#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
OTOGL	283310	broad.mit.edu	37	12	80650233	80650233	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr12:80650233C>A	ENST00000547103.1	+	16	1683	c.1677C>A	c.(1675-1677)aaC>aaA	p.N559K	OTOGL_ENST00000458043.2_Missense_Mutation_p.N559K			Q3ZCN5	OTOGL_HUMAN	otogelin-like	559	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AAGGCTTCAACCTGAATGGTA	0.388																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(1675-1677)aaC>aaA		otogelin-like							68.0	62.0	64.0					12																	80650233		1907	4117	6024	SO:0001583	missense	283310							g.chr12:80650233C>A	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1677C>A	12.37:g.80650233C>A	ENSP00000447211:p.Asn559Lys					OTOGL_ENST00000547103.1_Missense_Mutation_p.N559K	p.N559K	NM_173591.3	NP_775862.3					16	1683	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.1677C>A		.	.	.	.	.	.	.	.	.	.	C	10.84	1.463019	0.26248	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.57436	0.4;0.4	5.66	0.131	0.14755	.	.	.	.	.	T	0.17066	0.0410	N	0.00661	-1.28	0.20074	N	0.999938	.	.	.	.	.	.	T	0.19063	-1.0317	7	0.30078	T	0.28	.	6.0626	0.19846	0.0:0.3439:0.1321:0.524	.	.	.	.	K	559	ENSP00000447211:N559K;ENSP00000400895:N559K	ENSP00000400895:N559K	N	+	3	2	OTOGL	79174364	0.216000	0.23585	0.978000	0.43139	0.933000	0.57130	0.342000	0.19926	0.063000	0.16370	-0.355000	0.07637	AAC		0.388	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		2	11	1	0	1	1	1	2	11				
ST5	6764	broad.mit.edu	37	11	8752316	8752316	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr11:8752316C>T	ENST00000534127.1	-	6	906	c.521G>A	c.(520-522)cGc>cAc	p.R174H	ST5_ENST00000357665.1_Missense_Mutation_p.R174H|ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R174H	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	174					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CGCCTCTCGGCGACCTTCCCA	0.706																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(520-522)cGc>cAc		suppression of tumorigenicity 5							27.0	29.0	28.0					11																	8752316		2199	4271	6470	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8752316C>T	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.521G>A	11.37:g.8752316C>T	ENSP00000433528:p.Arg174His					ST5_ENST00000530438.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.R174H|ST5_ENST00000313726.6_Missense_Mutation_p.R174H|ST5_ENST00000526757.1_Intron	p.R174H	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	6	906	-			174					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.521G>A	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481162	0.84747	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665	T;T;T	0.27256	1.68;1.68;1.68	6.03	5.12	0.69794	.	0.049824	0.85682	D	0.000000	T	0.29783	0.0744	L	0.61218	1.895	0.58432	D	0.999993	B	0.23128	0.08	B	0.15052	0.012	T	0.07404	-1.0774	10	0.87932	D	0	-15.1838	15.343	0.74311	0.0:0.9334:0.0:0.0666	.	174	P78524	ST5_HUMAN	H	174	ENSP00000433528:R174H;ENSP00000319678:R174H;ENSP00000350294:R174H	ENSP00000319678:R174H	R	-	2	0	ST5	8708892	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.438000	0.80431	1.563000	0.49615	-0.140000	0.14226	CGC		0.706	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		3	67	0	0	0	1	0	3	67				
CDHR1	92211	broad.mit.edu	37	10	85972118	85972118	+	Silent	SNP	C	C	T	rs200215278		TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr10:85972118C>T	ENST00000372117.3	+	15	1840	c.1737C>T	c.(1735-1737)agC>agT	p.S579S	CDHR1_ENST00000440770.2_Silent_p.S283S|CDHR1_ENST00000332904.3_Silent_p.S579S	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	579	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TTGGAAAGAGCGTTCAGAAGA	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		20075	0.0		0.001	False		,,,				2504	0.0					ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(1735-1737)agC>agT		cadherin-related family member 1							139.0	126.0	130.0					10																	85972118		2203	4300	6503	SO:0001819	synonymous_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85972118C>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1737C>T	10.37:g.85972118C>T						CDHR1_ENST00000440770.2_Silent_p.S283S|CDHR1_ENST00000332904.3_Silent_p.S579S	p.S579S	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			15	1840	+			579			Cadherin 6.		Q69YZ8|Q8IXY5	Silent	SNP	ENST00000372117.3	37	c.1737C>T	CCDS7372.1																																																																																				0.517	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		3	118	0	0	0	1	0	3	118				
KIF11	3832	broad.mit.edu	37	10	94405250	94405250	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr10:94405250C>T	ENST00000260731.3	+	18	2488	c.2398C>T	c.(2398-2400)Cac>Tac	p.H800Y		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	800					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCTGTGAAACACTCTGATAA	0.353																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2398-2400)Cac>Tac		kinesin family member 11							68.0	69.0	69.0					10																	94405250		2203	4300	6503	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94405250C>T	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.2398C>T	10.37:g.94405250C>T	ENSP00000260731:p.His800Tyr						p.H800Y	NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			18	2488	+			800					A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.2398C>T	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	C	0.797	-0.756724	0.03019	.	.	ENSG00000138160	ENST00000260731	T	0.72505	-0.66	6.08	2.24	0.28232	.	0.561084	0.21064	N	0.080764	T	0.54175	0.1842	L	0.29908	0.895	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.44375	-0.9332	10	0.42905	T	0.14	.	7.4033	0.26977	0.0:0.6682:0.0:0.3318	.	800	P52732	KIF11_HUMAN	Y	800	ENSP00000260731:H800Y	ENSP00000260731:H800Y	H	+	1	0	KIF11	94395230	0.223000	0.23663	0.048000	0.18961	0.106000	0.19336	0.240000	0.18042	0.467000	0.27218	-0.216000	0.12614	CAC		0.353	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		4	46	0	0	0	1	0	4	46				
