#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
TOMM40	10452	broad.mit.edu	37	19	45406290	45406290	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr19:45406290C>T	ENST00000426677.2	+	9	1130	c.950C>T	c.(949-951)tCt>tTt	p.S317F	TOMM40_ENST00000592434.1_3'UTR|TOMM40_ENST00000405636.2_Missense_Mutation_p.S317F|APOE_ENST00000252486.4_5'Flank|TOMM40_ENST00000252487.5_Missense_Mutation_p.S317F	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	317					cellular protein metabolic process (GO:0044267)|ion transport (GO:0006811)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane translocase complex (GO:0005742)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein transmembrane transporter activity (GO:0008320)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		CCTGCAGGCTCTGTGGATAGC	0.602																																						ENST00000426677.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						c.(949-951)tCt>tTt		translocase of outer mitochondrial membrane 40 homolog (yeast)							56.0	55.0	56.0					19																	45406290		2203	4300	6503	SO:0001583	missense	10452				protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity	g.chr19:45406290C>T	AF043250	CCDS12646.1	19q13	2008-07-04				ENSG00000130204			18001	protein-coding gene	gene with protein product		608061				10980201, 15644312	Standard	NM_006114		Approved	PEREC1, D19S1177E, C19orf1, TOM40, PER-EC1	uc002paa.4	O96008		ENST00000426677.2:c.950C>T	19.37:g.45406290C>T	ENSP00000410339:p.Ser317Phe					TOMM40_ENST00000252487.5_Missense_Mutation_p.S317F|TOMM40_ENST00000592434.1_3'UTR|TOMM40_ENST00000405636.2_Missense_Mutation_p.S317F	p.S317F	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)	9	1130	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)		317					Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95	Missense_Mutation	SNP	ENST00000426677.2	37	c.950C>T	CCDS12646.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144185	0.37825	.	.	ENSG00000130204	ENST00000426677;ENST00000405636;ENST00000252487	T;T;T	0.46063	0.88;0.88;0.88	4.64	3.61	0.41365	.	0.148569	0.46758	D	0.000273	T	0.46425	0.1392	M	0.73217	2.22	0.52099	D	0.999946	P	0.38395	0.629	B	0.43194	0.411	T	0.43750	-0.9372	10	0.46703	T	0.11	-17.4838	10.4894	0.44741	0.0:0.9035:0.0:0.0965	.	317	O96008	TOM40_HUMAN	F	317	ENSP00000410339:S317F;ENSP00000385184:S317F;ENSP00000252487:S317F	ENSP00000252487:S317F	S	+	2	0	TOMM40	50098130	0.962000	0.33011	0.928000	0.36995	0.840000	0.47671	3.736000	0.55052	0.941000	0.37499	0.561000	0.74099	TCT		0.602	TOMM40-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453241.1			10	63	0	0	0	1	0	10	63				
PRKAA2	5563	broad.mit.edu	37	1	57161755	57161755	+	Silent	SNP	C	C	G			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:57161755C>G	ENST00000371244.4	+	6	777	c.711C>G	c.(709-711)ctC>ctG	p.L237L		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	CAGAATATCTCAATCGTTCTG	0.423																																						ENST00000371244.4																			0				breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(709-711)ctC>ctG		protein kinase, AMP-activated, alpha 2 catalytic subunit							256.0	256.0	256.0					1																	57161755		2203	4300	6503	SO:0001819	synonymous_variant	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57161755C>G	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.711C>G	1.37:g.57161755C>G							p.L237L	NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			6	777	+			237			Protein kinase.		Q9H1E8|Q9UD43	Silent	SNP	ENST00000371244.4	37	c.711C>G	CCDS605.1																																																																																				0.423	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		75	463	0	0	0	1	0	75	463				
KIAA1755	85449	broad.mit.edu	37	20	36870321	36870321	+	Nonsense_Mutation	SNP	G	G	C			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr20:36870321G>C	ENST00000279024.4	-	3	483	c.212C>G	c.(211-213)tCa>tGa	p.S71*		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	71										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GAGGCAGTGTGAGTAGGGAGC	0.572																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(211-213)tCa>tGa		KIAA1755							47.0	46.0	47.0					20																	36870321		2186	4269	6455	SO:0001587	stop_gained	85449							g.chr20:36870321G>C	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.212C>G	20.37:g.36870321G>C	ENSP00000279024:p.Ser71*						p.S71*	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			3	483	-		Myeloproliferative disorder(115;0.00874)	71					Q9C0A8	Nonsense_Mutation	SNP	ENST00000279024.4	37	c.212C>G	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498662	0.85069	.	.	ENSG00000149633	ENST00000279024	.	.	.	5.59	3.54	0.40534	.	0.560190	0.14928	N	0.290259	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	3.3724	0.07225	0.1529:0.1359:0.5712:0.14	.	.	.	.	X	71	.	ENSP00000279024:S71X	S	-	2	0	KIAA1755	36303735	0.977000	0.34250	0.009000	0.14445	0.314000	0.28054	3.688000	0.54699	1.362000	0.46000	0.561000	0.74099	TCA		0.572	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		10	100	0	0	0	1	0	10	100				
PTER	9317	broad.mit.edu	37	10	16553183	16553183	+	Silent	SNP	G	G	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr10:16553183G>A	ENST00000378000.1	+	6	1224	c.978G>A	c.(976-978)ctG>ctA	p.L326L	PTER_ENST00000298942.3_Silent_p.L326L|PTER_ENST00000423462.2_Silent_p.L279L|PTER_ENST00000535784.2_Silent_p.L326L	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	326					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						AAATGTTGCTGAGAGGCATAA	0.393																																					Ovarian(2;46 150 15648 38137 47908)	ENST00000378000.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						c.(976-978)ctG>ctA		phosphotriesterase related							168.0	160.0	163.0					10																	16553183		2203	4300	6503	SO:0001819	synonymous_variant	9317				catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding	g.chr10:16553183G>A	BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.978G>A	10.37:g.16553183G>A						PTER_ENST00000298942.3_Silent_p.L326L|PTER_ENST00000535784.2_Silent_p.L326L|PTER_ENST00000423462.2_Silent_p.L279L	p.L326L	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN			6	1224	+			326					B0YJ77|B3KTF5|D3DRU0|Q9BY46	Silent	SNP	ENST00000378000.1	37	c.978G>A	CCDS7111.1																																																																																				0.393	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664		19	120	0	0	0	1	0	19	120				
KDM2B	84678	broad.mit.edu	37	12	121947596	121947596	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr12:121947596G>A	ENST00000377071.4	-	11	1493	c.1421C>T	c.(1420-1422)tCt>tTt	p.S474F	KDM2B_ENST00000536437.1_Missense_Mutation_p.S357F|KDM2B_ENST00000377069.4_Missense_Mutation_p.S443F|KDM2B_ENST00000538046.2_Missense_Mutation_p.S384F|KDM2B_ENST00000542973.1_5'Flank	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	474					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CGACTCATTAGACAAAGTCCT	0.597																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1327-1329)tCt>tTt		lysine (K)-specific demethylase 2B							90.0	102.0	98.0					12																	121947596		2000	4148	6148	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121947596G>A	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1421C>T	12.37:g.121947596G>A	ENSP00000366271:p.Ser474Phe					KDM2B_ENST00000538046.2_Missense_Mutation_p.S384F|KDM2B_ENST00000536437.1_Missense_Mutation_p.S357F|KDM2B_ENST00000377071.4_Missense_Mutation_p.S474F	p.S443F	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			11	1734	-			474					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.1328C>T	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251473	0.80135	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000261824;ENST00000446152	T;T;T;T	0.50001	2.37;1.76;0.76;0.78	4.96	4.96	0.65561	.	0.000000	0.53938	D	0.000060	T	0.67050	0.2852	M	0.66939	2.045	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.99;0.994;0.994	D;P;P;P	0.66196	0.942;0.797;0.855;0.855	T	0.71056	-0.4703	10	0.87932	D	0	-12.8216	18.6041	0.91261	0.0:0.0:1.0:0.0	.	474;357;474;443	E7EML5;Q1RLM7;Q8NHM5;A8MRS1	.;.;KDM2B_HUMAN;.	F	474;443;474;357;474;474;437	ENSP00000366269:S443F;ENSP00000366271:S474F;ENSP00000445196:S357F;ENSP00000398279:S437F	ENSP00000261824:S474F	S	-	2	0	KDM2B	120431979	1.000000	0.71417	0.946000	0.38457	0.596000	0.36781	8.979000	0.93455	2.476000	0.83614	0.655000	0.94253	TCT		0.597	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		11	97	0	0	0	1	0	11	97				
KIAA1755	85449	broad.mit.edu	37	20	36869562	36869562	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr20:36869562G>A	ENST00000279024.4	-	3	1242	c.971C>T	c.(970-972)tCa>tTa	p.S324L		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	324										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				ATTGGCCTCTGAGAGAGGCAG	0.498																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(970-972)tCa>tTa		KIAA1755							145.0	158.0	154.0					20																	36869562		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36869562G>A	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.971C>T	20.37:g.36869562G>A	ENSP00000279024:p.Ser324Leu						p.S324L	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			3	1242	-		Myeloproliferative disorder(115;0.00874)	324					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.971C>T	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407407	0.62399	.	.	ENSG00000149633	ENST00000279024	T	0.59906	0.23	5.23	3.25	0.37280	.	0.376453	0.19557	N	0.111410	T	0.52108	0.1714	M	0.69823	2.125	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.48375	-0.9041	10	0.44086	T	0.13	.	6.2909	0.21059	0.0922:0.0:0.7255:0.1822	.	324	Q5JYT7	K1755_HUMAN	L	324	ENSP00000279024:S324L	ENSP00000279024:S324L	S	-	2	0	KIAA1755	36302976	0.527000	0.26306	0.001000	0.08648	0.065000	0.16274	4.494000	0.60347	0.748000	0.32831	0.655000	0.94253	TCA		0.498	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		26	285	0	0	0	1	0	26	285				
STIL	6491	broad.mit.edu	37	1	47746154	47746154	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:47746154G>A	ENST00000360380.3	-	13	2339	c.1976C>T	c.(1975-1977)tCa>tTa	p.S659L	STIL_ENST00000337817.5_Missense_Mutation_p.S659L|STIL_ENST00000371877.3_Missense_Mutation_p.S659L|STIL_ENST00000243182.6_Missense_Mutation_p.S659L|STIL_ENST00000396221.2_Missense_Mutation_p.S659L	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	659	PIN1-binding. {ECO:0000250}.				cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.S659L(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				AGGACTACTTGAAGAACAGAA	0.468																																						ENST00000360380.3																			1	Substitution - Missense(1)	p.S659L(1)	lung(1)	central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(1975-1977)tCa>tTa		SCL/TAL1 interrupting locus							148.0	136.0	140.0					1																	47746154		2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47746154G>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1976C>T	1.37:g.47746154G>A	ENSP00000353544:p.Ser659Leu					STIL_ENST00000337817.5_Missense_Mutation_p.S659L|STIL_ENST00000243182.6_Missense_Mutation_p.S659L|STIL_ENST00000396221.2_Missense_Mutation_p.S659L|STIL_ENST00000371877.3_Missense_Mutation_p.S659L	p.S659L			Q15468	STIL_HUMAN			13	2339	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	659			PIN1-binding (By similarity).		Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.1976C>T	CCDS548.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132647	0.77662	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.49720	2.13;2.13;2.13;2.11;2.13;0.77	4.79	4.79	0.61399	.	0.558491	0.18922	N	0.127460	T	0.49321	0.1550	L	0.29908	0.895	0.43462	D	0.99566	D;D;D;D;D	0.56287	0.975;0.975;0.975;0.975;0.975	P;P;P;P;P	0.53146	0.719;0.719;0.719;0.719;0.719	T	0.44817	-0.9303	10	0.40728	T	0.16	-13.3678	16.2159	0.82217	0.0:0.0:1.0:0.0	.	659;612;659;659;659	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	L	659;659;659;659;659;612	ENSP00000353544:S659L;ENSP00000337367:S659L;ENSP00000360944:S659L;ENSP00000379523:S659L;ENSP00000243182:S659L;ENSP00000411664:S612L	ENSP00000243182:S659L	S	-	2	0	STIL	47518741	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.301000	0.59086	2.500000	0.84329	0.650000	0.86243	TCA		0.468	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		16	148	0	0	0	1	0	16	148				
SEZ6L	23544	broad.mit.edu	37	22	26695086	26695086	+	Silent	SNP	C	C	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr22:26695086C>T	ENST00000248933.6	+	5	1394	c.1299C>T	c.(1297-1299)tgC>tgT	p.C433C	SEZ6L_ENST00000343706.4_Silent_p.C433C|SEZ6L_ENST00000404234.3_Silent_p.C433C|SEZ6L_ENST00000360929.3_Silent_p.C433C|SEZ6L_ENST00000403121.1_Silent_p.C206C|SEZ6L_ENST00000402979.1_Silent_p.C206C|SEZ6L_ENST00000529632.2_Silent_p.C433C			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	433	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGCTGACATGCATCAATGCCT	0.597																																						ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(1297-1299)tgC>tgT		seizure related 6 homolog (mouse)-like							33.0	28.0	30.0					22																	26695086		2203	4300	6503	SO:0001819	synonymous_variant	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26695086C>T	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1299C>T	22.37:g.26695086C>T						SEZ6L_ENST00000343706.4_Silent_p.C433C|SEZ6L_ENST00000248933.6_Silent_p.C433C|SEZ6L_ENST00000360929.3_Silent_p.C433C|SEZ6L_ENST00000404234.3_Silent_p.C433C|SEZ6L_ENST00000402979.1_Silent_p.C206C|SEZ6L_ENST00000403121.1_Silent_p.C206C	p.C433C	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			5	1495	+			433			Sushi 1.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	37	c.1299C>T	CCDS13833.1																																																																																				0.597	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			4	36	0	0	0	1	0	4	36				
RBMS2	5939	broad.mit.edu	37	12	56963764	56963764	+	Missense_Mutation	SNP	A	A	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr12:56963764A>T	ENST00000262031.5	+	4	469	c.374A>T	c.(373-375)cAg>cTg	p.Q125L	RBMS2_ENST00000552247.2_Missense_Mutation_p.Q125L|RBMS2_ENST00000550726.1_5'UTR|RBMS2_ENST00000542360.1_5'UTR|RBMS2_ENST00000549945.1_3'UTR	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	125	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						GTACAGGCACAGATGGCAAAG	0.502																																						ENST00000262031.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(373-375)cAg>cTg		RNA binding motif, single stranded interacting protein 2							115.0	98.0	104.0					12																	56963764		2203	4300	6503	SO:0001583	missense	5939				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr12:56963764A>T	D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"""RNA binding motif (RRM) containing"""	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.374A>T	12.37:g.56963764A>T	ENSP00000262031:p.Gln125Leu					RBMS2_ENST00000549945.1_3'UTR|RBMS2_ENST00000550726.1_5'UTR|RBMS2_ENST00000552247.2_Missense_Mutation_p.Q125L|RBMS2_ENST00000542360.1_5'UTR	p.Q125L	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN			4	469	+			125			RRM 1.			Missense_Mutation	SNP	ENST00000262031.5	37	c.374A>T	CCDS8923.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.967263	0.92855	.	.	ENSG00000076067	ENST00000262031;ENST00000552247	T;T	0.73363	3.44;-0.74	5.37	5.37	0.77165	RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.71978	0.3404	L	0.59436	1.845	0.80722	D	1	B	0.11235	0.004	B	0.15052	0.012	T	0.70605	-0.4826	10	0.87932	D	0	.	14.6717	0.68948	1.0:0.0:0.0:0.0	.	125	Q15434	RBMS2_HUMAN	L	125	ENSP00000262031:Q125L;ENSP00000447426:Q125L	ENSP00000262031:Q125L	Q	+	2	0	RBMS2	55250031	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.745000	0.91600	2.175000	0.68902	0.528000	0.53228	CAG		0.502	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409366.2	NM_002898		4	106	0	0	0	1	0	4	106				
C5	727	broad.mit.edu	37	9	123725972	123725972	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr9:123725972G>A	ENST00000223642.1	-	34	4294	c.4265C>T	c.(4264-4266)gCg>gTg	p.A1422V		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1422					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	GTCCATCACCGCATGAGAGGA	0.358																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(4264-4266)gCg>gTg		complement component 5	Eculizumab(DB01257)						79.0	75.0	76.0					9																	123725972		2203	4300	6503	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123725972G>A	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4265C>T	9.37:g.123725972G>A	ENSP00000223642:p.Ala1422Val						p.A1422V	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	34	4294	-			1422					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.4265C>T	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844586	0.51164	.	.	ENSG00000106804	ENST00000223642	T	0.29142	1.58	5.33	4.43	0.53597	Alpha-macroglobulin, receptor-binding (3);	0.408843	0.29253	N	0.012695	T	0.24236	0.0587	L	0.42632	1.34	0.36848	D	0.887737	P	0.46784	0.884	B	0.38156	0.266	T	0.21484	-1.0244	10	0.54805	T	0.06	.	9.8198	0.40876	0.0945:0.0:0.9055:0.0	.	1422	P01031	CO5_HUMAN	V	1422	ENSP00000223642:A1422V	ENSP00000223642:A1422V	A	-	2	0	C5	122765793	0.999000	0.42202	0.997000	0.53966	0.994000	0.84299	3.301000	0.51842	1.254000	0.44035	0.655000	0.94253	GCG		0.358	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		4	148	0	0	0	1	0	4	148				
ZAN	7455	broad.mit.edu	37	7	100365499	100365499	+	RNA	SNP	C	C	T	rs545917447		TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr7:100365499C>T	ENST00000348028.3	+	0	5071				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1636W(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCACAAGGCCGGGTGACCAT	0.577																																						ENST00000542585.1																			2	Substitution - Missense(2)	p.R1636W(2)	breast(2)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100365499C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100365499C>T						ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5054	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	19.84	3.901866	0.72754	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	4.57	3.67	0.42095	von Willebrand factor, type D domain (3);	0.885934	0.09367	N	0.811871	T	0.76176	0.3951	M	0.87971	2.92	0.21719	N	0.999576	D;D	0.76494	0.999;0.999	P;P	0.60886	0.809;0.88	T	0.62205	-0.6903	10	0.87932	D	0	.	10.5823	0.45263	0.1935:0.8065:0.0:0.0	.	1636;1636	F5H0T8;Q9Y493	.;ZAN_HUMAN	W	1636;1636;1636;213	ENSP00000445943:R1636W;ENSP00000445091:R1636W;ENSP00000444427:R1636W;ENSP00000441117:R213W	ENSP00000423579:R1636W	R	+	1	2	ZAN	100203435	0.000000	0.05858	0.139000	0.22197	0.010000	0.07245	-0.021000	0.12504	1.208000	0.43306	0.655000	0.94253	CGG		0.577	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		6	32	0	0	0	1	0	6	32				
GOLGA7B	401647	broad.mit.edu	37	10	99623701	99623701	+	Silent	SNP	C	C	G			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr10:99623701C>G	ENST00000370602.1	+	3	218	c.153C>G	c.(151-153)ctC>ctG	p.L51L		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	51						Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|prostate(1)	5						AGCGGCAGCTCTTTGAAGAGA	0.602																																						ENST00000370602.1																			0				endometrium(1)|large_intestine(3)|prostate(1)	5						c.(151-153)ctC>ctG		golgin A7 family, member B							52.0	55.0	54.0					10																	99623701		2203	4300	6503	SO:0001819	synonymous_variant	401647					Golgi membrane		g.chr10:99623701C>G	BC008047	CCDS31265.1	10q24.2	2011-10-25	2010-02-12	2008-10-03	ENSG00000155265	ENSG00000155265			31668	protein-coding gene	gene with protein product		614189	"""chromosome 10 open reading frame 133"", ""chromosome 10 open reading frame 132"", ""golgi autoantigen, golgin subfamily a, 7B"""	C10orf133, C10orf132			Standard	NM_001010917		Approved	bA459F3.4, bA451M19.3	uc001kos.3	Q2TAP0	OTTHUMG00000018869	ENST00000370602.1:c.153C>G	10.37:g.99623701C>G							p.L51L	NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN			3	218	+			51					Q5T4F5	Silent	SNP	ENST00000370602.1	37	c.153C>G	CCDS31265.1																																																																																				0.602	GOLGA7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049752.1	NM_001010917		11	86	0	0	0	1	0	11	86				
FGF12	2257	broad.mit.edu	37	3	192125823	192125823	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr3:192125823G>A	ENST00000454309.2	-	1	1015	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	FGF12_ENST00000430714.1_Intron|FGF12_ENST00000450716.1_Intron|FGF12_ENST00000264730.3_Intron|FGF12_ENST00000445105.2_Intron	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	64					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		CCTGGTCTCCGCCTCACCGGC	0.667																																						ENST00000454309.2																			0				endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(190-192)Cgg>Tgg		fibroblast growth factor 12							69.0	80.0	77.0					3																	192125823		2169	4231	6400	SO:0001583	missense	2257				cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	g.chr3:192125823G>A	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.190C>T	3.37:g.192125823G>A	ENSP00000413496:p.Arg64Trp					FGF12_ENST00000430714.1_Intron|FGF12_ENST00000264730.3_Intron|FGF12_ENST00000450716.1_Intron|FGF12_ENST00000445105.1_Intron	p.R64W	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)	1	1015	-	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	64					B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Missense_Mutation	SNP	ENST00000454309.2	37	c.190C>T	CCDS3301.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656939	0.47467	.	.	ENSG00000114279	ENST00000454309	T	0.78924	-1.22	5.32	1.08	0.20341	.	0.000000	0.30584	U	0.009317	D	0.83635	0.5297	M	0.64404	1.975	0.80722	D	1	D	0.71674	0.998	P	0.60949	0.881	D	0.85154	0.0988	10	0.87932	D	0	.	15.8483	0.78907	0.0:0.0:0.2773:0.7227	.	64	P61328	FGF12_HUMAN	W	64	ENSP00000413496:R64W	ENSP00000413496:R64W	R	-	1	2	FGF12	193608517	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	0.677000	0.25262	0.174000	0.19809	-0.410000	0.06199	CGG		0.667	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032		34	247	0	0	0	1	0	34	247				
