#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MTF1	4520	broad.mit.edu	37	1	38300817	38300818	+	Missense_Mutation	DNP	AC	AC	TT			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:38300817_38300818AC>TT	ENST00000373036.4	-	6	1063_1064	c.923_924GT>AA	c.(922-924)aGT>aAA	p.S308K		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	308					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTTTCATGTGACTTTTGAGACT	0.406																																						ENST00000373036.4																			0				endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(922-924)agT>agA|c.(922-924)aGt>aAt		metal-regulatory transcription factor 1																																				SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38300817A>T|g.chr1:38300818C>T	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.923_924delinsTT	1.37:g.38300817_38300818delinsTT	ENSP00000362127:p.Ser308Lys		Somatic					p.S308R|p.S308N	NM_005955.2	NP_005946.2	WXS	Illumina GAIIx	Phase_I	Q14872	MTF1_HUMAN			6	1064|1063	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	308					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.924T>A|c.923G>A	CCDS30676.1																																																																																				0.406	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		36|37	73|74	36	73	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74649343	74649343	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:74649343T>C	ENST00000395089.1	-	1	25	c.26A>G	c.(25-27)gAg>gGg	p.E9G	LRRIQ3_ENST00000370911.3_Missense_Mutation_p.E9G|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.E9G|LRRIQ3_ENST00000354431.4_Missense_Mutation_p.E9G			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	9										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ACTGGTTAGCTCTTCTGTGAC	0.313																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(25-27)gAg>gGg		leucine-rich repeats and IQ motif containing 3							54.0	57.0	56.0					1																	74649343		2200	4295	6495	SO:0001583	missense	127255							g.chr1:74649343T>C	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.26A>G	1.37:g.74649343T>C	ENSP00000378524:p.Glu9Gly		Somatic				LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E9G|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.E9G|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.E9G	p.E9G	NM_001105659.1	NP_001099129.1	WXS	Illumina GAIIx	Phase_I	A6PVS8	LRIQ3_HUMAN			2	217	-			9					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.26A>G	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.236251	0.58886	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000370909;ENST00000388972;ENST00000370911	T;T;T;T	0.35973	2.76;2.76;1.28;2.31	5.36	2.94	0.34122	.	0.000000	0.44902	D	0.000403	T	0.09730	0.0239	N	0.24115	0.695	0.09310	N	0.999993	P	0.37015	0.578	B	0.36845	0.234	T	0.08806	-1.0704	10	0.87932	D	0	.	3.8212	0.08836	0.1878:0.0979:0.0:0.7143	.	9	A6PVS8	LRIQ3_HUMAN	G	9	ENSP00000378524:E9G;ENSP00000346414:E9G;ENSP00000359946:E9G;ENSP00000359948:E9G	ENSP00000346414:E9G	E	-	2	0	LRRIQ3	74421931	0.950000	0.32346	0.946000	0.38457	0.873000	0.50193	4.529000	0.60588	2.147000	0.66899	0.533000	0.62120	GAG		0.313	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		8	20	8	20	---	---	---	---
ITPKB	3707	broad.mit.edu	37	1	226924202	226924202	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:226924202C>T	ENST00000272117.3	-	1	957	c.958G>A	c.(958-960)Gat>Aat	p.D320N	ITPKB_ENST00000429204.1_Missense_Mutation_p.D320N|ITPKB_ENST00000366784.1_Missense_Mutation_p.D320N			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	320					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				AGGGCAAGATCCTGTGGACGG	0.627																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(958-960)Gat>Aat		inositol-trisphosphate 3-kinase B							50.0	59.0	56.0					1																	226924202		2203	4300	6503	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226924202C>T	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.958G>A	1.37:g.226924202C>T	ENSP00000272117:p.Asp320Asn		Somatic				ITPKB_ENST00000272117.3_Missense_Mutation_p.D320N|ITPKB_ENST00000366784.1_Missense_Mutation_p.D320N	p.D320N	NM_002221.3	NP_002212.3	WXS	Illumina GAIIx	Phase_I	P27987	IP3KB_HUMAN			2	1285	-		Prostate(94;0.0773)	320					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.958G>A	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133056	0.56828	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.27256	1.72;1.72;1.68	4.3	2.33	0.28932	.	