CACNA2D1	781	broad.mit.edu	37	7	81591292	81591292	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr7:81591292A>C	ENST00000356253.5	-	36	3175	c.2920T>G	c.(2920-2922)Tgc>Ggc	p.C974G	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.C962G|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.C174G			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	974					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCAGTAATGCAGCTCTGCTTG	0.448																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2884-2886)Tgc>Ggc		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						133.0	124.0	127.0					7																	81591292		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81591292A>C	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2920T>G	7.37:g.81591292A>C	ENSP00000348589:p.Cys974Gly					CACNA2D1_ENST00000356253.5_Missense_Mutation_p.C974G|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.C174G	p.C962G	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			36	3222	-			974					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2884T>G		.	.	.	.	.	.	.	.	.	.	A	24.0	4.482416	0.84747	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.78595	-1.19;-1.19;-1.19	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	M	0.83603	2.65	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90465	0.4449	10	0.87932	D	0	-13.6937	15.3769	0.74615	1.0:0.0:0.0:0.0	.	174;962	B7Z658;P54289-2	.;.	G	962;981;974;174	ENSP00000349320:C962G;ENSP00000348589:C974G;ENSP00000443124:C174G	ENSP00000284088:C981G	C	-	1	0	CACNA2D1	81429228	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.841000	0.92131	2.093000	0.63338	0.529000	0.55759	TGC		0.448	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				10	57	0	0	0	1	0	10	57				
CANT1	124583	broad.mit.edu	37	17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr17:76993313T>C	ENST00000302345.2	-	2	886	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R|CANT1_ENST00000591773.1_Missense_Mutation_p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577			T	ETV4	prostate																																	ENST00000302345.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(391-393)aAg>aGg		calcium activated nucleotidase 1							184.0	181.0	182.0					17																	76993313		2203	4300	6503	SO:0001583	missense	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76993313T>C	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.392A>G	17.37:g.76993313T>C	ENSP00000307674:p.Lys131Arg					CANT1_ENST00000392446.5_Missense_Mutation_p.K131R|CANT1_ENST00000591773.1_Missense_Mutation_p.K131R	p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		2	886	-			131					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	c.392A>G	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501139	0.26861	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000537282;ENST00000339300	D;D	0.85773	-2.03;-2.03	5.27	4.19	0.49359	.	0.099573	0.64402	D	0.000002	T	0.71065	0.3296	N	0.20357	0.565	0.50632	D	0.999887	B	0.06786	0.001	B	0.10450	0.005	T	0.59440	-0.7454	10	0.13108	T	0.6	-30.8089	8.2417	0.31665	0.0:0.1541:0.0:0.8459	.	131	Q8WVQ1	CANT1_HUMAN	R	131;131;131;80	ENSP00000307674:K131R;ENSP00000376241:K131R	ENSP00000307674:K131R	K	-	2	0	CANT1	74504908	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.832000	0.39151	0.845000	0.35118	0.459000	0.35465	AAG		0.577	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		5	377	0	0	0	1	0	5	377				
OR2T4	127074	broad.mit.edu	37	1	248524937	248524937	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr1:248524937A>T	ENST00000366475.1	+	1	55	c.55A>T	c.(55-57)Atg>Ttg	p.M19L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTCATCCTGATGGGACTCTT	0.488																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(55-57)Atg>Ttg		olfactory receptor, family 2, subfamily T, member 4							94.0	84.0	88.0					1																	248524937		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248524937A>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.55A>T	1.37:g.248524937A>T	ENSP00000355431:p.Met19Leu						p.M19L	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	55	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		19					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.55A>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	A	8.156	0.788354	0.16258	.	.	ENSG00000196944	ENST00000366475	T	0.01464	4.86	1.18	-0.177	0.13307	.	.	.	.	.	T	0.00875	0.0029	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48151	-0.9060	9	0.07990	T	0.79	.	3.8757	0.09056	0.685:0.0:0.315:0.0	.	19	Q8NH00	OR2T4_HUMAN	L	19	ENSP00000355431:M19L	ENSP00000355431:M19L	M	+	1	0	OR2T4	246591560	0.000000	0.05858	0.143000	0.22291	0.062000	0.15995	-0.693000	0.05121	-0.020000	0.14032	0.381000	0.24937	ATG		0.488	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		3	84	0	0	0	1	0	3	84				
YARS2	51067	broad.mit.edu	37	12	32903753	32903753	+	Silent	SNP	G	G	A			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr12:32903753G>A	ENST00000324868.8	-	3	1030	c.1003C>T	c.(1003-1005)Ctg>Ttg	p.L335L	YARS2_ENST00000551673.1_5'Flank	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	335					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TTGACATGCAGCTGCATGATA	0.428																																						ENST00000324868.8																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1003-1005)Ctg>Ttg		tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)						91.0	84.0	86.0					12																	32903753		2203	4300	6503	SO:0001819	synonymous_variant	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32903753G>A	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.1003C>T	12.37:g.32903753G>A							p.L335L	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN			3	1030	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		335					D3DUW8|Q9H817	Silent	SNP	ENST00000324868.8	37	c.1003C>T	CCDS31770.1																																																																																				0.428	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		3	74	0	0	0	1	0	3	74				
MMP16	4325	broad.mit.edu	37	8	89128877	89128877	+	Silent	SNP	C	C	T			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr8:89128877C>T	ENST00000286614.6	-	6	1223	c.942G>A	c.(940-942)ccG>ccA	p.P314P	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	314					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P314P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TTGGGTCAGCCGGAGGAATAG	0.537																																						ENST00000286614.6																			1	Substitution - coding silent(1)	p.P314P(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(940-942)ccG>ccA		matrix metallopeptidase 16 (membrane-inserted)							201.0	204.0	203.0					8																	89128877		2203	4300	6503	SO:0001819	synonymous_variant	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89128877C>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.942G>A	8.37:g.89128877C>T						MMP16_ENST00000544227.1_5'UTR	p.P314P	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			6	1223	-			314					B2RAN7|Q14824|Q52H48	Silent	SNP	ENST00000286614.6	37	c.942G>A	CCDS6246.1																																																																																				0.537	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		22	179	0	0	0	1	0	22	179				