UNC5C	8633	broad.mit.edu	37	4	96166282	96166282	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr4:96166282C>T	ENST00000453304.1	-	6	1137	c.789G>A	c.(787-789)tgG>tgA	p.W263*	UNC5C_ENST00000506749.1_Nonsense_Mutation_p.W263*	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	263	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCCAGGTGGACCAGCCACCGT	0.493																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(787-789)tgG>tgA		unc-5 homolog C (C. elegans)							54.0	46.0	49.0					4																	96166282		2203	4300	6503	SO:0001587	stop_gained	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96166282C>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.789G>A	4.37:g.96166282C>T	ENSP00000406022:p.Trp263*					UNC5C_ENST00000506749.1_Nonsense_Mutation_p.W263*	p.W263*	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	6	1137	-		Hepatocellular(203;0.114)	263			TSP type-1 1.		Q8IUT0	Nonsense_Mutation	SNP	ENST00000453304.1	37	c.789G>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	40	8.320503	0.98759	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4568	0.94895	0.0:1.0:0.0:0.0	.	.	.	.	X	263;222;263;263	.	ENSP00000328673:W222X	W	-	3	0	UNC5C	96385305	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	5.933000	0.70130	2.832000	0.97577	0.655000	0.94253	TGG		0.493	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		7	42	0	0	0	1	0	7	42				
ALMS1	7840	broad.mit.edu	37	2	73680429	73680429	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr2:73680429C>G	ENST00000264448.6	+	8	6883	c.6772C>G	c.(6772-6774)Ctt>Gtt	p.L2258V	ALMS1_ENST00000377715.1_Missense_Mutation_p.L2258V|ALMS1_ENST00000409009.1_Missense_Mutation_p.L2216V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2258					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGCTAAAACTCTTAAGGAAAT	0.398																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(6772-6774)Ctt>Gtt		Alstrom syndrome 1							56.0	55.0	55.0					2																	73680429		1845	4082	5927	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73680429C>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.6772C>G	2.37:g.73680429C>G	ENSP00000264448:p.Leu2258Val					ALMS1_ENST00000409009.1_Missense_Mutation_p.L2216V|ALMS1_ENST00000377715.1_Missense_Mutation_p.L2258V	p.L2258V	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	6883	+			2258					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.6772C>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160437	0.57368	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.29917	2.49;2.49;1.55	5.82	4.9	0.64082	.	0.000000	0.44097	D	0.000482	T	0.47967	0.1474	L	0.48642	1.525	0.30282	N	0.791199	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.997	T	0.46679	-0.9174	10	0.87932	D	0	.	13.72	0.62720	0.0:0.8324:0.1676:0.0	.	2258;2216;2258	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	V	2216;2258;2258	ENSP00000386627:L2216V;ENSP00000264448:L2258V;ENSP00000366944:L2258V	ENSP00000264448:L2258V	L	+	1	0	ALMS1	73533937	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	1.249000	0.32839	2.752000	0.94435	0.655000	0.94253	CTT		0.398	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		14	81	0	0	0	1	0	14	81				
KIAA1549	57670	broad.mit.edu	37	7	138529060	138529060	+	Splice_Site	SNP	A	A	G			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr7:138529060A>G	ENST00000422774.1	-	18	5501		c.e18+1		KIAA1549_ENST00000242365.4_Splice_Site|KIAA1549_ENST00000440172.1_Splice_Site			Q9HCM3	K1549_HUMAN	KIAA1549							integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGCCACATATACCTGTGGTAC	0.557			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.e18+1		KIAA1549							28.0	31.0	30.0					7																	138529060		1891	4108	5999	SO:0001630	splice_region_variant	57670					integral to membrane		g.chr7:138529060A>G		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5452+1T>C	7.37:g.138529060A>G						KIAA1549_ENST00000422774.1_Splice_Site|KIAA1549_ENST00000242365.4_Splice_Site		NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			18	5501	-								B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Splice_Site	SNP	ENST00000422774.1	37		CCDS56513.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.872990	0.72180	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5479	0.68044	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1549	138179600	1.000000	0.71417	0.983000	0.44433	0.718000	0.41266	7.708000	0.84633	2.130000	0.65690	0.528000	0.53228	.		0.557	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1		Intron	6	33	0	0	0	1	0	6	33				
SPATA31D5P	347127	broad.mit.edu	37	9	84533044	84533044	+	RNA	SNP	T	T	C	rs530720	byFrequency	TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr9:84533044T>C	ENST00000527857.1	+	0	3066					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		TTTTCTGATATTGACCATGAC	0.458																																						ENST00000527857.1																			0																																																			347127							g.chr9:84533044T>C			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84533044T>C								NR_026851.1						0	3066	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.458	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		3	37	0	0	0	1	0	3	37				
LINC00969	440993	broad.mit.edu	37	3	195400709	195400709	+	lincRNA	SNP	C	C	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr3:195400709C>T	ENST00000445430.1	+	0	1305									long intergenic non-protein coding RNA 969																		ACGGGAATGGCCAGGATCAGA	0.592																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400709C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400709C>T														0	1305	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.592	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	67	0	0	0	1	0	4	67				
ATP8A2	51761	broad.mit.edu	37	13	26434338	26434338	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr13:26434338G>C	ENST00000381655.2	+	31	3104	c.2962G>C	c.(2962-2964)Gtg>Ctg	p.V988L	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.V923L	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	948					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTCAGATACTGTGTTGACAAG	0.343																																						ENST00000381655.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.(2962-2964)Gtg>Ctg		ATPase, aminophospholipid transporter, class I, type 8A, member 2							190.0	171.0	177.0					13																	26434338		1856	4116	5972	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26434338G>C	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2962G>C	13.37:g.26434338G>C	ENSP00000371070:p.Val988Leu					ATP8A2_ENST00000255283.8_Missense_Mutation_p.V923L|ATP8A2_ENST00000491840.1_3'UTR	p.V988L	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	31	3104	+		Breast(139;0.0201)|Lung SC(185;0.0225)	948					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2962G>C	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	9.347	1.064489	0.20067	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.58652	0.32;0.32	5.85	2.04	0.26737	.	0.724473	0.13367	N	0.393190	T	0.43743	0.1261	L	0.28504	0.86	0.09310	N	1	B;B;B	0.14012	0.009;0.002;0.009	B;B;B	0.15052	0.012;0.007;0.008	T	0.24621	-1.0155	10	0.23891	T	0.37	.	12.1005	0.53780	0.0:0.4718:0.4209:0.1073	.	923;768;948	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	L	988;923;768	ENSP00000371070:V988L;ENSP00000255283:V923L	ENSP00000255283:V923L	V	+	1	0	ATP8A2	25332338	0.001000	0.12720	0.002000	0.10522	0.004000	0.04260	0.874000	0.28065	0.367000	0.24454	-0.165000	0.13383	GTG		0.343	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		11	90	0	0	0	1	0	11	90				
FBXL6	26233	broad.mit.edu	37	8	145579649	145579649	+	Missense_Mutation	SNP	C	C	T	rs201941787		TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr8:145579649C>T	ENST00000331890.5	-	8	1515	c.1451G>A	c.(1450-1452)cGg>cAg	p.R484Q	SLC52A2_ENST00000532887.1_5'Flank|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000530047.1_5'Flank|FBXL6_ENST00000455319.2_Missense_Mutation_p.R478Q|SLC52A2_ENST00000527078.1_5'Flank|FBXL6_ENST00000526524.1_Intron|TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|TMEM249_ENST00000531225.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	484					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGGTGTGACCCGGGTGCCCCT	0.632																																						ENST00000331890.5																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(1450-1452)cGg>cAg		F-box and leucine-rich repeat protein 6		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	76.0	74.0	74.0		1451,1433	1.3	0.7	8		74	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	FBXL6	NM_012162.1,NM_024555.3	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	484/540,478/534	145579649	1,13005	2203	4300	6503	SO:0001583	missense	26233				proteolysis		ubiquitin-protein ligase activity	g.chr8:145579649C>T	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"""F-boxes / Leucine-rich repeats"""	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.1451G>A	8.37:g.145579649C>T	ENSP00000330098:p.Arg484Gln					FBXL6_ENST00000526524.1_Intron|FBXL6_ENST00000455319.2_Missense_Mutation_p.R478Q	p.R484Q	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		8	1515	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		484					Q53G43|Q9H5W9|Q9UKC7	Missense_Mutation	SNP	ENST00000331890.5	37	c.1451G>A	CCDS6422.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.415189	0.25552	0.0	1.16E-4	ENSG00000182325	ENST00000455319;ENST00000331890	T;T	0.79141	-1.24;-1.24	4.64	1.26	0.21427	.	0.169230	0.36519	N	0.002551	T	0.56046	0.1959	N	0.25890	0.77	0.22693	N	0.998847	P;P	0.50272	0.89;0.933	B;B	0.40009	0.168;0.316	T	0.51608	-0.8684	10	0.16896	T	0.51	-4.2103	4.5463	0.12083	0.1814:0.6016:0.0:0.217	.	484;478	Q8N531;Q8N531-2	FBXL6_HUMAN;.	Q	478;484	ENSP00000403873:R478Q;ENSP00000330098:R484Q	ENSP00000330098:R484Q	R	-	2	0	FBXL6	145550457	0.623000	0.27094	0.675000	0.29917	0.480000	0.33159	0.233000	0.17911	0.388000	0.25054	0.563000	0.77884	CGG		0.632	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555		15	71	0	0	0	1	0	15	71				
OCM2	4951	broad.mit.edu	37	7	97617777	97617777	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr7:97617777G>A	ENST00000257627.4	-	2	236	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	49	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			lung(4)	4						TCTATGAACCGGAAAACATCC	0.507																																						ENST00000257627.4																			0				lung(4)	4						c.(145-147)Cgg>Tgg		oncomodulin 2							173.0	149.0	157.0					7																	97617777		2203	4300	6503	SO:0001583	missense	4951						calcium ion binding	g.chr7:97617777G>A	BC156841	CCDS5653.1	7q21.2	2014-04-01			ENSG00000135175	ENSG00000135175		"""EF-hand domain containing"""	34396	protein-coding gene	gene with protein product							Standard	NM_006188		Approved		uc003upc.3	P0CE71	OTTHUMG00000154162	ENST00000257627.4:c.145C>T	7.37:g.97617777G>A	ENSP00000257627:p.Arg49Trp					OCM2_ENST00000473987.2_5'UTR	p.R49W	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN			2	236	-			49			EF-hand 1.		P32930|Q6ISI5|Q75MW0	Missense_Mutation	SNP	ENST00000257627.4	37	c.145C>T	CCDS5653.1	.	.	.	.	.	.	.	.	.	.	g	17.57	3.421688	0.62622	.	.	ENSG00000135175	ENST00000257627	T	0.72282	-0.64	3.98	3.98	0.46160	EF-hand-like domain (1);	0.210681	0.40818	N	0.001016	T	0.76702	0.4024	M	0.83603	2.65	0.34089	D	0.660529	D	0.57571	0.98	P	0.50162	0.633	D	0.85283	0.1063	10	0.54805	T	0.06	-9.1981	10.9655	0.47410	0.0:0.1906:0.8094:0.0	.	49	P0CE71	OCM2_HUMAN	W	49	ENSP00000257627:R49W	ENSP00000257627:R49W	R	-	1	2	OCM2	97455713	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.429000	0.34903	2.074000	0.62210	0.472000	0.43445	CGG		0.507	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334188.1	NM_006188		20	129	0	0	0	1	0	20	129				
ANO4	121601	broad.mit.edu	37	12	101493408	101493408	+	Missense_Mutation	SNP	G	G	A	rs370881866		TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr12:101493408G>A	ENST00000392977.3	+	22	2269	c.2059G>A	c.(2059-2061)Gaa>Aaa	p.E687K	ANO4_ENST00000299222.9_Missense_Mutation_p.E207K|ANO4_ENST00000550015.1_Missense_Mutation_p.E207K|ANO4_ENST00000392979.3_Missense_Mutation_p.E652K			Q32M45	ANO4_HUMAN	anoctamin 4	687					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ACATGGACCTGAAAGGAAAAT	0.358										HNSCC(74;0.22)																												ENST00000392979.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(1954-1956)Gaa>Aaa		anoctamin 4		G	LYS/GLU	0,4406		0,0,2203	107.0	108.0	108.0		1954	3.9	1.0	12		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANO4	NM_178826.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	652/921	101493408	1,13005	2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101493408G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2059G>A	12.37:g.101493408G>A	ENSP00000376703:p.Glu687Lys	HNSCC(74;0.22)				ANO4_ENST00000550015.1_Missense_Mutation_p.E207K|ANO4_ENST00000392977.3_Missense_Mutation_p.E687K|ANO4_ENST00000299222.9_Missense_Mutation_p.E207K	p.E652K	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			21	2315	+			687					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1954G>A		.	.	.	.	.	.	.	.	.	.	G	15.16	2.750129	0.49257	0.0	1.16E-4	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.8	3.89	0.44902	.	0.212089	0.40064	N	0.001188	T	0.47525	0.1450	L	0.35487	1.065	0.45250	D	0.998255	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.09377	0.002;0.002;0.004	T	0.39418	-0.9615	10	0.07813	T	0.8	.	14.6054	0.68475	0.0:0.5702:0.4298:0.0	.	207;687;652	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	K	652;207;687;207	ENSP00000376705:E652K;ENSP00000299222:E207K;ENSP00000376703:E687K;ENSP00000450192:E207K	ENSP00000299222:E207K	E	+	1	0	ANO4	100017539	0.998000	0.40836	0.976000	0.42696	0.944000	0.59088	4.058000	0.57463	1.406000	0.46857	0.650000	0.86243	GAA		0.358	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		10	93	0	0	0	1	0	10	93				
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	lincRNA	SNP	G	G	A	rs28392876	byFrequency	TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCTTCCGCCGGGCCAGCAGC	0.672																																						ENST00000412962.1																			0																																																			84809							g.chr1:16946438G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946438G>A														0	1081	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	30	0	0	0	1	0	5	30				
COL11A1	1301	broad.mit.edu	37	1	103412503	103412503	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:103412503C>T	ENST00000370096.3	-	42	3490	c.3178G>A	c.(3178-3180)Gga>Aga	p.G1060R	COL11A1_ENST00000358392.2_Missense_Mutation_p.G1072R|COL11A1_ENST00000512756.1_Missense_Mutation_p.G944R|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1021R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1060	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G1072*(1)|p.G1060*(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCACGTTCTCCTGGTGAGCCC	0.468																																						ENST00000358392.2																			2	Substitution - Nonsense(2)	p.G1072*(1)|p.G1060*(1)	lung(2)	NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3214-3216)Gga>Aga		collagen, type XI, alpha 1							32.0	31.0	31.0					1																	103412503		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103412503C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3178G>A	1.37:g.103412503C>T	ENSP00000359114:p.Gly1060Arg					COL11A1_ENST00000512756.1_Missense_Mutation_p.G944R|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1060R|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1021R	p.G1072R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	42	3531	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1060			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3214G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863665	0.71949	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99353	-5.53;-5.53;-5.53;-5.77	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.99718	0.9891	H	0.97240	3.965	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0	D	0.97386	0.9986	10	0.87932	D	0	.	19.0317	0.92960	0.0:1.0:0.0:0.0	.	944;1021;1072;1060;280	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	R	1060;1072;1021;280;944	ENSP00000359114:G1060R;ENSP00000351163:G1072R;ENSP00000302551:G1021R;ENSP00000426533:G944R	ENSP00000302551:G1021R	G	-	1	0	COL11A1	103185091	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.722000	0.84778	2.580000	0.87095	0.650000	0.86243	GGA		0.468	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		9	29	0	0	0	1	0	9	29				
SNRNP200	23020	broad.mit.edu	37	2	96956103	96956103	+	Silent	SNP	G	G	C			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr2:96956103G>C	ENST00000323853.5	-	20	2780	c.2703C>G	c.(2701-2703)ctC>ctG	p.L901L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	901	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TTTCTGCATTGAGCATGTCAG	0.488																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(2701-2703)ctC>ctG		small nuclear ribonucleoprotein 200kDa (U5)							195.0	180.0	185.0					2																	96956103		2203	4300	6503	SO:0001819	synonymous_variant	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96956103G>C	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.2703C>G	2.37:g.96956103G>C						SNRNP200_ENST00000349783.5_Intron	p.L901L	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			20	2780	-			901			Helicase C-terminal 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	c.2703C>G	CCDS2020.1																																																																																				0.488	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		28	227	0	0	0	1	0	28	227				
BMS1	9790	broad.mit.edu	37	10	43318566	43318566	+	Splice_Site	SNP	G	G	A	rs200948384		TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr10:43318566G>A	ENST00000374518.5	+	20	3196	c.3133G>A	c.(3133-3135)Gga>Aga	p.G1045R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1045					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATACCTGTAGGGAATGTTTAA	0.388																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.e20-1		BMS1 ribosome biogenesis factor							73.0	81.0	78.0					10																	43318566		2202	4298	6500	SO:0001630	splice_region_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318566G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3133-1G>A	10.37:g.43318566G>A							p.G1045_splice	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			20	3196	+			1045					Q5QPT5|Q86XJ9	Splice_Site	SNP	ENST00000374518.5	37	c.3132_splice	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473226	0.84640	.	.	ENSG00000165733	ENST00000374518	T	0.16457	2.34	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49115	0.1538	M	0.88377	2.95	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.59984	-0.7351	9	.	.	.	.	17.7203	0.88349	0.0:0.0:1.0:0.0	.	1045	Q14692	BMS1_HUMAN	R	1045	ENSP00000363642:G1045R	.	G	+	1	0	BMS1	42638572	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.439000	0.97543	2.250000	0.74265	0.454000	0.30748	GGA		0.388	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753	Missense_Mutation	5	128	0	0	0	1	0	5	128				
SEMA4D	10507	broad.mit.edu	37	9	92002396	92002396	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr9:92002396C>A	ENST00000450295.1	-	12	2011	c.1235G>T	c.(1234-1236)aGg>aTg	p.R412M	SEMA4D_ENST00000420987.1_Missense_Mutation_p.R412M|SEMA4D_ENST00000356444.2_Missense_Mutation_p.R412M|SEMA4D_ENST00000343780.4_Missense_Mutation_p.R412M|SEMA4D_ENST00000339861.4_Missense_Mutation_p.R412M|SEMA4D_ENST00000455551.2_Missense_Mutation_p.R412M|SEMA4D_ENST00000422704.2_Missense_Mutation_p.R412M|SEMA4D_ENST00000438547.2_Missense_Mutation_p.R412M			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	412	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTTGATTAACCTGGGCCTGTT	0.507																																						ENST00000450295.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1234-1236)aGg>aTg		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D							169.0	151.0	157.0					9																	92002396		2203	4300	6503	SO:0001583	missense	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:92002396C>A	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.1235G>T	9.37:g.92002396C>A	ENSP00000416523:p.Arg412Met					SEMA4D_ENST00000339861.4_Missense_Mutation_p.R412M|SEMA4D_ENST00000438547.2_Missense_Mutation_p.R412M|SEMA4D_ENST00000356444.2_Missense_Mutation_p.R412M|SEMA4D_ENST00000343780.4_Missense_Mutation_p.R412M|SEMA4D_ENST00000455551.2_Missense_Mutation_p.R412M|SEMA4D_ENST00000420987.1_Missense_Mutation_p.R412M|SEMA4D_ENST00000422704.2_Missense_Mutation_p.R412M	p.R412M			Q92854	SEM4D_HUMAN			12	2011	-			412			Sema.		B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000450295.1	37	c.1235G>T	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.784514	0.31593	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9	5.54	-0.208	0.13185	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.552768	0.19773	N	0.106398	T	0.16171	0.0389	L	0.60455	1.87	0.09310	N	1	B;P	0.34699	0.419;0.464	B;P	0.47626	0.416;0.552	T	0.19386	-1.0307	10	0.59425	D	0.04	.	5.628	0.17492	0.1301:0.3928:0.0:0.4771	.	412;412	Q92854-2;Q92854	.;SEM4D_HUMAN	M	412	ENSP00000344923:R412M;ENSP00000391733:R412M;ENSP00000411981:R412M;ENSP00000343418:R412M;ENSP00000416523:R412M;ENSP00000405102:R412M;ENSP00000348822:R412M;ENSP00000388768:R412M	ENSP00000344923:R412M	R	-	2	0	SEMA4D	91192216	0.000000	0.05858	0.000000	0.03702	0.168000	0.22595	-0.856000	0.04290	-0.187000	0.10516	-0.140000	0.14226	AGG		0.507	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		4	89	1	0	0.150653	1	0.151909	4	89				