1.009740	0.07952	N	0.981118	T	0.16685	0.0401	N	0.24115	0.695	0.09310	N	1	P	0.48911	0.917	B	0.41135	0.348	T	0.14117	-1.0484	10	0.25751	T	0.34	-4.3258	6.9337	0.24455	0.0:0.7248:0.1767:0.0985	.	320	P27987	IP3KB_HUMAN	N	320	ENSP00000272117:D320N;ENSP00000411152:D320N;ENSP00000355748:D320N	ENSP00000272117:D320N	D	-	1	0	ITPKB	224990825	0.001000	0.12720	0.001000	0.08648	0.607000	0.37147	1.084000	0.30828	0.513000	0.28278	0.561000	0.74099	GAT		0.627	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		5	89	5	89	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121208388	121208388	+	Silent	SNP	A	A	G			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr3:121208388A>G	ENST00000264233.5	-	16	3518	c.3390T>C	c.(3388-3390)aaT>aaC	p.N1130N		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1130					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CAAAATTATCATTAGTTAGTG	0.348								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3388-3390)aaT>aaC	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							87.0	87.0	87.0					3																	121208388		2203	4300	6503	SO:0001819	synonymous_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121208388A>G	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3390T>C	3.37:g.121208388A>G			Somatic					p.N1130N	NM_199420.3	NP_955452.3	WXS	Illumina GAIIx	Phase_I	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	3518	-			1130					O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.3390T>C	CCDS33833.1																																																																																				0.348	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		26	67	26	67	---	---	---	---
PCDHA1	56147	broad.mit.edu	37	5	140167326	140167326	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr5:140167326C>T	ENST00000504120.2	+	1	1451	c.1451C>T	c.(1450-1452)gCg>gTg	p.A484V	PCDHA1_ENST00000394633.3_Missense_Mutation_p.A484V|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A484V	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	484	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCGGACGCGCAGGAGAAC	0.662																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1450-1452)gCg>gTg									66.0	71.0	69.0					5																	140167326		2203	4299	6502	SO:0001583	missense	56147							g.chr5:140167326C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1451C>T	5.37:g.140167326C>T	ENSP00000420840:p.Ala484Val		Somatic				PCDHA1_ENST00000378133.3_Missense_Mutation_p.A484V|PCDHA1_ENST00000394633.3_Missense_Mutation_p.A484V	p.A484V	NM_018900.2	NP_061723.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1451	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1451C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	6.504	0.461164	0.12342	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.01871	4.59;4.59;4.59	3.69	3.69	0.42338	Cadherin (4);Cadherin-like (1);	0.000000	0.41097	U	0.000943	T	0.01870	0.0059	N	0.16862	0.45	0.22996	N	0.998455	B;B;B	0.29188	0.236;0.084;0.198	B;B;B	0.25614	0.053;0.007;0.062	T	0.48681	-0.9014	10	0.45353	T	0.12	.	12.3471	0.55126	0.0:0.7694:0.2306:0.0	.	484;484;484	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	V	484	ENSP00000420840:A484V;ENSP00000378129:A484V;ENSP00000367373:A484V	ENSP00000367373:A484V	A	+	2	0	PCDHA1	140147510	0.000000	0.05858	1.000000	0.80357	0.308000	0.27856	-0.123000	0.10611	1.805000	0.52779	0.549000	0.68633	GCG		0.662	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		6	172	6	172	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69653743	69653743	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr6:69653743G>T	ENST00000370598.1	+	6	1873	c.1052G>T	c.(1051-1053)tGg>tTg	p.W351L		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	351	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGGAGGAATGGTCACCATGG	0.403																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(1051-1053)tGg>tTg		brain-specific angiogenesis inhibitor 3							232.0	188.0	203.0					6																	69653743		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69653743G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1052G>T	6.37:g.69653743G>T	ENSP00000359630:p.Trp351Leu		Somatic					p.W351L	NM_001704.2	NP_001695	WXS	Illumina GAIIx	Phase_I	O60242	BAI3_HUMAN			6	1873	+		all_lung(197;0.212)	351			TSP type-1 2.		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.1052G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113095	0.94339	.	.	ENSG00000135298	ENST00000370598	T	0.63417	-0.04	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.73241	0.3562	H	0.98646	4.29	0.80722	D	1	P	0.36199	0.543	B	0.34991	0.193	T	0.83037	-0.0159	10	0.87932	D	0	.	18.8322	0.92144	0.0:0.0:1.0:0.0	.	351	O60242	BAI3_HUMAN	L	351	ENSP00000359630:W351L	ENSP00000359630:W351L	W	+	2	0	BAI3	69710464	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.673000	0.90976	0.650000	0.86243	TGG		0.403	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			37	94	37	94	---	---	---	---