ZNF91	7644	broad.mit.edu	37	19	23544783	23544783	+	Missense_Mutation	SNP	C	C	T	rs410211		TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr19:23544783C>T	ENST00000300619.7	-	4	1203	c.998G>A	c.(997-999)cGt>cAt	p.R333H	ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	333				R -> H (in Ref. 1; AAA59469). {ECO:0000305}.	transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R333H(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAACGGCTAAAAGC	0.393																																						ENST00000300619.7																			1	Substitution - Missense(1)	p.R333H(1)	large_intestine(1)								c.(997-999)cGt>cAt		zinc finger protein 91							72.0	76.0	75.0					19																	23544783		2120	4254	6374	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544783C>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.998G>A	19.37:g.23544783C>T	ENSP00000300619:p.Arg333His					ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron	p.R333H	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1203	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	333	R -> H (in Ref. 1; AAA59469).				A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.998G>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	4.408	0.075438	0.08485	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17854	2.25;2.25	1.97	-3.94	0.04130	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07279	0.0184	N	0.20845	0.615	0.09310	N	1	P;D	0.61080	0.566;0.989	B;B	0.41988	0.043;0.372	T	0.25257	-1.0137	9	0.14252	T	0.57	.	3.5074	0.07696	0.1773:0.4543:0.0:0.3684	rs410211	301;333	Q05481-2;Q05481	.;ZNF91_HUMAN	H	333;301	ENSP00000300619:R333H;ENSP00000380272:R301H	ENSP00000300619:R333H	R	-	2	0	ZNF91	23336623	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.698000	0.01908	-0.928000	0.03761	0.162000	0.16502	CGT		0.393	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		3	77	0	0	0	1	0	3	77				
COL12A1	1303	broad.mit.edu	37	6	75855959	75855959	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr6:75855959C>A	ENST00000322507.8	-	24	4728	c.4419G>T	c.(4417-4419)ttG>ttT	p.L1473F	COL12A1_ENST00000483888.2_Splice_Site_p.L1473F|COL12A1_ENST00000345356.6_Splice_Site_p.L309F|COL12A1_ENST00000416123.2_Splice_Site_p.L1473F	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1473	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGGCACTGGCACTTCCAAAA	0.418																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.e24-1		collagen, type XII, alpha 1							69.0	64.0	66.0					6																	75855959		1979	4169	6148	SO:0001630	splice_region_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75855959C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.4418-1G>T	6.37:g.75855959C>A						COL12A1_ENST00000416123.2_Splice_Site_p.L1473_splice|COL12A1_ENST00000483888.2_Splice_Site_p.L1473_splice|COL12A1_ENST00000345356.6_Splice_Site_p.L309_splice	p.L1473_splice	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			24	4728	-			1473					O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Splice_Site	SNP	ENST00000322507.8	37	c.4417_splice	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.89|14.89	2.669191|2.669191	0.47677|0.47677	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000419671|ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.|T;T;T;T	.|0.55052	.|0.54;0.54;0.54;0.54	4.89|4.89	3.11|3.11	0.35812|0.35812	.|Fibronectin, type III (1);	.|0.466770	.|0.21061	.|N	.|0.080827	T|T	0.49609|0.49609	0.1567|0.1567	M|M	0.81497|0.81497	2.545|2.545	0.33832|0.33832	D|D	0.630412|0.630412	.|D;P	.|0.57571	.|0.98;0.737	.|P;B	.|0.53450	.|0.726;0.336	T|T	0.54503|0.54503	-0.8284|-0.8284	5|10	.|0.52906	.|T	.|0.07	.|.	7.6672|7.6672	0.28439|0.28439	0.1326:0.7221:0.0:0.1453|0.1326:0.7221:0.0:0.1453	.|.	.|309;1473	.|Q99715-2;Q99715	.|.;COCA1_HUMAN	S|F	215|1473;1473;309;1473;1473	.|ENSP00000325146:L1473F;ENSP00000305147:L309F;ENSP00000412864:L1473F;ENSP00000421216:L1473F	.|ENSP00000325146:L1473F	A|L	-|-	1|3	0|2	COL12A1|COL12A1	75912679|75912679	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.620000|0.620000	0.37586|0.37586	0.904000|0.904000	0.28491|0.28491	0.592000|0.592000	0.29728|0.29728	0.655000|0.655000	0.94253|0.94253	GCC|TTG		0.418	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	Missense_Mutation	4	26	1	0	0.150653	1	0.159784	4	26				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	37	0	0	0	1	0	3	37				
SON	6651	broad.mit.edu	37	21	34931659	34931659	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr21:34931659A>C	ENST00000356577.4	+	5	6920	c.6445A>C	c.(6445-6447)Aaa>Caa	p.K2149Q	SON_ENST00000290239.6_Missense_Mutation_p.K2149Q|SON_ENST00000300278.4_Missense_Mutation_p.K2149Q|SON_ENST00000381692.2_Missense_Mutation_p.K177Q	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2149					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CAGTGAACCCAAACCTATTTT	0.323																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(6445-6447)Aaa>Caa		SON DNA binding protein							144.0	148.0	147.0					21																	34931659		2203	4298	6501	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34931659A>C	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6445A>C	21.37:g.34931659A>C	ENSP00000348984:p.Lys2149Gln					SON_ENST00000300278.4_Missense_Mutation_p.K2149Q|SON_ENST00000381692.2_Missense_Mutation_p.K177Q|SON_ENST00000290239.6_Missense_Mutation_p.K2149Q	p.K2149Q	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			5	6920	+			2149					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.6445A>C	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.238878	0.39598	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000381692;ENST00000300278;ENST00000421541	T;T;T	0.11930	2.78;2.76;2.73	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000018	T	0.32763	0.0840	L	0.50333	1.59	0.43846	D	0.996436	D;D;D;D;D	0.89917	1.0;0.985;0.999;1.0;1.0	D;P;D;D;D	0.91635	0.999;0.636;0.994;0.999;0.997	T	0.02275	-1.1184	10	0.66056	D	0.02	.	15.7192	0.77694	1.0:0.0:0.0:0.0	.	2149;177;2149;1830;2149	P18583-10;Q6ZRV7;P18583;P18583-2;P18583-3	.;.;SON_HUMAN;.;.	Q	2149;2149;177;2149;210	ENSP00000348984:K2149Q;ENSP00000290239:K2149Q;ENSP00000300278:K2149Q	ENSP00000290239:K2149Q	K	+	1	0	SON	33853529	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.524000	0.81866	2.175000	0.68902	0.528000	0.53228	AAA		0.323	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		12	95	0	0	0	1	0	12	95				
