSTL4_uc003kym.1_Missense_Mutation_p.A402T	p.A753T	NM_015082	NP_055897	WXS	Illumina GAIIx	Phase_I	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		15	2475	-		all_cancers(142;0.244)	753					Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.2257G>A	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277045	0.59758	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.28069	1.63	4.76	4.76	0.60689	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58949	0.2158	M	0.79926	2.475	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.95;0.999	T	0.65780	-0.6085	10	0.72032	D	0.01	-23.8056	16.769	0.85532	0.0:1.0:0.0:0.0	.	753;402	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	T	753;584	ENSP00000265342:A753T	ENSP00000265342:A753T	A	-	1	0	FSTL4	132562958	1.000000	0.71417	0.126000	0.21872	0.002000	0.02628	4.540000	0.60664	2.200000	0.70718	0.585000	0.79938	GCG		0.572	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		29	37	0	0	0	1	0	29	37				
EIF3L	51386	broad.mit.edu	37	22	38251572	38251572	+	Splice_Site	SNP	C	C	T	rs143207366		TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr22:38251572C>T	ENST00000412331.2	+	4	876	c.294C>T	c.(292-294)agC>agT	p.S98S	EIF3L_ENST00000381683.6_Splice_Site_p.S98S|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000406934.1_Intron	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGATTTTTAGCTGGACCAAGC	0.428																																						uc003auf.3																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.e4-1		Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA.		C	,	0,4406		0,0,2203	63.0	62.0	62.0		294,294	3.0	1.0	22	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice	EIF3L	NM_001242923.1,NM_016091.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	98/517,98/565	38251572	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38251572C>T	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.294-1C>T	22.37:g.38251572C>T			Somatic				EIF3L_uc011ann.2_Splice_Site_p.S98_splice|EIF3L_uc003aug.3_Intron	p.S98_splice	NM_016091	NP_057175	WXS	Illumina GAIIx	Phase_I	Q9Y262	EIF3L_HUMAN			4	372	+			98						Splice_Site	SNP	ENST00000412331.2	37	c.294_splice	CCDS13960.1																																																																																				0.428	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091	Silent	3	30	0	0	0	1	0	3	30				
GPR75	10936	broad.mit.edu	37	2	54081132	54081132	+	Silent	SNP	C	C	T			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr2:54081132C>T	ENST00000394705.2	-	2	1032	c.762G>A	c.(760-762)ggG>ggA	p.G254G	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	254					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCACAGGGACCCCCATGAAAG	0.537																																						uc002rxo.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(760-762)ggG>ggA		Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.							88.0	89.0	88.0					2																	54081132		2203	4300	6503	SO:0001819	synonymous_variant	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54081132C>T	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.762G>A	2.37:g.54081132C>T			Somatic				GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc021vhn.1_Silent_p.G254G	p.G254G	NM_006794	NP_006785	WXS	Illumina GAIIx	Phase_I	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		1	1077	-			254					B2RC02|Q6NWR2	Silent	SNP	ENST00000394705.2	37	c.762G>A	CCDS1849.1																																																																																				0.537	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			18	38	0	0	0	1	0	18	38				
C9orf47	286223	broad.mit.edu	37	9	91606052	91606052	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr9:91606052C>G	ENST00000334490.5	+	1	210	c.142C>G	c.(142-144)Ctc>Gtc	p.L48V	S1PR3_ENST00000358157.2_5'Flank|C9orf47_ENST00000375851.2_Missense_Mutation_p.L48V|C9orf47_ENST00000375850.3_Missense_Mutation_p.L48V			Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	48						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						CCCGCTGGGTCTCTGGGCGCC	0.672																																						uc004aqd.3																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						c.(142-144)Ctc>Gtc		Homo sapiens chromosome 9 open reading frame 47 (C9orf47), transcript variant 1, mRNA.							14.0	17.0	16.0					9																	91606052		2202	4299	6501	SO:0001583	missense	286223					extracellular region		g.chr9:91606052C>G	AK094842	CCDS35062.1, CCDS47989.1	9q22.1	2008-02-05	2004-11-04		ENSG00000186354	ENSG00000186354			23669	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 108"""	C9orf108			Standard	NM_001001938		Approved	FLJ37523, bA791O21.3	uc004aqc.2	Q6ZRZ4	OTTHUMG00000020172	ENST00000334490.5:c.142C>G	9.37:g.91606052C>G	ENSP00000335616:p.Leu48Val		Somatic				S1PR3_uc004aqe.3_5'Flank|C9orf47_uc004aqc.2_Missense_Mutation_p.L48V	p.L48V	NM_001001938	NP_001001938	WXS	Illumina GAIIx	Phase_I	Q6ZRZ4	CI047_HUMAN			0	275	+			48					B7ZMC7|Q5SQD7|Q7Z568|Q8N1V4	Missense_Mutation	SNP	ENST00000334490.5	37	c.142C>G	CCDS35062.1	.	.	.	.	.	.	.	.	.	.	C	9.805	1.181505	0.21787	.	.	ENSG00000186354	ENST00000375851;ENST00000375850;ENST00000334490	.	.	.	2.48	-0.716	0.11212	.	.	.	.	.	T	0.16214	0.0390	N	0.08118	0	0.09310	N	1	B;B	0.25351	0.124;0.124	B;B	0.24155	0.051;0.051	T	0.21280	-1.0250	8	0.87932	D	0	.	3.3368	0.07103	0.0:0.5068:0.2191:0.2742	.	48;48	Q6ZRZ4;Q6ZRZ4-2	CI047_HUMAN;.	V	48	.	ENSP00000335616:L48V	L	+	1	0	C9orf47	90795872	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.079000	0.11357	-0.153000	0.11137	0.486000	0.48141	CTC		0.672	C9orf47-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355972.1	NM_182599		5	10	0	0	0	1	0	5	10				