HIVEP2	3097	broad.mit.edu	37	6	143092407	143092407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr6:143092407G>A	ENST00000367604.1	-	4	4108	c.3469C>T	c.(3469-3471)Cag>Tag	p.Q1157*	HIVEP2_ENST00000367603.2_Nonsense_Mutation_p.Q1157*|HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.Q1157*			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGCATGATCTGTGGCTGGGCC	0.557																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(3469-3471)Cag>Tag		human immunodeficiency virus type I enhancer binding protein 2							78.0	84.0	82.0					6																	143092407		2013	4194	6207	SO:0001587	stop_gained	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143092407G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.3469C>T	6.37:g.143092407G>A	ENSP00000356576:p.Gln1157*		Somatic				HIVEP2_ENST00000367604.1_Nonsense_Mutation_p.Q1157*|HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.Q1157*	p.Q1157*	NM_006734.3	NP_006725.3	WXS	Illumina GAIIx	Phase_I	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	4211	-			1157					Q02646|Q5THT5|Q9NS05	Nonsense_Mutation	SNP	ENST00000367604.1	37	c.3469C>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	45	11.955706	0.99621	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	.	.	.	5.67	4.8	0.61643	.	0.672954	0.15592	N	0.254351	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-17.7177	14.0279	0.64597	0.0737:0.0:0.9263:0.0	.	.	.	.	X	1157	.	ENSP00000012134:Q1157X	Q	-	1	0	HIVEP2	143134100	1.000000	0.71417	0.925000	0.36789	0.435000	0.31806	4.355000	0.59424	2.687000	0.91594	0.563000	0.77884	CAG		0.557	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			5	137	5	137	---	---	---	---
OXR1	55074	broad.mit.edu	37	8	107752617	107752617	+	Missense_Mutation	SNP	T	T	G	rs367716578		TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr8:107752617T>G	ENST00000442977.2	+	13	2312	c.2213T>G	c.(2212-2214)cTt>cGt	p.L738R	OXR1_ENST00000312046.6_Missense_Mutation_p.L703R|OXR1_ENST00000449762.2_Missense_Mutation_p.L80R|OXR1_ENST00000517566.2_Missense_Mutation_p.L737R|OXR1_ENST00000445937.1_Missense_Mutation_p.L710R|OXR1_ENST00000521592.1_5'UTR|OXR1_ENST00000452423.2_Missense_Mutation_p.L158R|OXR1_ENST00000531443.1_Missense_Mutation_p.L710R|OXR1_ENST00000297447.6_Missense_Mutation_p.L107R	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	738	TLD.				adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CCATGGACTCTTGTTTATGGT	0.378																																						ENST00000445937.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(2128-2130)cTt>cGt		oxidation resistance 1							128.0	118.0	122.0					8																	107752617		2203	4299	6502	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107752617T>G	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.2213T>G	8.37:g.107752617T>G	ENSP00000405424:p.Leu738Arg		Somatic				OXR1_ENST00000452423.2_Missense_Mutation_p.L158R|OXR1_ENST00000517566.2_Missense_Mutation_p.L737R|OXR1_ENST00000442977.2_Missense_Mutation_p.L738R|OXR1_ENST00000449762.2_Missense_Mutation_p.L80R|OXR1_ENST00000531443.1_Missense_Mutation_p.L710R|OXR1_ENST00000521592.1_5'UTR|OXR1_ENST00000297447.6_Missense_Mutation_p.L107R|OXR1_ENST00000312046.6_Missense_Mutation_p.L703R	p.L710R	NM_018002.3	NP_060472.2	WXS	Illumina GAIIx	Phase_I	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		13	2390	+			738					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.2129T>G	CCDS56548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.3|24.3	4.511467|4.511467	0.85389|0.85389	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000452423;ENST00000442977;ENST00000312046;ENST00000449762;ENST00000297447|ENST00000519415	T;T;T;T;T;T;T;T|T	0.52526|0.54479	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66|0.57	5.36|5.36	5.36|5.36	0.76844|0.76844	TLDc (2);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.78515|0.78515	0.4295|0.4295	M|M	0.93375|0.93375	3.41|3.41	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;0.999;1.0|.	