CATSPER2	117155	broad.mit.edu	37	15	43924399	43924399	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr15:43924399G>C	ENST00000321596.5	-	12	1758	c.1559C>G	c.(1558-1560)gCa>gGa	p.A520G	CATSPER2_ENST00000355438.2_3'UTR|CATSPER2_ENST00000354127.4_Missense_Mutation_p.A518G|CATSPER2_ENST00000381761.1_Missense_Mutation_p.A524G|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000396879.1_Missense_Mutation_p.A518G			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	520					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CTCCATACCTGCAAACTCTTG	0.453																																						ENST00000396879.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(1552-1554)gCa>gGa		cation channel, sperm associated 2							85.0	79.0	81.0					15																	43924399		2199	4297	6496	SO:0001583	missense	117155				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	g.chr15:43924399G>C	AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.1559C>G	15.37:g.43924399G>C	ENSP00000321463:p.Ala520Gly					CATSPER2_ENST00000321596.5_Missense_Mutation_p.A520G|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000381761.1_Missense_Mutation_p.A524G|CATSPER2_ENST00000355438.2_3'UTR|CATSPER2_ENST00000354127.4_Missense_Mutation_p.A518G	p.A518G			Q96P56	CTSR2_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	13	1665	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	520					Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	ENST00000321596.5	37	c.1553C>G	CCDS10099.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.897266	0.72639	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127	D;D;D;D	0.97642	-4.45;-4.47;-4.46;-4.45	4.43	4.43	0.53597	.	0.000000	0.56097	D	0.000023	D	0.97914	0.9314	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;0.988	D;P	0.71414	0.973;0.868	D	0.98072	1.0399	10	0.72032	D	0.01	.	12.7914	0.57537	0.0:0.0:1.0:0.0	.	524;520	F8W9H2;Q96P56	.;CTSR2_HUMAN	G	518;520;524;520;518	ENSP00000380088:A518G;ENSP00000371180:A524G;ENSP00000321463:A520G;ENSP00000339137:A518G	ENSP00000299989:A520G	A	-	2	0	CATSPER2	41711691	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	5.580000	0.67464	2.446000	0.82766	0.644000	0.83932	GCA		0.453	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020		3	77	0	0	0	1	0	3	77				
RNF8	9025	broad.mit.edu	37	6	37336290	37336290	+	Missense_Mutation	SNP	C	C	T	rs372903665		TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr6:37336290C>T	ENST00000373479.4	+	3	464	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	RNF8_ENST00000469731.1_Missense_Mutation_p.R91C|RNF8_ENST00000479516.1_3'UTR	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	91	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GAACAGAGCGCGTCTGGAACC	0.423																																						ENST00000373479.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						c.(271-273)Cgt>Tgt		ring finger protein 8, E3 ubiquitin protein ligase							122.0	126.0	125.0					6																	37336290		2203	4300	6503	SO:0001583	missense	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37336290C>T	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.271C>T	6.37:g.37336290C>T	ENSP00000362578:p.Arg91Cys					RNF8_ENST00000469731.1_Missense_Mutation_p.R91C|RNF8_ENST00000479516.1_3'UTR	p.R91C	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN			3	464	+			91			FHA.		A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	c.271C>T	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393911	0.62066	.	.	ENSG00000112130	ENST00000373479;ENST00000487950;ENST00000469731	D;D;D	0.89746	-2.56;-2.56;-2.56	5.85	4.99	0.66335	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.058435	0.64402	D	0.000002	D	0.89301	0.6676	H	0.97918	4.105	0.80722	D	1	P;B	0.43024	0.798;0.348	B;B	0.36608	0.229;0.178	D	0.90870	0.4745	10	0.87932	D	0	-7.0622	8.9192	0.35601	0.1479:0.778:0.0:0.0741	.	34;91	C9J858;O76064	.;RNF8_HUMAN	C	91;34;91	ENSP00000362578:R91C;ENSP00000417736:R34C;ENSP00000418879:R91C	ENSP00000362578:R91C	R	+	1	0	RNF8	37444268	1.000000	0.71417	0.970000	0.41538	0.542000	0.35054	5.192000	0.65115	1.484000	0.48361	0.655000	0.94253	CGT		0.423	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			3	139	0	0	0	1	0	3	139				
USP50	373509	broad.mit.edu	37	15	50833426	50833426	+	Silent	SNP	T	T	C			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr15:50833426T>C	ENST00000532404.1	-	4	653	c.480A>G	c.(478-480)ggA>ggG	p.G160G	USP50_ENST00000530218.1_Intron	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	165	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		TCTGAGTAGATCCTTTCTCAT	0.393																																						ENST00000532404.1																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13						c.(478-480)ggA>ggG		ubiquitin specific peptidase 50							111.0	106.0	107.0					15																	50833426		1916	4123	6039	SO:0001819	synonymous_variant	373509				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr15:50833426T>C	AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236		"""Ubiquitin-specific peptidases"""	20079	protein-coding gene	gene with protein product			"""ubiquitin specific protease 50"""			12838346	Standard	NM_203494		Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.480A>G	15.37:g.50833426T>C						USP50_ENST00000530218.1_Intron	p.G160G	NM_203494.4	NP_987090.2	E9PP86	E9PP86_HUMAN		all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)	4	653	-			160					E9PP86	Silent	SNP	ENST00000532404.1	37	c.480A>G	CCDS53944.1																																																																																				0.393	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395249.1			3	75	0	0	0	1	0	3	75				