ASPA	443	broad.mit.edu	37	17	3386832	3386832	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr17:3386832G>C	ENST00000263080.2	+	3	630	c.472G>C	c.(472-474)Gag>Cag	p.E158Q	ASPA_ENST00000456349.2_Missense_Mutation_p.E158Q|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	158					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TTATCTGATTGAGCATCCTTC	0.403																																						ENST00000263080.2																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17						c.(472-474)Gag>Cag		aspartoacylase	L-Aspartic Acid(DB00128)						184.0	163.0	170.0					17																	3386832		2203	4300	6503	SO:0001583	missense	443				aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding	g.chr17:3386832G>C	S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.472G>C	17.37:g.3386832G>C	ENSP00000263080:p.Glu158Gln					SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.E158Q	p.E158Q	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN			3	630	+			158						Missense_Mutation	SNP	ENST00000263080.2	37	c.472G>C	CCDS11028.1	.	.	.	.	.	.	.	.	.	.	g	17.38	3.375124	0.61735	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.97941	-4.62;-4.62	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.98257	0.9423	M	0.69823	2.125	0.80722	D	1	D	0.71674	0.998	P	0.62382	0.901	D	0.97887	1.0295	10	0.35671	T	0.21	-18.0108	18.5734	0.91145	0.0:0.0:1.0:0.0	.	158	P45381	ACY2_HUMAN	Q	158	ENSP00000409976:E158Q;ENSP00000263080:E158Q	ENSP00000263080:E158Q	E	+	1	0	ASPA	3333582	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	7.834000	0.86773	2.723000	0.93209	0.655000	0.94253	GAG		0.403	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1	NM_000049		11	93	0	0	0	1	0	11	93				
MC2R	4158	broad.mit.edu	37	18	13885017	13885017	+	Silent	SNP	G	G	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr18:13885017G>T	ENST00000327606.3	-	2	681	c.501C>A	c.(499-501)atC>atA	p.I167I		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	167					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GATGGGAGAAGATCACCATGG	0.577																																					Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(499-501)atC>atA		melanocortin 2 receptor (adrenocorticotropic hormone)	Corticotropin(DB01285)|Cosyntropin(DB01284)						160.0	134.0	142.0					18																	13885017		2203	4300	6503	SO:0001819	synonymous_variant	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885017G>T		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.501C>A	18.37:g.13885017G>T							p.I167I	NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN			2	681	-			167					A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	c.501C>A	CCDS11869.1																																																																																				0.577	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			10	85	1	0	1.58986e-06	1	1.68749e-06	10	85				
TRIM13	10206	broad.mit.edu	37	13	50586100	50586100	+	Silent	SNP	C	C	G			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr13:50586100C>G	ENST00000378182.3	+	2	762	c.24C>G	c.(22-24)ctC>ctG	p.L8L	TRIM13_ENST00000298772.5_Silent_p.L11L|TRIM13_ENST00000457662.2_Silent_p.L8L|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000356017.4_Silent_p.L11L|TRIM13_ENST00000420995.2_Silent_p.L8L	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	8					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		AAGAAGATCTCACATGCCCTA	0.383																																						ENST00000378182.3																			0				large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(22-24)ctC>ctG		tripartite motif containing 13							140.0	124.0	130.0					13																	50586100		2203	4300	6503	SO:0001819	synonymous_variant	10206				anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:50586100C>G	AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.24C>G	13.37:g.50586100C>G						TRIM13_ENST00000298772.5_Silent_p.L11L|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000420995.2_Silent_p.L8L|TRIM13_ENST00000356017.4_Silent_p.L11L|TRIM13_ENST00000457662.2_Silent_p.L8L	p.L8L	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)	2	762	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	8					B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Silent	SNP	ENST00000378182.3	37	c.24C>G	CCDS9423.1																																																																																				0.383	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354875.1	NM_001007278		30	159	0	0	0	1	0	30	159				
ARFGEF1	10565	broad.mit.edu	37	8	68111170	68111170	+	Silent	SNP	C	C	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr8:68111170C>T	ENST00000262215.3	-	39	5938	c.5549G>A	c.(5548-5550)tGa>tAa	p.*1850*	ARFGEF1_ENST00000520381.1_Intron|ARFGEF1_ENST00000517955.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	0					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AAGTTCCCATCATTGCTTGTT	0.398																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(5548-5550)tGa>tAa		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							149.0	135.0	139.0					8																	68111170		2202	4300	6502	SO:0001819	synonymous_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68111170C>T	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.5549G>A	8.37:g.68111170C>T						ARFGEF1_ENST00000520381.1_Intron|ARFGEF1_ENST00000517955.1_5'UTR	p.*1850*	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		39	5938	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	0					Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP	ENST00000262215.3	37	c.5549G>A	CCDS6199.1																																																																																				0.398	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		5	103	0	0	0	1	0	5	103				
PARP14	54625	broad.mit.edu	37	3	122399744	122399744	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr3:122399744G>A	ENST00000474629.2	+	1	280	c.14G>A	c.(13-15)gGc>gAc	p.G5D		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GCTGTGCCCGGCTCCTTCCCG	0.632																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(13-15)gGc>gAc		poly (ADP-ribose) polymerase family, member 14							12.0	14.0	14.0					3																	122399744		1895	4091	5986	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122399744G>A	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.14G>A	3.37:g.122399744G>A	ENSP00000418194:p.Gly5Asp						p.G5D	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	1	280	+			5					B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.14G>A	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699385	0.68501	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.10005	2.92	4.4	1.59	0.23543	.	.	.	.	.	T	0.21022	0.0506	M	0.73962	2.25	0.09310	N	1	D	0.59767	0.986	P	0.56398	0.797	T	0.14035	-1.0487	9	0.87932	D	0	.	2.8399	0.05526	0.1026:0.1797:0.5322:0.1855	.	5	Q460N5	PAR14_HUMAN	D	5	ENSP00000418194:G5D	ENSP00000381228:G5D	G	+	2	0	PARP14	123882434	0.001000	0.12720	0.000000	0.03702	0.335000	0.28730	0.408000	0.21065	0.139000	0.18822	0.643000	0.83706	GGC		0.632	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		3	10	0	0	0	1	0	3	10				
CDH18	1016	broad.mit.edu	37	5	19591191	19591191	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr5:19591191C>T	ENST00000507958.1	-	9	1964	c.974G>A	c.(973-975)aGa>aAa	p.R325K	CDH18_ENST00000382275.1_Missense_Mutation_p.R325K|CDH18_ENST00000506372.1_Missense_Mutation_p.R325K|CDH18_ENST00000274170.4_Missense_Mutation_p.R325K|CDH18_ENST00000502796.1_Missense_Mutation_p.R325K|CDH18_ENST00000511273.1_Missense_Mutation_p.R325K			Q13634	CAD18_HUMAN	cadherin 18, type 2	325	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GATTCCTTCTCTGGTCTCTTT	0.403																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(973-975)aGa>aAa		cadherin 18, type 2							113.0	98.0	103.0					5																	19591191		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19591191C>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.974G>A	5.37:g.19591191C>T	ENSP00000425093:p.Arg325Lys					CDH18_ENST00000506372.1_Missense_Mutation_p.R325K|CDH18_ENST00000511273.1_Missense_Mutation_p.R325K|CDH18_ENST00000274170.4_Missense_Mutation_p.R325K|CDH18_ENST00000502796.1_Missense_Mutation_p.R325K|CDH18_ENST00000382275.1_Missense_Mutation_p.R325K	p.R325K			Q13634	CAD18_HUMAN			9	1964	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		325			Cadherin 3.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.974G>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228367	0.58777	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2;1.2	5.24	5.24	0.73138	Cadherin (5);Cadherin-like (1);	0.097829	0.64402	D	0.000002	T	0.26159	0.0638	N	0.16833	0.445	0.42644	D	0.993425	B;B	0.14012	0.002;0.009	B;B	0.24006	0.05;0.029	T	0.07065	-1.0792	9	.	.	.	.	17.3872	0.87420	0.0:1.0:0.0:0.0	.	325;325	B4DHG6;Q13634	.;CAD18_HUMAN	K	325;325;325;325;325;325;271;325	ENSP00000371710:R325K;ENSP00000425093:R325K;ENSP00000274170:R325K;ENSP00000424931:R325K;ENSP00000422138:R325K;ENSP00000427383:R271K;ENSP00000425854:R325K	.	R	-	2	0	CDH18	19626948	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.462000	0.53042	2.428000	0.82296	0.650000	0.86243	AGA		0.403	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		19	123	0	0	0	1	0	19	123				
TAS2R46	259292	broad.mit.edu	37	12	11214124	11214124	+	Missense_Mutation	SNP	T	T	G			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr12:11214124T>G	ENST00000533467.1	-	1	769	c.770A>C	c.(769-771)aAc>aCc	p.N257T	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	257					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GACAGGTTTGTTTTCCAGACT	0.408																																						ENST00000533467.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(769-771)aAc>aCc		taste receptor, type 2, member 46							186.0	196.0	193.0					12																	11214124		2201	4300	6501	SO:0001583	missense	259292				sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	g.chr12:11214124T>G	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.770A>C	12.37:g.11214124T>G	ENSP00000436450:p.Asn257Thr					PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.N257T	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	769	-			257					P59548|Q645X6	Missense_Mutation	SNP	ENST00000533467.1	37	c.770A>C	CCDS53748.1	.	.	.	.	.	.	.	.	.	.	T	8.113	0.779318	0.16120	.	.	ENSG00000226761	ENST00000533467	T	0.00768	5.72	2.54	-1.48	0.08745	.	.	.	.	.	T	0.00998	0.0033	L	0.59436	1.845	0.09310	N	1	P	0.34662	0.462	B	0.37731	0.257	T	0.42430	-0.9452	9	0.37606	T	0.19	.	3.5455	0.07827	0.0:0.2769:0.2058:0.5174	.	257	P59540	T2R46_HUMAN	T	257	ENSP00000436450:N257T	ENSP00000436450:N257T	N	-	2	0	TAS2R46	11105391	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.343000	0.07791	-0.142000	0.11354	0.163000	0.16589	AAC		0.408	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		45	246	0	0	0	1	0	45	246				
OR2C3	81472	broad.mit.edu	37	1	247695055	247695055	+	Silent	SNP	G	G	A	rs529863004		TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:247695055G>A	ENST00000366487.3	-	2	1120	c.759C>T	c.(757-759)taC>taT	p.Y253Y	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGATGCTCCCGTAAAACAGAG	0.547																																						ENST00000366487.3																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(757-759)taC>taT		olfactory receptor, family 2, subfamily C, member 3							121.0	109.0	113.0					1																	247695055		2203	4300	6503	SO:0001819	synonymous_variant	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695055G>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.759C>T	1.37:g.247695055G>A						GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron	p.Y253Y	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	1120	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	253					Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	c.759C>T	CCDS1634.2																																																																																				0.547	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		11	119	0	0	0	1	0	11	119				
SYNE1	23345	broad.mit.edu	37	6	152655237	152655237	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr6:152655237C>T	ENST00000367255.5	-	77	13301	c.12700G>A	c.(12700-12702)Gag>Aag	p.E4234K	SYNE1_ENST00000341594.5_Missense_Mutation_p.E4099K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4234K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E4163K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E4163K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4234					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAAGATCCTCTTCCCTTTGC	0.398										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(12700-12702)Gag>Aag		spectrin repeat containing, nuclear envelope 1							221.0	201.0	208.0					6																	152655237		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152655237C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12700G>A	6.37:g.152655237C>T	ENSP00000356224:p.Glu4234Lys	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.E4099K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E4163K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4234K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E4163K	p.E4234K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	77	13301	-		Ovarian(120;0.0955)	4234					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.12700G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475970	0.63737	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	5.71	3.85	0.44370	.	0.095872	0.45126	D	0.000395	T	0.28333	0.0700	M	0.64997	1.995	0.80722	D	1	P;P;P	0.45827	0.791;0.791;0.867	B;B;P	0.50314	0.434;0.434;0.637	T	0.34976	-0.9807	10	0.06494	T	0.89	.	17.9632	0.89092	0.0:0.8546:0.1453:0.0	.	4234;4234;4163	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	K	4234;4163;4234;4163;4099	ENSP00000356224:E4234K;ENSP00000396024:E4163K;ENSP00000265368:E4234K;ENSP00000390975:E4163K;ENSP00000341887:E4099K	ENSP00000265368:E4234K	E	-	1	0	SYNE1	152696930	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.185000	0.42584	0.668000	0.31126	0.655000	0.94253	GAG		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		5	204	0	0	0	1	0	5	204				
DMRTA1	63951	broad.mit.edu	37	9	22451531	22451531	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr9:22451531C>T	ENST00000325870.2	+	2	1361	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	379					male mating behavior (GO:0060179)|ovarian follicle development (GO:0001541)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		CTAGCAAACTCAGAAGAACTG	0.428																																						ENST00000325870.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1135-1137)tCa>tTa		DMRT-like family A1							80.0	87.0	85.0					9																	22451531		2203	4300	6503	SO:0001583	missense	63951				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:22451531C>T	AJ290954	CCDS6514.1	9p21.3	2008-05-15			ENSG00000176399	ENSG00000176399			13826	protein-coding gene	gene with protein product		614803					Standard	NM_022160		Approved		uc003zpp.1	Q5VZB9	OTTHUMG00000019693	ENST00000325870.2:c.1136C>T	9.37:g.22451531C>T	ENSP00000319651:p.Ser379Leu						p.S379L	NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)	2	1361	+		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)	379					A1L481|Q8N8Y9|Q9H4B9	Missense_Mutation	SNP	ENST00000325870.2	37	c.1136C>T	CCDS6514.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632874	0.29068	.	.	ENSG00000176399	ENST00000325870	T	0.34472	1.36	5.92	5.02	0.67125	.	1.451320	0.03705	N	0.249257	T	0.46288	0.1385	M	0.74258	2.255	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.42275	-0.9461	10	0.66056	D	0.02	-2.6724	11.0909	0.48115	0.0:0.8504:0.0:0.1496	.	379	Q5VZB9	DMRTA_HUMAN	L	379	ENSP00000319651:S379L	ENSP00000319651:S379L	S	+	2	0	DMRTA1	22441531	0.381000	0.25140	0.370000	0.25965	0.975000	0.68041	3.684000	0.54671	1.506000	0.48736	0.650000	0.86243	TCA		0.428	DMRTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051935.2			14	100	0	0	0	1	0	14	100				
CYP11B1	1584	broad.mit.edu	37	8	143956410	143956410	+	Missense_Mutation	SNP	C	C	T	rs367634557		TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr8:143956410C>T	ENST00000292427.4	-	8	1393	c.1361G>A	c.(1360-1362)cGc>cAc	p.R454H	CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R525H	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	454			R -> C (in AH4). {ECO:0000269|PubMed:20947076}.		aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CTCTGCCAGGCGCCGCCCAAG	0.682									Familial Hyperaldosteronism type I																													ENST00000292427.4																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(1360-1362)cGc>cAc		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)	C	HIS/ARG,	1,4405		0,1,2202	49.0	57.0	55.0		1361,	4.0	1.0	8		55	0,8600		0,0,4300	no	missense,intron	CYP11B1	NM_000497.3,NM_001026213.1	29,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,	454/504,	143956410	1,13005	2203	4300	6503	SO:0001583	missense	1584	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143956410C>T	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1361G>A	8.37:g.143956410C>T	ENSP00000292427:p.Arg454His					CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R525H	p.R454H	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			8	1393	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		454		R -> C (in AH4).			Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.1361G>A	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	18.82	3.705498	0.68615	2.27E-4	0.0	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000377675	T;T;T	0.70516	-0.49;-0.39;-0.39	3.98	3.98	0.46160	.	0.128105	0.34314	N	0.004061	T	0.78904	0.4357	L	0.48877	1.53	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.81453	-0.0926	10	0.87932	D	0	.	13.8873	0.63717	0.0:1.0:0.0:0.0	.	525;454;454	Q4VAR0;Q8TDD0;P15538	.;.;C11B1_HUMAN	H	132;454;525	ENSP00000430144:R132H;ENSP00000292427:R454H;ENSP00000366903:R525H	ENSP00000292427:R454H	R	-	2	0	CYP11B1	143953412	0.993000	0.37304	1.000000	0.80357	0.315000	0.28087	3.527000	0.53517	1.939000	0.56221	0.561000	0.74099	CGC		0.682	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			32	98	0	0	0	1	0	32	98				
USO1	8615	broad.mit.edu	37	4	76725349	76725349	+	Silent	SNP	C	C	G			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr4:76725349C>G	ENST00000538159.1	+	19	2076	c.2076C>G	c.(2074-2076)ctC>ctG	p.L692L	USO1_ENST00000514213.2_Silent_p.L668L			O60763	USO1_HUMAN	USO1 vesicle transport factor	683					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATGAACAGCTCCAGACGGCAG	0.383																																						ENST00000538159.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2074-2076)ctC>ctG		USO1 vesicle transport factor							72.0	67.0	68.0					4																	76725349		1958	4153	6111	SO:0001819	synonymous_variant	8615				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	g.chr4:76725349C>G	AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.2076C>G	4.37:g.76725349C>G						USO1_ENST00000514213.2_Silent_p.L668L	p.L692L			O60763	USO1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		19	2076	+			683					B2RAQ0|Q6PK63|Q86TB8|Q8N592	Silent	SNP	ENST00000538159.1	37	c.2076C>G		.	.	.	.	.	.	.	.	.	.	C	9.615	1.132424	0.21041	.	.	ENSG00000138768	ENST00000441296	.	.	.	5.35	-7.18	0.01505	.	.	.	.	.	T	0.32704	0.0838	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42799	-0.9430	4	.	.	.	.	0.3155	0.00295	0.259:0.1809:0.2741:0.2861	.	.	.	.	C	359	.	.	S	+	2	0	USO1	76944373	0.757000	0.28394	0.900000	0.35374	0.988000	0.76386	-0.249000	0.08842	-1.000000	0.03438	0.561000	0.74099	TCC		0.383	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715		10	27	0	0	0	1	0	10	27				
ZC3H11A	9877	broad.mit.edu	37	1	203816649	203816649	+	Silent	SNP	A	A	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:203816649A>T	ENST00000545588.1	+	12	5207	c.1380A>T	c.(1378-1380)gcA>gcT	p.A460A	ZC3H11A_ENST00000367210.1_Silent_p.A460A|ZC3H11A_ENST00000332127.4_Silent_p.A460A|ZC3H11A_ENST00000367214.1_Silent_p.A460A|ZC3H11A_ENST00000367212.3_Silent_p.A460A	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	460					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGGAGCCTGCAGGTAAAACAA	0.453																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1378-1380)gcA>gcT		zinc finger CCCH-type containing 11A							52.0	59.0	57.0					1																	203816649		2201	4299	6500	SO:0001819	synonymous_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203816649A>T		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1380A>T	1.37:g.203816649A>T						ZC3H11A_ENST00000367214.1_Silent_p.A460A|ZC3H11A_ENST00000332127.4_Silent_p.A460A|ZC3H11A_ENST00000367212.3_Silent_p.A460A|ZC3H11A_ENST00000367210.1_Silent_p.A460A	p.A460A	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		12	5207	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		460					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Silent	SNP	ENST00000545588.1	37	c.1380A>T	CCDS30978.1																																																																																				0.453	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		18	113	0	0	0	1	0	18	113				
RFX2	5990	broad.mit.edu	37	19	6040136	6040136	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr19:6040136G>A	ENST00000303657.5	-	5	526	c.377C>T	c.(376-378)gCg>gTg	p.A126V	RFX2_ENST00000359161.3_Missense_Mutation_p.A126V|RFX2_ENST00000592546.1_Missense_Mutation_p.A126V	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGAGGGGACCGCTGGCGGGGA	0.677																																					Colon(38;171 817 19800 47433 48051)	ENST00000303657.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(376-378)gCg>gTg		regulatory factor X, 2 (influences HLA class II expression)							38.0	40.0	40.0					19																	6040136		2178	4252	6430	SO:0001583	missense	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:6040136G>A		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.377C>T	19.37:g.6040136G>A	ENSP00000306335:p.Ala126Val					RFX2_ENST00000592546.1_Missense_Mutation_p.A126V|RFX2_ENST00000359161.3_Missense_Mutation_p.A126V	p.A126V	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN			5	526	-			126					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	ENST00000303657.5	37	c.377C>T	CCDS12157.1	.	.	.	.	.	.	.	.	.	.	G	6.337	0.430188	0.12045	.	.	ENSG00000087903	ENST00000303657;ENST00000359161	T;T	0.63096	-0.02;-0.02	5.48	4.45	0.53987	RFX1 transcription activation region (1);	0.162119	0.53938	D	0.000046	T	0.45736	0.1357	L	0.32530	0.975	0.29188	N	0.876054	B;P	0.38455	0.002;0.632	B;B	0.35073	0.004;0.195	T	0.39375	-0.9617	10	0.07990	T	0.79	-15.2796	12.8748	0.57984	0.0792:0.0:0.9208:0.0	.	126;126	P48378-2;P48378	.;RFX2_HUMAN	V	126	ENSP00000306335:A126V;ENSP00000352076:A126V	ENSP00000306335:A126V	A	-	2	0	RFX2	5991136	0.311000	0.24536	0.004000	0.12327	0.053000	0.15095	2.153000	0.42282	1.314000	0.45095	0.609000	0.83330	GCG		0.677	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		15	91	0	0	0	1	0	15	91				