D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;0.998;0.999;0.999|.	D|D	0.84467|0.84467	0.0597|0.0597	10|8	0.72032|0.62326	D|D	0.01|0.03	-14.6952|-14.6952	15.3618|15.3618	0.74483|0.74483	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	703;738;737;80;107;710|.	Q8N573-2;Q8N573;D3HIS6;B7Z8N5;Q8N573-4;Q8N573-5|.	.;OXR1_HUMAN;.;.;.;.|.	R|V	710;710;737;158;738;703;80;107|382	ENSP00000402918:L710R;ENSP00000431966:L710R;ENSP00000429205:L737R;ENSP00000395032:L158R;ENSP00000405424:L738R;ENSP00000311026:L703R;ENSP00000408659:L80R;ENSP00000297447:L107R|ENSP00000430701:L382V	ENSP00000297447:L107R|ENSP00000430701:L382V	L|L	+|+	2|1	0|2	OXR1|OXR1	107821793|107821793	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.040000|8.040000	0.89188|0.89188	2.018000|2.018000	0.59344|0.59344	0.533000|0.533000	0.62120|0.62120	CTT|TTG		0.378	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		5	98	5	98	---	---	---	---
DFNB31	25861	broad.mit.edu	37	9	117168901	117168901	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr9:117168901G>C	ENST00000362057.3	-	9	2138	c.1970C>G	c.(1969-1971)gCc>gGc	p.A657G	DFNB31_ENST00000374059.3_Missense_Mutation_p.A306G|DFNB31_ENST00000265134.6_Missense_Mutation_p.A274G	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	657	Pro-rich.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTGGGGTTGGCAGGGGAGAC	0.682																																						ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1969-1971)gCc>gGc		deafness, autosomal recessive 31							52.0	59.0	57.0					9																	117168901		2203	4299	6502	SO:0001583	missense	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117168901G>C	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1970C>G	9.37:g.117168901G>C	ENSP00000354623:p.Ala657Gly		Somatic				DFNB31_ENST00000265134.6_Missense_Mutation_p.A274G|DFNB31_ENST00000374059.3_Missense_Mutation_p.A306G	p.A657G	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	WXS	Illumina GAIIx	Phase_I	Q9P202	WHRN_HUMAN			9	2138	-			657			Pro-rich.		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	c.1970C>G	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.299398	0.23650	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.09163	3.93;3.91;3.01	4.93	2.11	0.27256	.	0.317372	0.29093	N	0.013167	T	0.10508	0.0257	M	0.67953	2.075	0.19575	N	0.999962	B;B;B	0.32526	0.203;0.258;0.374	B;B;B	0.26969	0.05;0.075;0.068	T	0.18745	-1.0327	10	0.36615	T	0.2	-18.2912	7.2966	0.26397	0.1459:0.0:0.7164:0.1377	.	657;657;306	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	G	274;306;657	ENSP00000265134:A274G;ENSP00000363172:A306G;ENSP00000354623:A657G	ENSP00000265134:A274G	A	-	2	0	DFNB31	116208722	1.000000	0.71417	0.960000	0.40013	0.307000	0.27823	5.199000	0.65152	0.157000	0.19338	-0.325000	0.08501	GCC		0.682	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		6	151	6	151	---	---	---	---
CUTC	51076	broad.mit.edu	37	10	101503043	101503043	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr10:101503043T>A	ENST00000370476.5	+	4	456	c.327T>A	c.(325-327)taT>taA	p.Y109*	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	109					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		CCAAGCTTTATGGTGCTGATG	0.428																																						ENST00000370476.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(325-327)taT>taA		cutC copper transporter							243.0	224.0	230.0					10																	101503043		2203	4300	6503	SO:0001587	stop_gained	51076				copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding	g.chr10:101503043T>A	AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"""cutC copper transporter homolog (E. coli)"""			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.327T>A	10.37:g.101503043T>A	ENSP00000359507:p.Tyr109*		Somatic				CUTC_ENST00000493385.1_3'UTR	p.Y109*	NM_015960.2	NP_057044.2	WXS	Illumina GAIIx	Phase_I	Q9NTM9	CUTC_HUMAN		Epithelial(162;3e-10)|all cancers(201;2.37e-08)	4	456	+		Colorectal(252;0.234)	109					Q5TCZ8|Q9Y321	Nonsense_Mutation	SNP	ENST00000370476.5	37	c.327T>A	CCDS7483.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820790	0.71028	.	.	ENSG00000119929	ENST00000370476;ENST00000370472	.	.	.	6.07	4.94	0.65067	.	0.155685	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-10.8994	9.565	0.39394	0.0:0.1504:0.0:0.8496	.	.	.	.	X	109;46	.	ENSP00000359503:Y46X	Y	+	3	2	CUTC	101493033	0.992000	0.36948	1.000000	0.80357	0.991000	0.79684	0.201000	0.17276	1.126000	0.42016	0.477000	0.44152	TAT		0.428	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049811.1	NM_015960		10	147	10	147	---	---	---	---