TMPRSS2	7113	broad.mit.edu	37	21	42843813	42843813	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr21:42843813A>T	ENST00000332149.5	-	10	1129	c.995T>A	c.(994-996)aTt>aAt	p.I332N	TMPRSS2_ENST00000398585.3_Missense_Mutation_p.I369N|TMPRSS2_ENST00000458356.1_Missense_Mutation_p.I332N	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	332	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TGGATGAGAAATCACTTTTTC	0.458			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																	ENST00000398585.3				Dom	yes		21	21q22.3	7113	T	"""transmembrane protease, serine 2"""			E	"""ERG, ETV1, ETV4, ETV5"""		prostate	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	0				central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1105-1107)aTt>aAt		transmembrane protease, serine 2							167.0	155.0	159.0					21																	42843813		2202	4299	6501	SO:0001583	missense	0				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42843813A>T	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.995T>A	21.37:g.42843813A>T	ENSP00000330330:p.Ile332Asn					TMPRSS2_ENST00000458356.1_Missense_Mutation_p.I332N|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.I332N	p.I369N	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN			10	1166	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	332			Peptidase S1.		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Missense_Mutation	SNP	ENST00000332149.5	37	c.1106T>A	CCDS33564.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.835637	0.50951	.	.	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499	D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69	5.29	5.29	0.74685	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000002	D	0.95865	0.8654	M	0.89904	3.07	0.49915	D	0.99983	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.96543	0.9402	10	0.87932	D	0	.	13.198	0.59749	1.0:0.0:0.0:0.0	.	369;332	F8WES1;O15393	.;TMPS2_HUMAN	N	332;369;332;332	ENSP00000330330:I332N;ENSP00000381588:I369N;ENSP00000391216:I332N;ENSP00000389006:I332N	ENSP00000330330:I332N	I	-	2	0	TMPRSS2	41765683	1.000000	0.71417	0.223000	0.23860	0.119000	0.20118	7.852000	0.86927	1.998000	0.58463	0.533000	0.62120	ATT		0.458	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			3	56	0	0	0	1	0	3	56				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	37	0	0	0	1	0	3	37				
RP1L1	94137	broad.mit.edu	37	8	10480104	10480104	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr8:10480104T>C	ENST00000382483.3	-	2	831	c.608A>G	c.(607-609)aAg>aGg	p.K203R	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	203	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACAGCCTACCTTTTTCCCGCT	0.483																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.e2+1		retinitis pigmentosa 1-like 1							153.0	142.0	145.0					8																	10480104		1893	4128	6021	SO:0001630	splice_region_variant	94137				intracellular signal transduction			g.chr8:10480104T>C	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.609+1A>G	8.37:g.10480104T>C						RP1L1_ENST00000329335.3_5'UTR	p.K203_splice	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	831	-			203					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Splice_Site	SNP	ENST00000382483.3	37	c.609_splice	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.482561	0.44147	.	.	ENSG00000183638	ENST00000382483	D	0.92099	-2.97	4.71	3.55	0.40652	.	0.000000	0.35067	U	0.003476	D	0.88112	0.6349	N	0.16743	0.435	0.35642	D	0.811082	P	0.48089	0.905	P	0.55667	0.781	D	0.86089	0.1549	10	0.24483	T	0.36	-30.1634	7.1436	0.25570	0.0:0.1744:0.0:0.8256	.	203	A6NKC6	.	R	203	ENSP00000371923:K203R	ENSP00000371923:K203R	K	-	2	0	RP1L1	10517514	1.000000	0.71417	0.968000	0.41197	0.198000	0.23893	2.415000	0.44635	0.834000	0.34852	0.459000	0.35465	AAG		0.483	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		Missense_Mutation	3	175	0	0	0	1	0	3	175				
PPFIA3	8541	broad.mit.edu	37	19	49646094	49646094	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr19:49646094G>A	ENST00000334186.4	+	21	2927	c.2578G>A	c.(2578-2580)Gcc>Acc	p.A860T	PPFIA3_ENST00000602351.1_Missense_Mutation_p.A860T	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	860	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GTATGTGGCCGCCTGCCGGGC	0.627																																						ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(2578-2580)Gcc>Acc		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							77.0	70.0	72.0					19																	49646094		2203	4300	6503	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49646094G>A	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2578G>A	19.37:g.49646094G>A	ENSP00000335614:p.Ala860Thr					PPFIA3_ENST00000602351.1_Missense_Mutation_p.A860T	p.A860T	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	21	2927	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	860			SAM 1.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.2578G>A	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148319	0.94603	.	.	ENSG00000177380	ENST00000334186	T	0.47869	0.83	4.45	3.38	0.38709	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.275037	0.23616	N	0.046294	T	0.56156	0.1966	L	0.54323	1.7	0.80722	D	1	D;D	0.71674	0.978;0.998	P;P	0.56088	0.467;0.791	T	0.60541	-0.7243	10	0.87932	D	0	-5.4954	12.8556	0.57884	0.0:0.0:0.8347:0.1653	.	860;860	O75145-2;O75145	.;LIPA3_HUMAN	T	860	ENSP00000335614:A860T	ENSP00000335614:A860T	A	+	1	0	PPFIA3	54337906	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	7.956000	0.87863	0.968000	0.38212	0.449000	0.29647	GCC		0.627	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		3	159	0	0	0	1	0	3	159				
OR2M3	127062	broad.mit.edu	37	1	248366998	248366998	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr1:248366998C>T	ENST00000456743.1	+	1	667	c.629C>T	c.(628-630)cCt>cTt	p.P210L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTGTTTTCCCTGTTGCAATC	0.418																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(628-630)cCt>cTt		olfactory receptor, family 2, subfamily M, member 3							284.0	278.0	280.0					1																	248366998		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366998C>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.629C>T	1.37:g.248366998C>T	ENSP00000389625:p.Pro210Leu						p.P210L	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	667	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		210					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.629C>T	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	c	13.55	2.272162	0.40194	.	.	ENSG00000228198	ENST00000456743	T	0.56103	0.48	2.43	2.43	0.29744	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31949	U	0.006810	T	0.70885	0.3275	M	0.87547	2.89	0.09310	N	1	D	0.67145	0.996	D	0.79108	0.992	T	0.59710	-0.7403	10	0.87932	D	0	.	7.93	0.29897	0.0:0.6411:0.3589:0.0	.	210	Q8NG83	OR2M3_HUMAN	L	210	ENSP00000389625:P210L	ENSP00000389625:P210L	P	+	2	0	OR2M3	246433621	0.000000	0.05858	0.008000	0.14137	0.031000	0.12232	0.863000	0.27913	1.356000	0.45884	0.398000	0.26397	CCT		0.418	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		49	351	0	0	0	1	0	49	351				