ADAMTS10	81794	broad.mit.edu	37	19	8654233	8654233	+	Missense_Mutation	SNP	C	C	T	rs372858576		TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr19:8654233C>T	ENST00000597188.1	-	18	2321	c.2051G>A	c.(2050-2052)cGa>cAa	p.R684Q	ADAMTS10_ENST00000595838.1_Missense_Mutation_p.R171Q|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.R684Q	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	684	Cys-rich.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GCCCAGGACTCGGTCGCAGCC	0.692																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(2050-2052)cGa>cAa		ADAM metallopeptidase with thrombospondin type 1 motif, 10		C	GLN/ARG	0,4406		0,0,2203	42.0	44.0	44.0		2051	5.2	1.0	19		44	1,8597	1.2+/-3.3	0,1,4298	no	missense	ADAMTS10	NM_030957.2	43	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	684/1104	8654233	1,13003	2203	4299	6502	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8654233C>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2051G>A	19.37:g.8654233C>T	ENSP00000471851:p.Arg684Gln					ADAMTS10_ENST00000595838.1_Missense_Mutation_p.R171Q|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.R684Q	p.R684Q			Q9H324	ATS10_HUMAN			17	2317	-			684			Cys-rich.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.2051G>A	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029062	0.93518	0.0	1.16E-4	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.58940	0.3	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000001	T	0.71584	0.3357	L	0.58101	1.795	0.80722	D	1	P;D;D	0.89917	0.57;0.997;1.0	B;P;D	0.66716	0.221;0.863;0.946	T	0.69355	-0.5167	10	0.34782	T	0.22	.	17.7537	0.88442	0.0:1.0:0.0:0.0	.	438;684;171	Q59FE5;Q9H324;E9PCI6	.;ATS10_HUMAN;.	Q	684;438	ENSP00000270328:R684Q	ENSP00000270328:R684Q	R	-	2	0	ADAMTS10	8560233	0.998000	0.40836	0.989000	0.46669	0.964000	0.63967	3.948000	0.56660	2.416000	0.81992	0.655000	0.94253	CGA		0.692	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		5	69	0	0	0	1	0	5	69				
PRDM5	11107	broad.mit.edu	37	4	121616407	121616407	+	Silent	SNP	C	C	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr4:121616407C>T	ENST00000264808.3	-	16	1992	c.1752G>A	c.(1750-1752)ctG>ctA	p.L584L	PRDM5_ENST00000515109.1_3'UTR|PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000428209.2_Silent_p.L553L	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	584					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCATTTTCTTCAGGCTAAAAG	0.358																																						ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1750-1752)ctG>ctA		PR domain containing 5							93.0	91.0	92.0					4																	121616407		2203	4300	6503	SO:0001819	synonymous_variant	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121616407C>T	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1752G>A	4.37:g.121616407C>T						PRDM5_ENST00000515109.1_3'UTR|PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000428209.2_Silent_p.L553L	p.L584L	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			16	1992	-			584					Q0VAI9|Q0VAJ0|Q6NXQ7	Silent	SNP	ENST00000264808.3	37	c.1752G>A	CCDS3716.1																																																																																				0.358	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			12	80	0	0	0	1	0	12	80				
NPEPPS	9520	broad.mit.edu	37	17	45689949	45689949	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr17:45689949C>G	ENST00000322157.4	+	18	2456	c.2219C>G	c.(2218-2220)tCc>tGc	p.S740C	NPEPPS_ENST00000544660.1_Missense_Mutation_p.S660C|RP11-580I16.2_ENST00000582389.1_RNA|NPEPPS_ENST00000530173.1_Missense_Mutation_p.S736C|RP11-580I16.2_ENST00000582066.1_RNA	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	740					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						CAGATTCTCTCCGCTGATCTG	0.408																																						ENST00000322157.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						c.(2218-2220)tCc>tGc		aminopeptidase puromycin sensitive							99.0	98.0	98.0					17																	45689949		1862	4106	5968	SO:0001583	missense	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45689949C>G	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.2219C>G	17.37:g.45689949C>G	ENSP00000320324:p.Ser740Cys					NPEPPS_ENST00000530173.1_Missense_Mutation_p.S736C|RP11-580I16.2_ENST00000582066.1_RNA|RP11-580I16.2_ENST00000582389.1_RNA|NPEPPS_ENST00000544660.1_Missense_Mutation_p.S660C	p.S740C	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN			18	2456	+			740					B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	c.2219C>G	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.263377	0.80358	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000544660	T;T;T	0.05717	3.4;3.4;3.4	5.32	5.32	0.75619	.	0.169262	0.53938	D	0.000041	T	0.17704	0.0425	L	0.52573	1.65	0.53688	D	0.999978	D;D;D	0.63046	0.992;0.971;0.992	P;P;P	0.61874	0.895;0.84;0.84	T	0.00075	-1.2122	10	0.66056	D	0.02	.	14.591	0.68365	0.0:0.8542:0.1458:0.0	.	736;423;740	E9PLK3;B7Z1H4;P55786	.;.;PSA_HUMAN	C	736;740;660	ENSP00000433287:S736C;ENSP00000320324:S740C;ENSP00000442461:S660C	ENSP00000320324:S740C	S	+	2	0	NPEPPS	43044948	1.000000	0.71417	0.982000	0.44146	0.988000	0.76386	5.982000	0.70532	2.474000	0.83562	0.650000	0.86243	TCC		0.408	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		17	97	0	0	0	1	0	17	97				
MEX3D	399664	broad.mit.edu	37	19	1556694	1556694	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr19:1556694G>T	ENST00000402693.4	-	2	823	c.824C>A	c.(823-825)aCc>aAc	p.T275N	MEX3D_ENST00000388824.6_Missense_Mutation_p.T275N|AC027307.1_ENST00000410788.1_RNA|AC027307.2_ENST00000581992.1_RNA	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	275	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCTGGATGGTGGTCTGTCC	0.716																																						ENST00000402693.4																			0				endometrium(1)|lung(3)	4						c.(823-825)aCc>aAc		mex-3 RNA binding family member D							17.0	20.0	19.0					19																	1556694		2192	4285	6477	SO:0001583	missense	399664				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding	g.chr19:1556694G>T	AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	16734	protein-coding gene	gene with protein product	"""bcl-2 ARE RNA binding protein"""	611009	"""ring finger and KH domain containing 1"", ""mex-3 homolog D (C. elegans)"""	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.824C>A	19.37:g.1556694G>T	ENSP00000384398:p.Thr275Asn					MEX3D_ENST00000388824.6_Missense_Mutation_p.T275N	p.T275N	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	823	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	275			KH 2.		A0PJL8|A1L023|E9PAL6|Q71M49	Missense_Mutation	SNP	ENST00000402693.4	37	c.824C>A	CCDS32865.2	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435417	0.43224	.	.	ENSG00000181588	ENST00000355663;ENST00000402693;ENST00000388824	T;T	0.35421	1.31;1.31	4.63	3.57	0.40892	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.61602	0.2360	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67369	-0.5688	10	0.87932	D	0	-42.9782	12.9766	0.58540	0.0:0.0:0.8368:0.1632	.	275	Q86XN8	MEX3D_HUMAN	N	165;275;275	ENSP00000384398:T275N;ENSP00000373476:T275N	ENSP00000347885:T165N	T	-	2	0	MEX3D	1507694	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	9.396000	0.97270	0.912000	0.36772	-0.500000	0.04577	ACC		0.716	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317870.2	NM_203304		6	62	1	0	3.59834e-05	1	3.72136e-05	6	62				
LAMC2	3918	broad.mit.edu	37	1	183208566	183208566	+	Silent	SNP	C	C	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:183208566C>T	ENST00000264144.4	+	20	3002	c.2937C>T	c.(2935-2937)atC>atT	p.I979I	LAMC2_ENST00000493293.1_Silent_p.I979I	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	979	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TCTCCTACATCAGCCAGAAGG	0.517																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2935-2937)atC>atT		laminin, gamma 2							96.0	112.0	106.0					1																	183208566		2203	4300	6503	SO:0001819	synonymous_variant	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183208566C>T	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2937C>T	1.37:g.183208566C>T						LAMC2_ENST00000493293.1_Silent_p.I979I	p.I979I	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			20	3002	+			979			Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Silent	SNP	ENST00000264144.4	37	c.2937C>T	CCDS1352.1																																																																																				0.517	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		34	203	0	0	0	1	0	34	203				
CLK4	57396	broad.mit.edu	37	5	178044413	178044413	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr5:178044413G>C	ENST00000316308.4	-	4	575	c.407C>G	c.(406-408)tCc>tGc	p.S136C	RN7SKP70_ENST00000516655.1_RNA|CLK4_ENST00000522749.1_Intron	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	136					protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TATACTCCTGGATCTTTTCCT	0.433																																						ENST00000316308.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21						c.(406-408)tCc>tGc		CDC-like kinase 4							111.0	95.0	101.0					5																	178044413		2203	4300	6503	SO:0001583	missense	57396					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr5:178044413G>C	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.407C>G	5.37:g.178044413G>C	ENSP00000316948:p.Ser136Cys					CLK4_ENST00000522749.1_Intron	p.S136C	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	4	575	-	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	136						Missense_Mutation	SNP	ENST00000316308.4	37	c.407C>G	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.835887	0.50951	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	T	0.70045	-0.45	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.79191	0.4404	M	0.70275	2.135	0.80722	D	1	P;D;P;P	0.71674	0.878;0.998;0.948;0.948	P;P;B;B	0.59703	0.473;0.862;0.293;0.293	T	0.80636	-0.1294	10	0.66056	D	0.02	.	17.4377	0.87557	0.0:0.0:1.0:0.0	.	136;136;136;136	B7Z990;B7ZL31;B9EG64;Q9HAZ1	.;.;.;CLK4_HUMAN	C	136	ENSP00000316948:S136C	ENSP00000316948:S136C	S	-	2	0	CLK4	177977019	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.675000	0.98638	2.706000	0.92434	0.561000	0.74099	TCC		0.433	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			10	64	0	0	0	1	0	10	64				
IGKV1D-42	28892	broad.mit.edu	37	2	90229357	90229357	+	RNA	SNP	G	G	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr2:90229357G>A	ENST00000390278.2	+	0	197									immunoglobulin kappa variable 1D-42 (non-functional)																		CCTGGTATCTGCAGAAACCAG	0.493																																						ENST00000390278.2																			0																				76.0	81.0	79.0					2																	90229357		1887	4123	6010			28892							g.chr2:90229357G>A	X72816		2p11.2	2012-02-08	2008-09-09		ENSG00000211633	ENSG00000211633		"""Immunoglobulins / IGK locus"""	5757	other	immunoglobulin gene			"""immunoglobulin kappa variable 1D-42"""				Standard	NG_000833		Approved				OTTHUMG00000151573		2.37:g.90229357G>A														0	197	+									RNA	SNP	ENST00000390278.2	37																																																																																						0.493	IGKV1D-42-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323148.1	NG_000833		4	89	0	0	0	1	0	4	89				
PIK3AP1	118788	broad.mit.edu	37	10	98411122	98411122	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr10:98411122G>C	ENST00000339364.5	-	6	990	c.871C>G	c.(871-873)Ccc>Gcc	p.P291A	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.P113A|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	291	DBB. {ECO:0000255|PROSITE- ProRule:PRU00707}.				negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTGTTGTAGGGCACAATTTTA	0.453																																						ENST00000339364.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52						c.(871-873)Ccc>Gcc		phosphoinositide-3-kinase adaptor protein 1							136.0	137.0	137.0					10																	98411122		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98411122G>C	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.871C>G	10.37:g.98411122G>C	ENSP00000339826:p.Pro291Ala					PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.P113A	p.P291A	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	6	990	-		Colorectal(252;0.0442)	291			DBB.		Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.871C>G	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225075	0.58668	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	T;T	0.19669	2.82;2.13	5.85	5.85	0.93711	DBB domain (1);	0.107942	0.64402	D	0.000004	T	0.26810	0.0656	M	0.65498	2.005	0.80722	D	1	P	0.37731	0.607	B	0.32465	0.146	T	0.03695	-1.1012	10	0.54805	T	0.06	-20.695	19.1516	0.93491	0.0:0.0:1.0:0.0	.	291	Q6ZUJ8	BCAP_HUMAN	A	291;113	ENSP00000339826:P291A;ENSP00000360151:P113A	ENSP00000339826:P291A	P	-	1	0	PIK3AP1	98401112	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.005000	0.57075	2.773000	0.95371	0.655000	0.94253	CCC		0.453	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		25	86	0	0	0	1	0	25	86				
OR2M5	127059	broad.mit.edu	37	1	248308903	248308903	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:248308903G>A	ENST00000366476.1	+	1	454	c.454G>A	c.(454-456)Ggc>Agc	p.G152S		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			CTGGATCCTGGGCTCTATGGA	0.468																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(454-456)Ggc>Agc		olfactory receptor, family 2, subfamily M, member 5							261.0	254.0	256.0					1																	248308903		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308903G>A		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.454G>A	1.37:g.248308903G>A	ENSP00000355432:p.Gly152Ser						p.G152S	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	454	+	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)		152						Missense_Mutation	SNP	ENST00000366476.1	37	c.454G>A	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	15.51	2.855716	0.51376	.	.	ENSG00000162727	ENST00000366476	T	0.32988	1.43	3.28	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32593	U	0.005894	T	0.47488	0.1448	L	0.58669	1.825	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.19877	-1.0292	10	0.66056	D	0.02	.	9.5883	0.39530	0.1111:0.0:0.8889:0.0	.	152	A3KFT3	OR2M5_HUMAN	S	152	ENSP00000355432:G152S	ENSP00000355432:G152S	G	+	1	0	OR2M5	246375526	0.694000	0.27738	0.039000	0.18376	0.274000	0.26718	3.888000	0.56204	1.528000	0.49103	0.492000	0.49549	GGC		0.468	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		50	479	0	0	0	1	0	50	479				
ITGA5	3678	broad.mit.edu	37	12	54812814	54812814	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr12:54812814C>G	ENST00000293379.4	-	1	430	c.169G>C	c.(169-171)Ggc>Cgc	p.G57R	RP11-753H16.3_ENST00000552053.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	57					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AAGAAGGAGCCCGGGGGCCCC	0.687																																						ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(169-171)Ggc>Cgc		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							16.0	23.0	21.0					12																	54812814		2100	4188	6288	SO:0001583	missense	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54812814C>G		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.169G>C	12.37:g.54812814C>G	ENSP00000293379:p.Gly57Arg					RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	p.G57R	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN			1	430	-			57					Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	c.169G>C	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028392	0.54790	.	.	ENSG00000161638	ENST00000293379	D	0.91351	-2.83	4.54	3.62	0.41486	.	0.118699	0.56097	N	0.000033	D	0.94285	0.8164	M	0.79614	2.46	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.94110	0.7370	10	0.72032	D	0.01	.	10.4879	0.44733	0.0:0.8027:0.1973:0.0	.	57	P08648	ITA5_HUMAN	R	57	ENSP00000293379:G57R	ENSP00000293379:G57R	G	-	1	0	ITGA5	53099081	0.990000	0.36364	0.984000	0.44739	0.934000	0.57294	2.738000	0.47401	1.236000	0.43740	0.462000	0.41574	GGC		0.687	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			7	46	0	0	0	1	0	7	46				
LHX8	431707	broad.mit.edu	37	1	75602909	75602909	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:75602909G>T	ENST00000294638.5	+	4	894	c.230G>T	c.(229-231)aGt>aTt	p.S77I	LHX8_ENST00000356261.3_Missense_Mutation_p.S67I|LHX8_ENST00000559413.1_3'UTR	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	77	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						GTGTGCAACAGTTGCGGCCTG	0.662																																						ENST00000294638.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						c.(229-231)aGt>aTt		LIM homeobox 8							33.0	35.0	34.0					1																	75602909		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75602909G>T	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.230G>T	1.37:g.75602909G>T	ENSP00000294638:p.Ser77Ile					LHX8_ENST00000559413.1_3'UTR|LHX8_ENST00000356261.3_Missense_Mutation_p.S67I	p.S77I	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN			4	894	+			77			LIM zinc-binding 1.		E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.230G>T	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033261	0.75504	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.90620	-2.7;-2.7	5.14	5.14	0.70334	Zinc finger, LIM-type (5);	0.119860	0.85682	D	0.000000	D	0.91543	0.7329	M	0.71036	2.16	0.45899	D	0.998747	P	0.46457	0.878	P	0.54965	0.765	D	0.92393	0.5923	10	0.66056	D	0.02	.	12.0152	0.53309	0.0797:0.0:0.9203:0.0	.	77	Q68G74	LHX8_HUMAN	I	77;67	ENSP00000294638:S77I;ENSP00000348597:S67I	ENSP00000294638:S77I	S	+	2	0	LHX8	75375497	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.324000	0.59228	2.392000	0.81423	0.555000	0.69702	AGT		0.662	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		5	36	1	0	0.000602214	1	0.000612336	5	36				
FNDC8	54752	broad.mit.edu	37	17	33454292	33454292	+	Silent	SNP	G	G	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr17:33454292G>A	ENST00000158009.5	+	2	556	c.441G>A	c.(439-441)caG>caA	p.Q147Q		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	147						nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		CGAAGTCCCAGATGGCCACAA	0.582																																						ENST00000158009.5																			0				breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11						c.(439-441)caG>caA		fibronectin type III domain containing 8							106.0	113.0	111.0					17																	33454292		2203	4300	6503	SO:0001819	synonymous_variant	54752							g.chr17:33454292G>A	BC024002	CCDS11290.1	17q12	2013-02-11			ENSG00000073598	ENSG00000073598		"""Fibronectin type III domain containing"""	25286	protein-coding gene	gene with protein product						12477932	Standard	XM_005257993		Approved	DKFZp434H2215	uc002hix.3	Q8TC99	OTTHUMG00000132932	ENST00000158009.5:c.441G>A	17.37:g.33454292G>A							p.Q147Q	NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)	2	556	+		Ovarian(249;0.17)	147					B2R9G6|Q9UFC2	Silent	SNP	ENST00000158009.5	37	c.441G>A	CCDS11290.1																																																																																				0.582	FNDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256459.2	NM_017559		30	195	0	0	0	1	0	30	195				
SRRM2	23524	broad.mit.edu	37	16	2817994	2817994	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr16:2817994G>A	ENST00000301740.8	+	11	8014	c.7465G>A	c.(7465-7467)Gat>Aat	p.D2489N	SRRM2_ENST00000574593.1_3'UTR|AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2489	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTCTGCTGGTGATCACAATGG	0.607																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(7465-7467)Gat>Aat		serine/arginine repetitive matrix 2							109.0	95.0	99.0					16																	2817994		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2817994G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7465G>A	16.37:g.2817994G>A	ENSP00000301740:p.Asp2489Asn					SRRM2_ENST00000574593.1_3'UTR	p.D2489N	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	8014	+			2489			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.7465G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581857	0.86748	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.77750	-1.12	5.91	5.91	0.95273	.	0.080647	0.52532	D	0.000061	T	0.68595	0.3018	N	0.19112	0.55	0.33053	D	0.533004	B	0.29531	0.247	B	0.33568	0.166	T	0.74979	-0.3479	10	0.51188	T	0.08	-6.5765	15.8054	0.78501	0.0:0.0:1.0:0.0	.	2489	Q9UQ35	SRRM2_HUMAN	N	2489;2071;1741	ENSP00000301740:D2489N	ENSP00000301740:D2489N	D	+	1	0	SRRM2	2757995	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	3.620000	0.54203	2.808000	0.96608	0.655000	0.94253	GAT		0.607	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			9	76	0	0	0	1	0	9	76				
NSMAF	8439	broad.mit.edu	37	8	59520336	59520336	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr8:59520336T>C	ENST00000038176.3	-	11	963	c.751A>G	c.(751-753)Atg>Gtg	p.M251V	NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Missense_Mutation_p.M282V	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	251					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				ACCAGAGGCATGAGGCCGTGC	0.458																																						ENST00000038176.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(751-753)Atg>Gtg		neutral sphingomyelinase (N-SMase) activation associated factor							133.0	140.0	138.0					8																	59520336		2203	4300	6503	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59520336T>C	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.751A>G	8.37:g.59520336T>C	ENSP00000038176:p.Met251Val					NSMAF_ENST00000427130.2_Missense_Mutation_p.M282V|NSMAF_ENST00000519858.1_5'UTR	p.M251V	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN			11	963	-		all_lung(136;0.174)|Lung NSC(129;0.2)	251					B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.751A>G	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	T	9.505	1.104317	0.20632	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.52983	0.65;0.64	5.37	2.94	0.34122	PH-BEACH domain (1);	0.079566	0.85682	D	0.000000	T	0.29126	0.0724	N	0.24115	0.695	0.32625	N	0.522783	B;B;B	0.30236	0.274;0.136;0.136	B;B;B	0.30943	0.122;0.05;0.05	T	0.30179	-0.9987	9	.	.	.	.	7.0069	0.24842	0.0:0.0722:0.2855:0.6423	.	282;251;251	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	V	251;282	ENSP00000038176:M251V;ENSP00000411012:M282V	.	M	-	1	0	NSMAF	59682890	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	3.470000	0.53100	0.421000	0.25980	-0.258000	0.10820	ATG		0.458	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		18	121	0	0	0	1	0	18	121				