RRAS2	22800	broad.mit.edu	37	11	14316390	14316390	+	Missense_Mutation	SNP	T	T	A	rs113954997		TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr11:14316390T>A	ENST00000256196.4	-	3	528	c.215A>T	c.(214-216)cAa>cTa	p.Q72L	RRAS2_ENST00000545643.1_Missense_Mutation_p.Q78L|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000534746.1_5'UTR			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	72			Q -> L (in an ovarian cancer sample; somatic mutation). {ECO:0000269|PubMed:8052619}.		osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q72L(2)		breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		AAACTCTTCTTGTCCTGCTGT	0.393																																						ENST00000545643.1																			2	Substitution - Missense(2)	p.Q72L(2)	lung(1)|endometrium(1)	breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12						c.(232-234)cAa>cTa		related RAS viral (r-ras) oncogene homolog 2							116.0	118.0	117.0					11																	14316390		2200	4294	6494	SO:0001583	missense	22800					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:14316390T>A	M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.215A>T	11.37:g.14316390T>A	ENSP00000256196:p.Gln72Leu		Somatic				RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000256196.4_Missense_Mutation_p.Q72L|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000414023.2_5'UTR	p.Q78L	NM_012250.5	NP_036382.2	WXS	Illumina GAIIx	Phase_I	P62070	RRAS2_HUMAN		Epithelial(150;0.203)	3	546	-			72					B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Missense_Mutation	SNP	ENST00000256196.4	37	c.233A>T	CCDS7814.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.861739	0.91433	.	.	ENSG00000133818	ENST00000537760;ENST00000545643;ENST00000256196;ENST00000531807	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.57	5.57	0.84162	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	H	0.97365	3.99	0.80722	D	1	D;P	0.67145	0.996;0.946	D;P	0.63033	0.91;0.473	D	0.95850	0.8874	10	0.87932	D	0	.	15.3905	0.74739	0.0:0.0:0.0:1.0	.	78;72	B7Z5Z2;P62070	.;RRAS2_HUMAN	L	37;78;72;53	ENSP00000437547:Q37L;ENSP00000441722:Q78L;ENSP00000256196:Q72L;ENSP00000435453:Q53L	ENSP00000256196:Q72L	Q	-	2	0	RRAS2	14272966	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.702000	0.84576	2.127000	0.65507	0.402000	0.26972	CAA		0.393	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250		11	114	11	114	---	---	---	---
SLC5A12	159963	broad.mit.edu	37	11	26702711	26702711	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr11:26702711C>T	ENST00000396005.3	-	12	1675	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	456					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TAAATGAAGGCCCCAATGGCC	0.468																																						ENST00000396005.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(1366-1368)Gcc>Acc		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							68.0	66.0	67.0					11																	26702711		1901	4117	6018	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26702711C>T	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1366G>A	11.37:g.26702711C>T	ENSP00000379326:p.Ala456Thr		Somatic					p.A456T	NM_178498.3	NP_848593.2	WXS	Illumina GAIIx	Phase_I	Q1EHB4	SC5AC_HUMAN			12	1675	-			456					Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.1366G>A	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919264	0.73098	.	.	ENSG00000148942	ENST00000396005	D	0.86030	-2.06	5.52	3.59	0.41128	.	0.685367	0.11593	U	0.548539	D	0.82356	0.5019	L	0.45137	1.4	0.80722	D	1	P	0.42161	0.772	B	0.40825	0.341	T	0.78848	-0.2042	10	0.72032	D	0.01	.	14.0823	0.64932	0.2476:0.7524:0.0:0.0	.	456	Q1EHB4	SC5AC_HUMAN	T	456	ENSP00000379326:A456T	ENSP00000379326:A456T	A	-	1	0	SLC5A12	26659287	0.164000	0.22935	0.975000	0.42487	0.947000	0.59692	2.443000	0.44881	0.639000	0.30564	0.655000	0.94253	GCC		0.468	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		11	20	11	20	---	---	---	---