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs62538181|rs200215881		TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433																																						ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(3739-3741)atG>atC		contactin associated protein-like 3B																																				SO:0001583	missense	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43915893G>C	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.3741G>C	9.37:g.43915893G>C	ENSP00000366787:p.Met1247Ile						p.M1247I	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			23	4134	+			1247					B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	ENST00000377564.3	37	c.3741G>C	CCDS55312.1	.	.	.	.	.	.	.	.	.	.	C	1.267	-0.614036	0.03690	.	.	ENSG00000154529	ENST00000377564;ENST00000377555	T	0.23552	1.9	2.87	-2.82	0.05787	.	.	.	.	.	T	0.03053	0.0090	N	0.00018	-2.82	0.09310	P	0.9999999999977237	B	0.02656	0.0	B	0.01281	0.0	T	0.44267	-0.9339	8	0.11794	T	0.64	.	7.2283	0.26028	0.0:0.1691:0.1448:0.6861	.	161	E9PBG0	.	I	1247;161	ENSP00000366787:M1247I	ENSP00000366778:M161I	M	+	3	0	CNTNAP3B	43855889	0.990000	0.36364	0.901000	0.35422	0.347000	0.29111	0.022000	0.13511	-1.052000	0.03222	-2.091000	0.00372	ATG		0.433	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			2	22	0	0	0	1	0	2	22				
WDR83	84292	broad.mit.edu	37	19	12780686	12780686	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr19:12780686G>A	ENST00000418543.3	+	3	431	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000222190.5_5'Flank|WDR83_ENST00000242796.4_Missense_Mutation_p.V28M|CTD-2192J16.24_ENST00000597961.1_5'Flank|WDR83OS_ENST00000596731.1_5'UTR	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	28					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						GCAGGGGGCAGTGCGAGCCGT	0.637																																						ENST00000418543.3																			0				breast(2)|large_intestine(1)|lung(1)	4						c.(82-84)Gtg>Atg		WD repeat domain 83							56.0	67.0	63.0					19																	12780686		2202	4300	6502	SO:0001583	missense	84292				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm		g.chr19:12780686G>A	AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"""WD repeat domain containing"""	32672	protein-coding gene	gene with protein product	"""MAPK organizer 1"""					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.82G>A	19.37:g.12780686G>A	ENSP00000402653:p.Val28Met					WDR83_ENST00000242796.4_Missense_Mutation_p.V28M|WDR83OS_ENST00000596731.1_5'UTR	p.V28M	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN			3	431	+			28					B2RAF1|Q53FT6	Missense_Mutation	SNP	ENST00000418543.3	37	c.82G>A	CCDS12275.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813952	0.90790	.	.	ENSG00000123154	ENST00000418543;ENST00000242796	T;T	0.73897	-0.79;-0.79	4.99	4.99	0.66335	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.053141	0.64402	D	0.000001	D	0.88362	0.6416	M	0.90705	3.14	0.58432	D	0.999999	D	0.69078	0.997	D	0.67900	0.954	D	0.90581	0.4529	10	0.87932	D	0	.	17.9165	0.88953	0.0:0.0:1.0:0.0	.	28	Q9BRX9	WDR83_HUMAN	M	28	ENSP00000402653:V28M;ENSP00000242796:V28M	ENSP00000242796:V28M	V	+	1	0	WDR83	12641686	1.000000	0.71417	0.988000	0.46212	0.942000	0.58702	6.127000	0.71642	2.709000	0.92574	0.655000	0.94253	GTG		0.637	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1	NM_032332		3	137	0	0	0	1	0	3	137				
SSBP4	170463	broad.mit.edu	37	19	18543390	18543390	+	Silent	SNP	G	G	A	rs368585392		TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr19:18543390G>A	ENST00000270061.7	+	11	1020	c.726G>A	c.(724-726)ccG>ccA	p.P242P	SSBP4_ENST00000599699.2_5'Flank|SSBP4_ENST00000348495.6_Silent_p.P220P	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	242	Pro-rich.					nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						TTCGTGGCCCGTGGGCCAGCC	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11400	0.0		0.0	False		,,,				2504	0.0					ENST00000270061.6																			0				endometrium(2)|kidney(1)|skin(1)	4						c.(724-726)ccG>ccA		single stranded DNA binding protein 4		G	,	2,4404	4.2+/-10.8	0,2,2201	42.0	48.0	46.0		660,726	-8.0	0.1	19		46	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SSBP4	NM_001009998.3,NM_032627.4	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	220/364,242/386	18543390	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	170463					nucleus	single-stranded DNA binding	g.chr19:18543390G>A		CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.726G>A	19.37:g.18543390G>A						SSBP4_ENST00000348495.5_Silent_p.P220P	p.P242P	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN			11	946	+			242			Pro-rich.		Q9BWW5	Silent	SNP	ENST00000270061.7	37	c.726G>A	CCDS12378.1																																																																																				0.667	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466348.3	NM_032627		3	116	0	0	0	1	0	3	116				
TRPM4	54795	broad.mit.edu	37	19	49671826	49671826	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr19:49671826G>A	ENST00000252826.5	+	6	755	c.629G>A	c.(628-630)aGg>aAg	p.R210K	TRPM4_ENST00000427978.2_Missense_Mutation_p.R210K|TRPM4_ENST00000355712.5_5'UTR	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	210					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TTCCCTGCGAGGTACCGGTGG	0.647																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(628-630)aGg>aAg		transient receptor potential cation channel, subfamily M, member 4							52.0	50.0	51.0					19																	49671826		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49671826G>A	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.629G>A	19.37:g.49671826G>A	ENSP00000252826:p.Arg210Lys					TRPM4_ENST00000427978.2_Missense_Mutation_p.R210K|TRPM4_ENST00000355712.5_5'UTR	p.R210K	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	6	755	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	210					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.629G>A	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	3.030	-0.199895	0.06219	.	.	ENSG00000130529	ENST00000252826;ENST00000427978	T;T	0.59906	0.23;0.23	5.06	-2.13	0.07144	.	0.381469	0.25932	N	0.027361	T	0.25457	0.0619	N	0.12182	0.205	0.09310	N	0.999995	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.09377	0.004;0.004;0.001	T	0.28713	-1.0035	10	0.02654	T	1	-11.9865	5.5276	0.16967	0.382:0.1339:0.4841:0.0	.	36;210;210	Q8TD43-2;Q8TD43-3;Q8TD43	.;.;TRPM4_HUMAN	K	210	ENSP00000252826:R210K;ENSP00000407492:R210K	ENSP00000252826:R210K	R	+	2	0	TRPM4	54363638	0.004000	0.15560	0.002000	0.10522	0.001000	0.01503	0.407000	0.21049	-0.176000	0.10707	-1.371000	0.01190	AGG		0.647	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		3	94	0	0	0	1	0	3	94				