KCNIP1	30820	broad.mit.edu	37	5	170148874	170148874	+	Missense_Mutation	SNP	C	C	A			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr5:170148874C>A	ENST00000411494.1	+	5	327	c.327C>A	c.(325-327)ttC>ttA	p.F109L	KCNIP1_ENST00000434108.1_Missense_Mutation_p.F123L|KCNIP1_ENST00000520740.1_Missense_Mutation_p.F70L|KCNIP1_ENST00000390656.4_Missense_Mutation_p.F98L|KCNIP1_ENST00000328939.4_Missense_Mutation_p.F98L|KCNIP1_ENST00000377360.4_Missense_Mutation_p.F107L			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	109	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)	p.F109F(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAATGCCTTCGACACCACTC	0.547																																						uc010jjq.3																			1	Substitution - coding silent(1)	p.F109F(1)	large_intestine(1)	autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18						c.(367-369)ttC>ttA		Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 2, mRNA.							243.0	214.0	224.0					5																	170148874		2203	4300	6503	SO:0001583	missense	30820				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr5:170148874C>A	AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"""EF-hand domain containing"""	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.327C>A	5.37:g.170148874C>A	ENSP00000395323:p.Phe109Leu		Somatic				KCNIP1_uc003map.3_Missense_Mutation_p.F107L|KCNIP1_uc003mas.3_Missense_Mutation_p.F109L|KCNIP1_uc003mat.3_Missense_Mutation_p.F98L|KCNIP1_uc010jjp.3_Missense_Mutation_p.F70L	p.F123L	NM_014592	NP_055407	WXS	Illumina GAIIx	Phase_I	Q9NZI2	KCIP1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	898	+	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	109			EF-hand 2.		B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Missense_Mutation	SNP	ENST00000411494.1	37	c.369C>A	CCDS34286.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887209	0.72410	.	.	ENSG00000182132	ENST00000377360;ENST00000328939;ENST00000390656;ENST00000520740;ENST00000434108;ENST00000411494	T;T;T;T;T;T	0.80393	0.08;0.08;0.08;0.08;-1.37;0.08	5.5	0.0795	0.14416	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	M	0.63208	1.945	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.998;0.998	D;D;D;D	0.81914	0.993;0.995;0.913;0.913	T	0.80977	-0.1141	9	.	.	.	.	9.0138	0.36157	0.0:0.4642:0.0:0.5358	.	123;98;109;107	Q3YAD0;Q3YAD2;Q9NZI2;Q3YAD3	.;.;KCIP1_HUMAN;.	L	107;98;98;70;123;109	ENSP00000366577:F107L;ENSP00000329686:F98L;ENSP00000375071:F98L;ENSP00000431102:F70L;ENSP00000414886:F123L;ENSP00000395323:F109L	.	F	+	3	2	KCNIP1	170081452	0.990000	0.36364	0.998000	0.56505	0.993000	0.82548	0.221000	0.17680	0.041000	0.15688	-0.140000	0.14226	TTC		0.547	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1			9	125	0	0	0	1	0	9	125				
OR13C8	138802	broad.mit.edu	37	9	107331756	107331756	+	Missense_Mutation	SNP	T	T	A			TCGA-DE-A4M9-01A-11D-A257-08	TCGA-DE-A4M9-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0eb322a-040f-449c-ade7-c49fe4dc17d5	5b8e33ea-371d-4c4c-ad22-a42de593539b	g.chr9:107331756T>A	ENST00000335040.1	+	1	308	c.308T>A	c.(307-309)aTt>aAt	p.I103N		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CAAATGTTTATTTCTTTTGCC	0.488																																						uc011lvo.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						c.(307-309)aTt>aAt		Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.							121.0	115.0	117.0					9																	107331756		2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331756T>A		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.308T>A	9.37:g.107331756T>A	ENSP00000334068:p.Ile103Asn		Somatic					p.I103N	NM_001004483	NP_001004483	WXS	Illumina GAIIx	Phase_I	Q8NGS7	O13C8_HUMAN			0	308	+			103					Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.308T>A	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.018446	0.35606	.	.	ENSG00000186943	ENST00000335040	T	0.01347	4.99	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.622240	0.14048	N	0.344982	T	0.03564	0.0102	M	0.79123	2.44	0.27924	N	0.938123	P	0.41080	0.737	B	0.39590	0.304	T	0.12243	-1.0555	10	0.87932	D	0	.	13.301	0.60326	0.0:0.0:0.0:1.0	.	103	Q8NGS7	O13C8_HUMAN	N	103	ENSP00000334068:I103N	ENSP00000334068:I103N	I	+	2	0	OR13C8	106371577	0.010000	0.17322	0.998000	0.56505	0.272000	0.26649	1.777000	0.38604	2.299000	0.77371	0.533000	0.62120	ATT		0.488	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			6	107	0	0	0	1	0	6	107				