OR8K3	219473	broad.mit.edu	37	11	56085932	56085932	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr11:56085932G>T	ENST00000312711.1	+	1	150	c.150G>T	c.(148-150)aaG>aaT	p.K50N		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TCCTCACCAAGTTGGACTCCA	0.433																																						ENST00000312711.1																			0				central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(148-150)aaG>aaT		olfactory receptor, family 8, subfamily K, member 3							215.0	202.0	206.0					11																	56085932		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56085932G>T	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.150G>T	11.37:g.56085932G>T	ENSP00000323555:p.Lys50Asn		Somatic					p.K50N	NM_001005202.1	NP_001005202.1	WXS	Illumina GAIIx	Phase_I	Q8NH51	OR8K3_HUMAN			1	150	+	Esophageal squamous(21;0.00448)		50					Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.150G>T	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	G	1.754	-0.488616	0.04352	.	.	ENSG00000181689	ENST00000312711	T	0.03004	4.08	4.56	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.390052	0.24766	N	0.035763	T	0.02727	0.0082	L	0.33137	0.985	0.09310	N	1	B	0.12630	0.006	B	0.15870	0.014	T	0.45702	-0.9243	10	0.22706	T	0.39	.	4.8843	0.13696	0.1826:0.0:0.648:0.1693	.	50	Q8NH51	OR8K3_HUMAN	N	50	ENSP00000323555:K50N	ENSP00000323555:K50N	K	+	3	2	OR8K3	55842508	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-1.033000	0.03571	0.249000	0.21456	-0.154000	0.13518	AAG		0.433	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		36	140	36	140	---	---	---	---
PRB4	5545	broad.mit.edu	37	12	11461642	11461642	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr12:11461642G>A	ENST00000535904.1	-	3	308	c.275C>T	c.(274-276)cCc>cTc	p.P92L	PRB4_ENST00000279575.1_Missense_Mutation_p.P92L|PRB4_ENST00000445719.2_Missense_Mutation_p.P92L			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	113	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542). {ECO:0000305}.		extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						ATGAGGTGGGGGACCTTGGGA	0.612										HNSCC(22;0.051)																												ENST00000279575.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						c.(274-276)cCc>cTc		proline-rich protein BstNI subfamily 4							313.0	336.0	328.0					12																	11461642		2203	4300	6503	SO:0001583	missense	5545					extracellular region		g.chr12:11461642G>A		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.275C>T	12.37:g.11461642G>A	ENSP00000442834:p.Pro92Leu	HNSCC(22;0.051)	Somatic				PRB4_ENST00000535904.1_Missense_Mutation_p.P92L|PRB4_ENST00000445719.2_Missense_Mutation_p.P92L	p.P92L	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	WXS	Illumina GAIIx	Phase_I	P10163	PRB4_HUMAN			3	308	-			92	Missing (in Ref. 7; CAA30542).		9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	c.275C>T	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	5.562	0.288588	0.10513	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.05996	3.36;3.36;3.36	0.805	0.805	0.18703	.	.	.	.	.	T	0.18882	0.0453	M	0.76574	2.34	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.05903	-1.0857	9	0.66056	D	0.02	.	4.9008	0.13773	0.0:0.0:1.0:0.0	.	92	E9PAL0	.	L	92	ENSP00000279575:P92L;ENSP00000442834:P92L;ENSP00000412740:P92L	ENSP00000279575:P92L	P	-	2	0	PRB4	11352909	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-0.289000	0.08365	0.698000	0.31739	0.205000	0.17691	CCC		0.612	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		7	662	7	662	---	---	---	---
KCTD10	83892	broad.mit.edu	37	12	109894046	109894046	+	Silent	SNP	G	G	C			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr12:109894046G>C	ENST00000228495.6	-	6	881	c.600C>G	c.(598-600)gtC>gtG	p.V200V	KCTD10_ENST00000424763.2_Silent_p.V19V|KCTD10_ENST00000540411.1_Silent_p.V174V|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540089.1_Silent_p.V19V	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	200					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						TTATGAACAGGACCCTTCCGT	0.438																																						ENST00000228495.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						c.(598-600)gtC>gtG		potassium channel tetramerization domain containing 10							158.0	143.0	148.0					12																	109894046		2203	4300	6503	SO:0001819	synonymous_variant	83892				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:109894046G>C	BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"""BTB/POZ domain containing"""	23236	protein-coding gene	gene with protein product		613421	"""potassium channel tetramerisation domain containing 10"""			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.600C>G	12.37:g.109894046G>C			Somatic				KCTD10_ENST00000540089.1_Silent_p.V19V|KCTD10_ENST00000540411.1_Silent_p.V174V|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Silent_p.V19V	p.V200V	NM_031954.3	NP_114160.1	WXS	Illumina GAIIx	Phase_I	Q9H3F6	BACD3_HUMAN			6	881	-			200					Q53HN2|Q59FV1|Q6PL47|Q96SU0	Silent	SNP	ENST00000228495.6	37	c.600C>G	CCDS9128.1	.	