TRIM51HP	440041	broad.mit.edu	37	11	55064991	55064991	+	RNA	SNP	G	G	T			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr11:55064991G>T	ENST00000526016.1	-	0	434					NR_038174.2				tripartite motif-containing 51H, pseudogene																		CCATGTTCAGGTTTCTGAGAT	0.403																																						ENST00000526016.1																			0																																																			0							g.chr11:55064991G>T			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55064991G>T								NR_038174.2						0	434	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.403	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			3	31	1	0	0.184627	1	0.190058	3	31				
MORC1	27136	broad.mit.edu	37	3	108819312	108819312	+	Missense_Mutation	SNP	C	C	T	rs374215295		TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr3:108819312C>T	ENST00000483760.1	-	5	309	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	MORC1-AS1_ENST00000480826.1_RNA|MORC1_ENST00000232603.5_Missense_Mutation_p.R89Q					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GGTTGACAGCCGTTTTTTGGA	0.398																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(265-267)cGg>cAg		MORC family CW-type zinc finger 1		C	GLN/ARG	0,4406		0,0,2203	184.0	184.0	184.0		266	3.5	0.7	3		184	1,8599	1.2+/-3.3	0,1,4299	no	missense	MORC1	NM_014429.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	89/985	108819312	1,13005	2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108819312C>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.266G>A	3.37:g.108819312C>T	ENSP00000417282:p.Arg89Gln					MORC1_ENST00000483760.1_Missense_Mutation_p.R89Q	p.R89Q	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			5	348	-			89						Missense_Mutation	SNP	ENST00000483760.1	37	c.266G>A		.	.	.	.	.	.	.	.	.	.	C	19.29	3.798725	0.70567	0.0	1.16E-4	ENSG00000114487	ENST00000232603;ENST00000483760	D;D	0.95035	-3.59;-3.59	5.32	3.53	0.40419	ATPase-like, ATP-binding domain (3);	0.312347	0.23631	N	0.046123	D	0.91078	0.7192	L	0.58669	1.825	0.29851	N	0.828413	P;B	0.40731	0.728;0.354	B;B	0.38156	0.266;0.219	D	0.86061	0.1532	10	0.35671	T	0.21	-3.4591	8.1909	0.31368	0.1574:0.7605:0.0:0.0821	.	89;89	E7ERX1;Q86VD1	.;MORC1_HUMAN	Q	89	ENSP00000232603:R89Q;ENSP00000417282:R89Q	ENSP00000232603:R89Q	R	-	2	0	MORC1	110302002	0.965000	0.33210	0.689000	0.30133	0.944000	0.59088	2.212000	0.42835	0.815000	0.34398	0.655000	0.94253	CGG		0.398	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			3	147	0	0	0	1	0	3	147				
OR2T4	127074	broad.mit.edu	37	1	248524908	248524908	+	Missense_Mutation	SNP	G	G	A	rs140989725		TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr1:248524908G>A	ENST00000366475.1	+	1	26	c.26G>A	c.(25-27)aGc>aAc	p.S9N		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGATGGCCAGCCACACTGGA	0.483																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(25-27)aGc>aAc		olfactory receptor, family 2, subfamily T, member 4							78.0	74.0	76.0					1																	248524908		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248524908G>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.26G>A	1.37:g.248524908G>A	ENSP00000355431:p.Ser9Asn						p.S9N	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	26	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		9					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.26G>A	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.037779	0.00402	.	.	ENSG00000196944	ENST00000366475	T	0.01821	4.62	1.77	-1.13	0.09775	.	.	.	.	.	T	0.00815	0.0027	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47156	-0.9139	9	0.05351	T	0.99	.	4.3443	0.11126	0.6047:0.0:0.3953:0.0	.	9	Q8NH00	OR2T4_HUMAN	N	9	ENSP00000355431:S9N	ENSP00000355431:S9N	S	+	2	0	OR2T4	246591531	0.000000	0.05858	0.009000	0.14445	0.059000	0.15707	-0.336000	0.07863	-0.221000	0.09973	-0.745000	0.03516	AGC		0.483	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		3	70	0	0	0	1	0	3	70				
OR4K14	122740	broad.mit.edu	37	14	20482441	20482441	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr14:20482441G>C	ENST00000305045.2	-	1	911	c.912C>G	c.(910-912)aaC>aaG	p.N304K		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCACCCGTCGGTTTTGCAGTT	0.358																																						ENST00000305045.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37						c.(910-912)aaC>aaG		olfactory receptor, family 4, subfamily K, member 14							103.0	106.0	105.0					14																	20482441		2203	4300	6503	SO:0001583	missense	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20482441G>C		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.912C>G	14.37:g.20482441G>C	ENSP00000305011:p.Asn304Lys						p.N304K	NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	911	-	all_cancers(95;0.00108)		304					Q6IEU1|Q96R71	Missense_Mutation	SNP	ENST00000305045.2	37	c.912C>G	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	5.095	0.203149	0.09704	.	.	ENSG00000169484	ENST00000305045	T	0.35048	1.33	4.01	-1.63	0.08345	.	0.740232	0.11429	N	0.565010	T	0.10723	0.0262	N	0.03050	-0.425	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.29488	-1.0010	10	0.07813	T	0.8	.	3.5422	0.07815	0.2973:0.0:0.2263:0.4764	.	304	Q8NGD5	OR4KE_HUMAN	K	304	ENSP00000305011:N304K	ENSP00000305011:N304K	N	-	3	2	OR4K14	19552281	0.825000	0.29262	0.001000	0.08648	0.165000	0.22458	0.327000	0.19663	-0.630000	0.05567	0.505000	0.49811	AAC		0.358	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			5	142	0	0	0	1	0	5	142				