YARS	8565	broad.mit.edu	37	1	33263385	33263385	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:33263385C>G	ENST00000373477.4	-	5	1478	c.570G>C	c.(568-570)aaG>aaC	p.K190N		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	190					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	AGGTGAAAATCTTTCTCTGAT	0.383																																						ENST00000373477.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15						c.(568-570)aaG>aaC		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						117.0	102.0	107.0					1																	33263385		2203	4300	6503	SO:0001583	missense	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33263385C>G	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.570G>C	1.37:g.33263385C>G	ENSP00000362576:p.Lys190Asn						p.K190N	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN			5	1478	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	190					B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	c.570G>C	CCDS368.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382132	0.82792	.	.	ENSG00000134684	ENST00000373477	T	0.72615	-0.67	4.94	3.07	0.35406	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.87700	0.6243	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88787	0.3275	10	0.87932	D	0	-20.1445	8.5724	0.33578	0.0:0.7584:0.0:0.2416	.	190	P54577	SYYC_HUMAN	N	190	ENSP00000362576:K190N	ENSP00000362576:K190N	K	-	3	2	YARS	33035972	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.396000	0.34531	1.426000	0.47256	0.655000	0.94253	AAG		0.383	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		20	99	0	0	0	1	0	20	99				
PCDH9	5101	broad.mit.edu	37	13	66879131	66879131	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr13:66879131C>T	ENST00000377865.2	-	4	3504	c.3370G>A	c.(3370-3372)Gaa>Aaa	p.E1124K	PCDH9_ENST00000328454.5_Missense_Mutation_p.E1090K|PCDH9_ENST00000544246.1_Missense_Mutation_p.E1124K|PCDH9_ENST00000456367.1_Missense_Mutation_p.E1090K|PCDH9-AS1_ENST00000430861.1_RNA			Q9HC56	PCDH9_HUMAN	protocadherin 9	1124					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCTGTAGCTTCAGCTAATCCT	0.438																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(3370-3372)Gaa>Aaa		protocadherin 9							53.0	49.0	50.0					13																	66879131		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:66879131C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3370G>A	13.37:g.66879131C>T	ENSP00000367096:p.Glu1124Lys					PCDH9_ENST00000377865.2_Missense_Mutation_p.E1124K|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Missense_Mutation_p.E1090K|PCDH9_ENST00000456367.1_Missense_Mutation_p.E1090K	p.E1124K	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	5	4061	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	1124					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.3370G>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667046	0.67814	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.54866	0.63;0.63;0.55;0.55	6.07	6.07	0.98685	.	0.000000	0.50627	D	0.000115	T	0.49201	0.1543	L	0.39898	1.24	0.50313	D	0.999869	B;B;B	0.28350	0.163;0.208;0.163	B;B;B	0.26310	0.042;0.068;0.042	T	0.37619	-0.9698	10	0.45353	T	0.12	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1082;1090;1124	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	K	1124;1124;1090;1090	ENSP00000442186:E1124K;ENSP00000367096:E1124K;ENSP00000401699:E1090K;ENSP00000332060:E1090K	ENSP00000332060:E1090K	E	-	1	0	PCDH9	65777132	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.463000	0.80869	2.890000	0.99128	0.650000	0.86243	GAA		0.438	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		10	66	0	0	0	1	0	10	66				
RNH1	6050	broad.mit.edu	37	11	498031	498031	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr11:498031G>A	ENST00000534797.1	-	7	2474	c.1067C>T	c.(1066-1068)gCg>gTg	p.A356V	RNH1_ENST00000397614.1_Missense_Mutation_p.A356V|RNH1_ENST00000533592.1_5'Flank|RNH1_ENST00000438658.2_Missense_Mutation_p.A356V|RNH1_ENST00000397615.2_Missense_Mutation_p.A356V|RNH1_ENST00000356187.5_Missense_Mutation_p.A356V|RNH1_ENST00000533410.1_Missense_Mutation_p.A356V|RNH1_ENST00000397604.3_Missense_Mutation_p.A356V|RNH1_ENST00000354420.2_Missense_Mutation_p.A356V			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGCACGCCCGCATCCTCCAG	0.612																																						ENST00000534797.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1066-1068)gCg>gTg		ribonuclease/angiogenin inhibitor 1							93.0	89.0	90.0					11																	498031		2203	4300	6503	SO:0001583	missense	6050				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity	g.chr11:498031G>A		CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"""ribonuclease/angiogenin inhibitor"""	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.1067C>T	11.37:g.498031G>A	ENSP00000433999:p.Ala356Val					RNH1_ENST00000533410.1_Missense_Mutation_p.A356V|RNH1_ENST00000397604.3_Missense_Mutation_p.A356V|RNH1_ENST00000397614.1_Missense_Mutation_p.A356V|RNH1_ENST00000397615.2_Missense_Mutation_p.A356V|RNH1_ENST00000356187.5_Missense_Mutation_p.A356V|RNH1_ENST00000354420.2_Missense_Mutation_p.A356V|RNH1_ENST00000438658.2_Missense_Mutation_p.A356V	p.A356V			P13489	RINI_HUMAN		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	2474	-		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	356					B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000534797.1	37	c.1067C>T	CCDS7697.1	.	.	.	.	.	.	.	.	.	.	G	5.634	0.301599	0.10678	.	.	ENSG00000023191	ENST00000534797;ENST00000397614;ENST00000397615;ENST00000397604;ENST00000529768;ENST00000533410;ENST00000438658;ENST00000354420;ENST00000356187	T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.92;0.58;0.58;0.58;0.58	3.73	-2.18	0.07037	.	3.211130	0.01514	N	0.018053	T	0.36166	0.0957	L	0.49256	1.55	0.09310	N	1	P	0.38711	0.643	B	0.14023	0.01	T	0.22138	-1.0225	10	0.28530	T	0.3	.	3.8387	0.08905	0.2468:0.0:0.3431:0.4101	.	356	P13489	RINI_HUMAN	V	356;356;356;356;150;356;356;356;356	ENSP00000433999:A356V;ENSP00000380738:A356V;ENSP00000380739:A356V;ENSP00000380729:A356V;ENSP00000432170:A150V;ENSP00000435594:A356V;ENSP00000416589:A356V;ENSP00000346402:A356V;ENSP00000348515:A356V	ENSP00000346402:A356V	A	-	2	0	RNH1	488031	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.689000	0.05144	-0.261000	0.09405	-0.258000	0.10820	GCG		0.612	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384301.1	NM_203389		4	97	0	0	0	1	0	4	97				
SZT2	23334	broad.mit.edu	37	1	43907989	43907989	+	Nonsense_Mutation	SNP	C	C	T	rs201557875		TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:43907989C>T	ENST00000562955.1	+	56	7753	c.7753C>T	c.(7753-7755)Cga>Tga	p.R2585*	SZT2_ENST00000372442.1_Nonsense_Mutation_p.R1743*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2642					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GAGCTCAGGGCGAAATGCTCC	0.602																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(7753-7755)Cga>Tga		seizure threshold 2 homolog (mouse)							38.0	41.0	40.0					1																	43907989		2203	4300	6503	SO:0001587	stop_gained	23334					peroxisome		g.chr1:43907989C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7753C>T	1.37:g.43907989C>T	ENSP00000457168:p.Arg2585*					SZT2_ENST00000372442.1_Nonsense_Mutation_p.R1743*	p.R2585*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			56	7753	+			2642					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Nonsense_Mutation	SNP	ENST00000562955.1	37	c.7753C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	46	12.555033	0.99677	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.15	0.734	0.18294	.	0.368959	0.25071	N	0.033377	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0592	0.58997	0.5567:0.4433:0.0:0.0	.	.	.	.	X	1743	.	ENSP00000361519:R1743X	R	+	1	2	SZT2	43680576	0.038000	0.19896	0.015000	0.15790	0.916000	0.54674	0.311000	0.19380	0.147000	0.19030	-0.181000	0.13052	CGA		0.602	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		4	29	0	0	0	1	0	4	29				
ANO8	57719	broad.mit.edu	37	19	17439147	17439147	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr19:17439147C>A	ENST00000159087.4	-	13	2208	c.2050G>T	c.(2050-2052)Ggc>Tgc	p.G684C		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	684					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CGGCCCTCGCCCCCGGCCCGG	0.741																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(2050-2052)Ggc>Tgc		anoctamin 8							6.0	7.0	7.0					19																	17439147		1971	4051	6022	SO:0001583	missense	57719					chloride channel complex	chloride channel activity	g.chr19:17439147C>A	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2050G>T	19.37:g.17439147C>A	ENSP00000159087:p.Gly684Cys						p.G684C	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			13	2208	-			684					A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	c.2050G>T	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042933	0.55003	.	.	ENSG00000074855	ENST00000159087	T	0.62788	0.0	5.04	3.99	0.46301	.	0.273852	0.35067	N	0.003467	T	0.73353	0.3576	L	0.59436	1.845	0.38897	D	0.957234	D	0.89917	1.0	D	0.77004	0.989	T	0.76350	-0.2991	10	0.66056	D	0.02	.	11.1103	0.48228	0.0:0.9081:0.0:0.0919	.	684	Q9HCE9	ANO8_HUMAN	C	684	ENSP00000159087:G684C	ENSP00000159087:G684C	G	-	1	0	ANO8	17300147	0.004000	0.15560	0.796000	0.32109	0.573000	0.36030	0.706000	0.25690	1.118000	0.41863	0.491000	0.48974	GGC		0.741	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		3	6	1	0	1	1	1	3	6				
PKD1	5310	broad.mit.edu	37	16	2159887	2159887	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr16:2159887C>T	ENST00000262304.4	-	15	5489	c.5281G>A	c.(5281-5283)Gag>Aag	p.E1761K	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.E1761K	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1761	PKD 13. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCGGAGGTCTCCCAGCTCAGC	0.632																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(5281-5283)Gag>Aag		polycystic kidney disease 1 (autosomal dominant)							47.0	43.0	45.0					16																	2159887		2191	4295	6486	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2159887C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.5281G>A	16.37:g.2159887C>T	ENSP00000262304:p.Glu1761Lys					PKD1_ENST00000423118.1_Missense_Mutation_p.E1761K	p.E1761K	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	5489	-			1761			PKD 13.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.5281G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	7.100	0.573936	0.13623	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.60299	0.2;0.2	4.47	3.49	0.39957	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (4);	0.800356	0.11532	N	0.554628	T	0.43478	0.1249	L	0.40543	1.245	0.19775	N	0.99995	B;B	0.11235	0.004;0.002	B;B	0.20384	0.009;0.029	T	0.35201	-0.9798	10	0.06891	T	0.86	.	8.0717	0.30693	0.1557:0.7624:0.0:0.0818	.	1761;1761	P98161-3;P98161	.;PKD1_HUMAN	K	1761;1761;1293;40	ENSP00000262304:E1761K;ENSP00000399501:E1761K	ENSP00000262304:E1761K	E	-	1	0	PKD1	2099888	0.002000	0.14202	1.000000	0.80357	0.274000	0.26718	1.660000	0.37397	1.081000	0.41110	0.550000	0.68814	GAG		0.632	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			7	40	0	0	0	1	0	7	40				
KIAA1755	85449	broad.mit.edu	37	20	36869477	36869477	+	Silent	SNP	G	G	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr20:36869477G>A	ENST00000279024.4	-	3	1327	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	352										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CCTTTCTCCTGAAGCCCAAAT	0.527																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(1054-1056)ttC>ttT		KIAA1755							142.0	157.0	152.0					20																	36869477		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36869477G>A	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1056C>T	20.37:g.36869477G>A							p.F352F	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			3	1327	-		Myeloproliferative disorder(115;0.00874)	352					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.1056C>T	CCDS33467.1																																																																																				0.527	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		42	336	0	0	0	1	0	42	336				
GPR148	344561	broad.mit.edu	37	2	131487607	131487607	+	Missense_Mutation	SNP	G	G	A	rs76455422		TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr2:131487607G>A	ENST00000309926.4	+	1	965	c.883G>A	c.(883-885)Ggg>Agg	p.G295R		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CATTGACTCTGGGACTCACAC	0.562													.|||	1	0.000199681	0.0	0.0014	5008	,	,		21419	0.0		0.0	False		,,,				2504	0.0					ENST00000309926.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27						c.(883-885)Ggg>Agg		G protein-coupled receptor 148		G	ARG/GLY	0,4406		0,0,2203	157.0	120.0	132.0		883	2.2	0.0	2	dbSNP_131	132	2,8598		0,2,4298	no	missense	GPR148	NM_207364.2	125	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	295/348	131487607	2,13004	2203	4300	6503	SO:0001583	missense	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131487607G>A	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.883G>A	2.37:g.131487607G>A	ENSP00000308908:p.Gly295Arg						p.G295R	NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN			1	965	+	Colorectal(110;0.1)		295					Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	c.883G>A	CCDS2163.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	.	0.015	-1.549742	0.00926	0.0	2.33E-4	ENSG00000173302	ENST00000309926	T	0.36520	1.25	3.37	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	1.160310	0.06897	N	0.805359	T	0.18299	0.0439	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29610	-1.0006	10	0.17832	T	0.49	0.1974	6.2937	0.21075	0.8639:0.0:0.1361:0.0	.	295	Q8TDV2	GP148_HUMAN	R	295	ENSP00000308908:G295R	ENSP00000308908:G295R	G	+	1	0	GPR148	131204077	0.007000	0.16637	0.002000	0.10522	0.081000	0.17604	1.942000	0.40243	0.340000	0.23745	-0.379000	0.06801	GGG		0.562	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		10	89	0	0	0	1	0	10	89				
TRIM13	10206	broad.mit.edu	37	13	50586862	50586862	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr13:50586862C>G	ENST00000378182.3	+	2	1524	c.786C>G	c.(784-786)atC>atG	p.I262M	TRIM13_ENST00000298772.5_Missense_Mutation_p.I265M|TRIM13_ENST00000457662.2_Missense_Mutation_p.I262M|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000356017.4_Missense_Mutation_p.I265M|KCNRG_ENST00000312942.1_5'Flank|TRIM13_ENST00000420995.2_Missense_Mutation_p.I262M|KCNRG_ENST00000360473.4_5'Flank	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	262					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TCAAAGTAATCAAGGAAACTC	0.403																																						ENST00000378182.3																			0				large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(784-786)atC>atG		tripartite motif containing 13							99.0	102.0	101.0					13																	50586862		2203	4300	6503	SO:0001583	missense	10206				anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:50586862C>G	AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.786C>G	13.37:g.50586862C>G	ENSP00000367424:p.Ile262Met					TRIM13_ENST00000298772.5_Missense_Mutation_p.I265M|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000420995.2_Missense_Mutation_p.I262M|TRIM13_ENST00000356017.4_Missense_Mutation_p.I265M|TRIM13_ENST00000457662.2_Missense_Mutation_p.I262M	p.I262M	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)	2	1524	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	262					B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	ENST00000378182.3	37	c.786C>G	CCDS9423.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882746	0.33255	.	.	ENSG00000204977	ENST00000378183;ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	T;T;T;T;T;T	0.26660	2.17;1.72;1.72;2.26;1.72;2.26	5.75	3.99	0.46301	.	0.113123	0.64402	D	0.000020	T	0.15912	0.0383	L	0.27053	0.805	0.37971	D	0.933288	B;P	0.36438	0.418;0.553	B;B	0.32724	0.072;0.151	T	0.13575	-1.0504	9	.	.	.	-5.9747	11.0962	0.48145	0.0:0.8006:0.1301:0.0693	.	262;265	O60858;O60858-3	TRI13_HUMAN;.	M	262;262;262;265;262;265	ENSP00000367425:I262M;ENSP00000412943:I262M;ENSP00000367424:I262M;ENSP00000348299:I265M;ENSP00000399206:I262M;ENSP00000298772:I265M	.	I	+	3	3	TRIM13	49484863	0.960000	0.32886	1.000000	0.80357	0.997000	0.91878	0.080000	0.14802	1.399000	0.46721	0.655000	0.94253	ATC		0.403	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354875.1	NM_001007278		24	90	0	0	0	1	0	24	90				
NCBP2	22916	broad.mit.edu	37	3	196669324	196669324	+	Silent	SNP	C	C	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr3:196669324C>T	ENST00000321256.5	-	1	144	c.51G>A	c.(49-51)ctG>ctA	p.L17L	NCBP2_ENST00000447325.1_5'Flank|NCBP2_ENST00000427641.2_Silent_p.L17L|NCBP2_ENST00000452404.2_5'Flank|NCBP2-AS2_ENST00000602845.1_lincRNA|NCBP2-AS1_ENST00000447775.1_RNA|NCBP2_ENST00000422610.1_5'Flank	NM_007362.3	NP_031388.2	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	17					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of RNA export from nucleus (GO:0046833)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|RNA cap binding (GO:0000339)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		GGTACTGGCTCAGCTCCACGT	0.652											OREG0016012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321256.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(49-51)ctG>ctA		nuclear cap binding protein subunit 2, 20kDa							32.0	31.0	32.0					3																	196669324		2202	4300	6502	SO:0001819	synonymous_variant	22916				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding	g.chr3:196669324C>T	D59253	CCDS3323.1, CCDS46986.1	3q29	2013-02-12	2002-08-29		ENSG00000114503	ENSG00000114503		"""RNA binding motif (RRM) containing"""	7659	protein-coding gene	gene with protein product		605133	"""nuclear cap binding protein subunit 2, 20kD"""			7478990, 7651522, 8682299	Standard	NM_001042540		Approved	NIP1, CBP20, Cbc2	uc003fxd.1	P52298	OTTHUMG00000155520	ENST00000321256.5:c.51G>A	3.37:g.196669324C>T			OREG0016012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2085	NCBP2-AS1_ENST00000447775.1_RNA|NCBP2_ENST00000427641.2_Silent_p.L17L	p.L17L	NM_007362.3	NP_031388.2	P52298	NCBP2_HUMAN	Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)	1	144	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		17					B2RE91|B4DMK7|E9PAR5|Q14924|Q2TS50	Silent	SNP	ENST00000321256.5	37	c.51G>A	CCDS3323.1																																																																																				0.652	NCBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340470.2	NM_007362		4	23	0	0	0	1	0	4	23				
NOB1	28987	broad.mit.edu	37	16	69783174	69783174	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr16:69783174G>C	ENST00000268802.5	-	5	496	c.467C>G	c.(466-468)tCc>tGc	p.S156C		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	156					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GAACATGAAGGAACTAAATTC	0.438																																						ENST00000268802.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(466-468)tCc>tGc		NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)							66.0	62.0	63.0					16																	69783174		2198	4300	6498	SO:0001583	missense	28987					nucleus	metal ion binding|protein binding	g.chr16:69783174G>C	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.467C>G	16.37:g.69783174G>C	ENSP00000268802:p.Ser156Cys						p.S156C	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN			5	496	-			156					Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Missense_Mutation	SNP	ENST00000268802.5	37	c.467C>G	CCDS10884.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681295	0.68042	.	.	ENSG00000141101	ENST00000268802	T	0.34472	1.36	4.65	4.65	0.58169	.	0.163488	0.53938	D	0.000045	T	0.46870	0.1415	L	0.29908	0.895	0.58432	D	0.999995	D	0.89917	1.0	D	0.66847	0.947	T	0.30995	-0.9959	9	.	.	.	.	17.6767	0.88232	0.0:0.0:1.0:0.0	.	156	Q9ULX3	NOB1_HUMAN	C	156	ENSP00000268802:S156C	.	S	-	2	0	NOB1	68340675	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.467000	0.60155	2.578000	0.87016	0.650000	0.86243	TCC		0.438	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		16	116	0	0	0	1	0	16	116				
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		ACTCACTGACATCGAAGGCTG	0.632																																						ENST00000414583.2																			0																																																			29774							g.chr22:24659591A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659591A>G								NR_003714.1						0	3116	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		5	30	0	0	0	1	0	5	30				
ZFP64	55734	broad.mit.edu	37	20	50769807	50769807	+	Silent	SNP	G	G	A	rs143459892		TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr20:50769807G>A	ENST00000216923.4	-	6	1273	c.924C>T	c.(922-924)atC>atT	p.I308I	ZFP64_ENST00000371515.4_Silent_p.I306I|ZFP64_ENST00000346617.4_Silent_p.I254I|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CGCTGTGCTTGATACGGATGT	0.572																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(922-924)atC>atT		ZFP64 zinc finger protein		G	,,,	1,4405	2.1+/-5.4	0,1,2202	136.0	123.0	128.0		924,762,918,	5.9	1.0	20	dbSNP_134	128	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,intron	ZFP64	NM_018197.2,NM_022088.4,NM_199426.1,NM_199427.2	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	308/682,254/628,306/680,	50769807	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769807G>A	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.924C>T	20.37:g.50769807G>A						ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Silent_p.I254I|ZFP64_ENST00000371515.4_Silent_p.I306I	p.I308I	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			6	1273	-			308					Q9NTS7|Q9NVH4	Silent	SNP	ENST00000216923.4	37	c.924C>T	CCDS13440.1																																																																																				0.572	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		14	111	0	0	0	1	0	14	111				