.	.	.	.	.	.	.	.	.	G	9.161	1.018801	0.19355	.	.	ENSG00000110906	ENST00000538161	.	.	.	4.65	3.75	0.43078	.	.	.	.	.	T	0.69052	0.3068	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68693	-0.5341	4	.	.	.	-30.2303	13.7571	0.62943	0.0:0.3124:0.6876:0.0	.	.	.	.	C	166	.	.	S	-	2	0	KCTD10	108378429	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.680000	0.25306	1.292000	0.44672	0.561000	0.74099	TCC		0.438	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403099.1	NM_031954		12	86	12	86	---	---	---	---
ZSCAN10	84891	broad.mit.edu	37	16	3140420	3140420	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr16:3140420G>A	ENST00000252463.2	-	5	937	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.P202S	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	284					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TTGGGCTCGGGGACGCCCTCA	0.662																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(850-852)Ccc>Tcc		zinc finger and SCAN domain containing 10							68.0	71.0	70.0					16																	3140420		2181	4273	6454	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140420G>A	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.850C>T	16.37:g.3140420G>A	ENSP00000252463:p.Pro284Ser		Somatic				ZSCAN10_ENST00000538082.2_Missense_Mutation_p.P202S|ZSCAN10_ENST00000575108.1_5'UTR	p.P284S	NM_032805.1	NP_116194.1	WXS	Illumina GAIIx	Phase_I	Q96SZ4	ZSC10_HUMAN			5	937	-			284					B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.850C>T	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	G	9.003	0.980565	0.18812	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.05786	3.39	4.42	-4.89	0.03103	.	1.415250	0.04617	N	0.401312	T	0.02970	0.0088	N	0.08118	0	0.09310	N	0.999998	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.44528	-0.9322	10	0.23302	T	0.38	-1.2691	5.5691	0.17187	0.3555:0.4048:0.2397:0.0	.	217;284	Q1WWM2;Q96SZ4	.;ZSC10_HUMAN	S	217;284	ENSP00000252463:P284S	ENSP00000252463:P284S	P	-	1	0	ZSCAN10	3080421	0.000000	0.05858	0.000000	0.03702	0.131000	0.20780	-1.407000	0.02488	-1.091000	0.03065	0.462000	0.41574	CCC		0.662	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		6	237	6	237	---	---	---	---
CTC1	80169	broad.mit.edu	37	17	8141481	8141481	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr17:8141481T>C	ENST00000315684.8	-	4	522	c.515A>G	c.(514-516)aAt>aGt	p.N172S	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	172					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CCCTGAGGAATTCCACCTGGC	0.557																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(514-516)aAt>aGt		CTS telomere maintenance complex component 1							70.0	77.0	75.0					17																	8141481		1957	4159	6116	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8141481T>C	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.515A>G	17.37:g.8141481T>C	ENSP00000313759:p.Asn172Ser		Somatic				CTC1_ENST00000581671.1_5'UTR	p.N172S	NM_025099.5	NP_079375.3	WXS	Illumina GAIIx	Phase_I	Q2NKJ3	CTC1_HUMAN			4	522	-			172					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.515A>G	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.525262	0.27299	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.82893	-1.66;-1.66	5.51	1.74	0.24563	.	0.610508	0.17394	N	0.175836	T	0.65954	0.2741	N	0.13043	0.29	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.52682	-0.8543	10	0.32370	T	0.25	-1.3407	7.0049	0.24830	0.0:0.3265:0.0:0.6735	.	172	Q2NKJ3	CTC1_HUMAN	S	172	ENSP00000313759:N172S;ENSP00000396018:N172S	ENSP00000313759:N172S	N	-	2	0	CTC1	8082206	0.000000	0.05858	0.445000	0.26908	0.193000	0.23685	0.313000	0.19415	0.421000	0.25980	0.459000	0.35465	AAT		0.557	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		22	75	22	75	---	---	---	---