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																						ENST00000435989.2																			2	Substitution - coding silent(2)	p.S332S(2)	kidney(2)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(994-996)tcG>tcC		zinc finger protein 814							25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385762C>G		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G						ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	p.S332S	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1230	-			332					A6NF35	Silent	SNP	ENST00000435989.2	37	c.996G>C	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		4	3	0	0	0	1	0	4	3				
MARCKSL1	65108	broad.mit.edu	37	1	32800539	32800540	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr1:32800539_32800540insG	ENST00000329421.7	-	2	591_592	c.246_247insC	c.(244-249)cccaagfs	p.K83fs		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	83					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.K83fs*33(2)		breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGGGTCTCCTTGGGGGGGACCT	0.589																																						ENST00000329421.7																			2	Insertion - Frameshift(2)	p.K83fs*33(2)	large_intestine(2)	breast(1)|large_intestine(3)|lung(1)|ovary(1)	6						c.(244-249)ccaggafs		MARCKS-like 1																																				SO:0001589	frameshift_variant	65108					plasma membrane	calmodulin binding	g.chr1:32800539_32800540insG	AF031640	CCDS361.1	1p35.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000175130	ENSG00000175130			7142	protein-coding gene	gene with protein product		602940	"""MARCKS-like protein"""	MLP		9598313	Standard	NM_023009		Approved	F52, MacMARCKS, MLP1	uc001bvd.4	P49006	OTTHUMG00000007589	ENST00000329421.7:c.247dupC	1.37:g.32800546_32800546dupG	ENSP00000362638:p.Lys83fs						p.G83fs	NM_023009.6	NP_075385.1	P49006	MRP_HUMAN			2	591_592	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	83					D3DPQ0|Q5TEE6|Q6NXS5	Frame_Shift_Ins	INS	ENST00000329421.7	37	c.246_247insC	CCDS361.1																																																																																				0.589	MARCKSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020059.3	NM_023009		12	55						12	55	---	---	---	---
PBXIP1	57326	broad.mit.edu	37	1	154917508	154917510	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr1:154917508_154917510delGGT	ENST00000368463.3	-	11	2257_2259	c.2186_2188delACC	c.(2185-2190)caccgg>cgg	p.H729del	PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000542459.1_In_Frame_Del_p.H574del|PBXIP1_ENST00000539880.1_In_Frame_Del_p.H556del|PBXIP1_ENST00000368465.1_In_Frame_Del_p.H700del	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	729	His-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTCAGCCCCGGTGGTGGTGGTG	0.64																																						ENST00000368463.3																			0				breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(2185-2190)cgg>c		pre-B-cell leukemia homeobox interacting protein 1				1,4265		0,1,2132						1.1	0.6			98	7,8247		1,5,4121	no	coding	PBXIP1	NM_020524.2		1,6,6253	A1A1,A1R,RR		0.0848,0.0234,0.0639				8,12512				SO:0001651	inframe_deletion	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154917508_154917510delGGT	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.2186_2188delACC	1.37:g.154917517_154917519delGGT	ENSP00000357448:p.His729del					PBXIP1_ENST00000539880.1_In_Frame_Del_p.HR556del|PBXIP1_ENST00000368465.1_In_Frame_Del_p.HR700del|PBXIP1_ENST00000542459.1_In_Frame_Del_p.HR574del	p.HR729del	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		11	2257_2259	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		729			His-rich.		Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	In_Frame_Del	DEL	ENST00000368463.3	37	c.2186_2188delACC	CCDS1074.1																																																																																				0.640	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		7	140						7	140	---	---	---	---
LINC01250	101927554	broad.mit.edu	37	2	2910378	2910379	+	lincRNA	INS	-	-	C	rs72051156	byFrequency	TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr2:2910378_2910379insC	ENST00000457478.1	-	0	594																											ACAGCCGCCCACCCTACACCTT	0.639													CCC|CCC|CCCC|insertion	2749	0.548922	0.1778	0.6657	5008	,	,		8371	0.6825		0.6809	False		,,,				2504	0.6943					ENST00000457478.1																			0																																																			0							g.chr2:2910378_2910379insC																													2.37:g.2910381_2910381dupC														0	594	-									RNA	INS	ENST00000457478.1	37																																																																																						0.639	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			4	2						4	2	---	---	---	---
RRH	10692	broad.mit.edu	37	4	110756541	110756541	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr4:110756541delT	ENST00000317735.4	+	3	351	c.317delT	c.(316-318)attfs	p.I106fs		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	106					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GGATTGAATATTTTTTTTGGA	0.393																																						ENST00000317735.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12						c.(316-318)atfs		retinal pigment epithelium-derived rhodopsin homolog				67,4199		33,1,2099	139.0	134.0	136.0			5.7	1.0	4		136	92,8162		44,4,4079	no	frameshift	RRH	NM_006583.2		77,5,6178	A1A1,A1R,RR		1.1146,1.5706,1.27			110756541	159,12361	2203	4300	6503	SO:0001589	frameshift_variant	10692				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr4:110756541delT	AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.317delT	4.37:g.110756541delT	ENSP00000314992:p.Ile106fs						p.I106fs	NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00109)	3	351	+		Hepatocellular(203;0.217)	106					A1A4V2|Q7RTS4	Frame_Shift_Del	DEL	ENST00000317735.4	37	c.317delT	CCDS3687.1																																																																																				0.393	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255066.1	NM_006583		8	96						8	96	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085495	11085497	+	RNA	DEL	AAA	AAA	-	rs79040424|rs201581501		TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr21:11085495_11085497delAAA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccactaaaaccacgacca	0.567																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085495_11085497delAAA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085495_11085497delAAA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.567	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	6						3	6	---	---	---	---