ORAI1	84876	broad.mit.edu	37	12	122079387	122079387	+	Silent	SNP	G	G	C			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr12:122079387G>C	ENST00000330079.7	+	2	943	c.750G>C	c.(748-750)ctG>ctC	p.L250L		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	248					blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		CCTTCGGCCTGATCTTTATCG	0.632																																						ENST00000330079.7																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11						c.(748-750)ctG>ctC		ORAI calcium release-activated calcium modulator 1							69.0	84.0	79.0					12																	122079387		2185	4274	6459	SO:0001819	synonymous_variant	84876				platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr12:122079387G>C	AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.750G>C	12.37:g.122079387G>C							p.L250L	NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)	2	943	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		248					Q3MHV3|Q6DHX2|Q96BP7|Q96K71	Silent	SNP	ENST00000330079.7	37	c.750G>C	CCDS41851.1																																																																																				0.632	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790		22	79	0	0	0	1	0	22	79				
NBPF18P	441908	broad.mit.edu	37	1	151992794	151992794	+	RNA	SNP	T	T	C			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:151992794T>C	ENST00000432386.1	+	0	2459					NR_103561.1				neuroblastoma breakpoint family, member 18, pseudogene																		GCAGAGCAGCTTGGGCAAGCT	0.527																																						ENST00000432386.1																			0																																																			441908							g.chr1:151992794T>C			1q21.3	2013-01-17	2011-04-15			ENSG00000229021		"""neuroblastoma breakpoint family"""	31998	pseudogene	pseudogene						16079250	Standard	NR_103561		Approved						1.37:g.151992794T>C								NR_103561.1						0	2459	+									RNA	SNP	ENST00000432386.1	37																																																																																						0.527	NBPF18P-001	KNOWN	basic	antisense	antisense	OTTHUMT00000036629.1			57	145	0	0	0	1	0	57	145				
CEP55	55165	broad.mit.edu	37	10	95276763	95276763	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr10:95276763G>A	ENST00000371485.3	+	6	1055	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	251					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				TCTTGAGGTTGAACGACAAAC	0.358																																						ENST00000371485.3																			0				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13						c.(751-753)Gaa>Aaa		centrosomal protein 55kDa							74.0	73.0	73.0					10																	95276763		2203	4300	6503	SO:0001583	missense	55165				cell division|mitosis	centriole|cleavage furrow|midbody		g.chr10:95276763G>A	AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.751G>A	10.37:g.95276763G>A	ENSP00000360540:p.Glu251Lys						p.E251K	NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN			6	1055	+		Colorectal(252;0.207)	251					B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	37	c.751G>A	CCDS7428.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447810	0.84101	.	.	ENSG00000138180	ENST00000371485;ENST00000358339	T	0.24538	1.85	5.74	4.84	0.62591	.	0.046465	0.85682	D	0.000000	T	0.31857	0.0810	M	0.62723	1.935	0.50467	D	0.999873	P	0.48294	0.908	B	0.44224	0.444	T	0.07481	-1.0770	10	0.25751	T	0.34	-16.2146	16.8281	0.85936	0.0:0.1287:0.8713:0.0	.	251	Q53EZ4	CEP55_HUMAN	K	251	ENSP00000360540:E251K	ENSP00000351102:E251K	E	+	1	0	CEP55	95266753	1.000000	0.71417	0.997000	0.53966	0.937000	0.57800	3.731000	0.55013	1.416000	0.47057	0.561000	0.74099	GAA		0.358	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131		11	92	0	0	0	1	0	11	92				
UGT3A1	133688	broad.mit.edu	37	5	35991318	35991318	+	Silent	SNP	G	G	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr5:35991318G>A	ENST00000274278.3	-	1	382	c.25C>T	c.(25-27)Cta>Tta	p.L9L	UGT3A1_ENST00000333811.4_Intron|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Silent_p.L9L|UGT3A1_ENST00000507113.1_Silent_p.L9L	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	9						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGGCCACTAGAAGCAGCACC	0.602																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(25-27)Cta>Tta		UDP glycosyltransferase 3 family, polypeptide A1							98.0	97.0	97.0					5																	35991318		2203	4300	6503	SO:0001819	synonymous_variant	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35991318G>A		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.25C>T	5.37:g.35991318G>A						UGT3A1_ENST00000333811.4_Intron|UGT3A1_ENST00000503189.1_Silent_p.L9L|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Silent_p.L9L	p.L9L	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		1	382	-	all_lung(31;0.000197)		9					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Silent	SNP	ENST00000274278.3	37	c.25C>T	CCDS3913.1																																																																																				0.602	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		21	151	0	0	0	1	0	21	151				
DHX37	57647	broad.mit.edu	37	12	125455922	125455922	+	Missense_Mutation	SNP	C	C	T	rs139345740		TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr12:125455922C>T	ENST00000308736.2	-	8	1215	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K	DHX37_ENST00000544745.1_Missense_Mutation_p.E160K	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	373	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TCGTGGGCCTCGTCGATGATC	0.657																																						ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(1117-1119)Gag>Aag		DEAH (Asp-Glu-Ala-His) box polypeptide 37		C	LYS/GLU	0,4406		0,0,2203	79.0	56.0	63.0		1117	5.2	1.0	12	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	missense	DHX37	NM_032656.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	373/1158	125455922	1,13005	2203	4300	6503	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125455922C>T	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.1117G>A	12.37:g.125455922C>T	ENSP00000311135:p.Glu373Lys					DHX37_ENST00000544745.1_Missense_Mutation_p.E160K	p.E373K	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	8	1215	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		373			Helicase ATP-binding.		Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.1117G>A	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	36	5.793480	0.96952	0.0	1.16E-4	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.62498	0.02;0.02	5.22	5.22	0.72569	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.049038	0.85682	D	0.000000	D	0.90549	0.7038	H	0.99971	5.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95521	0.8594	10	0.87932	D	0	-9.3274	18.4206	0.90588	0.0:1.0:0.0:0.0	.	373	Q8IY37	DHX37_HUMAN	K	373;160	ENSP00000311135:E373K;ENSP00000439009:E160K	ENSP00000311135:E373K	E	-	1	0	DHX37	124021875	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.675000	0.84002	2.446000	0.82766	0.555000	0.69702	GAG		0.657	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		4	34	0	0	0	1	0	4	34				
CCR3	1232	broad.mit.edu	37	3	46307214	46307214	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr3:46307214G>C	ENST00000357422.2	+	4	1108	c.565G>C	c.(565-567)Gag>Cag	p.E189Q	CCR3_ENST00000395942.2_Missense_Mutation_p.E189Q|CCR3_ENST00000545097.1_Missense_Mutation_p.E210Q|CCR3_ENST00000395940.2_Missense_Mutation_p.E189Q|CCR3_ENST00000541018.1_Missense_Mutation_p.E189Q			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	189					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TCTTTACCCAGAGGATACAGT	0.478																																						ENST00000357422.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18						c.(565-567)Gag>Cag		chemokine (C-C motif) receptor 3							88.0	92.0	91.0					3																	46307214		2202	4300	6502	SO:0001583	missense	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46307214G>C	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.565G>C	3.37:g.46307214G>C	ENSP00000350003:p.Glu189Gln					CCR3_ENST00000541018.1_Missense_Mutation_p.E189Q|CCR3_ENST00000395940.2_Missense_Mutation_p.E189Q|CCR3_ENST00000395942.2_Missense_Mutation_p.E189Q|CCR3_ENST00000545097.1_Missense_Mutation_p.E210Q	p.E189Q			P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	1108	+			189					B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	c.565G>C	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.415275	0.01136	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	5.86	-0.242	0.13039	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.30198	0.0757	L	0.53729	1.69	0.09310	N	1	B;B	0.14805	0.011;0.001	B;B	0.18263	0.02;0.021	T	0.30446	-0.9978	9	0.22109	T	0.4	.	9.1879	0.37182	0.2347:0.3076:0.4578:0.0	.	210;189	F5GWL6;P51677	.;CCR3_HUMAN	Q	189;210;189;189;189	ENSP00000350003:E189Q;ENSP00000441600:E210Q;ENSP00000440097:E189Q;ENSP00000379271:E189Q;ENSP00000379273:E189Q	ENSP00000350003:E189Q	E	+	1	0	CCR3	46282218	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.264000	0.08658	-0.662000	0.05338	-0.795000	0.03280	GAG		0.478	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			15	98	0	0	0	1	0	15	98				
GOLGA7B	401647	broad.mit.edu	37	10	99623815	99623815	+	Silent	SNP	C	C	G			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr10:99623815C>G	ENST00000370602.1	+	3	332	c.267C>G	c.(265-267)ctC>ctG	p.L89L		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	89						Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|prostate(1)	5						TCATCTTCCTCTGCATGGAGA	0.617																																						ENST00000370602.1																			0				endometrium(1)|large_intestine(3)|prostate(1)	5						c.(265-267)ctC>ctG		golgin A7 family, member B							48.0	50.0	50.0					10																	99623815		2203	4300	6503	SO:0001819	synonymous_variant	401647					Golgi membrane		g.chr10:99623815C>G	BC008047	CCDS31265.1	10q24.2	2011-10-25	2010-02-12	2008-10-03	ENSG00000155265	ENSG00000155265			31668	protein-coding gene	gene with protein product		614189	"""chromosome 10 open reading frame 133"", ""chromosome 10 open reading frame 132"", ""golgi autoantigen, golgin subfamily a, 7B"""	C10orf133, C10orf132			Standard	NM_001010917		Approved	bA459F3.4, bA451M19.3	uc001kos.3	Q2TAP0	OTTHUMG00000018869	ENST00000370602.1:c.267C>G	10.37:g.99623815C>G							p.L89L	NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN			3	332	+			89					Q5T4F5	Silent	SNP	ENST00000370602.1	37	c.267C>G	CCDS31265.1																																																																																				0.617	GOLGA7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049752.1	NM_001010917		8	84	0	0	0	1	0	8	84				
OR1M1	125963	broad.mit.edu	37	19	9203973	9203973	+	Nonsense_Mutation	SNP	C	C	G	rs561502650		TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr19:9203973C>G	ENST00000429566.3	+	1	119	c.53C>G	c.(52-54)tCa>tGa	p.S18*		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTGGGACTCTCAGAAAAGCCA	0.498													c|||	1	0.000199681	0.0008	0.0	5008	,	,		15774	0.0		0.0	False		,,,				2504	0.0					ENST00000429566.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(52-54)tCa>tGa		olfactory receptor, family 1, subfamily M, member 1							103.0	92.0	95.0					19																	9203973		2203	4300	6503	SO:0001587	stop_gained	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9203973C>G		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.53C>G	19.37:g.9203973C>G	ENSP00000401966:p.Ser18*						p.S18*	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	119	+			18					B9EHA6|Q6IFJ3|Q96R91	Nonsense_Mutation	SNP	ENST00000429566.3	37	c.53C>G	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	c	17.94	3.511394	0.64522	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	.	.	.	3.49	2.43	0.29744	.	0.614874	0.14508	N	0.315311	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.9968	0.41905	0.0:0.8953:0.0:0.1047	.	.	.	.	X	21;18	.	ENSP00000303195:S21X	S	+	2	0	OR1M1	9064973	0.001000	0.12720	0.018000	0.16275	0.134000	0.20937	1.052000	0.30429	0.798000	0.33994	0.400000	0.26472	TCA		0.498	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			11	77	0	0	0	1	0	11	77				
POLB	5423	broad.mit.edu	37	8	42229169	42229169	+	Silent	SNP	C	C	T	rs200881222		TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr8:42229169C>T	ENST00000265421.4	+	14	1172	c.1002C>T	c.(1000-1002)agC>agT	p.S334S	POLB_ENST00000521492.1_Silent_p.S53S|POLB_ENST00000538005.1_Silent_p.S180S	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	334					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	AGGACCGGAGCGAATGAGGCC	0.448								DNA polymerases (catalytic subunits)																														ENST00000265421.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16						c.(1000-1002)agC>agT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), beta	Cytarabine(DB00987)						48.0	49.0	49.0					8																	42229169		2203	4300	6503	SO:0001819	synonymous_variant	5423				DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding	g.chr8:42229169C>T		CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"""DNA polymerases"""	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.1002C>T	8.37:g.42229169C>T						POLB_ENST00000538005.1_Silent_p.S180S|POLB_ENST00000521492.1_Silent_p.S53S	p.S334S	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		14	1172	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	334					B2RC78|Q3KP48|Q6FI34	Silent	SNP	ENST00000265421.4	37	c.1002C>T	CCDS6129.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303270	0.23736	.	.	ENSG00000070501	ENST00000521290;ENST00000518579;ENST00000517393	.	.	.	5.93	-1.16	0.09678	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.1051	15.8105	0.78561	0.0:0.826:0.0:0.174	.	.	.	.	X	236;215;82	.	.	R	+	1	2	POLB	42348326	0.810000	0.29049	0.898000	0.35279	0.461000	0.32589	-0.033000	0.12246	-0.582000	0.05929	-1.463000	0.01021	CGA		0.448	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690		4	44	0	0	0	1	0	4	44				
NLRP1	22861	broad.mit.edu	37	17	5445209	5445209	+	Silent	SNP	C	C	G			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr17:5445209C>G	ENST00000572272.1	-	6	2666	c.2667G>C	c.(2665-2667)ctG>ctC	p.L889L	NLRP1_ENST00000262467.5_Silent_p.L889L|NLRP1_ENST00000577119.1_Silent_p.L889L|NLRP1_ENST00000354411.3_Silent_p.L889L|NLRP1_ENST00000269280.4_Silent_p.L889L|NLRP1_ENST00000345221.3_Silent_p.L889L|NLRP1_ENST00000571307.1_5'UTR			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	889					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCGGCTGTCTCAGTCTCTGGC	0.587																																						ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2665-2667)ctG>ctC		NLR family, pyrin domain containing 1							101.0	82.0	88.0					17																	5445209		2203	4300	6503	SO:0001819	synonymous_variant	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5445209C>G	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2667G>C	17.37:g.5445209C>G						NLRP1_ENST00000269280.4_Silent_p.L889L|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Silent_p.L889L|NLRP1_ENST00000577119.1_Silent_p.L889L|NLRP1_ENST00000572272.1_Silent_p.L889L|NLRP1_ENST00000262467.5_Silent_p.L889L	p.L889L	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			6	3221	-		Colorectal(1115;3.48e-05)	889					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	37	c.2667G>C	CCDS42246.1																																																																																				0.587	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		5	59	0	0	0	1	0	5	59				
TAF4	6874	broad.mit.edu	37	20	60587884	60587884	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr20:60587884G>A	ENST00000252996.4	-	3	1627	c.1628C>T	c.(1627-1629)tCg>tTg	p.S543L	TAF4_ENST00000609045.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	543					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GACGCCGGGCGAGCGCTGCAG	0.577																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(1627-1629)tCg>tTg		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							85.0	88.0	87.0					20																	60587884		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60587884G>A	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1628C>T	20.37:g.60587884G>A	ENSP00000252996:p.Ser543Leu						p.S543L	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		3	1627	-	Breast(26;1e-08)		543					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.1628C>T	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545957	0.45280	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.23950	1.88;1.89	4.68	4.68	0.58851	.	0.063724	0.64402	D	0.000006	T	0.16171	0.0389	L	0.34521	1.04	0.43168	D	0.994967	P	0.48998	0.918	B	0.33521	0.165	T	0.09952	-1.0651	10	0.09843	T	0.71	-14.2971	17.5658	0.87919	0.0:0.0:1.0:0.0	.	543	O00268	TAF4_HUMAN	L	543;407	ENSP00000252996:S543L;ENSP00000399091:S407L	ENSP00000252996:S543L	S	-	2	0	TAF4	60021279	1.000000	0.71417	0.927000	0.36925	0.488000	0.33401	8.613000	0.90913	2.151000	0.67156	0.462000	0.41574	TCG		0.577	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		20	128	0	0	0	1	0	20	128				
C5orf38	153571	broad.mit.edu	37	5	2755183	2755183	+	3'UTR	SNP	C	C	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr5:2755183C>T	ENST00000334000.3	+	0	562				IRX2_ENST00000502957.1_5'Flank|C5orf38_ENST00000505778.1_3'UTR|C5orf38_ENST00000457752.2_3'UTR|C5orf38_ENST00000397835.4_Missense_Mutation_p.S125L	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38							extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		ACGCAAGTTTCAGCGAGCGGG	0.582																																						ENST00000397835.4																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(373-375)tCa>tTa		chromosome 5 open reading frame 38							66.0	75.0	72.0					5																	2755183		2203	4300	6503	SO:0001624	3_prime_UTR_variant	153571					extracellular region		g.chr5:2755183C>T	AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"""coordinated expression to IRX2"", ""IRX2 neighbor"""	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.*28C>T	5.37:g.2755183C>T						C5orf38_ENST00000334000.3_3'UTR|C5orf38_ENST00000457752.2_3'UTR|C5orf38_ENST00000505778.1_3'UTR	p.S125L			Q86SI9	CEI_HUMAN		GBM - Glioblastoma multiforme(108;0.205)	3	374	+			0						Missense_Mutation	SNP	ENST00000334000.3	37	c.374C>T	CCDS34131.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781808	0.31502	.	.	ENSG00000186493	ENST00000397835	.	.	.	2.79	-0.122	0.13531	.	.	.	.	.	T	0.34483	0.0899	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37596	-0.9699	5	0.87932	D	0	.	2.5011	0.04633	0.4552:0.3493:0.0:0.1954	.	.	.	.	L	125	.	ENSP00000380935:S125L	S	+	2	0	C5orf38	2808183	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.095000	0.15127	-0.027000	0.13873	0.561000	0.74099	TCA		0.582	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365956.2	NM_178569		16	208	0	0	0	1	0	16	208				
ACOXL	55289	broad.mit.edu	37	2	111666438	111666438	+	Silent	SNP	G	G	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr2:111666438G>A	ENST00000389811.4	+	11	1085	c.861G>A	c.(859-861)ctG>ctA	p.L287L	ACOXL_ENST00000439055.1_Silent_p.L287L			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	287					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CCCTGCGGCTGATGCCCCACC	0.547																																						ENST00000389811.4																			0				kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						c.(859-861)ctG>ctA		acyl-CoA oxidase-like							101.0	95.0	97.0					2																	111666438		2203	4300	6503	SO:0001819	synonymous_variant	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111666438G>A		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.861G>A	2.37:g.111666438G>A						ACOXL_ENST00000439055.1_Silent_p.L287L	p.L287L			Q9NUZ1	ACOXL_HUMAN			11	1085	+			287					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Silent	SNP	ENST00000389811.4	37	c.861G>A																																																																																					0.547	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		12	120	0	0	0	1	0	12	120				
ADAMTSL1	92949	broad.mit.edu	37	9	18753367	18753367	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr9:18753367G>A	ENST00000380548.4	+	16	2417	c.2078G>A	c.(2077-2079)tGc>tAc	p.C693Y		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	693	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GACGTCTTCTGCAGCCACCTG	0.532																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(2077-2079)tGc>tAc		ADAMTS-like 1							66.0	64.0	64.0					9																	18753367		2030	4200	6230	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18753367G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2078G>A	9.37:g.18753367G>A	ENSP00000369921:p.Cys693Tyr						p.C693Y	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	16	2417	+			693			TSP type-1 6.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.2078G>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245399	0.80024	.	.	ENSG00000178031	ENST00000380548	T	0.69040	-0.37	5.85	5.85	0.93711	.	0.372159	0.12371	U	0.474747	D	0.91074	0.7191	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92907	0.6344	10	0.87932	D	0	.	20.1577	0.98120	0.0:0.0:1.0:0.0	.	693	Q8N6G6	ATL1_HUMAN	Y	693	ENSP00000369921:C693Y	ENSP00000369921:C693Y	C	+	2	0	ADAMTSL1	18743367	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	8.735000	0.91549	2.767000	0.95098	0.655000	0.94253	TGC		0.532	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			7	18	0	0	0	1	0	7	18				