CT47B1	643311	broad.mit.edu	37	X	120008936	120008936	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chrX:120008936G>A	ENST00000371311.3	-	1	843	c.589C>T	c.(589-591)Cag>Tag	p.Q197*		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	197										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCGGCCTCCTGGACCGACGCA	0.706																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(589-591)Cag>Tag		cancer/testis antigen family 47, member B1							27.0	27.0	27.0					X																	120008936		692	1589	2281	SO:0001587	stop_gained	643311							g.chrX:120008936G>A		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.589C>T	X.37:g.120008936G>A	ENSP00000360360:p.Gln197*		Somatic					p.Q197*	NM_001145718.1	NP_001139190.1	WXS	Illumina GAIIx	Phase_I	P0C2W7	CT47B_HUMAN			1	843	-			197					A6NM97	Nonsense_Mutation	SNP	ENST00000371311.3	37	c.589C>T	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772063	0.69992	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.76	-0.299	0.12808	.	.	.	.	.	.	.	.	.	.	.	0.49798	A	0.99982	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	3.266	0.06865	0.237:0.3792:0.3838:0.0	.	.	.	.	X	197	.	ENSP00000360360:Q197X	Q	-	1	0	CT47B1	119892964	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	0.113000	0.15499	-0.177000	0.10690	0.171000	0.16805	CAG		0.706	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		5	85	5	85	---	---	---	---
GPC3	2719	broad.mit.edu	37	X	132887602	132887602	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chrX:132887602G>C	ENST00000370818.3	-	3	1384	c.939C>G	c.(937-939)atC>atG	p.I313M	GPC3_ENST00000543339.1_Missense_Mutation_p.I259M|GPC3_ENST00000394299.2_Missense_Mutation_p.I313M	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	313					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CCATGTCATAGATTCTGTACA	0.443			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													ENST00000370818.3			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	"""T, D, Mis, N, F, S"""	glypican 3			O		Wilms tumour			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36						c.(937-939)atC>atG		glypican 3							560.0	360.0	427.0					X																	132887602		2203	4300	6503	SO:0001583	missense	2719	Simpson-Golabi-Behmel syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132887602G>C	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.939C>G	X.37:g.132887602G>C	ENSP00000359854:p.Ile313Met		Somatic				GPC3_ENST00000543339.1_Missense_Mutation_p.I259M|GPC3_ENST00000394299.2_Missense_Mutation_p.I313M	p.I313M	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	WXS	Illumina GAIIx	Phase_I	P51654	GPC3_HUMAN			3	1384	-	Acute lymphoblastic leukemia(192;0.000127)		313					C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	c.939C>G	CCDS14638.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.265|5.265	0.234298|0.234298	0.09969|0.09969	.|.	.|.	ENSG00000147257|ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339|ENST00000406757	T;T;T|.	0.49720|.	0.77;0.77;0.77|.	5.7|5.7	2.77|2.77	0.32553|0.32553	.|.	0.240320|.	0.43747|.	D|.	0.000531|.	T|T	0.24890|0.24890	0.0604|0.0604	N|N	0.24115|0.24115	0.695|0.695	0.27223|0.27223	N|N	0.959615|0.959615	B;B;B;B|.	0.23128|.	0.08;0.065;0.002;0.08|.	B;B;B;B|.	0.29663|.	0.105;0.064;0.01;0.105|.	T|T	0.17501|0.17501	-1.0367|-1.0367	10|5	0.40728|.	T|.	0.16|.	.|.	7.0642|7.0642	0.25143|0.25143	0.1562:0.0:0.7052:0.1386|0.1562:0.0:0.7052:0.1386	.|.	297;259;313;313|.	B4DTD8;G3V1R0;C9JLE3;P51654|.	.;.;.;GPC3_HUMAN|.	M|C	313;313;259|43	ENSP00000359854:I313M;ENSP00000377836:I313M;ENSP00000444222:I259M|.	ENSP00000359854:I313M|.	I|S	-|-	3|2	3|0	GPC3|GPC3	132715268|132715268	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	0.683000|0.683000	0.25349|0.25349	1.172000|1.172000	0.42781|0.42781	0.594000|0.594000	0.82650|0.82650	ATC|TCT		0.443	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		4	97	4	97	---	---	---	---
OR5M10	390167	broad.mit.edu	37	11	56344440	56344440	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr11:56344440delC	ENST00000526812.2	-	1	823	c.758delG	c.(757-759)ggafs	p.G253fs		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GAAGAGGGTTCCATAAAACAA	0.438																																						ENST00000526812.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						c.(757-759)ggafs		olfactory receptor, family 5, subfamily M, member 10							102.0	99.0	100.0					11																	56344440		1802	4048	5850	SO:0001589	frameshift_variant	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344440delC	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.758delG	11.37:g.56344440delC	ENSP00000436004:p.Gly253fs		Somatic					p.G253fs	NM_001004741.1	NP_001004741.1	WXS	Illumina GAIIx	Phase_I	Q6IEU7	OR5MA_HUMAN			1	823	-			253					B9EIL9	Frame_Shift_Del	DEL	ENST00000526812.2	37	c.758delG	CCDS53630.1																																																																																				0.438	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		48	184	48	184	---	---	---	---