ACP6	51205	broad.mit.edu	37	1	147124425	147124425	+	Intron	SNP	T	T	G			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:147124425T>G	ENST00000369238.6	-	7	1228				ACP6_ENST00000392988.2_Missense_Mutation_p.H269P|ACP6_ENST00000460583.1_5'Flank	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic						dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					TCAGCTTCCATGGAACCTGCA	0.483																																						ENST00000392988.2																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16						c.(805-807)cAt>cCt		acid phosphatase 6, lysophosphatidic							88.0	85.0	86.0					1																	147124425		876	1991	2867	SO:0001627	intron_variant	51205				lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding	g.chr1:147124425T>G	BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.781-73A>C	1.37:g.147124425T>G						ACP6_ENST00000369238.5_Intron	p.H269P			Q9NPH0	PPA6_HUMAN			7	999	-	all_hematologic(923;0.0276)		0					Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Missense_Mutation	SNP	ENST00000369238.6	37	c.806A>C	CCDS928.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.484619	0.26598	.	.	ENSG00000162836	ENST00000392988	T	0.44482	0.92	4.36	-3.0	0.05480	.	.	.	.	.	T	0.08980	0.0222	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30238	-0.9985	8	0.56958	D	0.05	.	0.9453	0.01364	0.154:0.2758:0.1571:0.4131	.	269	Q9NPH0-2	.	P	269	ENSP00000376714:H269P	ENSP00000376714:H269P	H	-	2	0	ACP6	145591049	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.449000	0.01008	-0.642000	0.05480	0.533000	0.62120	CAT		0.483	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	NM_016361		10	71	0	0	0	1	0	10	71				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261731	39261731	+	Missense_Mutation	SNP	G	G	C	rs369890328	byFrequency	TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr17:39261731G>C	ENST00000391415.1	+	1	148	c.91G>C	c.(91-93)Gag>Cag	p.E31Q		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	31	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.E31Q(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CAGCTGCTGTGAGACCACCTG	0.637													G|||	8	0.00159744	0.0015	0.0	5008	,	,		17461	0.0		0.001	False		,,,				2504	0.0051					ENST00000391415.1																			1	Substitution - Missense(1)	p.E31Q(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(91-93)Gag>Cag		keratin associated protein 4-9							16.0	22.0	20.0					17																	39261731		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261731G>C	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.91G>C	17.37:g.39261731G>C	ENSP00000375234:p.Glu31Gln						p.E31Q	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	148	+			31			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Missense_Mutation	SNP	ENST00000391415.1	37	c.91G>C	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.121653	0.00346	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.26518	1.73	3.31	-2.91	0.05631	.	.	.	.	.	T	0.02727	0.0082	N	0.00020	-2.78	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45425	-0.9262	9	0.02654	T	1	.	7.3216	0.26531	0.2761:0.3069:0.4171:0.0	.	31	Q9BYQ8	KRA49_HUMAN	Q	31	ENSP00000375234:E31Q	ENSP00000334461:E31Q	E	+	1	0	KRTAP4-9	36515257	0.000000	0.05858	0.038000	0.18304	0.335000	0.28730	-1.734000	0.01848	-0.249000	0.09569	-1.188000	0.01700	GAG		0.637	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		4	69	0	0	0	1	0	4	69				
SLIT1	6585	broad.mit.edu	37	10	98808826	98808826	+	Missense_Mutation	SNP	C	C	T	rs140404931	byFrequency	TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr10:98808826C>T	ENST00000266058.4	-	14	1596	c.1351G>A	c.(1351-1353)Gca>Aca	p.A451T	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.A451T	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	451	LRRCT 2.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		AGGAAGTCTGCCAGCCACTTG	0.592																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1351-1353)Gca>Aca		slit homolog 1 (Drosophila)							72.0	65.0	68.0					10																	98808826		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98808826C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1351G>A	10.37:g.98808826C>T	ENSP00000266058:p.Ala451Thr					SLIT1_ENST00000371070.4_Missense_Mutation_p.A451T|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	p.A451T	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	14	1596	-		Colorectal(252;0.162)	451			LRRCT 2.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.1351G>A	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	35	5.549873	0.96501	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	T;T;T	0.52754	1.92;1.92;0.65	5.14	5.14	0.70334	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69187	0.3083	M	0.79343	2.45	0.80722	D	1	D;P	0.55385	0.971;0.795	D;B	0.63033	0.91;0.29	T	0.73154	-0.4072	10	0.87932	D	0	.	18.7937	0.91985	0.0:1.0:0.0:0.0	.	461;451	E7EWQ8;O75093	.;SLIT1_HUMAN	T	451;461;451;444	ENSP00000266058:A451T;ENSP00000360109:A451T;ENSP00000315005:A444T	ENSP00000266058:A451T	A	-	1	0	SLIT1	98798816	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.498000	0.81546	2.662000	0.90505	0.557000	0.71058	GCA		0.592	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		4	80	0	0	0	1	0	4	80				
C3orf18	51161	broad.mit.edu	37	3	50602922	50602922	+	Missense_Mutation	SNP	G	G	A	rs113250784	byFrequency	TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr3:50602922G>A	ENST00000357203.3	-	3	748	c.209C>T	c.(208-210)aCg>aTg	p.T70M	C3orf18_ENST00000449241.1_Missense_Mutation_p.T70M|C3orf18_ENST00000486175.1_Intron|C3orf18_ENST00000426034.1_Missense_Mutation_p.T70M|C3orf18_ENST00000441239.1_Intron	NM_016210.4	NP_057294.2	Q9UK00	CC018_HUMAN	chromosome 3 open reading frame 18	70						integral component of membrane (GO:0016021)		p.T70M(1)		lung(1)|pancreas(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		GCCTATCACCGTGATGATCCC	0.532																																						ENST00000357203.3																			1	Substitution - Missense(1)	p.T70M(1)	pancreas(1)	lung(1)|pancreas(1)|skin(1)	3						c.(208-210)aCg>aTg		chromosome 3 open reading frame 18							78.0	73.0	75.0					3																	50602922		2202	4300	6502	SO:0001583	missense	51161					integral to membrane		g.chr3:50602922G>A	AF188706	CCDS2829.1, CCDS54589.1	3p21.3	2006-01-11			ENSG00000088543	ENSG00000088543			24837	protein-coding gene	gene with protein product						12477932	Standard	NM_016210		Approved	G20	uc010hlp.3	Q9UK00	OTTHUMG00000156854	ENST00000357203.3:c.209C>T	3.37:g.50602922G>A	ENSP00000349732:p.Thr70Met					C3orf18_ENST00000449241.1_Missense_Mutation_p.T70M|C3orf18_ENST00000426034.1_Missense_Mutation_p.T70M|C3orf18_ENST00000441239.1_Intron|C3orf18_ENST00000486175.1_Intron	p.T70M	NM_016210.4	NP_057294.2	Q9UK00	CC018_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)	3	748	-			70					C9JNP0	Missense_Mutation	SNP	ENST00000357203.3	37	c.209C>T	CCDS2829.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741927	0.89573	.	.	ENSG00000088543	ENST00000426034;ENST00000357203;ENST00000449241	T;T;T	0.15952	2.38;2.38;2.38	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.38612	0.1047	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.09422	-1.0675	10	0.66056	D	0.02	-17.9025	16.5863	0.84728	0.0:0.0:1.0:0.0	.	70	Q9UK00	CC018_HUMAN	M	70	ENSP00000387606:T70M;ENSP00000349732:T70M;ENSP00000404913:T70M	ENSP00000349732:T70M	T	-	2	0	C3orf18	50577926	1.000000	0.71417	0.993000	0.49108	0.906000	0.53458	8.948000	0.93006	2.457000	0.83068	0.455000	0.32223	ACG		0.532	C3orf18-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346260.2	NM_016210		9	28	0	0	0	1	0	9	28				
GOLIM4	27333	broad.mit.edu	37	3	167750483	167750483	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr3:167750483T>C	ENST00000470487.1	-	9	1690	c.1001A>G	c.(1000-1002)cAg>cGg	p.Q334R	GOLIM4_ENST00000309027.4_Missense_Mutation_p.Q306R	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	334	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTTCCACCTGATGCTCCTC	0.537																																						ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1000-1002)cAg>cGg		golgi integral membrane protein 4							165.0	155.0	158.0					3																	167750483		2203	4300	6503	SO:0001583	missense	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167750483T>C	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1001A>G	3.37:g.167750483T>C	ENSP00000417354:p.Gln334Arg					GOLIM4_ENST00000309027.4_Missense_Mutation_p.Q306R	p.Q334R	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN			9	1690	-			334			Glu-rich.			Missense_Mutation	SNP	ENST00000470487.1	37	c.1001A>G	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760005	0.69763	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.11	2.69	0.31865	.	0.426058	0.28135	N	0.016468	T	0.55000	0.1893	M	0.65975	2.015	0.35799	D	0.82297	P;P	0.44776	0.843;0.715	P;P	0.50082	0.63;0.552	T	0.58200	-0.7678	9	0.27082	T	0.32	-4.115	7.611	0.28131	0.0:0.075:0.1415:0.7835	.	306;334	F8W785;O00461	.;GOLI4_HUMAN	R	334;306	.	ENSP00000309893:Q306R	Q	-	2	0	GOLIM4	169233177	0.097000	0.21791	0.846000	0.33378	0.884000	0.51177	0.400000	0.20932	0.287000	0.22375	0.369000	0.22263	CAG		0.537	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			4	128	0	0	0	1	0	4	128				
FKBP11	51303	broad.mit.edu	37	12	49318025	49318025	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr12:49318025G>C	ENST00000550765.1	-	4	696	c.298C>G	c.(298-300)Ctt>Gtt	p.L100V	FKBP11_ENST00000444214.2_5'UTR|AC073610.5_ENST00000537495.1_Intron|FKBP11_ENST00000552878.1_Missense_Mutation_p.L100V|FKBP11_ENST00000453172.2_Missense_Mutation_p.L100V|RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Intron	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	100	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(3)|lung(1)	5						ATGTCGAGAAGACTCTGCTCC	0.527																																						ENST00000550765.1																			0				kidney(1)|large_intestine(3)|lung(1)	5						c.(298-300)Ctt>Gtt		FK506 binding protein 11, 19 kDa							146.0	109.0	122.0					12																	49318025		2203	4300	6503	SO:0001583	missense	51303				protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr12:49318025G>C	AF238079	CCDS8773.1, CCDS44870.1, CCDS44871.1	12q13.12	2008-08-04	2002-08-29			ENSG00000134285			18624	protein-coding gene	gene with protein product		610571	"""FK506 binding protein 11 (19 kDa)"""			12036304, 16596453	Standard	NM_016594		Approved	FKBP19	uc001rsp.3	Q9NYL4		ENST00000550765.1:c.298C>G	12.37:g.49318025G>C	ENSP00000449751:p.Leu100Val					CCDC65_ENST00000266984.5_Intron|FKBP11_ENST00000453172.2_Missense_Mutation_p.L100V|FKBP11_ENST00000444214.2_5'UTR|ARF3_ENST00000398092.4_Intron|FKBP11_ENST00000552878.1_Missense_Mutation_p.L100V|AC073610.5_ENST00000537495.1_Intron	p.L100V	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN			4	696	-			100			PPIase FKBP-type.		B4DWB7	Missense_Mutation	SNP	ENST00000550765.1	37	c.298C>G	CCDS8773.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272591	0.40194	.	.	ENSG00000134285	ENST00000550765;ENST00000552878;ENST00000453172	T;T;T	0.62498	0.02;0.02;0.02	4.56	4.56	0.56223	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.64402	D	0.000001	T	0.67002	0.2847	L	0.33485	1.01	0.58432	D	0.999992	P;D	0.69078	0.565;0.997	P;D	0.85130	0.627;0.997	T	0.66101	-0.6007	10	0.42905	T	0.14	-6.6471	10.2411	0.43312	0.0931:0.0:0.9069:0.0	.	100;100	B4DWB7;Q9NYL4	.;FKB11_HUMAN	V	100	ENSP00000449751:L100V;ENSP00000447911:L100V;ENSP00000396874:L100V	ENSP00000396874:L100V	L	-	1	0	FKBP11	47604292	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.915000	0.48805	2.264000	0.75181	0.655000	0.94253	CTT		0.527	FKBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408927.1	NM_016594		5	28	0	0	0	1	0	5	28				
SPATA6	54558	broad.mit.edu	37	1	48825437	48825437	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:48825437G>C	ENST00000371847.3	-	10	1079	c.915C>G	c.(913-915)atC>atG	p.I305M	SPATA6_ENST00000396199.3_Missense_Mutation_p.I233M|SPATA6_ENST00000371843.3_Missense_Mutation_p.I305M	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	305					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GGGGTGTCCTGATAACCTGTT	0.348																																						ENST00000371847.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(913-915)atC>atG		spermatogenesis associated 6							28.0	28.0	28.0					1																	48825437		2203	4299	6502	SO:0001583	missense	54558				cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		g.chr1:48825437G>C	AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.915C>G	1.37:g.48825437G>C	ENSP00000360913:p.Ile305Met					SPATA6_ENST00000396199.3_Missense_Mutation_p.I233M|SPATA6_ENST00000371843.3_Missense_Mutation_p.I305M	p.I305M	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN			10	1079	-			305					Q5T3N7|Q8WUE6	Missense_Mutation	SNP	ENST00000371847.3	37	c.915C>G	CCDS551.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316387	0.23908	.	.	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199;ENST00000371841	T;T;T;T	0.48201	2.59;2.63;2.61;0.82	5.09	3.02	0.34903	.	0.699017	0.14812	N	0.296993	T	0.31136	0.0787	L	0.38175	1.15	0.23010	N	0.998432	B;B;B	0.15930	0.015;0.007;0.007	B;B;B	0.16289	0.015;0.006;0.006	T	0.14980	-1.0453	10	0.39692	T	0.17	.	1.3177	0.02110	0.1668:0.1803:0.4339:0.219	.	233;305;305	B4DX17;Q9NWH7-2;Q9NWH7	.;.;SPAT6_HUMAN	M	305;305;233;146	ENSP00000360913:I305M;ENSP00000360909:I305M;ENSP00000379502:I233M;ENSP00000360907:I146M	ENSP00000360907:I146M	I	-	3	3	SPATA6	48598024	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	0.737000	0.26144	1.344000	0.45657	0.591000	0.81541	ATC		0.348	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073		8	54	0	0	0	1	0	8	54				
GNA15	2769	broad.mit.edu	37	19	3163005	3163005	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr19:3163005C>G	ENST00000262958.3	+	7	1371	c.1113C>G	c.(1111-1113)atC>atG	p.I371M		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	371					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		TGGACGAGATCAACCTGCTGT	0.652											OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262958.3																			0				large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1111-1113)atC>atG		guanine nucleotide binding protein (G protein), alpha 15 (Gq class)							66.0	57.0	60.0					19																	3163005		2203	4300	6503	SO:0001583	missense	2769				activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3163005C>G		CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.1113C>G	19.37:g.3163005C>G	ENSP00000262958:p.Ile371Met		OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	609		p.I371M	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)	7	1371	+		Hepatocellular(1079;0.137)	371					E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	37	c.1113C>G	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	c	17.27	3.347133	0.61183	.	.	ENSG00000060558	ENST00000262958	D	0.88354	-2.37	3.9	3.9	0.45041	.	0.169087	0.38005	N	0.001859	D	0.84995	0.5596	N	0.17564	0.495	0.30400	N	0.78008	P	0.51147	0.942	P	0.50860	0.652	D	0.84634	0.0691	10	0.72032	D	0.01	.	13.4115	0.60946	0.0:1.0:0.0:0.0	.	371	P30679	GNA15_HUMAN	M	371	ENSP00000262958:I371M	ENSP00000262958:I371M	I	+	3	3	GNA15	3114005	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	2.732000	0.47352	2.001000	0.58596	0.491000	0.48974	ATC		0.652	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068		6	38	0	0	0	1	0	6	38				
SMCHD1	23347	broad.mit.edu	37	18	2775763	2775763	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr18:2775763G>C	ENST00000320876.6	+	42	5545	c.5207G>C	c.(5206-5208)aGa>aCa	p.R1736T	SMCHD1_ENST00000261598.8_Missense_Mutation_p.R1736T|snoU13_ENST00000459147.1_RNA|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1736					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GAAGATGATAGAGCTGCGATG	0.353																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(5206-5208)aGa>aCa		structural maintenance of chromosomes flexible hinge domain containing 1							97.0	90.0	92.0					18																	2775763		1882	4114	5996	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2775763G>C	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.5207G>C	18.37:g.2775763G>C	ENSP00000326603:p.Arg1736Thr					SMCHD1_ENST00000261598.8_Missense_Mutation_p.R1736T|RP11-703M24.5_ENST00000583546.1_RNA	p.R1736T	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			42	5545	+			1736					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.5207G>C	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782865	0.49891	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	D;D	0.85955	-2.05;-2.05	5.28	3.08	0.35506	SMCs flexible hinge (3);	0.329472	0.35040	N	0.003500	T	0.66237	0.2769	N	0.08118	0	0.32900	D	0.513011	P	0.35226	0.491	B	0.36959	0.237	T	0.66472	-0.5915	10	0.22706	T	0.39	-19.0676	4.363	0.11211	0.4625:0.0:0.5375:0.0	.	1736	A6NHR9	SMHD1_HUMAN	T	1736	ENSP00000326603:R1736T;ENSP00000261598:R1736T	ENSP00000261598:R1736T	R	+	2	0	SMCHD1	2765763	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.371000	0.52379	1.352000	0.45808	0.591000	0.81541	AGA		0.353	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			28	81	0	0	0	1	0	28	81				
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_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_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_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		3	8	0	0	0	1	0	3	8				
HARBI1	283254	broad.mit.edu	37	11	46625092	46625092	+	Silent	SNP	A	A	G			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr11:46625092A>G	ENST00000326737.3	-	3	1285	c.1038T>C	c.(1036-1038)acT>acC	p.T346T		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	346						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						AGCTAAAATGAGTGAGCATTA	0.493																																						ENST00000326737.3																			0				large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						c.(1036-1038)acT>acC		harbinger transposase derived 1							91.0	89.0	90.0					11																	46625092		2201	4299	6500	SO:0001819	synonymous_variant	283254					cytoplasm|nucleus	metal ion binding|nuclease activity	g.chr11:46625092A>G	AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"""chromosome 11 open reading frame 77"""	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.1038T>C	11.37:g.46625092A>G							p.T346T	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN			3	1285	-			346					D3DQP9	Silent	SNP	ENST00000326737.3	37	c.1038T>C	CCDS7920.1																																																																																				0.493	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	NM_173811		14	93	0	0	0	1	0	14	93				
PCDH15	65217	broad.mit.edu	37	10	55782741	55782741	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr10:55782741C>T	ENST00000320301.6	-	19	2831	c.2437G>A	c.(2437-2439)Gat>Aat	p.D813N	PCDH15_ENST00000395438.1_Missense_Mutation_p.D813N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D813N|PCDH15_ENST00000395432.2_Missense_Mutation_p.D776N|PCDH15_ENST00000395430.1_Missense_Mutation_p.D813N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D791N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.D820N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.D424N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D820N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.D742N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D818N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D813N	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	813	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTGTTATCATCAATGTCCAAA	0.443										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(2458-2460)Gat>Aat		protocadherin-related 15							196.0	175.0	182.0					10																	55782741		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55782741C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2437G>A	10.37:g.55782741C>T	ENSP00000322604:p.Asp813Asn	HNSCC(58;0.16)				PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.D791N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D818N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.D742N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.D776N|PCDH15_ENST00000409834.1_Missense_Mutation_p.D424N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D820N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D813N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D813N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D813N|PCDH15_ENST00000395430.1_Missense_Mutation_p.D813N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D813N	p.D820N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			20	2852	-		Melanoma(3;0.117)|Lung SC(717;0.238)	813			Cadherin 8.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2458G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463419	0.43736	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T	0.06218	3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33;3.33	5.67	5.67	0.87782	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.04543	0.0124	N	0.00075	-2.25	0.58432	D	0.999998	D;P;P;B;P;P;D;B;P;B;B;P;B;P	0.71674	0.998;0.709;0.709;0.015;0.941;0.709;0.998;0.219;0.709;0.27;0.303;0.546;0.327;0.506	D;B;B;B;P;B;D;B;B;B;B;B;B;B	0.83275	0.996;0.217;0.217;0.029;0.638;0.39;0.996;0.079;0.217;0.147;0.085;0.255;0.17;0.217	T	0.71447	-0.4590	9	0.15066	T	0.55	.	19.7308	0.96181	0.0:1.0:0.0:0.0	.	791;813;813;818;742;776;813;813;820;820;813;818;813;813	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	N	820;818;813;813;424;820;776;813;791;813;813;818;742;813	ENSP00000363076:D820N;ENSP00000410304:D818N;ENSP00000378826:D813N;ENSP00000386693:D424N;ENSP00000378832:D820N;ENSP00000378820:D776N;ENSP00000354950:D813N;ENSP00000378821:D791N;ENSP00000322604:D813N;ENSP00000378818:D813N;ENSP00000412628:D742N;ENSP00000363066:D813N	ENSP00000322604:D813N	D	-	1	0	PCDH15	55452747	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.906000	0.63293	2.833000	0.97629	0.585000	0.79938	GAT		0.443	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		22	146	0	0	0	1	0	22	146				
EML2	24139	broad.mit.edu	37	19	46133232	46133232	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr19:46133232C>G	ENST00000245925.3	-	7	633	c.583G>C	c.(583-585)Gag>Cag	p.E195Q	EML2_ENST00000586902.1_5'UTR|EML2_ENST00000536630.1_Missense_Mutation_p.E342Q|EML2_ENST00000587152.1_Missense_Mutation_p.E396Q|EML2_ENST00000589876.1_Missense_Mutation_p.E195Q	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	195	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		ACCTTGGTCTCCTTGGCCCAG	0.547																																						ENST00000536630.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(1024-1026)Gag>Cag		echinoderm microtubule associated protein like 2							208.0	129.0	156.0					19																	46133232		2203	4300	6503	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46133232C>G	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.583G>C	19.37:g.46133232C>G	ENSP00000245925:p.Glu195Gln					EML2_ENST00000586902.1_5'UTR|EML2_ENST00000589876.1_Missense_Mutation_p.E195Q|EML2_ENST00000245925.3_Missense_Mutation_p.E195Q|EML2_ENST00000587152.1_Missense_Mutation_p.E396Q	p.E342Q	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	10	1162	-		Ovarian(192;0.179)|all_neural(266;0.224)	195					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.1024G>C	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413272	0.62511	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.39592	1.07;1.07;5.03	4.74	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54549	0.1865	M	0.85945	2.785	0.58432	D	0.999999	P;P;B;P;P	0.47106	0.89;0.864;0.379;0.629;0.691	P;B;B;B;B	0.45577	0.486;0.391;0.122;0.23;0.391	T	0.65565	-0.6137	10	0.72032	D	0.01	-37.1589	15.2691	0.73686	0.0:1.0:0.0:0.0	.	195;361;342;353;195	B7Z918;B7Z3Q9;B7Z3I2;B7Z872;O95834	.;.;.;.;EMAL2_HUMAN	Q	342;195;396;353	ENSP00000442365:E342Q;ENSP00000245925:E195Q;ENSP00000382503:E353Q	ENSP00000245925:E195Q	E	-	1	0	EML2	50825072	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.142000	0.77339	2.491000	0.84063	0.305000	0.20034	GAG		0.547	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		5	49	0	0	0	1	0	5	49				
RHBDF1	64285	broad.mit.edu	37	16	112635	112635	+	Missense_Mutation	SNP	G	G	A	rs143220179		TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr16:112635G>A	ENST00000262316.6	-	7	996	c.854C>T	c.(853-855)tCg>tTg	p.S285L	RHBDF1_ENST00000454039.2_Missense_Mutation_p.S285L	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	285					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CGCTGCCTCCGATGGGGACTC	0.617																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(853-855)tCg>tTg		rhomboid 5 homolog 1 (Drosophila)		G	LEU/SER	0,4406		0,0,2203	148.0	165.0	159.0		854	4.8	0.9	16	dbSNP_134	159	1,8599		0,1,4299	no	missense	RHBDF1	NM_022450.3	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	285/856	112635	1,13005	2203	4300	6503	SO:0001583	missense	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:112635G>A	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.854C>T	16.37:g.112635G>A	ENSP00000262316:p.Ser285Leu					RHBDF1_ENST00000454039.2_Missense_Mutation_p.S285L	p.S285L	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			7	996	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	285					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.854C>T	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	20.1	3.940136	0.73557	0.0	1.16E-4	ENSG00000007384	ENST00000262316;ENST00000454039	T;T	0.64803	-0.12;-0.12	4.77	4.77	0.60923	.	0.066022	0.64402	D	0.000005	T	0.65322	0.2680	N	0.14661	0.345	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.208	D;D;B	0.76071	0.938;0.987;0.146	T	0.68800	-0.5313	10	0.44086	T	0.13	-13.9616	16.9514	0.86246	0.0:0.0:1.0:0.0	.	285;308;285	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	L	285	ENSP00000262316:S285L;ENSP00000392133:S285L	ENSP00000262316:S285L	S	-	2	0	RHBDF1	52635	1.000000	0.71417	0.939000	0.37840	0.340000	0.28889	8.943000	0.92975	2.470000	0.83445	0.462000	0.41574	TCG		0.617	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		31	284	0	0	0	1	0	31	284				
HERC1	8925	broad.mit.edu	37	15	63928252	63928252	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr15:63928252C>A	ENST00000443617.2	-	65	12409	c.12322G>T	c.(12322-12324)Gat>Tat	p.D4108Y		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4108					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TAGTCACCATCTCCCCAGCTA	0.557																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(12322-12324)Gat>Tat		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							213.0	212.0	212.0					15																	63928252		2054	4202	6256	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63928252C>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.12322G>T	15.37:g.63928252C>A	ENSP00000390158:p.Asp4108Tyr						p.D4108Y	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			65	12409	-			4108					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.12322G>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874902	0.91664	.	.	ENSG00000103657	ENST00000443617	D	0.84730	-1.89	5.58	5.58	0.84498	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.89136	0.6629	L	0.38531	1.155	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	D	0.89139	0.3515	10	0.56958	D	0.05	.	19.922	0.97089	0.0:1.0:0.0:0.0	.	4108	Q15751	HERC1_HUMAN	Y	4108	ENSP00000390158:D4108Y	ENSP00000390158:D4108Y	D	-	1	0	HERC1	61715305	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.776000	0.85560	2.780000	0.95670	0.655000	0.94253	GAT		0.557	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		44	237	1	0	1.57945e-13	1	1.7374e-13	44	237				
KANSL1L	151050	broad.mit.edu	37	2	211018364	211018364	+	Missense_Mutation	SNP	G	G	A	rs539918510		TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr2:211018364G>A	ENST00000281772.9	-	2	1206	c.943C>T	c.(943-945)Cgg>Tgg	p.R315W	KANSL1L_ENST00000457374.1_Missense_Mutation_p.R315W|KANSL1L_ENST00000429908.2_5'Flank|KANSL1L_ENST00000418791.1_Missense_Mutation_p.R315W|KANSL1L_ENST00000452086.1_Missense_Mutation_p.R315W	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	315						histone acetyltransferase complex (GO:0000123)											GCTGTACACCGTGCAAAGCCA	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		17048	0.0		0.0	False		,,,				2504	0.001					ENST00000281772.9																			0											c.(943-945)Cgg>Tgg		KAT8 regulatory NSL complex subunit 1-like							166.0	156.0	159.0					2																	211018364		2203	4300	6503	SO:0001583	missense	151050							g.chr2:211018364G>A	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.943C>T	2.37:g.211018364G>A	ENSP00000281772:p.Arg315Trp					KANSL1L_ENST00000418791.1_Missense_Mutation_p.R315W|KANSL1L_ENST00000452086.1_Missense_Mutation_p.R315W|KANSL1L_ENST00000457374.1_Missense_Mutation_p.R315W	p.R315W	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN			2	1206	-			315					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.943C>T	CCDS33370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.33|15.33	2.802255|2.802255	0.50315|0.50315	.|.	.|.	ENSG00000144445|ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086|ENST00000428655	.|.	.|.	.|.	5.95|5.95	5.0|5.0	0.66597|0.66597	.|.	1.101280|.	0.06881|.	N|.	0.802478|.	T|T	0.42337|0.42337	0.1198|0.1198	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	0.999994|0.999994	D;D;P;P|.	0.60160|.	0.987;0.987;0.956;0.956|.	B;P;P;P|.	0.50049|.	0.292;0.629;0.502;0.502|.	T|T	0.26643|0.26643	-1.0097|-1.0097	9|5	0.72032|.	D|.	0.01|.	.|.	10.4226|10.4226	0.44359|0.44359	0.0766:0.0:0.7617:0.1618|0.0766:0.0:0.7617:0.1618	.|.	315;315;315;315|.	A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9|.	.;.;.;CB067_HUMAN|.	W|M	315|9	.|.	ENSP00000281772:R315W|.	R|T	-|-	1|2	2|0	C2orf67|C2orf67	210726609|210726609	0.003000|0.003000	0.15002|0.15002	0.996000|0.996000	0.52242|0.52242	0.987000|0.987000	0.75469|0.75469	1.145000|1.145000	0.31577|0.31577	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	CGG|ACG		0.413	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		7	220	0	0	0	1	0	7	220				
RAB11FIP1	80223	broad.mit.edu	37	8	37730676	37730676	+	Silent	SNP	C	C	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr8:37730676C>T	ENST00000330843.4	-	4	1656	c.1644G>A	c.(1642-1644)gcG>gcA	p.A548A	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	548					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGTGGGTTGCGCCTCTGGAG	0.502																																						ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(1642-1644)gcG>gcA		RAB11 family interacting protein 1 (class I)							62.0	49.0	53.0					8																	37730676		2203	4298	6501	SO:0001819	synonymous_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37730676C>T	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1644G>A	8.37:g.37730676C>T						RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron	p.A548A	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	1656	-		Lung NSC(58;0.118)|all_lung(54;0.195)	548					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	c.1644G>A	CCDS34882.1																																																																																				0.502	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		13	85	0	0	0	1	0	13	85				
TGOLN2	10618	broad.mit.edu	37	2	85554339	85554339	+	Silent	SNP	C	C	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr2:85554339C>T	ENST00000409232.3	-	2	577	c.516G>A	c.(514-516)gcG>gcA	p.A172A	TGOLN2_ENST00000282120.2_Silent_p.A74A|TGOLN2_ENST00000409015.1_Silent_p.A172A|TGOLN2_ENST00000377386.3_Silent_p.A172A|TGOLN2_ENST00000444342.2_Silent_p.A172A|TGOLN2_ENST00000398263.2_Silent_p.A172A			O43493	TGON2_HUMAN	trans-golgi network protein 2	172	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											TTGTGGTCTGCGCCTCCGAAC	0.602																																						ENST00000377386.3																			0											c.(514-516)gcG>gcA		trans-golgi network protein 2							303.0	307.0	306.0					2																	85554339		1959	4145	6104	SO:0001819	synonymous_variant	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554339C>T	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.516G>A	2.37:g.85554339C>T						TGOLN2_ENST00000444342.2_Silent_p.A172A|TGOLN2_ENST00000282120.2_Silent_p.A74A|TGOLN2_ENST00000409015.1_Silent_p.A172A|TGOLN2_ENST00000398263.2_Silent_p.A172A|TGOLN2_ENST00000409232.3_Silent_p.A172A	p.A172A			O43493	TGON2_HUMAN			2	978	-			172			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	ENST00000409232.3	37	c.516G>A	CCDS56126.1																																																																																				0.602	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		7	861	0	0	0	1	0	7	861				
KMT2E	55904	broad.mit.edu	37	7	104703816	104703816	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr7:104703816C>T	ENST00000311117.3	+	5	750	c.205C>T	c.(205-207)Cgt>Tgt	p.R69C	KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Missense_Mutation_p.R69C|KMT2E_ENST00000334877.4_Missense_Mutation_p.R69C|KMT2E_ENST00000476671.1_Missense_Mutation_p.R69C	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	69					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TTATGGTGCTCGTCCTCCTCC	0.353																																						ENST00000334877.4																			0											c.(205-207)Cgt>Tgt		lysine (K)-specific methyltransferase 2E							83.0	85.0	84.0					7																	104703816		2203	4299	6502	SO:0001583	missense	55904							g.chr7:104703816C>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.205C>T	7.37:g.104703816C>T	ENSP00000312379:p.Arg69Cys					KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_Missense_Mutation_p.R69C|KMT2E_ENST00000311117.3_Missense_Mutation_p.R69C|KMT2E_ENST00000257745.4_Missense_Mutation_p.R69C	p.R69C							5	739	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.205C>T	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857647	0.91433	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000495267;ENST00000476671;ENST00000474203	D;D;D;T;D	0.94184	-3.05;-2.65;-3.05;1.41;-3.37	5.46	5.46	0.80206	.	0.057199	0.64402	D	0.000001	D	0.94324	0.8176	N	0.22421	0.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.95113	0.8240	10	0.72032	D	0.01	.	19.6567	0.95845	0.0:1.0:0.0:0.0	.	69;69	Q8IZD2;Q8IZD2-3	MLL5_HUMAN;.	C	69	ENSP00000312379:R69C;ENSP00000335599:R69C;ENSP00000257745:R69C;ENSP00000420415:R69C;ENSP00000417888:R69C	ENSP00000257745:R69C	R	+	1	0	MLL5	104491052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.860000	0.69546	2.725000	0.93324	0.585000	0.79938	CGT		0.353	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			8	61	0	0	0	1	0	8	61				
LPHN1	22859	broad.mit.edu	37	19	14288488	14288488	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr19:14288488C>T	ENST00000340736.6	-	3	436	c.139G>A	c.(139-141)Gag>Aag	p.E47K	LPHN1_ENST00000361434.3_Missense_Mutation_p.E47K	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	47	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CACCGCAGCTCGATGGGGTAG	0.647																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(139-141)Gag>Aag		latrophilin 1							88.0	73.0	78.0					19																	14288488		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14288488C>T	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.139G>A	19.37:g.14288488C>T	ENSP00000340688:p.Glu47Lys					LPHN1_ENST00000361434.3_Missense_Mutation_p.E47K	p.E47K	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			3	436	-			47			SUEL-type lectin.		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.139G>A	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	36	5.678585	0.96764	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.70045	-0.45;-0.45	5.15	5.15	0.70609	D-galactoside/L-rhamnose binding SUEL lectin domain (1);	0.000000	0.85682	D	0.000000	T	0.65481	0.2695	N	0.19112	0.55	0.80722	D	1	D;P	0.59357	0.985;0.947	P;P	0.55871	0.786;0.616	T	0.66544	-0.5897	10	0.39692	T	0.17	.	16.11	0.81255	0.0:1.0:0.0:0.0	.	47;47	O94910-2;O94910	.;LPHN1_HUMAN	K	47	ENSP00000340688:E47K;ENSP00000355328:E47K	ENSP00000340688:E47K	E	-	1	0	LPHN1	14149488	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	7.607000	0.82883	2.412000	0.81896	0.591000	0.81541	GAG		0.647	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		36	111	0	0	0	1	0	36	111				
LOC102723924	102723924	broad.mit.edu	37	1	41730645	41730645	+	lincRNA	DEL	T	T	-	rs529085057|rs35691145	byFrequency	TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:41730645delT	ENST00000445073.1	+	0	132																											TCTGAGCTGCttttttttttt	0.473																																						ENST00000445073.1																			0																																																			102723924							g.chr1:41730645delT																													1.37:g.41730645delT														0	132	+									RNA	DEL	ENST00000445073.1	37																																																																																						0.473	RP11-399E6.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000015626.1			3	4						3	4	---	---	---	---
CDC7	8317	broad.mit.edu	37	1	91967356	91967357	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr1:91967356_91967357insA	ENST00000428239.1	+	2	342_343	c.83_84insA	c.(82-87)ttaaaafs	p.LK28fs	CDC7_ENST00000430031.2_Frame_Shift_Ins_p.LK28fs|CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000234626.6_Frame_Shift_Ins_p.LK28fs	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	28					cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GAAGGCTCTTTAAAAAAAAACG	0.406																																						ENST00000428239.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23						c.(82-84)taafs		cell division cycle 7																																				SO:0001589	frameshift_variant	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91967356_91967357insA	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.92dupA	1.37:g.91967365_91967365dupA	ENSP00000393139:p.Leu28fs					CDC7_ENST00000234626.6_Frame_Shift_Ins_p.*28fs|CDC7_ENST00000430031.2_Frame_Shift_Ins_p.*28fs|CDC7_ENST00000497611.1_3'UTR	p.*28fs	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	2	342_343	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	28					D3DT31|O00558|Q5T5U5	Frame_Shift_Ins	INS	ENST00000428239.1	37	c.83_84insA	CCDS734.1																																																																																				0.406	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		7	163						7	163	---	---	---	---
CDC25A	993	broad.mit.edu	37	3	48200922	48200923	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr3:48200922_48200923delTC	ENST00000302506.3	-	14	1753_1754	c.1345_1346delGA	c.(1345-1347)gatfs	p.D449fs	CDC25A_ENST00000351231.3_Frame_Shift_Del_p.D409fs	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	449	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ACCCAGGCGATCTCTCTCTCTC	0.515																																						ENST00000302506.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20						c.(1345-1347)tfs		cell division cycle 25A																																				SO:0001589	frameshift_variant	993				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr3:48200922_48200923delTC	M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1725	protein-coding gene	gene with protein product		116947	"""cell division cycle 25A"", ""cell division cycle 25 homolog A (S. cerevisiae)"", ""cell division cycle 25 homolog A (S. pombe)"""			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.1345_1346delGA	3.37:g.48200932_48200933delTC	ENSP00000303706:p.Asp449fs					CDC25A_ENST00000351231.3_Frame_Shift_Del_p.D409fs	p.D449fs	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	14	1753_1754	-			449			Rhodanese.		Q8IZH5|Q96IL3|Q9H2F2	Frame_Shift_Del	DEL	ENST00000302506.3	37	c.1345_1346delGA	CCDS2760.1																																																																																				0.515	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		7	125						7	125	---	---	---	---
FOXB2	442425	broad.mit.edu	37	9	79635062	79635064	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr9:79635062_79635064delGCC	ENST00000376708.1	+	1	492_494	c.492_494delGCC	c.(490-495)cagccg>cag	p.P174del		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	174	Poly-Pro.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						accCACCCCAgccgccgccgccg	0.704																																						ENST00000376708.1																			0				breast(1)|lung(8)|ovary(1)	10						c.(490-495)cag>ca		forkhead box B2				43,0,1017		10,0,23,0,0,497						0.8	1.0			4	120,1,2995		11,0,98,0,1,1448	no	codingComplex	FOXB2	NM_001013735.1		21,0,121,0,1,1945	A1A1,A1A2,A1R,A2A2,A2R,RR		3.8832,4.0566,3.9272				163,1,4012				SO:0001651	inframe_deletion	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79635062_79635064delGCC		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.492_494delGCC	9.37:g.79635071_79635073delGCC	ENSP00000365898:p.Pro174del						p.QP164del	NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN			1	492_494	+			164			Poly-Pro.			In_Frame_Del	DEL	ENST00000376708.1	37	c.492_494delGCC	CCDS35045.1																																																																																				0.704	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		3	6						3	6	---	---	---	---
RP11-114H23.1	0	broad.mit.edu	37	12	75994146	75994146	+	lincRNA	DEL	G	G	-			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr12:75994146delG	ENST00000552856.1	-	0	549																											TCTGAATATAGGGATGACACA	0.408																																						ENST00000552856.1																			0																																																			0							g.chr12:75994146delG																													12.37:g.75994146delG														0	549	-									RNA	DEL	ENST00000552856.1	37																																																																																						0.408	RP11-114H23.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000405775.2			2	4						2	4	---	---	---	---
SRP54-AS1	100506157	broad.mit.edu	37	14	35390295	35390296	+	RNA	INS	-	-	T	rs113610910|rs58748020|rs398077685|rs77795256	byFrequency	TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr14:35390295_35390296insT	ENST00000556355.1	-	0	524				RP11-85K15.2_ENST00000555015.1_RNA																							CACATATTGCAttttttttttt	0.436													|||unknown(HR)	4098	0.818291	0.736	0.8458	5008	,	,		19317	0.8492		0.8519	False		,,,				2504	0.8436					ENST00000556355.1																			0																																																			100506157							g.chr14:35390295_35390296insT																													14.37:g.35390306_35390306dupT														0	524	-									RNA	INS	ENST00000556355.1	37																																																																																						0.436	RP11-85K15.2-004	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000410682.2			3	3						3	3	---	---	---	---
B2M	567	broad.mit.edu	37	15	45007773	45007773	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr15:45007773delT	ENST00000558401.1	+	2	290	c.220delT	c.(220-222)ttgfs	p.L74fs	B2M_ENST00000559916.1_Frame_Shift_Del_p.L74fs|B2M_ENST00000559220.1_Intron|B2M_ENST00000544417.1_Frame_Shift_Del_p.L74fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	74	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.K61_L74del(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GCATTCAGACTTGTCTTTCAG	0.413																																						ENST00000558401.1																			1	Deletion - In frame(1)	p.K61_L74del(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59						c.(220-222)tgfs		beta-2-microglobulin							210.0	210.0	210.0					15																	45007773		2198	4298	6496	SO:0001589	frameshift_variant	567				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	g.chr15:45007773delT	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.220delT	15.37:g.45007773delT	ENSP00000452780:p.Leu74fs					B2M_ENST00000559220.1_Intron|B2M_ENST00000544417.1_Frame_Shift_Del_p.L74fs|B2M_ENST00000559916.1_Frame_Shift_Del_p.L74fs	p.L74fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)	2	290	+		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	74			Ig-like C1-type.		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Frame_Shift_Del	DEL	ENST00000558401.1	37	c.220delT	CCDS10113.1																																																																																				0.413	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		19	132						19	132	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	8						5	8	---	---	---	---
HRH3	11255	broad.mit.edu	37	20	60791100	60791100	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H7-A76A-01A-51D-A34J-08	TCGA-H7-A76A-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d784bd4-0097-4aff-8e09-d29159fc0d46	b902c50b-2be0-45db-b315-afc7a2e5cb77	g.chr20:60791100delT	ENST00000340177.5	-	3	1584	c.1300delA	c.(1300-1302)atcfs	p.I434fs	HRH3_ENST00000317393.6_Frame_Shift_Del_p.I434fs	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	434					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	TGGGGCTGGATTTTGAGCTTC	0.647																																						ENST00000340177.5																			0				breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(1300-1302)tcfs		histamine receptor H3	Histamine Phosphate(DB00667)						45.0	42.0	43.0					20																	60791100		2196	4294	6490	SO:0001589	frameshift_variant	11255				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity	g.chr20:60791100delT	AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"""GPCR / Class A : Histamine receptors"""	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.1300delA	20.37:g.60791100delT	ENSP00000342560:p.Ile434fs					HRH3_ENST00000317393.6_Frame_Shift_Del_p.I434fs	p.I434fs	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		3	1584	-	Breast(26;7.76e-09)		434					Q4QRI7|Q9GZX2|Q9H4K8	Frame_Shift_Del	DEL	ENST00000340177.5	37	c.1300delA	CCDS13493.1																																																																																				0.647	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1	NM_007232		2	4						2	4	---	---	---	---
